Understanding Alyssa ... and Pain Insensitivity - Life Through Her Eyes

2011-09-20T11:48:00.001+01:00

THE CAST IS OFF!!!!!! We've been in and out of hospital over "the leg" more times than I count in the last 8 weeks (hence the delay in posting, once again!); watching for signs of bone infection, and panicking that there was something else going on with Alyssa's L leg because almost as soon as the cast came off for the first time, her leg started swelling up. She couldn't weight-bear on it at all, it buckled every time she tried to walk on it, and then she suddenly began screaming that "it hurt!" (yes, completely out of the ordinary for her!) started tearing at it, and actually tore the skin open on her knee where she said it was "hurting" her. So back to the hospital we went; then were referred back to the paed hospital as an emergency, had the leg re-xrayed (and it was found to be healing pretty well) but she had another cast put back on for a further 10 days. And then it was taken off again ...

This time; it didn't swell immediately and - although she was still not able to weight-bear properly - she was able to manage to stand, supported by me or by leaning on things she passed. And gradually that's improved where she is now able to weight-bear by herself, though it's still not quite what it was before she broke it. It did start to swell again about 2 days after the cast came off and it became huge! Every time it got bigger, she'd complain that "it hurt" (again, a first for us!) and she'd refuse to try and stand on it. Obviously I was very concerned about her leg still not being fully healed properly, and went back and forth with the doctors. There were questions posed as to whether she'd actually torn a muscle or tendon at the same time as she broke the bone, and that this was what was causing it to be unstable and buckle with the pressure of her weight. There was also a query over whether she could have a blood clot in her leg (which I stressed about the most, although was glad someone was considering other options ... instead of just saying "well it's not broken any more" ... and leaving it at that). The level of swelling also worried me, because it wasn't just a little bit swollen, her leg ended up huge, and it spread all the way down her leg to her ankle and foot at times.

However, Alyssa had her leg x-rayed again last week and the orthopaedic consultant felt her knee joint and leg. He said that her knee joint was definitely stable, but that she is laying down excessive amounts of bone tissue over (and far around!) the fracture site. That her knee itself was huge, and this was partly responsible for the swelling because the necessary inflammation and fluid that builds up to allow healing, wasn't able to drain properly like it would normally. There wasn't enough room round the extra bone tissue inside her leg. That and the positions that she manages to contort herself into, also restricting the normal blood/fluid flow (see a random example of position, in picture above!). He felt that she was ready to weight-bear and said he was happy for her to do so, if she was willing to do so. She was still not confident but we decided we'd work on that.

Fast forward a week and her confidence - and my level of insanity - have increased daily! She's now much more confident about using the leg ... but it's now a sort of 'deja vu' feeling, back to when she was first learning to walk and negotiate obstacles/doorways etc. She's so excited about being able to walk again that she just doesn't pay attention to anything else. So she's charging about on it (with me constantly reminding her to "walk gently"); smacking herself into doorways/corners of objects etc, and leaning on things which can't hold her weight ... and crashing to the floor in a heap! And feeling none of it means she simply.doesn't.care! She doesn't learn from it AT ALL! Just gets up again; apologises to me (or the body part!) in an automatic-but-doesn't-really-comprehend-why-she's-apologising voice, and carries on. Usually to the next injury! She's had more scrapes to her face/head in the last 6 days than she's had in the last couple of years, and she has various bumps and bruises all over her body.

My upside is that it SHOULD pass again, like it did before. And getting her to pay attention is the biggest key to that. And - of course - we now have the in-built padded PINK sensory room, where I can take her when she's just getting ridiculous with her injuries/lack of concentration. She may still charge about in there (and throw herself about) but at least it's padded, and designed for full-body impact! There's a significantly less chance of her injuring herself in the sensory room, so we may be spending a lot of time there over the coming weeks. The other positive is that Alyssa is absolutely ecstatic to be "walking" again, so I can't really complain about that. It took us so long to get her to walk that I have to be pleased at her little face lighting now she's "allowed to walk!!!!!" again, even if the 'dancing' gives me a heart attack every time! ;-) Got to love her positive nature when everything seems set against her at times, and how can I complain if SHE is so happy about the little things?!

Just on an "interesting" note: I've finally found someone (and her little girl) who are also suspected to have the same type of HSAN as Alyssa!!! Which is amazing! The similarities between them are incredible, especially the itch/pain responses they share, as well as the fact that they too can feel "some types of pain" like Alyssa does. Hopefully I will start to understand more about Alyssa as I get to know this amazing woman, and her beautiful baby ... and perhaps I will also be able to share some tips I've learned in dealing with my seemingly (until now) unique girl! :-)

Well I've been trying to find time to post this for a couple of weeks now ...

2011-07-30T23:27:00.000+01:00

To my delight, Alyssa's knee was NOT dislocated/ing when she walked. To my absolute HORROR, it turned out that her LEG WAS BROKEN! :-/ She must have cracked her upper Tibia at some point in the few days leading up to the day that her leg started bowing upwards, and gradually the fractured area continued to spiral round her leg ... until it had no choice but to give way completely! And that was actually what was causing her leg to bow outwards. Every time she put weight on her foot, her leg bone was coming away from the knee joint from the sheer pressure. To anyone else, that would have been absolute agony .... ! Alyssa on the other hand was still more concerned that someone with cold hands would want to examine her! :-/ A broken leg?? Sure, no problem! Touching her with cold hands? I don't think so!!! *sigh*

Basically; I got her up to the paediatric hospital the day I wrote the last post and we saw a really cool orthopaedic consultant (the one who was overseeing her Charcot foot was off on holiday). He asked her to stand and assessed her hips, knees and ankles, then asked her to walk back and forth across the room for him. He said immediately that her knee was not dislocated, but that he thought she had some sort of deformity ... but that I was right, and that whatever was going on, the problem was definitely at her knee. But being such a thorough guy; he wanted to check her entire alignment, so ordered knee x-rays but also a full scan of her legs from ankles to hips. And I saw the look of utter shock on his face when the registrar told him that there was actually a fracture just below Alyssa's knee, once the xrays were back. It probably mirrored mine! Although I was certain that it was her knee that was the problem, I honestly didn't expect a fracture. But the previous day's low-grade fever suddenly made sense ... especially with her having no other obvious symptoms! As did the completely random and (seemingly) insane comments made by Alyssa in the preceding days. Such as "muuuuuum! My leg is moving! All by itself!" :-? And "My ankle hurts! It's really itchy!!! (whilst tearing at her ankle) So presumably, some sort of shooting nerve sensation was being felt, when she was lying in certain positions.

NOTE TO SELF: PAY IMMEDIATE ATTENTION (WHILE HEART SINKS) THE NEXT TIME ALYSSA MENTIONS THAT SOMETHING IS MOVING ... ALL BY ITSELF!!! ESPECIALLY IF ACCOMPANIED BY A FEVER, HOWEVER SLIGHT!

After discovering that the leg was broken, the consultant and I had to have yet another debate on what we do about it. I voiced my concerns about casts and pressure sores etc (as well as my knowledge that kids who don't feel pain will almost always cause OTHER fractures, just because they are in casts ... because they don't favour them in any way. And stomp about on them!). The ortho pretty much confirmed what I already knew however; that because of where her leg was broken, there was unfortunately no choice. As her leg was snapped directly below the knee joint; it was extremely unstable (probably because she'd also walked about on it for a few days too!), and the only way to immobilise it so it could heal properly was to put her in a full-length leg cast. He immediately asked if I would be happier with weekly changes, to which I replied that I would. And that I would probably still be paranoid, but I felt that was best until we see how she gets on with it. We discussed her mobility and agreed that it was best - for THIS problem - that she not move about on it at all. Especially crawling (like she'd been able to do with the Charcot foot) because that would most likely result in pressure sores on the injured knee. Sadly; the longer she is immobilised the more likely it is that her joints/bones/muscles will weaken, leaving her even more prone to fracturing something else as soon as she is mobile again! And it's probably how this happened in the first place, by being immobilised to protect the Charcot foot.

The first week in the cast were a learning curve for us both. With me having mini heart attacks at her lying on her back on the floor, but slamming her cast down onto it at the ankle! Or swinging it about in order to turn round on the floor, and me wondering if she was going to dislocate her poor hip, with the speed and force she used ... ! It was a tad stressful! It was also very stressful for Alyssa. She hated the cast more than she ever even cared about the broken leg for a start! She didn't like getting it on (the water dripping on her while they cast it, the intense heat involved while it set! and it catching her in the groin area when she turned her leg inwards), but she didn't like how awkward it suddenly made her leg either. And - as she didn't feel the pain of the broken leg in the first place - she really didn't understand why she had to have it! She asked me repeatedly the day after the cast was put on if it "was all better yet?" and if I could just take it off now please! But she gradually got used to it over the first week, and we both began to calm down about it. She did love that the nurses had let her choose a PINK one! And she loved showing it off! Apart from some minor issues with it rubbing her groin and getting some extra padding, we escaped fairly problem-free. So although I was a bit freaked out at the suggestion this week that we change to fortnightly cast changes (my automatic panic response when I worry that someone isn't understanding ALYSSA properly), I understood why they wanted to do that. Partly because most children don't have them changed every week, but also because of how distressed she gets whilst having it removed. She absolutely HATES the sensation of the saw on her leg (and says it hurts!), then she wants to practally skin herself because her leg is so itchy when the cast and padding are removed. And I spend the entire time it airs while they decide on what to put back on it both trying to calm down what seems like the most hysterical child in the world, and simultaneously trying to stop her RIPPING all her leg skin off! And we KNOW she WILL do that, like she's done in the past to other areas.

However. Again; to my shock and dismay after a successful week, we discovered that she has pressure sores already after week 2 of the cast! :-( And that is despite NO walking on it whatsoever. She is standing on it briefly, but only when she goes to the toilet and she is physically unable to get up on it by herself so she can't be standing on it even once she's in her special padded bed. And she has still managed to get pressure sores. Her heel has the worst one, and the upper surface of her ankle has abrasion marks. So she must be wiggling her foot back and forth inside the cast, because that's the only way she could be getting pressure marks from her cast. Fortunately, they are both only surface wounds at the moment. And obviously she will now be back again next week for a recheck! She has had dressings applied over the wounds, fluffier padding put on, and a thinner overall cast layer applied. That was not only to help reduce the swelling whilst keeping the leg aligned, but also because the nurse was trying to reduce the amount of intense heat caused as the cast set on her leg. That nurse was brilliant, and really understood Alyssa's hypersensitivity to temperatures!

So now we have to just wait and see what Wednesday's visit brings, and hope that the wounds have healed, or at least are no worse. I'm going to be even more paranoid when Alyssa IS allowed to walk on her leg again now. And we still need to have the Charcot foot re-xrayed, to see if it has fully healed yet or not. Although she's not yet walking about or doing much standing, I'm reluctant to let her go about without her support boot on until I know it has healed completely. It's still a bit more swollen than it was before she injured that one, but for all I know that could be it's new normal. It may never get better than that. Hopefully we'll also get this one x-rayed this week and find out how it's getting on too. Then I just have to let her poor physio know about both! She doesn't know about the broken leg yet, because she's been on holiday since Alyssa did it! Oh the joys! ;)

Despite it all, Alyssa continues to smile, laugh and entertain us all with her wicked sense of humour and fabulously fun personality. She certainly is one very special little girl! :)

So the results are in ...

2011-07-13T12:04:00.001+01:00

And the MRI confirmed the diagnosis of Charcot foot in Alyssa's right foot. The orthopaedic specialist who showed me the MRI pictures decided that it was better to refer her back to the paediatric hospital orthopaedic specialists, so that we could develop a plan for her. And told me just to continue doing what I'd been doing ... ie keeping it immobilised, and her off of it as much as possible. The orthopaedic specialist at the paediatric hospital saw me in a joint consult with the rheumatologist thankfully, and between them (and the podiatrist, whom the rheum had also asked to join us), came up with the plan that we should start letting her weight-bear again. That she could do "normal 4 year old activities" again, (at which I did laugh a bit as she apparently did this damage from either a simple tripping over, or from just trying to go down some stairs) but was pleased that they felt it was improving enough to allow her to start building up some exercise. The ortho had requested more xrays that day and said it there was now pretty clear callous formation present, so she must have actually fractured it initially. Then continued to stomp about on it for almost a month before it was immobilised with the boot. But thankfully, the damage done was not as bad as it could have been! They all advised getting her better trainers to cushion her stepping, and hopefully protect her feet/ankles from future damage. So I went straight out and bought her some new Nike Air Max trainers, in a variety of colours ... as some were also what she was going to be wearing to school, when she starts school in August. And we started trying to build up her exercise again, whilst restricting her immediately again if we felt that her R foot was swelling up again. And the ortho advised having her foot xrayed again in 4-6 weeks locally, to save me yet another trip to there!

In the midst of the "being allowed to walk again" period, I had two other fairly major stressors! The first being the discovery that Alyssa had a NEW TOOTH!!! An ADULT tooth! Already! At 4!!!!! *faints* We'd been told many times that - although there was a VERY SMALL chance of her adult teeth coming in early - she was much more likely to be very delayed getting them, and might actually need help in getting them to come down. But I was perfectly happy with them coming in later (and ready to deal with any complex issues she had, from having no teeth compared to her school friends!), because it meant longer before she could do any damage to her mouth etc again. I couldn't believe that there was something WHITE in her mouth, that had clearly been there for about 3 weeks by the time I found it (and almost passed out!), but was pleased - though terrified - that at least it had been there and she hadn't managed to bite herself with it. And 2 weeks later, the "bleeding" started again! :-/ She had two episodes within a week, though fortunately both were VERY MINOR incidents. She must have grazed her bottom lip with her new very sharp tooth, and had absolutely no idea that there was blood running down her chin! Or again; a few days later, that she had her top lip bleeding! :-/ I was very confused as to how she managed to graze the top lip because the tooth isn't even completely down yet, and I began to panic that - once again - we were going to have to deal with biting damage. But that this time, we'd need to remove her adult teeth! Something I absolutely positively did not want to do!

A panicked call to the dentists ensued, and we were seen really quickly. The dentist was lovely, had clearly put a lot of thought into Alyssa's situation, and was happy to go ahead with my suggestion of just filing Alyssa's sharp, jaggy, new tooth down to a blunt edge, because it wasn't going to do her any harm and would at least be an attempt to save it. He felt it was important that I understand it might not help, because she genuinely didn't know - before or after - if she'd bitten herself with it, but I advised that I didn't feel she was actually going to start "biting" herself like when she was a baby and teething. She is definitely much more aware from that perspective, but that she seemed to be grazing it accidentally and (hopefully) by removing the sharp edge, we'd at least get away with it for longer. He was happy to oblige, and polished it down for us. Alyssa found this very tickly and laughed hysterically every time he touched her with the polisher, which made everyone laugh along with her! :-) He also said he was happy for me to call him whenever we needed him, and save us the extra journeys to the paed hospital. Which we will probably take him up on very quickly, should she have any more issues. I'm very pleased to announce that - so far anyway - there has been no more damage from her teeth! :-D

The "other issue" we've dealt with over the last couple of weeks is the discovery that Alyssa isn't blinking enough. To the point where it's already starting to affect her eyesight adversely. In short, she's not feeling when her eyes are too dry (like we would do automatically, and without thinking about!) so she's not blinking. And they are getting too dry. Fortunately the damage so far is very minimal, and I've now resorted to putting eye drops in her eyes for lubrication, in the hopes that we can save her from any future sight damage. They are purely "artifical tears" so nothing bad is going in her eyes, we're just giving her a helping hand. Let's face it, you only get one pair of eyes! Hopefully when we return for her next eye check-up in 6 months time, they will notice an improvement.

And that brings us to - literally - last night. She was at her dad's house overnight on Monday to yesterday teatime. When she came home, her dad remarked that she'd fallen from the bar stool in his kitchen so to keep an eye on her right arm, though there were no marks/bruises etc. I noted that, then he said that he felt she was also walking funny on her left leg. I asked in what way and he said her leg was "bowing out an awful lot" when she walked, so I asked her to walk ... and just freaked out (internally) at what I saw. Her entire leg was bending - the wrong way - out to the the side, whenever she put weight on her leg! As if she'd dislocated her knee, and it was bending sideways instead of to the front! :-( She'd had periods the day before where she complained her ANKLE was "sore" and when I asked what she meant she meant by sore, she said that it was "really itchy/sore/itchy" but there had been nothing to see. No swelling at her ankle, no puffiness, redness or anything to suggest that she'd injured herself. And she was definitely NOT walking like she was when she returned home. I had yet another panic attack - especially knowing that the hospital wards had JUST (yesterday!!!) transferred over to our new local hospital, and that they were still setting things up and getting to know where everything was in the new childrens ward! And set off for the new A+E department, also just transferred yesterday! It's like someone told her there was a new hospital to try out! :-/

Fortunately; as soon as I explained that she normally has open access to the childrens ward, they phoned the paediatric department and were told just to send her up. And - even more fortunately - it was a consultant paediatrician on-call who I know VERY well! And who knows that I know Alyssa better than anyone! She asked what was wrong, and I explained. She initially thought that Alyssa was "going over on her L foot" and that this was causing her leg to follow and bow outwards ... but once she let Alyssa into the brand new playroom to play with the toys (and informed her that she was the first EVER child to play with the new toys!), Alyssa just wanted to take off round the room ... allowing the consultant to see her walking on it! She just looked horrified at me, and said she understood immediately why I was concerned about Alyssa's knee. That she could xray Alyssa, but it was clearly some sort of internal joint damage (there was nothing to suggest infection etc) and that she would rather just send Alyssa straight to the paediatric hospital ortho for investigation, as he would want his own xrays taken anyway. She was happy for me to continue to restrict Alyssa walking again, and to take her home to her safe padded bed, and said she'd phone them first thing this morning and arrange for her to be seen. They phoned this morning, and I'm currently waiting to take Alyssa up for an appointment with the ortho this afternoon (the same one who's been seeing Alyssa for her Charcot foot), so hopefully I'll find out today what Alyssa's done. We're still not sure if it's her knee, ankle, or both ... but I'm hoping that it's *just* her knee, and that it's something easy to sort! Will update as soon as possible!

Wow! That's the longest period ever ...

2011-06-02T14:11:00.000+01:00

This is the longest I believe we've ever gone without an update! And - in case you hadn't guessed - life's been pretty crazy and intense!

The surgeon appointment went really well! Was very pleased with how much thought he'd clearly put into Alyssa's issues, especially with how confusing and conflicting she is between her "lack of pain" and her internal "extreme pain"! He actually did have a few idea; which was fabulous to hear, but wanted to run his thoughts past the other specialists Alyssa sees, with her being so unusual! Then followed a period where they all tried to get a meeting together, with Alyssa's local paediatrician (who knows her best) and unfortunately that's still to happen because of their hectic schedules. We did trial at home a TENS machine placed over her ankles, with the hope that the sensation would travel up the nerves in her legs and interrupt the sensations in her groin area, but it proved too difficult to use with a 4 year old. Especially one who seems to fall over fresh air at times! The cables were just too cumbersome, though I *believe* it may actually helped when her pain was not too severe ... but once it reached it's full intensity, she didn't notice the TENS machine. But still a learning experience for us, and possibly something we can use later on when she's a bit older.

After that, we had a brief period where life was fairly "normal" (ok, less normal than OUR normal) and there was rather nicely, not much to write about. Sadly, that didn't last long and - approximately 2 months ago now - Alyssa had a minor fall whilst playing in her dad's garden, and burst her chin open. Her entire chin and jaw swelled up almost immediately, and the cut was gaping ... and I then spent a couple of hours chasing her round the garden with an ice pack, trying to get the swelling down so the wound could seal over! It was actually rather amusing (though only because it was a pretty minor wound, and not bleeding too heavily!) because she simply didn't care, and just wanted to play on the outdoor toys! And I was trying to stop her from bleeding and swelling up before my eyes! Ended up taking her to A+E in case she needed the wound glued or stitched, but by the time we waited to be seen, it had finally started to congeal and sealed iself.

A few days later; while she was in the bath (a good time for head-to-toe body checks), I noticed that her right foot was a little bit puffier than the left one. Now her feet are usually a bit puffy anyway, and some of her joints swell up as soon as she's in water so I wasn't completely convinced there was anything wrong but decided to monitor the situation. By the next morning, it was clear that it was much more swollen than her left foot and I was worried that she had broken a bone in her foot. Fortunately, we had a previously scheduled appointment with her paediatrician that day anyway so I was pretty glad. When we arrived, I explained my concerns and the paediatrician checked her foot over. It moved freely, there was no obvious bruising or redness (at that point) or any other signs of injury, so she felt that it was probably something random, in relation to Alyssa's autonomic issues. Especially with it already being known that she swells up and down in temperatures etc. And advised me to try giving her anti-inflammatories for a few days and see if it helped reduce the swelling. That would obviously have been too easy for Alyssa, and it actually continued to swell until it was almost 3 times the size of her other foot ... by which time I was convinced it was broken. And headed to A+E again!

I HATE turning up at A+E with Alyssa, especially on 2 visits less than a week apart! :-/

Her paediatrician phoned as I was in A+E so I explained it was still swelling, despite the anti-inflammatories and I was really worried that she'd broken it after all. But that it was also a bit red, and really hot and I was starting to wonder if it could be cellulitis instead. She said she'd bring Alyssa's notes down to A+E and speak to them about her not feeling pain, and what we had to watch for. Alyssa's foot was xrayed and they appeared to be clear, so we were sent up to the children's ward for further investigation. She had bloods taken, was sent for an ultrasound, and although there wasn't much to suggest infection, she was started on IV antibiotics to treat a highly suspected cellulitis. Just to be sure, 2 different orthopaedic consultants came to see her and also examined her xrays. There was some debate as to whether she could have broken one of the smaller bones in her foot - which wouldn't show on xray until it started to heal - and it was felt that it was most likely cellulitis of some sort. And we stayed for 5 days!

The foot did not change! At all. Except to go from being a fairly soft swollen foot into that of a much harder overall swelling. So we were discharged with the understanding that Alyssa's paediatrician would contact me as soon as she was back, and we'd discuss what to do next. The firmness of Alyssa's foot concerned me, because it felt like it was a sort of involuntary "protective" mechanism ... but I was assured that it was not too swollen or hard and that if that happened, I'd start to see dimples in the skin, and I should take her back in again. I decided to ask the other parents of children like Alyssa for advice, and almost every single reply to my question (and upon seeing the photos of Alyssa's foot) was that their childs' foot looked exactly the same ... when it was fractured! Several said that their children had received such tiny fractures in their feet that they weren't obvious on the first few xrays, and were only noticed after taking different views, or with "weight-bearing" xrays. So her paediatrician decided that it was time to organise an urgent MRI, as the consensus was that something was definitely wrong from an orthopaedic aspect. But she had already scheduled an appointment with the rheumatologist at our local paediatric hospital (which I was still waiting for) so we decided that I'd still go to that and see what ideas the rheum had, while we waited for the MRI to take place.

Turned up to see the rheum and was saddened (but not particularly surprised unfortunately) to discover that Alyssa's foot looked exactly as she was expecting it to look! And that it was now almost exactly a month since it had first started swelling up, and it didn't look much different. She informed me that Alyssa most likely had what is known as a "Charcot foot" and is basically caused by a build-up of tiny fractures in the foot - from simple things like walking, climbing stairs, trying to jump (because she can't actually do that yet, even at 4) etc - because she doesn't feel how hard she is landing on it. And that it is sadly something that she is going to be particularly prone to, because of her extreme flexibility at almost every joint. In other children who don't feel pain: the foot takes the impact; the joint refuses to absorb it because of the normal resistance, and the foot/ankle/leg breaks. With Alyssa; her joints are so flexible that they can provide no resistance whatsoever, so they act like shock absorbers ... but the foot still takes the same level of impact, and the bone starts to disentegrate. And she doesn't feel it, so she keeps doing the things that cause this to occur.

I explained that an MRI had already been requested of her foot, but that we hadn't had it yet and the rheum said that wasn't the worst thing because Charcot joints don't show up immediately, and would explain why the first xrays taken appeared normal. That the longer it was before she had the MRI, the more likely it would be that it would confirm the existence of a Charcot foot. But that I should always be suspicious about her feet swelling, turning red or feeling hot, as these are the first symptoms. And early treatment is vital! Keeping her off it, and it immobilised were absolute priorities if we want to stop it continuing to deteriorate, as it will eventually cause her foot to deform. And then she will require surgery to correct it. :-(

So she has been wearing a sort of "removable cast-boot" for the last 3-4 weeks, and I am trying my best to keep her off of it as much as possible without causing her unnecessary distress. That is not as easy as it sounds, especially when you factor in that she DOES NOT KNOW THERE IS ANYTHING WRONG WITH IT! Nor does it "hurt" or cause her any problems, so she cannot remember that she is not supposed to use it. And she is 4! And gets bored easily, and frustrated with not being able to go to the park or to the local softplay centre. Or even the brand new Sensory Room! Which I thought had been timed perfectly ... but which completely backfired on us, because we'd taught her that the Sensory Room was the only place where she could throw herself about and get the impact sensory feedback that she needed. So each time she goes in it, she just goes crazy, and her foot starts to swell again. And the only way it is going to heal is to keep her off it! So it's already out-of-bounds for the time being, unless she is in the swing or constantly supervised in it.

The MRI is scheduled for Monday coming, and I am hoping it will go ahead as planned because not only is she having her foot done, we've managed to arrange that she'll get her entire spine done as requested by the spinal specialist earlier this year ... if she required a GA for anything else. However, she is now sick with a cold so there's every possibility that after waiting a month for it, it will now be postponed. All in the life of Alyssa ....!

Will update regarding the MRI etc as soon as I get a chance to, though it seems pretty certain that we are really just going to get confirmation of what is wrong with her foot. I've attached a link to Charcot foot, so you can get a better idea of it. The "diabetes" relation can be disregarded in Alyssa's case, it is merely mentioned because it is more commonly seen in diabetics who develop neuropathy in their feet, causing them to lose sensation. Alyssa's condition is so rare, there are not many articles written about people like her!

http://www.footphysicians.com/footankleinfo/charcot-foot.htm

And my beautiful girl is 4 ....!

2011-02-27T14:27:00.002Z

Hard to believe my "baby" turned 4 this week! Seems strange and - for the first time that I can remember - I actually feel like it's been a while coming. Things have really calmed down in the last year and we've had less hospital appointments, and NEED for hospital appointments so I finally feel able to experience some of what other people experience with their children. That whole "how did we get to 4 already" instead of feeling like "are you sure it's ONlY been 4 years" scenario. When your life is just a neverending screaming/vomiting/non-sleeping/mutilating cycle of events, time seems to have it's own different reality. And I know of other families who suffer this same "variation in time" with their children who suffer similar, yet different disorders. My thoughts are always with them as I remember all too well, the horror that was Alyssa's younger years!

We went to Disneyland for her birthday and she had a brilliant time. We were a bit disappointed to discover that there's no "real" Tinkerbell at the Paris Disneyland (and the only ride she appears on, Alyssa wasn't allowed in because the kids had to be able to climb stairs or ladders in case of a fire), so we had to sort of gloss over that fact for her and just point out her pictures in various places. But she was overexcited every time she saw any of the Princesses and almost hyperventilating when we saw Belle! Cinderella loved the Disney Princess straps on Alyssa's wheelchair, pointed to herseld and said "that's ME!" (to which Alyssa was nodding but speechless!) then Alyssa almost passed out when Cinderella hugged her! :-) We came home with FAR more stuff than we really should have, but her face at all the different designs (Minnie/Princesses/Tink) on various clothes just made us softies buy all the more stuff! Still not entirely sure how we managed to pack them all into our cases and still make it under the baggage allowance, but somehow we did! And we smuggled a lot back, to wrap for her actual birthday!

There were obviously negative aspects of the trip (for Alyssa) though she was thankfully unaware of them. It just seems like we never get a break from some aspect of her pain insensitivity though! It was really cold there (much like what we had in our ice/snow period here over Nov/Dec) despite there being no snow, and her external nerves just do not warn her that she's too cold. Here it was a big enough problem just getting her to nursery and back without her poor hands/face etc swelling up because of the cold, but in a park where you spend roughly 8 hours a day wandering about, she ended up with freezer burn - despite my best attempts to prevent that. The first day she only had it down the sides of her legs, because she fell asleep on top of herself. The following day, her hands were almost twice the normal size while they were "thawing" (even after we spent ages finding and buying a huge blanket and thicker mitts for her size) and her face got it on both cheeks. She looked like she had severe sunburn by the time we got her back to the hotel and ready for bed. The heat coming from her hands and face was intense! And to anyone else, that would have been agony! But she had absolutely no idea any of it was going on. So I guess there are always *some* benefits to not feeling pain. Unfortunately; these are also the warning signs of frostbite, which her paediatrician has already warned me about, and that she is a much higher risk of getting it - without warning - because she doesn't feel it.

We also found it very difficult to stick to her newly-started gluten-free (GF) diet whilst there (despite what we were told before going) and the restaurants mentioned certainly did have a good variety, but our own hotel had only a "buffet-style" breakfast and dinner, and could not / would not guarantee that anything was GF. So we had no choice but to just let her eat what she wanted, and we are now dealing with the aftermath. She hadn't really been on it long enough to know if it was actually helping her everconstant gut pain, but I had initially noticed that she stopped screaming within 2 days of starting it ... which made me hopeful. She was still "sore" when going to the toilet, but not physically screaming like she was being ripped apart. We've just had a fairly horrific weekend where the screaming seemed neverending, but finally seems to be coming to an end again, and we're back to being as mostly GF as possible while we get our heads around everything we need to avoid, and see the dietician again on the 7th March. She has also had a tummy bug too though, so that didn't help .. but am pretty sure the gluten is a bigger deal that we originally thought.

We are seeing the surgeon tomorrow morning at YH, for the first "direct referral" and a chance to discuss directly with him what Alyssa's issues are. I only met him briefly last September just before he performed Alyssa's surgery (which sadly did not work as they all hoped it would) and that was organised via the pain specialist. We were told the surgeon "did have other ideas and suggestions" but - at that time - the pain specialist did not feel that we needed to do anything as drastic or invasive as the surgeon's innovations. That the medication trials he had planned, were going to solve Alyssa's gut/rectal pain. We're now almost 18 months laterl; with several "failed" trials, and no nearer to any solution so am hoping that the surgeon does indeed have some other ideas! And that - maybe just once - something will go right for us. I will be very interested to see what he says tomorrow ... and HOPE it is not "I'm sorry, I don't know how to help her" as we are now becoming used to hearing. :-( Fingers crossed, this is the specialist who will finally be able to help her x

Nearly forgot!!!

2011-02-09T14:15:00.002Z

Oops, nearly forgot to include the other FABULOUS thing!!!

We recently discovered that - on top of Alyssa's low muscle tone - she is struggling with her hand grip strength. Now although I always knew that, I hadn't realised that it is affecting her physically at nursery (and therefore will do if she goes to school this year). We had a few discussions about the OT coming to nursery weekly and assessing what writing tools would make things a bit easier for her to use. But we also discussed the splints that Alyssa wears at night-time (to stop her tearing her skin off and causing friction burns to various parts of her body). I had previously worried that - eventually - they would start to cause muscle wastage or affect her arm/hand strength and it appeared we were now at that point. We had already had many discussions about alternative products / methods which would help stop her from scratching and tearing at herself, while still allowing her freedom to use her arms. And come up with nothing.

Because it was now clear that - yet again - we were fixing one problem, and causing another one (as always appears to be the case with Alyssa), we started hunting once again for something to help our situation. And the OT came up with "Scratchsleeves"

Scratchsleeves is a specially designed garment which looks like a shrug, but it is made of smooth cotton, with silk-ended mitts (fully attached to the garment). It was originally designed for babies with severe eczema and who also tear at themselves, causing severe skin damage. The inner part of the mitt is cotton, but the outer layer is silk so the end result means that even though baby (or in this case, Alyssa!) is scratching from the inside, the silk layer glides over the top of the inner cotton layer so there is no "friction" like there is with regular mitts or socks on. And they would mean that - assuming she couldn't get them off - we would be able to get rid of the splints. So we put them to the test!

And 2 weeks later, we're LOVING them! :-D She can still strip her bottom layers of pyjamas/silk garments off and "scratch" her thighs, but there has been no friction burns since she started wearing them (and there were still friction burns when she had splints on because she could reach her legs, even though she couldn't reach other parts of her body), and she has been wearing them under her pyjama top so she can't get them off. Obviously that's partly because of her low muscle tone and poor grip strength and once we start working on building those, that will probably be an issue again ... but so far, they're wonderful! We have removed the splints and will start working on strengthening those areas over the next few months!

I'll admit that I was absolutely terrified of what would happen when I removed the splints (even though I desperately wanted to!), because she has ONLY been wound-free since we started using them (well, only in the last 5 months of wearing them for almost 18 as she was still attacking herself during the day!) but she WAS still managing to cause friction burns. And I was really paranoid the first night we trialled them, and had my eyes glued to the monitor! But I've calmed down now and am enjoying marvelling at seeing her sleeping with her arms in so many different positions! It looks so strange! And just shows how quickly something becomes "normal" in your eyes, when it's so bizarre to everyone else.

I am already planning ahead for when she is able to get the Scratchsleeves off, and plan to ask the makers of Scratchsleeves if they could design something for older children so we avoid that problem. Clearly no amount of medication is ever going to control this itching sensation she has. I also have friends with children in the same situation, those who feel no pain but feel itch ... and cause horrendous wounds. But they are all much older than Alyssa and can dress and undress themselves, so they would be able to get them off.

Good news ....

2011-02-09T10:20:00.002Z

Well, it appears that time has gotten away from me once again! Oops! :-/

The spinal consult with the orthopaedic specialist went better than I could have imagined! So was VERY pleased by that. What an exceptionally lovely man he was too, which is always nice! :) He was happy that the defects noted on her spinal MRI were not affecting her nerve roots, so could not be causing the excruciating abdominal/rectal pain that Alyssa feels regularly. And that although he will be wanting to monitor the situation in case it changes, there is nothing needing done about these defects for the time being. He did assess her for scoliosis too (where the spine curves to one side or the other) and was very happy that she has no evidence of scoliosis at the moment. He did say that - unfortunately - her pain insensitivity AND her low muscle tone puts her at very high risk of that developing; that he will actually be very surprised if she DOES NOT develop scoliosis later on, but that we will deal with it as it happens! But he has also showed me what to watch for, so I know if it's starting to develop.

He also assessed her knees and ankles (the joints most affected in those with pain insensitivity - regardless of cause - because of the constant pounding those joints take when suffers feel no pain to indicate that they have landed wrongly etc), and was happy that they are well-aligned, and that there was nothing to indicate any current damage to those joints. He will see Alyssa annually unless I have any concerns/worries before that time, and has left me with the direct number for the spinal liasons nurse. All-in-all, one of the most positive consultations we've had in a very long time! He recommended that we go back to "the team" at Yorkhill, to get her other issues under control (ie her abdominal pain etc) which clearly are not at the present time, and advised me not to worry about her spine. The defect is there, but we know about it and will monitor it accordingly.

I've also been looking at alternative companies for the never-appearing Sensory Room, which is getting more than a little frustrating!!! I had a rep from another company out a couple of weeks ago to give me a competitive quote against the original company I was quoted by, and have just phoned the new company today to say that I still have not received the quotation! After some searching, I was told that it was posted yesterday .... so hopefully will be with me today. Am disappointed as the rep was very thorough at the time, pointed out things that the first rep had not made clear to me, and was fab with Alyssa. And that alone had swayed me more towards this particular company, but I'm disappoined that it's taken 2 weeks to even get the quotation to me! The first company had it to me in 5 days at the initial assessment, it just took a bit longer to get the new prices once we finally had the money together and the building work was arranged.

I have contacted the housing association once again and asked for a final confirmation that they are happy to proceed with the sensory room, as I feel like I've been waiting forever! There have been no workmen in my house since before Christmas and nobody has been by to check the level of work since that time, so I am presuming that it is fine to go ahead ... but I don't want to pick a company, have them start installing it then discover that the housing association are not happy! Aaaaaarrrrggggh! Hopefully this will get to the "creating" stage in the next couple of days, as - according to the sensory rep - it takes about 6-8 weeks for the foam padding to be cut and covered to order ... so the date for finalisation is getting further and further away! Yes, very frustrating! :-/

In other "exciting" news, we've been looking for help with one of Alyssa's many other problems - her inability to control her body temperature properly. And I contacted a few companies who make "temperature change" wristbands - normally for advertisement purposes, but which I though might help the nursery/school staff identify when Alyssa was overheating. The health visitor also told me about a company called "Babyglow" who make special sleepsuits for babies, where the fabric changes colour in relation to the temperature of the baby!!!! So I e-mailed them and asked if there was any way to have wristbands made up from them - which I would be more than happy to pay for - esplaining about Alyssa's problems.

I got a phone call from the chairman himself, that afternoon! To say that his team had passed my e-mail on to him and that he was absolutely desperate to help Alyssa in any way he and his company could! He said he wasn't sure that wristbands would help because the skin temperature in different parts of the body are different temperatures (something interesting that I didn't know!) but that if I sent him all her measurements, he had a few ideas and would see what he could make up to help both her and us. He initially thought of using headbands, but unfortunately I cannot get Alyssa to even keep a "normal" headband on ... not even if it has *gasp and scream* T.i.n.k.e.r.b.e.l.l on it! So I didn't believe she'd keep a babyglow one on. So he basically told me just to send him all her sizes and - for the shorter term - they will make her up 5-7 vests which she can wear under her nursery tops, and the staff will just have to peek at her vest if they are concerned she's too hot. And he will get his team thinking about what else they can do! Oh, and all of it they would do free of charge! :-O

I was absolutely stunned by this generous offer. I was more than prepared - and willing - to pay for anything which would help make both Alyssa's life easier, and those caring for her. And I'm used to either paying for personally, or fundraising to get her what I think she needs. But the Babyglow chairman would not hear of it, and says that their company was started for people like us. Individuals who need help and are struggling to find it, and that he has never forgotten that! I am overwhelmed by their generosity, and cannot wait to see what they will come up with! :)

We're off to DISNEYLAND, Paris next week for her little majesty's birthday! Can't believe she's going to be 4! But she's very excited, particularly about seeing TINKERBELL (surprise, surprise) but also the Disney Princeses and Mickey, Minnie and the gang! Belle is now her "favourite princess" and she is almost as obsessed with Belle, as she is with Tinkerbell ... who I am assured is still her "favourite fairy!" ;) Starting to get my list together of the zillion things required to take Alyssa anywhere ! and then working out what *I* can take, in whatever space is left over in the cases! Alyssa does not travel light!

We will be back just in time for her birthday, so her family can see her too. And so she can show off whatever ridiculous things I am sure we will bring back from Disneyland for her! I will try to update again soon x

It's a New Year ...

2011-01-04T16:26:00.002Z

Hoping everyone has had a lovely Christmas and New Year period, and that you're not all coming down from this cold/flu that is going about (which I currently have too!).

We had a lovely christmas (noisy as per usual with our large family!) except Alyssa was feverish as the day itself wore on, but she most definitely enjoyed all of the things "Santa" brought for her. And seeing all of her family members at different stages of Christmas day. She is already asking why the "santa, stop here" sign has been taken down though ....!?! :)

We finally have the orthopaedics appointment tomorrow at the Sick Kids Hospital in Edinburgh (postponed last month due to our horrendous weather, after a 4 month wait!) so am looking forward to seeing what information that brings. Will obviously be exceptionally happy if he is happy with what he sees on the xrays, but it will also be an informed opinion if not. And something we can get guidance on.

Very short note today, just a quick note really to say hello and that we're still here! :)

This life of mine is just getting crazier and crazier ...

2010-12-13T18:44:00.002Z

Well! Can't believe how long it's been since I last posted!! Just checked the date and it was the 22nd October!

Sadly; the "building part of the work" that was going to be done was NOT done (or even started!) by the 25th October ... as it was decided that everything would take place at once, and the special air con / heating system which was to be installed had not come in yet. This was to basically allow me to regulate the temperature inside the entire house, as well as the sensory room - where I originally asked for it. It eventually arrived towards the end of October and very nice contractors came out and installed it the first week of November ... where it worked for a week!!!!! :-O I originially thought I just hadn't figured it out properly to start with, until I felt cold air blowing on me (when it should have been hot, as it's November!) and decided I should phone them the next morning. When I got up the next morning, there was ICE on one of the units! Definitely not what should be expected when it is on HEATING! The guys were as lovely as before and came out, and wasted almost an entire day trying to figure out what was wrong with what turned out to be one of the motor units outside, which powers the internal wall-mounted units. After much discussion from the company's technical "helpline" (who also had never seen the error code being displayed!), it was decided that it could not be fixed and we'd need to wait for an entirely new motor unit to be delivered!

Fortunately for us; the contractors had had the presence of mind when installing the system to put it on a split-system so that if one system broke down, we'd still have the other system. So our bedroom units were still working, even when the hall, living room and sensory room areas were not. And good job the existing heating system hadn't been removed, as we suddenly found ourselves in horrendous weather for this time of year which we haven't had in about 17 years ! so we needed the other system on almost all the time to keep the house heated! In the midst of all this, various contractors came out and changed the Sensory Room door to a "stable" door which opens outwards, moved the light switch to the outside of the room and removed the existing window sill. After much discussion (and phoning to Ochil View!) the joiners came back again and put a new window sill in and filled in the gaps which had been left, installed the hooks we need in the ceiling so Alyssa can swing to improve her balance/vestibulary problems, and so we can hang things from them for her to reach and grab etc, and improve various sensory issues.

The OT happened to come out at the same time as the joiners so we all at least were able to discuss what was needed as there was some confusion on everyone's part, about what the end result was to be from each of them. The main jobs now seem to be complete but they were not finished when the initial inspection was done, so we are now awaiting another inspection so that Ochil View are happy with the work done ... but they need the OT now to sign off that she is happy that the newly-installed air con / heating system, because the Ochil View inspector is concerned that the motor units outside are now a hazard externally to Alyssa, if she is playing in the garden etc! Something I never really thought about because she is never allowed outside to play unsupervised - for that very reason - but obviously; despite my assurances that I would not hold them liable for her injuring herself on it, they need it in writing by the OT that she agrees with me. He feels that the contactors would have put it where it was easiest for THEM, but not necessarily where was best for Alyssa ... and it was something the OT and I hadn't even considered. I can fully understand Ochil View's position, but it just seems like nothing is ever straightforward!

During all of this, the sensory room would have been very appreciated as Alyssa's new "trick" is to do "falls" ... which basically means that she is throwing herself at the floor at every opportunity! The first few times she gave me heart failure, though I have to try and not react as doing so encourages her to do it more! She is after all; a toddler, who does not understand that she is potentially injuring herself when she hits the ground with full force! And - having spoken to the OT (and her witnessing said trick!) - it's clear that Alyssa is actually doing it because she is getting sensory feedback from it. She feels "something" when she impacts the ground in such a way, and this is equivalent to the punching herself in the stomach/ribs etc or rocking her feet up onto her chest when she's lying down (and not throwing herself about!). I learn something new every day with this child!

Fortunately; I have managed to explain to Alyssa that she can not "fall" like that except for where there is padding and (thankfully for the nhs!) she has her huge padded bed, so she is "practicing her falls" in her padded bed for the time being, and understands that she will also be allowed to do them in her sensory room .... once it is finished!!! But that she is not allowed to hit herself off the walls, ground etc etc unless she is in her bed, or the sensory room ONCE FINISHED!!! *sigh*

Also in the last six or seven weeks (since I last posted) I've become aware of Alyssa's "intolerance to cold" in a new way. Sadly; despite her complete aversion to hot weather / heat of any kind, she is completely unaware of being too cold, even though anything cold actually coming into contact with her causes severe discomfort! The newly-installed heating system could not have come at a better time and although I really wanted it in the summer for the air conditioning element, it's proved to be just as essential now that it's so cold here. Alyssa will not tolerate blankets, sheets or even a towel (I got to desperate measures!) on top of her when she is in bed, so the only things that keep her warm are whatever she has ON. And those things have to be specifically chosen so that she cannot TAKE THEM OFF! Because she will, then freeze! She has been turning blue regularly lately, and is completely unconcerned about how cold she is. :-(

And now it's clear that her circulatory system is also included in this "disorder" she has which stops her feeling pain, as - as well as her turning blue when she's too cold - she is now also turning bright red, swelling up and burning whenever she's out in the cold, particularly in her hands ... but also her knees, face etc. I've chatted briefly with her paediatrician and she thinks it's likely that Alyssa has some form of Raynauds' / Erythromelalgia which basically means that the bloodflow is being restricted to her fingers in cold temperatures, or it's doing the opposite and rushing to them. Thankfully (for once!) she cannot feel this, because it both are said to be extremely painful! It's a bit of a bitter silver lining however, as these disorders in children are exceptionally rare and are "usually secondary to peripheral nerve damage" ... so just something else that she gets along with her rubbish nerves! :-( We see her paediatrician in a few weeks and she will take bloods from Alyssa, to test for various things before referring Alyssa back up to the rheumatology department at our regular paediatric hospital. I'm just having to be exceptionally careful at the moment about making sure she always has gloves on when outside - even for a matter of minutes - and using loads of thick moisturiser on her hands/arms/knees and face to battle the skin-drying which is going on as a result. It just never seems to rain but it pours sometimes!

The orthopaedic appointment which was to assess Alyssa spinal abnormalities sadly also had to be cancelled due to our recent horrendous weather, and the traffic chaos which ensued. I was gutted as we'd waited almost 4 months for the appointment but after hearing about the poor people who got stuck in their cars/vans etc on the motorway I'd have needed to use, for up to 25 hours ! I decided not to risk taking Alyssa. The thought of her being stuck in the car, trying to keep her warm (and not have her overheating, or her fingers etc turning blue!) was just too much to cope with, and we've had to reschedule it until the 5th Jan. But better to wait another month than risk being stuck in those awful conditions.

On the up side; thanks to everyone who helped us reach/beat our Sensory Room target, I was able to order Alyssa a much-needed specially supporting car seat and a duplicate supporting chair like she has at nursery. I was originally planning to keep it for the next New York trip, but it always becomes a priority-based issue with Alyssa and I was becoming more and more concerned about the fact she was outgrowing the "regular" car seat and should really be moving on to a normal booster seat. That would have been absolutely no use to Alyssa, because of her severely muscle tone, she would just have ended up half-way across the seat. And not safe at all! Likewise; at home, she has such difficulties sitting up unaided that she is now mostly not even attempting to do so and - if made to - she will just opt to lie down on the floor instead! But the "rocking and punching" automatically starts up. If I force her to sit up, she will sit with her head flopped on her chest because it's so much work for her to concentrate and hold it up! So these seemed far more important! Her nursery chair has already proved that she immediately holds her head up as soon as she sits in it, and the punching stops because it is designed so that it's fairly tight-fitting on her chest ... giving her the same sensory feedback she gets from hitting herself. Win/win! The only downside is that she's overheating a bit in it, so we've asked for "cooling" gel cushions to be installed in the duplicate chair being made, then we'll swap them over so the new one is at nursery ... as I can regulate the temperature easier at home.

The "carrot" car seat arrived a couple of days ago and we tried it out for the first time today. I have to say ... it's BRILLIANT!!!! It was not cheap. Not by any means. But one journey with her in it made me wish I got it a long time ago! She sits up so well and the chest pad stops her from flopping herself straight over on to her legs like she did with every other car seat we've tried her in. She can still flop her head down onto her chest unfortunately (which means she will when she's tired / sleeping) although I *can* wedge it into a reclining position if I want to, but she's still in a MUCH better position in it even without the wedge than in previous car seats. It's also got a longer leg part so her legs and bottom are positioned to encourage her pelvis to sit in the correct position. It's fabulous! :-D

We're now counting down until "santa" comes, and Alyssa's so excited about it all. This is the first year she's really been aware of it all (and hopefully we'll get a hospital-free christmas/new year period) so she's basically just stopping and screaming every time she sees a Santa picture/card! It's hilarious, but also nice to see! We've been through so much, her and I ... it's just brilliant to see her doing what most other kids her age do at this time of year. It makes me so happy to see her little face light up, that's what Christmas is all about in my opinion! Watched her Nativity play this morning with her nursery class (recorded it, obviously!) and it was just brilliant. She wasn't well enough to do much (other issues I haven't even posted about here today) and wouldn't get dressed up, but her special aide gave her some tinsel and she wore that on her hair to start with like the other children, then ended up with it round her neck ...! Until she realised she could scratch with it of course!!! So poor "nana" and "gran" spent a deal of the play quietly trying to get her to stop scratching with it ... which she pretty much ignored! She's just too smart for her own good sometimes!

Wow! See what happens when I don't get a chance to post for this amount of time. Must make a mental note to update more often (I see a pattern here ... and am pretty sure I've said this once or twice in the last few posts!). Perhaps it should be my New Years' Resolution ...! Thanks to everyone who reads our updates, and thinks of my special girl. And a Merry Christmas to you all xx

Exciting stuff!!! :-D

2010-10-22T19:25:00.004+01:00

Well! As noted in the News section as well, today's "cheque presentation" was fairly stunning ... and produced a staggering amount of money! Which put us well over the target amount required for the Sensory Room Project to get underway! In all honesty; I was a bit overwhelmed by the amount raised! It's just so amazing to think that two people - who didn't even know us a few months ago - got on their bikes and cycled the entire length of the UK, to help us raise money for Alyssa's special padded Sensory Room!!! AND they are just lovely, genuine down-to-earth guys who wanted to challenge themselves ... while raising money for a worthy cause at the same time. We are very grateful that they chose Alyssa to be their cause! :-)

The housing association wrote out to me at the beginning of the week to say that their part of the work needed (the actual building changes which need to be done before the sensory guys can do anything) will be done in the next week or so. They are aiming to have everything (including the new air con / heating system installed) by the 25th October, so they should be making an appearance very shortly. Once that's done, I can contact Sensory Plus again and literally just book a date for it all to go ahead. They will be able to fit the padding and special lighting equipment in one day, or two days maximum so it shouldn't be too much longer before Alyssa has her very own Sensory Room. I can't wait to see her little face when the spare room is transormed from a basic 4-walled area into a padded lighting haven! :-)

Thanks to all who have helped us reach this goal. The money which is leftover once the Sensory Room is built (and that which is raised next week at the Bring and Buy Sale) will go in her fund for the next New York trip, scheduled for some point next year. I am hoping - dependant on the date picked for it - to attend the next HSAN conference held by Dr Axelrod, and will see her while there so that was going to be our next fundraising project anyway. We will now be ahead in terms of the amount required for that!

Wow!

2010-10-19T15:17:00.002+01:00

It's been so long since I've written that I already know where to begin! So much has been going on here (not all of it good unfortunately) that I've struggled with updating the blog, and allowing the good news to shine through.

The boys (David and Richard) successfully completed their enormous challenge of cycling from one end of the UK to the other - not without personal injury I might add - and we are extremely grateful to them both, for their endeavours! I had hoped to update on their progress whilst in Spain but unfortunately was only to find that the internet access was rather intermittent. By the time I found a reliable internet source from which to update: their journey was almost at an end; David's phone had died, and no more updates were being received from them ... so it seemed easier to just come home and do it properly. Then - as always - life with Alyssa got in the way! My apologies to the boys (and to all who read my blog) for it taking to long to update this, but it is often very difficult to get in the mindset required, to update this blog as required. And unfortunately I am human, and just cannot face putting those things in writing.

There is to be a cheque presentation ceremony - with pictures (of course!) - on the 22nd October (this Friday), where the full amount raised by the boys during their sponsorship period will be announced. I will endeavour to update here as soon as I know the amount, as David (and presumably Richard as well) would like it to be a surprise. I am perfectly happy with that, as any amount raised is a big deal to us.

With respect to the actual Sensory Room status: I have received confirmation from the housing association that the building work they need to do before the padding can take place, is set to happen in the next 10 days. So we are literally just waiting for them to turn up ... which means I now have to clear out all the stuff I've been stockpiling in there, for the "bring and buy sale" happening in a couple of weeks ... also to raise money for Alyssa! Oops ... maybe I should get started on that now! :-S

Alyssa herself has had a lot of issues over the last few weeks and we have had quite a few recurring - and some new - challenges, put before us. I am still trying to find a way to remove her gut/rectal pain, which unfortunately has not decreased any and have been trying to video her during the worst periods ... which makes for uncomfortable viewing. However; I am hopeful that the specialists involved with her care will be more focussed if they actually witness what she goes through each time she needs to have a bowel movement, instead of trying to convince them of her pain by my description. I shall try to update again after this weekend; and do a full update on Alyssa and her multiple issues, but for now shall leave you with this short one. Thank you all for continuing to read about Alyssa, and for helping to support her

xx

The guys ...

2010-09-05T00:44:00.002+01:00

The guys (David and Richard) set off on their mammoth cycle from Lands' End to John O' Groats yesterday morning - and are hopefully sleeping right now, while I type this - and had a minor fall, but with no-one injured thankfully. David called me from St Ives for a progress report and to just check in on Alyssa and myself (as he very kindly contacted ALL the local and major Scottish newspapers just before he left for England ... leaving me with the publicity fallout!). So we've had quite a few photos taken in the last few days, as well as an interview with the Scottish Sun newspaper! Alyssa obviously took to the limelight better than me (no doubt helped by her Aunty Heather's constant photograph-taking, which is turning her into quite the little poser!) and lapped up the attention ... while I tried not to make the compulsary smiling shots of me look "forced."

I am hoping to update every day while the guys are cycling but - knowing Alyssa - am aware that this may not always be possible. However; David has set up a brilliant blog for the journey called "Lejog for Alyssa" (link below) where he will update (via his lovely fiancee Helen) the day's stories as they go. So a huge thanks to Helen McLean also, for her support while David and Richard undertake their challenge. Alyssa blows you kisses! :-)

I am also really excited to mention that - despite my hatred for all forms of photography (where I am the subject!) - I have already been contacted by another mum of an HSAN child! I am still waiting for the full details; but am presuming that this family also lives in the UK, and will be the first UK family with HSAN we have had contact with. I have always been aware that there are a couple of children in the UK with HSAN (various types; different to Alyssa, but still with the pain insensitivity as the main similarity) but despite my best efforts to contact them, have so far been unable to do so. So I would also like to thank David for pretty much completely ignoring my pathetic attempts to refuse the media interest, and going ahead with it all anyway. I have found another HSAN family from it, and that - in my book - more than pays for any donation we could receive via the story. To have another family who truly "gets it" is something that has no equivalent monetary value, it's a priceless commodity.

Ok, as I'm going to be updating fairly constantly over the next couple of weeks I'm going to keep them as short as possible. And will be back with you again ... very soon!

As always, thank you for sharing our journey x

Well ...

2010-08-25T15:02:00.003+01:00

It's been ages since I last updated but only because I was hoping to give a report on the MRI findings. Sadly; those are now in, but still - typically for Alyssa - confusing to those who have seen them so far ... and the paediatrician wanted the entire team (neurology, MRI and radiology, pain specialist etc) to discuss Alyssa's results at their next weekly MRI meeting. I would rather wait until it is clear what the results are, and what they mean before I post them here ... because the findings could well be coincidental, according to the specialists. Meaning they may not be relevant to her issues.

I would like to give a huge thanks to David McCabe (one of the osteopaths who have "adopted" us recently), because - through him - we were involved in a fundraising "Fight Night" organised by Cumbrae Tae Kwon Do which was also to help raise money (and awareness) for Alyssa and her problems. The event took place on Thursday 19th August 2010 and was an absolutely brilliant night, with Alyssa being the star of the show! Despite the fact that the night was really to celebrate the fact that the Korean Olympic University Team were there, teaching the students their moves and also doing a demonstration! Alyssa had them (literally) jumping and dancing on command, by the end of the night! :-) There were quite a few dignitaries there that night also, and I cannot thank everyone enough for the support they showed to both myself and also to Alyssa. The event raised almost £400 ! so was a very worthwhile event, and the Cumbrae Tae Kwon Do team have made Alyssa their mascot, and plan to raise money for her on other occasions too. They presented her with a giant bulldog at the end of the show (almost as big as her!) which she carried back to me, grinning from ear to ear!

To visit their website, please visit: www.cumbraetaekwondo.co.uk and you can find out more about their team, as well as see some photos taken on the night - of both Alyssa (and I!), and of the Korean athletes! Thank you to all who were involved, we are truly grateful!

Alyssa is currently transitioning from the family centre to the nursery, so it has been a stressful few weeks while we waited to hear about the Special Aide (SA) which Alyssa was being allocated, and how well he or she would respond to Alyssa's many needs. I was absolutely delighted to discover that she was being allocated a woman I have known my entire life (and who has seen me grow up, living in the next street) whom I know very well!! That took a lot of the stress away, because I know I can trust her completely with Alyssa, and that she will learn what to watch for with Alyssa. She is a very experienced SA and is coping very well with all of the information she had to take in, and also the practicalities of dealing with a child like Alyssa. It's early days yet, but Alyssa has really taken to her too ... so that obviously makes it easier for us both too!

Her new bed is new once again! In that the part that was designed incorrectly has now been sorted. Instead of just trying to adjust the previous bed (which was still brilliant, but not very easy for me to get into!), the company who custom built it just decided it was easier to make a completely new one! So Alyssa is happier again, I am happier again and she still has a very cool "bouncy castle" bed that she can't fall out of, hurt herself on, or get her arms caught out the side of!

We are finally attempting a holiday!!! I have not gone on holiday (out of the UK) in over 4 years and I'm still quite stressed because it's the first time I've attempted it with Alyssa, but we're going with her Gran, Papa and Aunty Heather so Alyssa and I have plenty of help (well "staff" really lol!) and I plan to do not very much, while hopefully getting some sunshine! Alyssa will hopefully sleep through the hottest parts of the day, and have Aunty Heather at her beck and call ...! Bliss! ;-) We'll see if it works out that way though!

David McCabe and his colleague Richard Frost are setting off from Lands' End on the 4th September for their "length of the UK cycle" event, raising money for Alyssa as they go. I hope to report on their progress daily if possible, and as long as I get contact from them at each stage of their trip. We are all very grateful to them for attempting this enormous challenge, and wish them well (and good weather!).

Well, sadly ...

2010-07-17T14:47:00.002+01:00

The drug trial was not successful! :-( We started it on the 28th June and she was given one dosage twice daily - while watching for the extremely dangerous side effects of the condition known as Stevens Johnsons Syndrome (SJS) - and proceeded to trial it for the next couple of weeks. I asked the pain specialist just after starting it, how long it should take to work if it was going to and he replied that I should start to see some improvement by the Sunday of that week ... and definitely by 10 days. That if we got to 10 days and there was no noticeable improvement then he would possibly put the dosage up slightly (although he felt that it was probably the right dosage for her) but that we would probably just stop it. I have to admit now that I spent more time watching and looking for signs of a reaction (being completely paranoid!) than I did watching to see if her pain lessened when she had a bowel movement. The Sunday came and went with no improvement whatsoever ... and then so did the 10 day point.

We agreed that as there was no improvement at all that there was no point keeping her on a drug which - if not helping - could only be doing harm, and the decision was made to wean her back off it. I was sad but not particularly surprised to learn that it hadn't helped her. Her nerves just do not function the way they are meant to, unfortunately. And we discussed what the "next steps" would be, which we've only vaguely talked about previously. Basically; we are running out of drugs which could/would potentially help Alyssa, and are now having to start look at things like injections (of something like local anaesthetic or botox) into her bottom area, to see if this will block the nerve pain she is experiencing in this area. However; because her nerves don't work like everyone elses' this also causes concerns for the medical team, because they are not sure what else injections like these might do to her.

It's a bit worrying for them to try and remove pain ... from a child who doesn't feel any! :-S

Good news we've had this month is that Alyssa's bed has arrived!

And - despite there being some technical issues with the design of it (because the opening end is not quite what we wanted, but this is being dealt with) - Alyssa LOVES it! She calls it her "bouncy castle bed" :-D because it's made of the vinyl-covered foam that's in the soft play centres, so looks to her like a bouncy castle. It's been made with two different shades of pink (her favourite colour) and has a little window for her to see out ... and us to see in! She especially loves the window!

Alyssa is also having an MRI this week - to rule out any other potential diagnoses, such as a spinal or disc injury, or spinal lesion - so she'll be having another GA. We're fairly sure that it will turn out to be normal, but it may just show another reason why she's suffering this nerve pain. And at least - one way or another - we'll know what's going on with her lower spinal area. I'm a bit nervous about it, but she's had many GA's and always been fine so see no reason why this one will be any different. We have another couple of fundraising events coming up in the next few months, so will be posting about those shortly, but will obviously update after the MRI once I know what the results of that are. I don't think we will get immediate results, but should get them once her paediatrician has her.

Thank you to everyone who continues to support us, and sends their love in Alyssa's direction! xx

The drug trial looms ... and other things!

2010-06-27T21:12:00.002+01:00

First of all, the sponsored hill walk (I should CLIMB, because it was not a mere stroll up the hillside like myself and my volunteers - or most of them - were expecting!) was a huge success. We've so far raised around £3500, with money still coming in so I'm absolutely delighted. And VERY GRATEFUL TO EVERYONE who got involved - whether that was from walking it with us, donating towards Alyssa's Sensory Room fund, or supporting us and promoting the event as much as possible! Thank you for getting us that little bit closer to the sensory room!:)

The rest of the month has seemed to drag on forever, but we've finally made it to the drug trial - which is tomorrow! Her pain has decreased to some extent (which is obviously a good thing) but only because her appetite has significantly decreased also. I don't think she's actually aware enough yet to work out that if she doesn't eat, she doesn't need to poop (which is what causes the pain) but when this all suddenly became severe, the pain always seemed to be around mealtimes ... so she obviously wouldn't eat because she was screaming in pain. Gradually that reduced - as her appetite did - and she was just exhausted after screaming and trying to hard to get the poop out ... so couldn't be bothered or didn't have the energy left to eat. And now she just doesn't really have much of an appetite. :( She's lost a fair amount of weight in the last 8 weeks, which unfortunately has led to other complications.

Because she has such low muscle tone anyway, she's lost a great deal of muscle mass in the midst of this .. making her even more unstable than she was to begin with. So she's falling over lots more again, very wobbly when she's walking (and loses her balance at the slightest thing), getting tired much quicker than is normal for her and having entire days where she doesn't want to do any physical exercise at all. Or WALK ... at all! Not great for her, OR for me because she just wants carried all the time. My back is very sore again, but she doesn't understand that carrying her gives me pain. She just doesn't want to do it! Her special lycra suit does still give her a bit of extra support and strength, but the weather's been too hot recently to let her wear it for long because she then overheats (and again, tires to the point of exhaustion), but it's also baggier on her now since she lost weight. So the pain she's feeling has really affected every aspect of her life. Which kind of sucks!

The drug trial: Have to admit that I'm getting a bit nervous now that we're starting this drug tomorrow afternoon! Getting what you want is a double-edged sword at times (not that I would ever WANT what she's going through, but the drug trial is a necessary evil - given we can't seem to find any other way to ease/reduce/remove the pain she is feeling) ... and the potential side effects are something that must be weighed up against the potential gain of giving such a drug. Now the drug we're about to trial does have very few side effects but it also has one possible side effect that is potentially very serious, because it can cause a life threatening skin disorder known as Steven Johnsons Syndrome. She is being admitted to hospital to trial this drug, so that any such reaction can be monitored and treated as necessary but I am obviously hoping that she will have no problems with it whatsoever.

However; knowing that is also different from remembering (and knowing) that Alyssa does not react like other children, because her nerves do not work the way they should. When we trialled carbamazepine, the most likely side effect - and something to watch for - was a "skin rash" which Alyssa never got. About 3 days into trialling it, I thought she was a bit itchier than normal but it's hard to tell because she does have good and bad days so I wasn't convinced until about day 5. By that point, she was miserable and it was obvious that she was horrendously itchy ... which she showed by tearing her chest and neck open, then continuing at any and all possible opportunity to tear the flesh off herself!! It could not have been predicted because she'd never reacted to any drugs before, but I was left with no way to contact the neurologist because it was over the christmas holidays and our paed was away on holiday. Which left the other poor doctors at our local hospital ... with a child literally tearing her own skin off ... and having absolutely no idea what to do about it, or how to help her! They immediately stopped the carbamazepine but it made little difference to her for at least another 5 days - in which time she'd managed to use her clothes, mitts, the carpet (basically anything she could get hold of, or near enough to rub herself on!) to slough most of her skin off from the bottom of her rib cage right up to her chin and face. Her throat and face then swelled up to 3 times their normal size - NOT because of the drug reaction as such - but because of what SHE DID TO HERSELF on it!

You can probably imagine why I'm a bit nervous about starting the new one! They are not chemically linked in any way, but we still don't know why she reacted the way she did to the carbamazepine. It was not an "allergic reaction" in the typical sense, so the antihistamines she was already on made little difference ... and we just had to ride it out in it's awfulness ... but it also means that there's no way to know if she'll react the same way again or not. Both drugs are sodium channel blockers and we don't know what component in the carbamazepine fired her nerves up, but she's also had Gabapentin - also a sodium channel blocker - and was fine on it from that aspect. She just had too many other unbearable side effects, without seeing enough benefit to stay on it. I have to just continue to be cautiously optimistic that this time we'll be lucky, and she'll be not only "fine" on it ... but that it will reduce/remove her pain, with no side effects.

Keep everything crossed for us as we begin this new journey tomorrow! We'll probably need it!

It's been an "up and down" week ...

2010-06-04T22:23:00.001+01:00

It's just been one of those weeks where if I was asked how things were from day to day - or minute to minute at some points - it would have been a completely different answer!

Should start with the good news! Seeing as it's so rare here. The police presentation was a lovely event for Alyssa, where she ended up being the star of the show. Not only did they all love her, but she made everyone laugh when she didn't even accept the cheque when it was being presented to her ... because she'd spotted the table full of cakes on the way there! She completely ignored the Chief Constable and grabbed a little cake instead! Heh! Just shows that paper vs treat wins in toddler mode! ;-)

I'd like to say a huge thank you to the police at this point however; as the cheque they presented us was for £1000! A huge step towards Alyssa's sensory room, and one we are extremely grateful for! There was an official photograph taken so will hopefully have that too, but it won't show the quality moment where it was just about to be taken with everyone doing their best not to look too serious (and failing miserably) .... and Alyssa suddenly shouting "CHEEEEEEEESEEE" which just made everyone burst out laughing! Then she was very proud of herself and did it for both the follow-up shots! She's such a little character! ;-)

Unfortunately; that was the only really good part of the week because the "screaming" episodes were back in force - particularly through the night, whenever she needed to poop. I got to the point where I genuinely didn't know what felt worse: being up 4-5 times throughout the night and just having to ride it out until she managed to go, so having totally broken sleep .... or actually getting most of the night's sleep ok, only to be woken in a complete panic - with the compulsory adrenalin rush - when she woke up screaming in pain! The latter felt worse and by Friday, I was absolutely exhausted! I'd given up all hope by this time that the gabapentin was helping - it still seemed to be taking the edge off slightly and her behaviour had definitely improved on it, but she was still not "herself" on it yet suffering almost as much pain as not being on it.

In total desperation; I called Alyssa's paediatrician and we debated the potential options (I use the term "debated" very loosely this time round, because I was so tired and emotional that I wasn't capable of thinking very clearly or objectively). It was mostly her asking me questions and for what my thoughts were (ha!) then us agreeing to try the latest of her drug suggestions, which this time meant withdrawing the gabapentin - which was making our lives worse instead of better, NOT the idea it was given for - then trialling a new gut relaxant drug which would in theory help to reduce the spasming pain she feels when she needs to poop. And a sedative for overnight - to let BOTH of us get some rest! I had to wonder if that would actually work anyway, as Alyssa has proved several times in the past that drugs used on her can have the opposite effect from that intended! So I worried that instead of a restlessly sleeping child who then wakes screaming in pain, I'd have a child who was just hyper and unable to sleep altogether!

Something else she suggested - as more of a distraction technique than a real "pain reliever" one - was to buy Alyssa some particular toy/teddy that she kept specifically for when her pain was occurring. To then try and get her to associate that when the pain comes on, she automatically reaches or asks for the new toy. So I bought Milly! :-) Milly is a pink stripey fluffy "baby" cat (she's obsessed with babies at the moment, particularly baby animals) and she took to it really well. She is aware that Milly is not actually taking her pain away when she hugs Milly, but the idea's been pretty well memorized by her already. She doesn't always want Milly, but there are a lot of times where she'll ask for her ... so the connection is there somewhere already. A brilliant suggestion, if I'm honest!

Fortunately on Friday night, she didn't turn into a hyperactive maniac! She was exhausted by bedtime on Friday anyway however, so I couldn't be sure that the sedative was actually helping - and we were still up with her screaming at 6am Saturday, although I eventually managed to get her to fall asleep again and we had a long lie until nearer 9. I thought she might still be a bit woosy in the morning but she was IN GREAT FORM!! And I'd actually noticed a big difference in her mood and behaviour as Friday progressed and I didn't give her the gabapentin, so she was much happier by Friday teatime too. Last night; despite it being a lot later when she went to bed (I took her to the shows/fairground and she had a ball - something she doesn't get to do enough of!), she was restless when trying to fall asleep. But once she finally fell asleep, she was settled for the rest of the night. Again, she woke crying (but perhaps not quite screaming) at 6am but I got up ... and she fell asleep again! So *I* was awake and ready to start the day, and she'd gone back to bed! Saturday morning; we also had a brilliantly lazy morning where we watched tv, ate at leisure and just took things moment by moment. She was so happy, it seemed surreal! :-) Obviously, she was still having "episodes" but she was so happy in between these episodes that they were much less noticeable! I LOVE it when my beautiful girl is this happy, it's so rare and heart-melting, and nothing else quite compares to that proper laugh of hers when she's having fun! After her nap, things went downhill quite a bit unfortunately and she lay on the rug (with lots of cuddles on and off, every time the pain kicked in) most of the afternoon, until she pooped repeatedly some hours later!

The rest of the week was VERY up and down unfortunately, with most of the good parts being spoiled by the bad parts. Have had many incidents of Alyssa lying on the floor in the supermarket, outside the chemist, my driveway .... all because she was doubled over in pain - trying to poop! In a way; that's slightly better than it sounds because I've been teaching her to try and sit - or lie - down as soon as she feels it coming on her (and it comes on suddenly, and frequently) so that she is not collapsing, and smacking herself on the ground when it comes on. So it's not exactly brilliant, but at least there have been less head injuries this week! It's always so annoying that this is the type of thing that I have to look to, in order to find something positive to say about our lives! *sigh* :-(

However; the pain specialist is back on Monday (have we really managed to ride it out for 2 weeks?!? Some of that time has felt like forever, but it also now seems surreal that we're almost there). Alyssa has more nerve conduction tests being done on monday by the neurologist (to check how her nerves are sending signals, because she is on Thalidomie - known for causing peripheral neuropathy or a type of nerve damage, which would ironically normally present as pain but which in Alyssa she may not show any symptoms of. So far; her results have been normal so we hope that this will be the same result on monday, but I am also hopeful that we may catch the pain specialist on monday at the same time. Seeing both the pain specialist and the neuro together is much easier for everyone, because they can debate potential treatment options or risks all at once - instead of having to wait for third hand information from me, or until they have time to access the MANY e-mails which fly back and forth regarding Alyssa! So ... hoping to have a date for admission next week, for the next drug trial which we have waited very anxiously (and painfully - in Alyssa's case) for!

The sponsored hill walk up Ben Cleuch is this Sunday, so I'm trying to convince myself that it's going to be really easy! ;-) It's already looking like it's going to be raining all day, but hopefully it will just be a little cloudy or perhaps some light showers. Have had a couple of volunteers unfortunately had to pull out last-minute but for unforeseeable events, and totally understandable and we still have a pretty big group - and lots of supporters!

Thank you to everyone who has either volunteered to walk this walk, sponsor us, donate - especially from other countries (you know who you are!) and just for everyone else who has supported us in a variety of ways ... or are already planning the next event for Alyssa! She isn't old enough to understand it all yet, but I appreciate it, and so do all of Alyssa's family and friends! xx

So .... it's back to the drawing board in some ways!

2010-05-19T11:45:00.003+01:00

It's looking - once again - like Alyssa is suffering from a condition called Paroxysmal Extreme Pain Disorder or PEPD for short. This basically means that sufferers get intense and excruciating pain at times, mostly related to bowel movements. Some sufferers - presumably those without an already existing Pain Insensitivity or Indifference like Alyssa - also get pain around the jaw or eyes, and flush in these areas before the pain begins. Alyssa has never really suffered either of these problems because her peripheral pain response is abnormal, and she only reacts to "cold" in her eyes ... she does not react to stimuli which the rest of us would find painful.

Today would be a prime example of that, because she was playing with flower pots and potting soil and using the trowel to scoop soil from them. She flipped it up at one point and ended up with soil all over her face ... including IN her eyes! She just seemed a bit surprised that she had dirt all over her face, didn't even notice that her eyes were full of dirt. Her gran and aunt were also there and we at first thought she couldn't have much in her eyes, but I wanted to check anyway because I'm aware of the possibility of her getting something in her eyes and it causing damage - which could lead to her going blind. When I got her inside she was still pretty much unconcerned about her eyes and - just as I was about to get some baby wipes out to clean her up and check her eyes - she started trying to rub them! I freaked out because by this time I could see that underneath her lower lids, her eyes were FULL OF DIRT!!! She didn't care at all and was about to rub her eyes, and rub the dirt all across the surface of her eyes!

It took about 20 minutes to get all the dirt particles out of her eyes with the baby wipes (which she told me was "a bit itchy") but that to anyone else would have been excruciating! I no longer have to wonder if she really doesn't feel pain in her eyes, because I've seen it for myself today! :-(

Anyway, back to the "screaming" that's the current hellish situation we're in. Spoke to Alyssa's paediatrician as soon as she was back and - after doing some research - she felt that the neurologist was most likely right away back at the beginning, and that the most likely explanation for this sudden intense pain and collapse was due to Extreme Pain Disorder. She recommended that I immediately start Alyssa back on Gabapentin (an anticonvulsant) because it was the closest equivalent to the only known drug which helps ... but which Alyssa has already been trialled on, with horrendous results! She had some sort of reaction to it - still not sure if it was "allergic" or just that it fired up her nerves, but not in the way it was meant to because of her unusual nervous system - but whatever the reaction, it caused her to get so much hotter and itchier than normal that she burned (with friction from her clothes, mitts etc) all the skin off herself from chest to throat ... and wouldn't stop! By the time she was taken off the drug and she started to calm down, she looked like she'd been severely scalded by boiling water ... and she healed in exactly the same way, with scarring to her chest and neck! :-( So there was no way we were going to retrial it, and went with the Gabapentin while we looked into the other possibilities. Saw the neuro, who also said that either Gabapentin or another drug were the best options. Alyssa hadn't really been on it long enough to know if it was helping or not so we decided to continue it until I could see the pain specialist or consultant in anaesthetics this week.

Alyssa had already been on Gabapentin before and - barring a relatively short-lived "falling over" period when we first introduced it but which lessened as soon as we reduced it - we didn't have much in the way of side effects. She did have constipation issues, but she has those anyway and with all of the drugs she trials, they all seem to affect her digestive system. So I didn't expect any problems! O ..... M ..... G!!!!!

Not only was she falling over CONSTANTLY this time round (and on a lower dosage than previously!), her mood changed completely from a happy and well-behaved though somewhat "toddleresque" at times to the toddler from hell! She was argumentative, demanding, refusing completely to do anything asked of her and deliberately doing the opposite of anything she was told to do. Now that doesn't sound too bad does it? A normal toddler? NO! In the world of Alyssa, that included things like her smacking her head off the concrete floor repeatedly, because she'd been told not to! Or taking off at full speed when asked to come over, resulting in yet another fall or injury sustained from wall/door/object (take your pick!). The amount of injuries she's received in the last couple of weeks are just awful. The Gabapentin not only made her disorientated (more than normal) but it obviously tired her, but made her hyperactive at the same time so the more tired she got, the more determined she became. She literally could not sit still, and would fall even sitting in a chair! The first few days were absolutely horrific, with me LITERALLY following her about constantly because she was falling over so often and injuring herself. The family centre where she attends a few hours each morning have done more Incident Reports in the last week than they've done all year for her, as well as also pointing out her mood changes! (they jokingly threatened to exclude her for bad behaviour, though know it was down to the medication).

Those side effects have calmed somewhat thankfully but she is still falling over much more than before, and still walking into things and hurting herself constantly. The special padded room we're fundraising for would have been a godsend at the moment, but unfortunately isn't built yet. I could only truly relax when she was in her cot for those first few days and couldn't go anywhere or do anything to result in injury, but even now am having to be much more careful when she wants to go outside because she's still smacking her head on the ground when she goes down, and still hitting herself off doorways/walls outside too. She's fallen and left marks on herself at least ten times today, without exaggeration!

I was also concerned about the increased level of sweating Alyssa was doing as the gabapentin was increased (usually a precursor for her tearing herself open somewhere) and when I saw the pain specialist this week, I mentioned that I was concerned about increasing it more when she seemed to be getting more and more sweaty. I know she didn't do this last time round so wondered if the gabapentin could be interacting with another medication that she wasn't on at that time. The pain specialist said that the manufacturers of gabapentin say that it reacts with nothing ... but as to whether that's true, or just that it's undocumented is hard to say. The neuro only said to me last week that we should always try to check for potential interactions of all Alyssa's meds before we introduce another one ... BUT to also remember that very few people will be on all of the ones she is on, so there is very likely no information on them. And she is also on most of them for reasons other than those originally prescribed, so again the information will be limited if available at all!

Anyway; we're both a bit skeptical that it's doing anything so he initially wanted me to just stop it, but I'm hoping it's at least taking the edge off her pain. She initially seemed improved in that area, but it may just have been the sedatory effects for the first few days as is generally the case with Alyssa and most drugs which act on her CNS (central nervous system). The other option is to try the lesser used drug (ie less is known about it, other than it's good for rectal pain) but for this, she would need to be admitted to hospital because it's main side effect - if it's going to happen - is a rash. Not all people who get a rash have to come off it, but we're obviously wary with Alyssa's history. ALL rashes in Alyssa cause her to heat up; which then in turn make her become more itchy, and then the drug itself is not necessarily the cause of her skin eruptions .... but just the catalyst for her doing it herself! He said that when it works, it works brilliantly ... but we also have to remember that it could go horribly wrong (and after the last experiment, I shall always be wary of a drug that "may cause a rash"), but unfortunately he is away for a couple of weeks so she can't be started on it immediately. We agreed to keep Alyssa on the gabapentin for that period so we will at least know if it has helped or not, and then deal with the new drug and admission once he's back.

Since that time, I already know that the gabapentin is not helping because she is back to screaming and collapsing! When I picked her up from the family centre on Friday they said "she's only collapsed suddenly a couple of times" .... and it just makes me so frustrated that THAT kind of news is so typical of our lives. In Alyssa's life; THAT is actually good news, and that's just unfair! We've had a horrible day today - with many injuries as mentioned above - but also because each time she needed to go to the loo, she was screaming on and off for half an hour at a time, not always passing something each time! I'm surviving on minimal sleep because she's up through the nights with it too and again, can't always manage to poop until she's been straining or screaming for a while ... then I'm wide awake because she's been so upset that I'm upset ... and then I don't function as well when we do get up again, and still have to face the next day. I'm tired. Alyssa's tired. And none of it is fair!

I've decided that she cannot be left to just go on like this until the pain specialist returns from holiday, so I plan to phone her paediatrician tomorrow and see what other alternatives there are for the timebeing. She had offered me sedatives or different types of stronger painkillers, which are definitely worth trying until she can trial the other drug in a few weeks. They were not my first choice; I do not want my daughter sedated just because it is so difficult to help her, but I also cannot sit and watch her in agony. And for the shorter term, they are definitely a better alternative to that!

Seems a bit late to add in some good news, but maybe it's nice to end with some. The police presentation is tomorrow so hopefully she'll have a good day and we'll make it to that, and not have to get gran to accept the cheque for Alyssa on our behalf. They have been very mysterious about the amount, saying it will just be "a nice surprise" but whatever the amount, it is greatly appreciated and will be put towards Alyssa's sensory room. The rep and OT are coming out on Wednesday to have a look at the room, and design a suitable sensory-based environment for her. One which will not only help protect her from her surroundings, but which will also help t improve her current sensory impairments.

We are experiencing severe pain!!! :-(

2010-05-09T20:29:00.005+01:00

Over the last couple of weeks, I've noticed that Alyssa's discomfort when trying to pass a motion has been increasing but - all of a sudden - a few days ago, she started screaming when needing to go to the loo! S.C.R.E.A.M.I.N.G!!! Her "gut pain" has been much more obviously rectal pain for some months now; and coming on when she felt the urge to poop, but still she strained and strained excessively with discomfort but not like this. This is clearly agony to her! And when it comes on, it comes on very suddenly ... and she hits the ground like a stone! On Thursday night, she went down so fast that she actually smacked her head off the concrete !! but didn't even register THAT (despite the fact she could have fractured her skull!) because that's not the kind of pain she feels! :-(

I took her to the GP on Friday morning and explained that something different is going on, and there is something very wrong with Alyssa! We discussed her behaviour (and I brought the doctor up to speed on the history and various theories about Alyssa) and she wondered if Alyssa perhaps had an anal fissure. I explained that Alysssa has been reacting more and more lately to any touching of her bottom (even trying to wipe her clean after a dirty nappy - and especially so!) but even touching any part of her bottom causes her to say "no" and ask to not be touched! This is definitely new, as she has only ever really said it hurt when she was trying to poop - not complaining when she sits down sometimes that it hurts, that being touched anywhere on her little bum hurts ... etc etc. The GP examined Alyssa (as much as Alyssa would allow her to, although the reaction was definitely nowhere near as exaggerated as it is mid (or post) pooping, and said that the surrounding area was definitely sore-looking and red but she couldn't see anything else obvious. She asked when I was due to see the specialists at the hospital again and I said that I was told to contact the pain specialist when required, but that it was unlikely I'd be able to see him before Thursday of this week - and Alyssa obviously couldn't be screaming until then! That the neurologist had wanted to see us on the 24th but that we have the police presentation that day, so we'd arranged it for next month ... and that Alyssa's paediatrician was still on holiday! Hopefully due back soon (I think this week, but she'll still most likely not be straight back at work even if her flight is not affected by the volcanic ash situation).

The GP said to put Alyssa back on the lactulose she used to get (in addition to the Movicol we use daily) because this would help soften the stool, without causing her to cramp more - like we tend to find if we just increase the Movicol and gave me some ointment to use on her bottom, straight after she managed to pass a motion. This ointment has a bit of local anaesthetic and some steroid in it, to help both numb it and also heal the inflamed areas but recommended that she be seen again by the specialists again as soon as possible. I tried the pain specialist's secretary but unfortunately, only got an answering machine and didn't get a return call before the end of working day Friday so hoping someone will phone tomorrow. :-(

Since getting the cream and adding the Lactulose back in I thought she was a little bit better each time she had to pass anything, and she went to her dad's last night as arranged previously. He said she only had one screaming epsiode ! once through the night, but that she seemed to poop fairly quickly, unlike the night before when I was up with her for at least 20-30 minutes. And that she'd been really happy all day today, with only her "usual straining" so I figured that she was slowly getting some relief from the new medications added. However; after returning home, she was pretty miserable and just wanted to lie on the rug with me. She was gasping in pain every so often just passing wind, and was convinced a few times that she had pooped ... but she hadn't. Then - just as she was about to be put down to bed - she started screaming again! A blood-curdling scream, then begging to be helped and screaming that it hurt .... and she was pooping again! That went on for perhaps 10-20 minutes and she cried constantly while I was trying to clean her up, complaining that the wipes were hurting her and that I was hurting her :-( while I tried to change her, and put the ointment on her. She was so exhausted from the pain and the screaming that - if I hadn't been hurting her by touching her to change her and apply the cream etc - she'd have drifted off on the change mat, but she couldn't. Got her dressed into her nightwear again and got her ready for bed (socks taped on her hands and arm restraints to stop her tearing her skin off, teeth brushed etc) and put her down hoping she'd settle quickly with how tired she was. Unfortunately, she still wasn't finished and the screaming started up again about 10 mins later. Gave her painkillers, more lactulose and just had to then hold her and listen to her sobbing, begging for help and just riding it out until she finally pooped again. *sigh*

It is now about an hour since that last lot of "fun" and she has finally drifted off to sleep, thank goodness. I have been howling for at least half of that, because it's so hard to listen to your child begging you to stop her hurting, but even more so when they tell you to STOP HURTING HER! :-( She knows that I'm trying to help her, but she's also only 3 and none of this is fair!

Am I glad that "at least she's feeling some pain" like so many people ask me? Well yes, in a way I suppose so - because at least it's a sign that something is wrong with her (which is the whole point of pain, in you and I) and it's so acute and severe, that at least I know something is different from her usual gut/rectal pain ... but IF this also turns out to be something that "they" cannot do anything about, then I would rather Alyssa felt NO pain at all. To have all or nothing would be preferable to this; where I spend half my time trying to explain to doctors that she doesn't feel pain and the other half trying to get the specialists to understand that the pain she DOES feel is excruciating! There is no benefit to being able to feel pain, if no-one can solve the underlying reason for the pain (or even find what that reason is!) ... none whatsoever!

It still seems really cruel that Alyssa does not feel the type of pain that would protect her from injury (self-inflicted as well as other types), but that she feels pain that is so far unexplainable, and untreatable! *sigh* I am exhausted with all of this at the moment, and that probably means it's time to sign off again. Hopefully by the time I write again, I will have an answer for what's going on with her new severe pain ... and something that can be done about it. I'm not sure how much longer I can go on like this, having to watch her (and listen to her!) in so much pain!

Wow, it's over a month already!!

2010-04-26T19:28:00.002+01:00

It's a month since I last posted, that's just crazy! But things here have been a bit crazy! The move went well - eventually - there were a few hiccups and then a fair amount of back and forthing between the two properties and trying to sort out Alyssa's difficulties over two houses was not easy, so we stayed with mum for a few days! Mum's are handy things! ;-)

Alyssa LOVES the new house!!! :-D And the fact that her cousins can come to visit now we live in the same village again, and they can play in her room! It's so nice to see Alyssa getting to do "normal" everyday things that most people take for granted, I almost can't put it into words really! To have a child who will actually play with other children for a little while, instead of me having to supervise her constantly to make sure she is not injuring herself - deliberately OR accidentally - is nice not only for me, but good for her developmentally! Of course the fact that her cousins are 11 means that they are old enough to know what to watch out for, her younger friends are never left "in charge" of her! ;-)

Dr Axelrod (NY specialist in Autonomic Disorders) replied to my e-mail about Alyssa's strange pain reactions and said that "sometimes when the pain fibres are missing, the touch fibres are ultrasensitive in their place." So it's very possible that because Alyssa is feeling no deep pain sensation, her light touch / heat and cold / itch sensations are all hyper to make up for the fact that she is not feeling pain. I presume that this will still fit with our own neurologist's theory that because Alyssa does not have any pain to compare most things to, what she does feel is exaggerated - like the gut/rectal pain. This feels excruciating to her because she has never bumped her head (and felt it!), or had a toothache (again, and felt it!) ... so she has no pain comparison charting like most of us. It's a theory, but a workable one!

The special bed was a huge hit at the childrens' hospice! She really liked it, after an initial wariness but the girls there were brilliant with her and really made it fun for her to try out. My only issue with it is that it is a fully enclosed padded "room" with no mesh/pvc window for her to see out, or me to see in (and see what she's getting up to!) and the cctv monitor will have to be placed directly above her if I am to continue monitoring her as I do now whilst she is asleep. But it is also meant to last her for a long time and I would like to try and make her life as normal as possible, and that also includes being able to see out of a bed - even if she can't actually GET OUT of it by herself! She's perfectly happy in her cot at the moment, it's just getting dangerous for her because she's getting her arms stuck through the spars with her arm restraints on. But again, she can see out and all round her. The rep for this special bed is supposed to be coming out to see me on 8th May and I had planned to ask him then if it was possible to create a pvc or mesh window in one of the walls ... but I suddenly realised this morning that he is probably flying up to see us. If this is not a possible option, then he will have wasted a journey and that seems very unfair! So I left a message for the complex care nurse this morning, and asked her to try and find out before the arranged meeting and that will hopefully make life easier for us all.

We are currently now onto finding funding for the special "padded room" for her, including it's sensory accessories. I am doing a sponsored hill walk with a few friends - any more volunteers to help are always appreciated! - in June, which will hopefully raise some money for this and am still awaiting some reimbursement funding from the NHS board, for the consultation fees we paid for in New York.

We did get some brilliant news recently however!!! The local police have a charity ball every year and have individual causes nominated by anyone who thinks they could benefit from some funding, and Alyssa's plight was put forward by a family friend. Alyssa was picked as one of the causes to receive some of the proceeds, which we were absolutely delighted about! I have just received an e-mail (and today, a phone call!) to say that there will be a presentation on the 24th May, where the Police Commissioner will present me with a cheque! This is absolutely awesome of them, and I am just so grateful!

I had already asked if Alyssa could attend also and I was told today that they would be delighted if Alyssa could make it! :-) They were not sure if she would manage because of her health issues, but it's an afternoon presentation so I shall just try to put her down for a nap a bit earlier than normal, so we can appear together at 2pm. The lovely woman I spoke to on the phone today said she would not tell me how much the amount was, that it would be a nice surprise on the day - but ANY amount is very greatly appreciated! Hopefully it won't be too long before Alyssa has not only a safe environment to play in (and kick off, when she's feeling frustrated!) but also one which will address her many sensory issues. The OT is getting a bit excited about designing Alyssa's sensory room lol! ;-)

The food diary really just showed that the things we thought Alyssa wasn't coping well with were fairly spot-on unfortunately. She has definitely improved in regards to the things that were causing her to have diarrhoea, since the probiotics but as far as those things that were slowing her guts down and making her constipated - or causing gut "shut-down" it is mainly dairy foods, as suspected. She loves the mac n cheese from the bakers and I usually get her it on a Thurs as a treat for working so hard at OT, but there is now no doubt that her guts just cannot handle it. She is unable to poop for at least 24 hours afterwards, has horrendous gas/wind and complains of a sore "bum" constantly ... then is unable to sleep because she is so uncomfortable. As always, her dairy intake will need to be restricted. I am reluctant to remove it completely from her however, it was one of the biggest changes in getting her from "Failure to Thrive" to where we are now and I'm not in a rush to be back at that point! She is soooo much better than she was even this time a year ago, and dairy intake made a big difference to that. So I shall continue to limit her dairy intake to little amounts, and make sure there is always a big intake of fruit and veg before/during/after it to help her guts compensate for the dairy load. It seems to make a bid difference if I "pre-empt" a dairy overload!

She has a review of her special dynamic orthotic suit next week, so will be interesting to see what those guys have to say. The physio is currently looking into hyrdotherapy for her (at a temperature she can tolerate) and is also reviewing her this week at the Family Centre, before drawing up a plan for the girls there to follow. OT is taking a break, to allow Alyssa more developmental and play time with the other children - in the hope she will start to interact more with the children instead of just the adults - but is not "leaving us" by any means. She will be back with more exercises etc in a few months, once Alyssa's new home and transition to nursery are over with and Alyssa has shown she's coping well with the change. I showed the OT some pictures that I have been taking of Alyssa in her bed, with the awful positions she can get herself into and she was horrified! She asked if I had shown Alyssa's paediatrician, but I have not as yet - am merely documenting them for when she returns from holiday. The OT feels I am doing exactly what is required as these are positions that nobody should be able to lie in, and we are all worried about the longterm damage. It's a case of "just because you can lie like that, doesn't mean you should lie like that" because of the pressure and strain she's putting on her joints. Dr Axelrod advised that I should never allow her to be in positions that I would find uncomfortable, because she does not realise that she is damaging her joints. I would struggle to even get into half of the positions Alyssa does, and I was pretty flexible when I was younger! It's not just as bad during the day because - with prompting - she will sit/lie properly if reminded frequently (as long as she's not too tired!) but during the night it's much harder to stay on top of, if I want any sleep at all! Hoping that between the paed/physio/OT we will be able to come up with some way to keep her safe overnight!

Ok, rambled on long enough for one day! Will update again soon! :-)

Life is a blur ....

2010-03-23T21:18:00.003Z

I've been packing all the non-essential stuff (how come you can have non-essential stuff ... yet still "need" it?!?) and de-cluttering my little head off!!! :-D

I've been in and out of the new house (with thanks to the very kind decorators, who simply took my word for it that it was about to be my new house) so have been seeing it as it develops. It's very cool. Alyssa already loves it, and it's not finished yet. She's been "hiding" in the cupboard of the bedroom that will be hers, and she just loves that she can wander from one room to the next - NO STAIRS!!!

We're going to a special hospice tomorrow, to let Alyssa try out a Safe Haven bed and see if she's a: tolerate the material against her skin (or if we'll have to have special covers made in order for her to be in it, and b: tolerate being in it and not being able to see out (it's pretty much a big pale blue padded cot, with a detachable side so I don't have to lift her in and out), but they're all custom made for each child and their particular issues so I'm still hoping that some kind of perspex/plastic window could be put in. It's essentially a mini room, that she would be able to sleep in (freestanding, or raised - our choice) without falling out, hurting herself on cot bars or standing up and falling over edges, like a normal bed guard. Will only know what she thinks of it once she tries it tomorrow, but she's pretty excited about getting to try out a new bed! ;-)

The OT (did I mention I love her already!) has offered to come out to the new house once we're settled, and help me design the special sensory room - with equipment that will specifically help Alyssa, and her needs!!! Alyssa is VERY happy with this, because she's in love with the OT lol! Can't wait to have her over to her "nooo houuuuuuuuuuse" ;-)

Alyssa's guts seem to have settled down again now that she's had the course of probiotics, so very pleased about that. Still doing the food diary though, to just see what types of things she is more sensitive to but glad she's back to "her" normal as I can adjust her medications accordingly if I know how her guts are going to behave.

Haven't really talked much about her actual Pain Insensitivity for a while, and her perception seems to be changing in some respects. She is now reacting strongly to anything contacting her legs and feet (things scraping/running across/being lightly bumped against) yet not reacting in the slightest if she falls and bangs her knees/ankles or feet. Most confusing! She screamed the place down the other day when I accidentally stepped on her foot (with no shoes on) and it took me almost 20 minutes to calm her down, but she fell the following day and collapsed on one ankle but didn't show any concern whatsoever - and I was worried she'd broken it! She still doesn't care if something cuts/tears/scratches her arms, hands, upper torso or head (unless she sees it happening, then she'll tell you - but not in a distressed manner, just as a "matter of fact") but the zip on her special suit hadn't been fastened properly yesterday when I collected her from the family centre. I didn't realise this and when I unzipped, it caught the skin on her thigh and she screamed before I even realised it had happened! Normally, I know it's happened before she does (sometimes I am the ONLY one who realises it has happened!), so something is definitely changing.

However; because she still doesn't react to things she SHOULD do - like banging her head really hard, falling and smacking her knees on the concrete, or landing on her neck and not complaining, I am convinced that it is a "skin sensation" issue - not a deep pain perception issue. I have e-mailed Dr Axelrod (the specialist we saw in New York) for her opinion on my confusing and conflicting child!!

Ok, that was probably short and sweet .... but have loads to do. Hoping to move ASAP!! :-)

Wow!

2010-03-14T23:54:00.002Z

Can't believe how long it's been since I posted, it's pretty much passed in a blur!

Things have been up and down (as always) and it's always difficult to know exactly what to post about when it's been this amount of time *makes yet another note to self to get on here more often* ...!

Alyssa's doing relatively well. She currently has a particularly nasty bilateral conjunctivitis (both eyes have pus pouring out of them) which resulted in a "fun" conversation with the pharmacist, when asking for something to treat them with. Fun meaning looking at me like I was from another planet!!! Alyssa's hypersensitivity to cold not only extends to her eyes, but is magnified by what seems like one million percent (as discovered from a previous eye infection, and attempts to put eye drops from the fridge onto her eyes!), despite her not feeling "pain" in them. She would not care if she had an eyelash, grit or presumably anything sharp stuck in there ... but try to put anything cold on her eyes and she will literally scream as if she is being burned alive. Or stabbed in the eye with a fork! Multiply that by four times a day, and there's just no way we can put cold eye drops in there. It's like torturing your own child, with her going rigid and on the verge of clinical shock - just from eye drops! It's not a pretty sight, and not one I'm in a hurry to repeat unless there is no possible alternative.

After explaining all that(to a very raised eyebrowed pharmacist) he went off to find a suitable ointment, which did not also need to be stored in the fridge. I knew from my former life as a veterinary nurse that there were indeed some, so was happy when he came back with some. Almost immediately after putting them in the first day, she was much improved and has been really improved since ... until I forgot to apply it this morning and lunchtime. By the time she got up from her nap so we could go out for Mothers Day lunch/dinner, the pus was already back with a vengeance and pouring out of her eyes again! :-( That doesn't bode well, considering this is day 4 of what is meant to be a 5 day course! Looks like we could be phoning the doctor - or even the eye specialist - tomorrow.

What else has happened since I last posted?!? Saw her paediatrician, who did all of Alyssa's "developmental milestones" because we haven't done them for a long time (there's always so much else going on, although we obviously note anything of significance at the time). Alyssa scored not too badly on most things. She's slightly delayed in most things and scoring ahead in her "hearing and language" or understanding - which is no surprise to those of us who know her! She's a cheeky little minx, who seems to have been here before! The only area she scored significantly delayed in (and one which was no real surprise) was her motor skills, or her physical development. She is scoring at about the equivalent of an 18 month old when it comes to physical tasks - running, jumping, skipping, climbing, lifting her legs etc - and although that's perhaps shocking for some of you to hear (especially those of you who have met her and have seen pictures of her) I would actually say that's pretty accurate. She knows herself what her physical limitations are, and is starting to "self-restrict" in group activities that involve any form of physical input.

Her brain is so busy trying to cope with blocking her attention to the gut pain, trying to remember to maintain a normal posture, ignore the itching and deal with her many balance/proprioception issues as well as whatever task is being asked of her, that she struggles to keep her body positioning in a manner that allows her to keep her hands free to actually do the things she wants to - even if that is just painting, drawing or doing puzzles. But it mainly affects her playing on regular playground equipment, ride-ons and other "toddler" toys. However, her OT and I are working on that and hopefully it won't be too long before she is starting to catch up.

The OT is brilliant!! I love her, and so does Alyssa! (I am told that the OT is her "best friend in the whole wide world" every week, when we're on our way there and even sometimes at weekends ... when she's hoping we're going to see the OT! And that's really nice, because she works really hard but still thinks it's fun and wants to keep going back every week.

We also attempted to take her to physiotherapy swimming again! With the wetsuit and water shoes that was recommended by the specialist we saw in New York (to prevent her having skin having to come into direct contact with both the water, and also every other cold surface that automatically exists in a pool environment). It went slightly better than I expected it to, although it was still really stressful - for me, but more so for her. She was lulled into a false sense of security by having the wetsuit on, because she could actually sit/lean/touch the surfaces in the changing areas which she couldn't do last time, in just a swimsuit. I couldn't put her down anywhere because everywhere was "cold" and that to Alyssa is just unbearable. This time round, she was perfectly happy (and quite excited) by the time we got to the poolside. Last time we were there, the pool was pretty warm so it hadn't occurred to me that it wouldn't be this time. Unfortunately, it was quite cold and - despite the wetsuit - she got a complete and utter shock when she impacted the water, and started screaming! She asked to get out, begged to get out, demanded to get out, pleaded to get out .... the entire time we were in the pool (approx 40 mins) but did also manage to kick her legs a bit "like she was swimming" :-) a couple of times, and did some of the exercises the physio asked her to, but she was not happy the entire time.

I persevered and distracted her as much as was possible, and knew she's really had enough when she went limp and looked like she was going to sleep there and then! However, the stress was clearly too much for her - as well as the work done in the pool itself - because she was absolutely exhausted when we left. And even by the weekend, she was still suffering! So we need to look at a: a warmer pool, b: a better timeframe for the session, because she's usually asleep at that time of day anyway (and NEEDS that sleep) and c: a physio class perhaps on a one-to-one basis, where only her needs are being focussed on. Swimming would be the ideal way for her to exercise, if we can just get past the extreme sensory ones. The OT and physio are working on those options though, I just can't bring myself to make her go through that week after week.

We also have BRILLIANT news though! I've finally got the house I've been waiting to hear about for months now. It's a 3 bedroomed bungalow where I'm from so we'll be in the catchment for her nursery once she finally goes, it's completely flat so I won't need to be lifting her up and down stairs once we move, and I'll finally have the extra room I need, to create her special "padded" sensory room!!! I'm so excited, and packing already!

It's well after midnight here already, so am off to bed (she's also shouting me!) but will aim to post again soon and update on the swimming/house moving issues!

xx

Alyssa's birthday was great! :-)

2010-02-26T11:34:00.002Z

Alyssa had a blast at her birthday party, I'm delighted to say! She was absolutely exhausted by the end of it but she did really well, and the lycra suit gave her the extra support she needed and stopped her getting really tired too early.

I had to do a lot of research before I could book the party because she loves the soft play centres but we have to be very careful with her, due to the Pain Insensitivity. If a place is really busy then - because of her added low muscle tone and excessive flexibility - other kids knock her flying really easily, and the potential for injury in Alyssa is very high. The children do not mean her any harm, they are just playing as children should - but she is also unable to withstand any form of physical activity on her own either, and needs help from either an adult or one of her big cousins. The problems we faced with our local soft play centres were that either:

a: adults were not allowed to accompany children into the soft play areas, for fear of adults being too heavy and damaging the equipment (which is to some extent reasonable, but no use to us - or the parents of any other disabled child, who wants to play with the other children but needs more help than most)

b: that the soft play areas were fairly small or confined spaces so that adults struggled to get through them with her, or that if it was busy then the other children playing would injure her unintentionally (she can injure herself without much help, we don't need boisterous children injuring her as well!)

and c: that it would be too hot for her, because she heats up very quickly and then starts tearing at herself

I finally found a place not too far from us called "The Buzz" - which is enormous (our normal local soft play centre which I use when quiet would easily fit in it 4 times over!) so although I was freezing, it was perfectly regulated for Alyssa and the other children running about and playing. It had two separate soft play areas - one for under 5s and one for over 5s ... BUT it also had a very strict policy that encouraged the "more adventurous" under 5s to play in the over 5s section, but also stressed that they MUST be accompanied by an adult at all times! That was absolutely ideal for us, because it is exactly what we were looking for. There were no restrictions on adults being present in any part of the soft play area and we were all (including her 6'4 dad) able to go in and out of the play area with her. She had a ball.

They also had a "pay as you use" section with little go-karts that adults could also go in with the children, so daddy and her cousins took her in there a few times (we won't comment on her driving skills .... especially considering she spent almost all of the times looking up at us on the balcony watching her, and shouting and waving to each and every one of us ... so her eyes were most definitely not on the road!) ;-)

She had a Tinkerbell birthday cake and even attempted some of it, though was not impressed by the icing but had fun blowing out the candles. All in all, it was a good day - which she fully deserved.

Then onto the usual stuff: on Monday I had suspected she was a bit itchier again and a bit sweaty around the head area but she had also been back to her daycare (where it is hot when the sun is out so I wasn't completely sure); but by the morning of her birthday it was very obvious that not only was she scratching constantly, but that she was also sweating badly. By tuesday lunchtime she had visible sweat on her face and she was getting very hot, so I had no choice but to accept that the Thalidomide withdrawal experiment was failing. However; what was positive about the whole thing was how long she'd managed to last before starting to show these symptoms, so I figured that - at the very least - we'd manage to get away with a lower dosage of it (thus also reducing the risks of longterm Thalidomide to her system). In order to prevent things snowballing out of control like they normally do and me then having to play catch-up, I immediately started her back on the full dosage again until she settled down again (which was also very quickly!) and have now got her on a lower dosage, which seems to be enough. She is still passing a fair amount of urine overnight - and still was when off the Thalidomide completely - so I shall have to look into that when I next see her paediatrician.

She's still having lots of abdominal pain and has been really up and down for the last couple of months. I originally thought she just kept picking up one bug after another, but she is not setttling down so I've decided it's time to go back to keeping a food diary like we had to when she was really young. Am hoping that we'll see a pattern of what she's eating that's causing her worst days .... I can only hope it helps.

Off to go pick her up again now. After being up almost all night last night with her sore tummy and pooping issues, she was really bright this morning ... so will hope that the same has been true while she's been at the centre.

Things have been

2010-02-21T22:55:00.002Z

up and down since I last posted. Alyssa has had good days and bad days, but I'm trying to focus on the good days. She's been much stronger at the last two OT sessions, which is amazing to see - the best she's ever been. She was able to hold herself up on her arms while lying on her tummy, and support herself while throwing balls etc so her upper torso is getting stronger and her arms are better about bearing her weight for short periods of time.

The physio and the hypermobility nurse came out to assess Alyssa for a hypermobility clinic that's starting, and to see if they can help her from that aspect also. They got Alyssa to climb the stairs to the bedrooms (crawling - she can't walk upstairs without help and even with help, she'll only do a few before begging to stop) and then wanted her to come back down them. I explained that she normally crawls down them backwards, instead of dropping down onto her little bum like they thought she might and that she was also quite fearful of the stairs because she fell down the internal stairs in our last house at about 14 months old. She didn't hurt herself (obviously) but she got a fright, and since then has always asked for help with stairs. Her poor balance is an issue and she seems unable to move her feet to come down without toppling straight over, so crawling down backwards is definitely what she has to do .... or, just get mum to carry her down! She was too tired after climbing up them to crawl back down and was getting really distressed at being asked by the physios to come down, so they allowed me to carry her back down to the first landing - giving her only 5 stairs to crawl down. She became hysterical at still being asked to do work but I managed to calm her down and told her that if she just crawled down them, that would be it and she could rest. She asked for a cuddle, so I told her she had to crawl down to me and get one and (after a little gentle encouragement) that worked and she managed it.

Just climbing up and downstairs exhausted her to the point where she was almost sleeping on the couch while the physios and I were discussing what the plan was going to be, and she was getting really distressed because she wasn't in her bed. I actually started getting worried she wouldn't manage to stay asleep long enough to eat lunch, because we had to travel to the hospital that afternoon and I needed her to eat before we left. Fortunately, I managed to get something into her after the physios left, fell asleep and stayed asleep for the entire journey to the hospital as well. Also, saving me the added stress of trying to keep her amused and not attacking herself on the way - something which is obviously not fun, for either of us! Unfortunately, that just meant she was wide awake for the journey home ..... and attacked herself almost the entire way! Mucho stress and unhappy mother and toddler! Still, I'm trying to focus on the positive journey there! Met with various specialists in the last week to discuss Alyssa's progress. Again, a bit of up and down with those but think I'm more in tune with what Alyssa needs and who she needs, from a medical point of view.

Over the last little while, Alyssa has been urinating excessively - mostly at night - and I've been struggling to get her through the night without being completely drenched by morning (and she only gets changed for bed between 7-8, so a 12 hour nappy should be adequate), but I've been having to change her at about midnight just so I don't have to strip her completely, and all her bedding every morning. I also observed that during the chest infection and the resulting 40C degree fevers, she wasn't covered in sweat like she normally is (even on the Thalidomide, which reduces her sweating). The only thing that has changed is the addition of the drug that Dr Axelrod from NY suggested, so I realised that both drugs were having the same effect now.

As I met with the neurologist and anaesthetist this week, I mentioned all of this and proposed withdrawing her from the Thalidomide on a trial again - to see if she could manage to cope from both an itching and sweating aspect, as well as reducing her urine output. We discussed the various potential problems that may occur and all agreed that it was worth trying. We have always been grateful that Thalidomide helped her (and the previous trial of taking her off it reminded us how awful her life was without it, that I was reluctant to take her off it without having an equivalent with less potential side effects) ... but we have always known that it was something she could not stay on forever. There are various potential dangers of being on a drug like Thalidomide (some are - ironically - peripheral nerve damage - which she doesn't actually have at the moment) and although it is always a gain/benefit assessment with Alyssa and the types of medication she is on, if there is a safer equivalent which has the same beneft then obviously we want to use that. So I withdrew her from the Thalidomide on Tuesday after seeing the specialists and am to let them know how she's doing on it. After one night off it, she had a fairly dry nappy when I went to change her at midnight although still had a very full one in the morning and has had varying degrees of soaked nappies since - although still not been drenched since so I believe it is starting to have some effect on that aspect. However, the most important thing is that she has now been off it for 5 days and is not soaked with sweat OR tearing herself apart!!! When I withdrew it from her last time, by the fifth day she was absolutely soaked with sweat (hair drenched and sticking to her, sweat running down her face etc) and she just cried all the time. She was completely and utterly miserable! I found myself begging the specialists to let me put her back on the Thalidomide, just to give her a bit of peace again.

We seem to be at the same point now with the other drug (a much safer alternative!) although it is still early days, but I am feeling optimistic that we may just manage to get her off it and keep her off it. She has noticeably been scratching less since starting the newer drug, she's much more settled and the girls at the family centre she attends have mentioned that she hasn't seemed just as itchy - and sometimes it gets quite hot in there, which always makes her itchier. Now we have to make sure she IS sweating, and monitor to see if the urination continues to improve - otherwise there may be something else underlying which needs to be checked out.

Alyssa's famous Dynamic Lycra Suit has finally returned AND FITS HER!!! So hopefully, that will also help to strengthen her as well as the ongoing OT work (and she looks really cute in her "purple suit" that she shows off to anyone who's interested ... and to those who aren't really!) ;-)

Ok, think that's probably enough for now. It's late (as always) and I think I need to go change her. I am endeavouring to get on here more often again .... it's one of those situations where I really should just update at the end of each "episode" because if I don't, so much happens so quickly that I can't face sitting down to write it all. But I know that so many people out there know about and love my beautiful girl, and are keen to know how she's getting on. And there are women in the US who love her as if she were their own, and they are always waiting for updates! But also - and one of the reasons I do this blog - there are people who have found me and our little support group, because of my inane ramblings about Alyssa. And I am very thankful for that. If I can help save anyone else from going through this on their own, I will be a very happy mommy. And Alyssa will hopefully some day meet others like her.

Oh, and it's her birthday on Tuesday!! She'll be 3 and is very excited about her birthday party and her Tinkerbell cake (she's obsessed about Tinkerbell!). Will post after the birthday and let you all know how it went, and give you insight into why I chose the venue I did.

x x x

Update

2010-02-08T10:47:00.002Z

Things seem to have been more hectic in the last few weeks than they've ever been, but that's probably just because I'm living them now so my perception is that it's that way. Alyssa did get over the chest infection, but ended up getting another bout of illness - runny nose, fevers, wheezing, vomiting etc that looked like it had come back. After being checked out at hospital, the consultant we saw said she was happy that it was not a bacterial infection on top of a viral one this time round and that she felt Alyssa had another viral infection. She said that we might just have to deal with Alyssa having wheezing issues each time she got a virus - due to our family history of asthma, but I'm hoping she just hadn't fully recovered from the previous respiratory attack and was just having a minor relapse. I most definitely don't want or need asthma on top of everything else Alyssa has to deal with.

When she was given antibiotics for the chest infection; I noticed her finger nails were brown but to be honest, originally just assumed they were covered in blood - because she always has some degree of blood both on and under her finger nails, from scratching and tearing at her skin. It was only when I tried (unsuccessfully) to clean them over a period of days that I realised the brown colouring was the surface of the fingernails themselves and - when pressed too hard while trying to clean them - this layer was actually peeling off! This was a bit confusing because it's never happened before, but didn't seem to bother Alyssa and as she was already on antibiotics (as well as having so many other things to worry about, with her not well) I didn't really give them much thought - other than making sure there were no edges she could get hold off and annihilate herself! However; most of her nails have since fallen off and although she is growing new ones underneath, I think I should probably find out why it happened. I know that osteomyelitis (bone infection) is a huge concern in children that don't feel pain, because it can spread quickly to joints etc and cause real problems for them that go relatively unnoticed. As she was already on antibiotics, I wasn't too worried about that - there was no redness or swelling at her fingertips so I'm sure it's not that serious, possibly just some kind of viral reaction but one I shall also get checked out now.

Her mood has been very low since I last posted. She isn't having just as many full emotional meltdowns ie to the point where the world has ended over practically nothing (such as me wanting her to walk 10 steps, or pick up a sock she's dropped on the floor etc etc) but she's just stayed relatively miserable most of the time. She tells me constantly that she's "upset" or "sad" but can't then go on to tell me why she's sad or upset, but she still cries a lot of the time and is difficult to entertain these days. Most of the things which she really enjoyed previously I am now struggling to get her to engage in, her favourite books etc are momentary distractions which are quickly ignored and even my iPhone which she used to be so thrilled to actually be trusted with, she'll take and a minute later isn't even showing the slightest interest in. Her dad took her bowling for the first time at the weekend (once she'd stopped wheezing like at the beginning of the week) and he had two other children with him, which normally would be enough to have her smiling on it's own ... but he reported that although she was distracted for a little while, she was clearly not happy and it didn't last long before she was crying, asking to be carried about, then just wanting to go home again.

Needless to say, this is very upsetting. My little girl used to be so happy - despite everything she had to deal with - and most days now is constantly whining about anything and nothing, crying on and off the whole day and I am running out of ideas of how to cheer her up. I know how bright she is and that she is most likely frustrated by the fact that she cannot get her body to do what her brain wants it to, because of her physical limitations but she used to cope with that relatively well. Is it because she's just now getting older and becoming aware of the extent of her limitations? Is it because her low muscle tone has taken a backslide and she's now floppier again than she was even when we went to New York in Oct/Nov? Is it because she's been poorly almost all of January? Or a combination of all of these things? Nobody seems to be able to know for sure, although are guessing it's probably a combination of these things. Whichever is causing her misery, she is not quite capable of communicating it to me yet - other than repeatedly telling me how upset, sad or what a "poor girl" she is. When asked to be happy, or to put a happy face on, she just says "no" and starts crying. :-(

I am due to see the clinical psychologist again next week and still unsure if she actually feels there is an issue to be concerned about with Alyssa, as I don't always understand her perspective of the stuff going on. She is able to give me alternative theories as to why Alyssa may be behaving the way she is - all of which are perfectly reasonable and possible (especially given the fact that she is objective) - but I struggled to get practical solutions on how to actually help Alyssa in these periods, so perhaps I did not take from our time what I should have. I shall attempt to ask this at our next meeting as it is pretty much what I am looking for, in our time together. I completely understand the need to know what is causing Alyssa to have these mood swings (not that they are actually mood swings any more, just a fairly constant low mood) but what I actually need is a way to help her cope with the way she feels. If she feels this way because she is in some degree of pain all the time - again, perfectly reasonable to assume because we know she feels abdominal pain which is present most of the time - then I still need a way to help her deal with that. We are almost at 3 years now and so far, nobody has found an actual reason for her to be in so much pain internally (especially given that she seems to feel no other pain), nor a way to ease that pain; so taking the approach that we should try to get her pain under control before attempting to help her emotionally or mentally, is no longer good enough. Short of some spontaneous improvement or a medical breakthrough, then this is pretty much life for Alyssa ... and she needs to be given ways to deal with that, to help her cope. We cannot "wait" for someone to find a cure for her gut pain, there may never be one. :-(

The occupational therapist we see felt that there is another possibility also, and that this possibility is simply that Alyssa has so much on all the time that she is just not coping with it. That too much is expected of her, without anyone realising it. And that because she has to concentrate on so many things all at once, just to do "normal" things that it comes out in her behaviourally because it's the only way left she can express herself. For example, she has to remember to try and hold herself up straight (she has extremely low muscle tone and it is a physical effort for her just to sit "normally" like every other 2 year old), she has to remember not to scratch (again, something she would do ALL DAY LONG if she could, because the sensation of itchiness is present constantly - despite varying medications and trials), she has to try to block out her gut/abdo pain which is there a lot of the time ... and this is all before she can even do anything she is actually being asked to do like all the other children. It's a lot to ask of her and she is physically limited but doesn't look it so a lot of the time this aspect is easily overlooked by those not trained to notice it.

She went to what was the replacement of her christmas party last week (her christmas party was cancelled due to severe weather issues) and it was held in a gymnasium instead, which also has a "foam pit" which is basically just as it implies. there are big gaps in the floor (it was previously a swimming pool) which have been filled in with large foam cubes, and children can jump into them, bounce on them and throw the cubes etc ... while trying to wade about in the foam. There was also a session put on in the dance hall next door so that older children and younger children could be free to do their own thing, without landing on top of each other and potentially having the older children hurting the younger ones. So Alyssa was meant to go to the dance hall first, and have some "dancing" while the babies and very young toddlers went into the gym. We were only in for about 5 minutes when we realised that those children (some, a lot younger than her) were to jump, skip, bend and stand, and run in a big circle. Almost immediately, Alyssa refused to join in so we sat at the side and watched. Everyone tried to encourage her to join in, but she would have none of it and just started asking to go home :-( I personally believe that she is now becoming old enough to know her limitations, and that this is partly affecting her sadness.

One of the staff noticed that she would not join in (several had tried to encourage her but she just got more and more upset at each person trying), and when she realised that Alyssa just wanted to go home instead of joining in, she told me that Alyssa could just join the others in the gym if she wanted. Alyssa used to do baby gymnastics here so knows it well and was happy to do that, so we went through to the gym. In the gym; she was with babies and one year olds who couldn't do much on their own but she was much happier because she knew what she could do and couldn't do. She was happy to wander about, playing with the toys she could pick up and put down, getting help to go down the slide, and getting help to go on other playground equipment. When it came to the foam pit; I already knew from previous experience that she would not go in there and although I tried to encourage her, she refused immediately. She does not like any surface that is not completely stable, and she cannot get herself out of the foam cubes. She did play happily in the other part of the gym, just as long as she didn't have to do anything that required much physical input from herself. Despite this, she was exhausted and ready to sleep after about 45 mins, and she slept for about 4 hours so it was a strange day. I was glad she'd been able to get some enjoyment out of what should have been so much fun for her, but sad by how little she'd actually been able to do, and how tired that still made her. Most saddened by the fact that she knew immediately that she couldn't keep up with the other children her age (and younger) and wouldn't even try :-(

We did have a fairly good day yesterday. I was determined to try and get her smiling/laughing yesterday, so I told her very early on that we were going to try and have a happy day. Then I put on a new Tinkerbell top that I'd bought, and that cheered her up almost immediately. She is obsessed with Tinkerbell and I've learned that if I wear Tinkerbell, I can show her Tink when she's starting to get upset and it distracts her - even if only for a short period of time. So that worked most of the time yesterday and we went to see Alyssa's gran and aunty Heather in the morning. She played pretty well and was the happiest her gran has seen her in a few weeks (obviously pointing out my Tink top at every opportunity to everyone) and then we came home where she slept for 3 1/2 hours, before waking up and having dinner. Then we went to see Alyssa's cousin, who can also usually cheer Alyssa up and then over to see her nana. She still had a few pouty/whiny episodes in the day, but they weren't too bad at all. So Tink seems to be the thing that still works for the meantime when Alyssa is still very sad.

Here's hoping this starts a better week, and a happier Alyssa.

And again ...

2010-01-28T22:01:00.003Z

time has just rushed past unbelievably! I'm always surprised at how much time has passed between my blog updates these days, life is just constantly at warp-speed at the moment.

Alyssa is now fully recovered from the chest infection (yay!) but still having issues with controlling her emotions, and telling me fairly often how unhappy she is. She is not however, able to communicate yet exactly why she is unhappy because her language (and brain) are not "there" yet ... and a lot of the time she will automatically resort to the default "sore bum" which I believe is true some of the time, but not always. She just knows I will accept that as a reason for her not to be happy. I miss my happy baby girl! :-(

She still scratches and tears her skin off but does minimal damage due to the arm restraints worn overnight .... I really just don't want to have to resort to them during the day again, because we were doing so well at naptime until recently. However (sigh) if needs must .... then I shall again be forced to use them during naps and even in the car, because her toddler "tantrums" in the car involve her glaring at me in the rearview mirror ... while tearing her skin off! Needless to say, that is pretty dangerous - for both of us! Her, because she does such damage so quickly and me, because I am distracted from the traffic and road. I so far have only had to resort to the arm restraints on once occasion and I really don't want to resort to that ... but my priority has to be the safety of both of us. She has toys, games and a dvd player in the car - all of which work to distract her a lot of the time - but sometimes nothing is distracting enough. I guess when you're itchy, you're itchy ... and you'll get at that itch whatever the cost! Not feeling any pain on top of that, means there is no barrier to stop you so you'll just keep going until that itching feeling (and the resulting skin!) is gone!

Alyssa had the last physio session today with the physio she's been seeing for a year, because the physio is retiring. So we'll be getting someone new once a replacement is found, and once it's clear how much OT work Alyssa needs - and how intensively. She also had a speech therapy appointment today again, and the speech therapist still seems very impressed with her word sounds - much as I am - especially given the fact Alyssa has no teeth, low muscle tone facially (as well as everywhere else) and part of her tongue missing, and has requested one more session to base her assessment on ... but already thinks there is nothing we need to be doing at this point to get Alyssa's language further ahead than it already is. I couldn't agree more, because I think she's doing amazingly well, and comes on in leaps and bounds every few weeks. She may not always be the clearest child to understand because she doesn't always finish words - but according to the SaLT (Speech and Language Therapist), many children her age without her issues are not as clear as Alyssa! And she always finds a way to make her needs and wishes known, so it's not a problem at the moment.

Had the first session with just the new OT today too (the teamleader we were seeing is always being asked to be involved in many other areas, understandably so asked for this lovely girl to take over Alyssa's care). It was really good. I found her really easy to talk to - on a variety of subjects regarding Alyssa - and she's got a lot of experience with sensory problems and children with sensory needs, so she's able to give me practical insight on top of the OT work we're doing with Alyssa. Plus ... Alyssa loves her! :-D That in itself makes things much more easy, she's happy (allowing for our genetic stubbornness of course!) to do whatever the OT asks of her .... though sometimes perhaps in her own sweet time! ;-) Got a few ideas from the OT on how to help her deal with the emotional meltdowns too, so have a couple of things to try and see if they help her calm herself down.

The access worker was also here today to assess Alyssa for going to nursery soon. The nursery staff are (understandably) terrified of the thought of taking a child who does not feel pain ... and what that means. It's so new to everyone that it's a really daunting aspect to them all, they've never been in a situation like it before and we're all scared of what we don't know. But we discussed the various things that are likely to be a problem, and I reassured her on the things that AREN'T going to be a problem, so I think the access worker was happier about her going to nursery when she left. The nursery staff themselves will still need a bit of reassuring and adjustment, but I have also offered to stay with Alyssa for the first few occasions - until they are completely happy with her and what her needs are - if that will help. I already made it clear that she will not go to nursery unless she has an SA (Special Aide) for one to one supervision, and that was accepted with less fuss than I expected actually. But I have not fought to get her to this point relatively unscathed to have her wounded constantly at nursery - nor do they need a child who is always attacking herself and bleeding over everything in a class full of children!

It's been a hectic couple of weeks again, as they always seem to be and I have been rather exhausted at times ... but am hoping we're in for a calm period again over the next few days. Will (hopefully) write again soon.

It's been a very stressful week ...

2010-01-17T12:16:00.002Z

but I think we may have finally come out the other side now!

After initially seeing the first out-of-hours doctor on Saturday who told me to have Alyssa seen again if I was worried about her breathing at any point, or if I felt she'd worsened, I took her back again - to a different doctor - who told me he didn't think she had the flu at all (!?!). That he didn't think she had a chest infection (!), that her chest was clear and that she probably had "slapped cheek syndrome" which was ... a ... virus! And that she would just get better on her own.

I could have accepted that - especially as taking her out in the cold had brought her temperature down a bit again, and she did look better than she had when I phoned - except the only thing that was actually bringing her temperature down (though only to 38C) was the antibiotics that the first doctor had given us. When I said as much, he said that I should just finish the course anyway but that he really didn't believe that she had anything bacterial going on! This would be when he then felt the need to tell me "what a virus was" in the most patronising tone ever, and in language that a 3 year old would have understood! I was not a happy bunny, but also pleased that Alyssa herself was much more alert and comfortable so I left anyway and brought her home.

She had a few "dips" throughout Sunday and was most definitely a poorly girl at times but did seem to be a bit better overall, so I hoped that she was on the mend. But I still planned to phone her own doctor - for sensible advice, given the two completely conflicting opinions on Saturday - and although was up and down quite a bit Saturday and Sunday nights, I was a bit happier with her come Monday morning.

Phoned Alyssa's paediatrician and discussed the whole thing with her. She felt that the antibiotics Alyssa had been prescribed were definitely the right ones "if she had a chest infection" and that she would probably continue to improve. That I should just take her into the ward however, if I felt that she was worse at any point as we still do not really know for sure that her immune system was fully functioning and we were better to err on the side of caution. She said that some children - particularly those with a family history of asthma - would need inhalers etc to get them through the worst of a chest infection, so I reminded her that there is a lot of asthma in my family. Something Alyssa has never shown any signs of thankfully, but something which neither of us want triggered in her. She has enough problems without asthma!!!

As the day progressed, I was still concerned about Alyssa's breathing at times but the second doctor had shaken my confidence in my ability to know Alyssa so well. I would probably have just taken her home (we were at mum's for a while) if my mum hadn't been so concerned about her. My mum has very bad asthma - triggered when she was 40 by a viral infection - and she is far more of an expert on the subject than me. Although I have seen many of my family suffer from it, I have never personally had to be involved with the treatment and found it hard to gauge whether she needed help or not. Alyssa then had a coughing fit which she found it difficult to breathe through at all and that made it a bit more obvious how much she was struggling. Mum felt that she needed something more than she was getting, so I decided it was better to be safe than sorry and - instead of yet again having to phone in the middle of the night, wishing I'd phoned during the day - I opted to phone and say I was bringing her in. Felt I could cope more with being worried and wrong, than not being worried enough! :-(

She obviously looked much better (to me) by the time we arrived at the hospital and I felt like a bit of a drama queen to be honest! She was playful and chattering to the staff we knew, and I said as much to the nurse who was in charge of her care. That I didn't want to be wasting anyone's time but that I usually know her so well, and that she'd looked really bad when I phoned. The nurse just looked at me and said that she could already tell Alyssa was working very hard! She also seemed a bit shocked that Alyssa's temperature was 38.2 but I was not conerned by this, so had to explain that temperature in Alyssa is not always a very good judge of how she is. The doctor then came in then and also said Alyssa was working pretty hard - that she still looked good and he wasn't overly concerned - but that he felt she definitely needed some help.

He listened to her chest and - like the first out-of-hours doctor I saw on Saturday - said she had a chest infection (more so on the left side, also like the first doctor said), which made me angry at the second doctor I saw! He gave me an inhaler for her with a special little chamber for her to breathe it from, and seemed amused when I said that mum had one similar but bigger. He said he thought it was only children that got them! :-) I explained that if mum is having a particularly bad attack then it is easier for her to pump it into the chamber and breathe from that, than to actually try to breathe it in directly from the inhaler.

We then discussed Alyssa's other problems and I mentioned the dysautonomia and HSAN. He asked where she was diagnosed with dysautonomia so I told him about the recent NY trip and meeting Dr Axelrod. He was so helpful and said that he met a little girl with HSAN when he was in London!!! I have never met a doctor who has heard of HSAN before meeting Alyssa, let alone one who has actually been in contact with a similar patient! He offered to get me her contact details and I said I would be very grateful if he could manage that, the more of us who know about each other, the better!

Alyssa's paediatrician came to see us before she left and changed Alyssa's antibiotics to an even broader spectrum than she was already on, just in case it was H1N1 (swine flu) that she'd had. And happy for me to take Alyssa home, as soon as I felt ready to.

The next few days had a lot of ups and downs - with 4 hourly inhaler treatments - but I could see a gradual improvement. And after the first dose of the new antibiotic, Alyssa's temperature dropped to 36.6, the lowest it's been in over 2 months! So looks like it actually was a low-grade fever this time but other than being a bit snotty, she had no symptoms. And her paed had checked her chest when we last saw her and found nothing to worry her, so she has obviously been fighting the low-grade viral infection for some time ... before she then got the secondary bacterial infection. She is now more or less over both of them now thankfully, it's been a very long week!

However; now that she is "better" from the chest infection, I think she is now more aware of how miserable her day-to-day life is a lot of the time. When she was really poorly and having to make so much more effort to breathe, she was ironically happier. Now that she is over that, she is moaning/whining about absolutely everything and having a complete emotional breakdown over minor things! Which is really sad, because I also hadn't realised how miserable she was at times. She's always seemed to cope really well with everything she has to endure daily, but the sudden mood change back to this emotionally unstable girl makes me sure that it was just a case of her knowing no difference before. It always came on so gradually, with her growing awareness ... and now she's suddenly feeling better ... yet worse! :-(

I am hoping I can find a better way to distract her from her misery, and help her to cope with what is potentially just what she has to deal with for the forseeable future. It's difficult with her age, because it's hard to know how she really feels and also hard to constantly distract her without becoming exhausted yourself. But such is the challenge, by the looks of it.

xx

I'm back already ... I know you know that's never good news!

2010-01-09T13:42:00.002Z

Alyssa has the flu! Whether it's H1N1 (swine flu) or the seasonal version is less than clear - although the doc I saw at the hospital through the night said it didn't matter much, because they were both treated much the same. It was only when there were complications arising that either caused much of a problem ....

So obviously you'll have realised that Alyssa couldn't "just" do the flu, and has a secondary chest infection as well. Poor girl! She got up yesterday morning with a fever of 38C which I still don't really pay much attention (despite it being "high" in most of the literature regarding when your child should see a doctor) because Alyssa's temperature readings are not a reliable source of illness. She's been known to have a 40C and be quite unconcerned - except for the automatic excessive itching that ANY increase in temperature causes her - yet have a 38C temperature and be acting really poorly.

However; when I turned up to collect her from the family centre at lunchtime (because she seemed fine and was happy in herself) I was told that she'd fallen asleep in the middle of lunch - at the lunch table - and was still asleep. Bless! When I went in; she was in the arms of her careworker, sound asleep. That is obviously out of character for her, but I still didn't think much of it other than that she was fighting "something." As the day went on however, it became clear that there were many other symptoms - like the diarr, coughing, fatigue (more than normal) and I became convinced after a while that she actually had swine flu. She seemed to be handling it pretty well and - as I didn't want to take her out in -9C temperatures unless I really had to - especially if I was only going to be told to keep giving her fluids and paracetamol, I just put her to bed as normal and decided to monitor things.

The paracetamol (and ibuprofen at one stage) was not bringing her temperature down, but it also wasn't going up after it got to 39C either so I wasn't particularly concerned. She was still drinking pretty well and despite refusing dinner, took her yoghurt with meds just before bed so she still ate something. By the time I went to bed, she was still coping pretty well and I just set my alarm in case I dozed off too early because I wanted to check her through the night. I didn't need to worry though, because I woke up at approx 2am and could hear that her breathing was not as good as it had been, and she was "grunting" despite only lying in her bed. That's when I started to consider she may need more intervention, espcially considering the paracetamol was not bringing her temperature down. So I finally opted to phone NHS24 "just for advice" and to make sure there was nothing else I could be doing for her, that I wasn't already.

As always, NHS24 were extremely helpful - especially once they had to spell HSAN .... lol and we discussed Alyssa's various problems. They got me to put the phone to Alyssa's mouth so the nurse could hear her "grunting" and - despite Alyssa trying to hold her breath every time I did so (she thought she was to talk to someone on the phone, and didn't want to lol!) - the nurse was still able to hear the wheezing going on. She decided that with everything Alyssa has going on, that Alyssa really should be seen. So I had to get dressed, get the car defrosted and heated up, then head off to the local hospital to see the out-of-hours doc.

He was really sweet and very helpful. He said he didn't feel she was ill enough to need admitted (thank goodness, it's so hot in the ward that that in itself causes Alyssa problems) but that she definitely had chest sounds and had what he felt was most likely a secondary bacterial infection. He said it didn't really matter which type of flu it was, the chest infection was more worrying so he'd give me antibiotics and that I should call back if she worsened, or if I was worried. That if she wasn't eating/drinking or was just having more breathing problems, then she should be seen again. He advised against Tamiflu - at this stage anyway - because her current state of illness versus the risks of side effects were in his opinion not worth taking it ... and that if she worsened and had to be admitted, that the docs then may decide that she take it. I was quite happy with this and his rationalising, so we got the antibiotics and came home again. Thankfully, I managed to convince her to go back to bed for a little bit (as we'd been up for half the night and it was already 6am by this point) so we went back to bed at 7, and slept until 9.

Typically; I was meant to be going out tonight for my birthday (which is tomorrow!) and it would have been the first time I was out since I believe about April last year! I swear she knows when I make any plans lol! And I don't particularly mind not going out - she's obviously more important - but was still planning to when we got up, because her temperature was down again and she was noticeably brighter ... after one dose of antibiotics. She has taken a bit of a turn for the worse again and has a 40C temperature, not interested even in yoghurt and just wanted to go "home" to bed (we were at my mum's for a bit), so have just given her the next dose of antibiotics as well as some more paracetamol, and am hoping that it will bring the fever down again. Her breathing is also a little bit worse but the fever being up again makes me think they're going together ... so am just keeping my fingers (and everything else crossed) that both are better when she gets back up again.

Otherwise, it's back to hospital we go ....!

And New Year has come and gone already ....

2010-01-06T21:04:00.005Z

Wow, I can't believe how quickly the days are getting by me here. I always feel like I just updated this and I find it's been a week ... or 10 days, looking at the last update! Scary!

Alyssa's doing pretty well, considering. She has had a low-grade fever coming and going for weeks on end, which is hard to actually associate with anything because she isn't always ill when she has a "fever." I'm at the point where I rarely pay any attention for an illness point of view unless her temperature is at least 39C or above, because she so often has a 38C temperature but is fine in herself. Since the outside temperature dropped here, she's practically had a high temperature at some point of every day so it seems to be her reaction to the cold.

And - despite her extremely distressing reaction to cold sensation - she does not seem capable of telling when she is physically too cold ... so her little fingers and toes have been blistering due to what appears to be the colder temperatures. Her face is also scarlet very quickly once she's been outside too. Trying to wrap her up is very difficult because she overheats, then immediately starts tearing her skin off ... but if I don't try to wrap her up, her skin is drying out quickly and she's turning scarlet in no time. But - of course - she doesn't care in the slightest! Now if it was hot outside, she'd be telling me constantly that she didn't like it ....!

Thankfully; Alyssa's lovely dermatologist has been working in between the christmas and new year period, and e-mailed me back with a few suggestions of creams to try. Got one of them and have been slathering it on her after baths; just before she goes to bed, and her skin is already looking much better. Her face is not just as dry, and her arms are healing again. The new antihistamine is still making a difference but cannot compete with an "Alyssa with a temperature" just like any previous drug, but it does seem to help some. I think we just have to accept that an overheated Alyssa will scratch and tear until she draws blood, regardless of what medication she is on!

The special lycra suit was sent back for readjustment yesterday again. The girls were laughing when they tried to get it on her, and saw that it needed adjustments almost everywhere!! She's a little fatty! ;-D It's a shame because it's been away for longer than she's had it, but I'm so pleased that we're at this point, given how hard a struggle it's been to get her eating like she does now. To think that just a year ago, I still had to encourage her to try most foods she didn't know (what she ate was a very small selection of foods, all the time!) and she usually refused! And not too long before that, she had a nasogastric feeding tube up her nose and down her throat - feeding her when she refused to eat. I am a very happy mum that she's now gaining weight so well that her suit is having to be adjusted in almost every way! :-)

We also celebrated the first ever year since Alyssa's birth where we managed to avoid the hospital for the entire Christmas AND New Year period!! Things have definitely improved, I'm delighted to say!

Alyssa's nose is finally healing. It has scarred somewhat but it's not too noticeable unless you're looking for it, so I guess that's not too bad. And she'll grow, so it will shrink (assuming she doesn't find another reason to start on it again!).

Received the dvd of the 1st HSAN Annual Conference at the NYU Medical Center over New Year, and am really pleased by it - especially as I was unable to attend, due to it being held in August. It was just far too hot in New York at that time of year for her, and we would both have been miserable. There are many medical specialists lecturing at the conference and I learned a lot from it, and got answers to more questions ... as well as discovering what the plans for the next stage of research are.

Time just keeps flying away from me!

2009-12-29T17:07:00.002Z

Well, Christmas has already come and gone since I last posted! That's been a fairly hectic and quickly passing week!

Just as I was about to post that the new antihistamine (recommended in our visit to NY) seemed to be really helping and there was a very noticeable improvement in Alyssa, she started scratching again ... and it seemed to be wearing off very quickly. :-( However; we were also trying to reduce the number of medicines she gets, and tried to wean down the amount of sedation she gets on top of the antihistamines. Think we just reduced the sedation a little bit too much and - as the dermatologist has informed me several times - you can't get reduce pruritis (itchiness) without some level of sedation - unlike allergy symptoms, which can be reduced with non-drowsy preparations. So there is some adjustment going on, as per usual.

Christmas was really lovely, she was so excited about "santa" coming and bringing her the things she wanted. It took her quite a bit of time to wake up properly on Christmas morning and she didn't really remember what she was meant to be excited about ... until we came downstairs and she saw her presents! Her little face was a picture, and made this christmas one of the best I've ever had. And not a hospital visit in sight!!!! :-D

Her lycra suit was collected just before christmas and now fits her better in the sleeves (although her arms still go purple almost immediately so I'm not convinced it's still not too tight), but I then struggled to get the body zips up! She's clearly fattened up since we sent it off, and now I've stopped using it again because one of the leg pieces in particular is leaving a deep red welt on her leg, so it must be too tight for her there now as well. Which is a shame, because it did her so much good for those first few days when we got it originally. But we have another appointment next week, so I shall just ask them to re-measure her again and ask about her particular nerve-endings etc then, how the "tightness" should be affecting them.

Had a fairly awful day yesterday as decided to go searching for a new little desk for her. Had to drive for about 30 mins but had put her dvd player on so wasn't too concerned. Unfortunately, she fell asleep on the way there so I didn't get her out at the other end (they didn't have what I was looking for anyway) and she woke up on the way home. I'd hoped she'd just sleep until we got home, so I'd taken the motorway ....! Realised she was awake (and attacking her neck) after being about 10 mins on the motorway, so couldn't pull over to stop her, so she did a fair bit of damage in the time it took me to get off the motorway again. Managed to get her cooled down, and a bit more comfortable but was really frustrated because she's been doing so well and her neck was almost healing over! *sigh*

On the upside though, she played with her toys for 10 WHOLE MINUTES in her own room ... with my in MY own room ... and I could hear her playing and chatting to them, so knew she wasn't attacking herself. This is the first time she has ever achieved this, with me not finding a bloodbath once I go to see what she's getting up to. So a bit of all-roundness yesterday.

Hoping the increase in sedation will continue to increase the anti-itching effects of the new antihistamine, and that she'll go back to being pretty settled and comfortable. The senna seems to be making a bit of difference to her, in that she's not straining for hours on end now before she needs to poop so she's a bit less painful during a typical day - although she is still complaining about tummy cramps instead, so it may still be just the lesser of two evils. Oh well, here's to the New Year bringing us some new improvements!

Hope everyone had a lovely christmas xx

It's been quite a week!

2009-12-19T19:04:00.002Z

Since I last posted, the abscess has fully resolved and the scabbing is also now mostly gone. Very relieved about that! The other wounds are also still looking better, although she is starting to go at them again when she can. She has started the "new" antihistamine (new as in one which was recommended by Dr A in NY as worth trying, not new in the sense of it being a newly developed drug) last week also, and we reduced/removed some of the other ones so she wasn't just being floored by sedation! I misunderstood the paediatrician and thought I was to completely wean her off the sedatory drug which Alyssa gets to help the antihistamines work better - she actually just meant to wean her off the day doses ... so I had a few sleeplesness nights (because Alyssa did too) because I reduced them a bit too quickly, considering she also had the other antihistamine removed around the same time. Thought I'd done it gradually too, lol!

She was complaining about her "sore bum," that she needed her nose cleaned, that she needed water, that her tummy hurt ......! And everything in between, she just could not seem to settle at all, so we were both pretty tired. Spoke to the paed again and realised I was still meant to be giving Alyssa the evening dose of sedation, to see if that was enough to get her through night-time - and allow us both to get a good nights' sleep. It appears to be doing just that again, thankfully!

Her gut pain is sadly still much the same, despite her being noticeably stronger (her suit has not returned yet) and being helped by the OT exercises we're doing. She also sees the OT here once a week, and she gives Alyssa completely different things to do than those we are doing - so at least she's not getting bored with any of it. She really likes the OT stuff because it's just like playing games to her, even when some of the things are on her "no like" status ... she usually accepts whatever is being asked of /done to her. She managed to put her feet (the most sensitive area in her whole body) into a big tub full of dried peas last week - with her socks on obviously - and that's a major step for her, she's so paranoid about her feet touching anything!

We've also just started Alyssa on a propulsant laxative, in the hopes that it will help her to pass stools more easily - and she won't have to strain for hours on end like she does without the help of drugs etc. It's a bit too early to tell if it's helping yet, but I hope so. It's certainly not making her worse at this very low dosage so that's my main concern passed over (she's so sensitive to anything which makes her gut muscles contract, and that causes her even more excruciating pain!). She's been fighting yet another cold this week and seemed today to be going downhill, but she looked and felt better after her long nap, temperature was going back down towards normal when I last took it.

The dentists were very pleased to see/hear that the crowns over her molars are still protecting her tongue and inner cheeks from damage, and they will continue to monitor her every 3 months. The dental consultant said that the crowns can wear through after a bit so they will keep an eye on them for signs of wear and tear, and do more crowning as necessary.

I've started this update twice now and my laptop's crashed both times, so some of this is now a bit out of date (and also why it's taken me so long to update things this week!). Will update the rest again in a bit, so I can make sure this actually posts before I lose it.

Since I last posted ...

2009-12-13T13:09:00.002Z

Alyssa developed a rash which quickly spread from her face and neck, bottom and legs to her arms and started showing on her chest. Now she was brewing something before we started the antibiotics - she'd been fighting a low-grade fever and cough/cold for about 3 weeks prior to this - but the rash didn't show until she started the antibiotics. And I then remembered that last time she had one of these antibiotics in particular, she also developed a rash - though less severe a rash as this episode. Again, was not convinced it was the antibiotics because she has had this one many times before and been absolutely fine ... but the spots on her face, neck and legs this time were really fiery - as were all her "regular" wounds! Which concerned me. Usually once she's on antibiotics, her other wounds which are just permanently there (because she always tears at them) start looking better because the bugs she's just used to having, also get killed off by the antibiotics.

However; I also knew that the abscess (the reason she was ON the antibiotics in the first place) was already a bit smaller than when she started the antibiotics, so I was in a bit of a quandry. I phoned Alyssa's paediatrician and we debated the options. She was also surprised - and probably a bit skeptical - that Alyssa should be reacting to the antibiotics after having them so many times previously without any problems, but we decided that with Alyssa having reacted so badly to the carbamazepine last christmas (and tearing/burning her entire chest/throat and neck skin off) that we should probably try to change them just to be on the safe side. She phoned the lab to check the results of the cultures, and Alyssa was definitely on the correct antibiotics for the bugs in her wounds but they felt that if she was showing a reaction, she should be changed to another one. This one was not easy to source but they managed to find me some at another hospital and arranged for them to be delivered to mine that afternoon.

Alyssa had a higher fever by this point (still not horrendous, but clearly unwell) and we collected the new antibiotics Thursday evening. She was started on them immediately and is still on them. They do not taste very nice (even worse than the previous ones) and she was gagging on them to start with, but at least not actually vomiting like she did when she was little - she vomited VERY easily then! So she's actually looking forward to them at the moment ... because she's getting chocolate buttons straight afterwards, to take the awful taste away! ;-)

The abscess is still there but is definitely shrinking, and is now starting to crust over which I am very relieved about! Her other wounds are now starting to look better and are also crusting over too, so perhaps - just to be nice to us for once - these will also be left alone to heal over! I am not particularly expecting of that last sentence ... but it would be nice. Her nose wound is still being attacked daily so I have no expectations whatsoever that that will be healing any time soon. She is still unwell, but better than earlier this week and the rash is disappearing. Still not sure if it was the antibiotics or something viral, but at least the abscess is looking better.

Got a bit of a shock yesterday ...!

2009-12-09T11:15:00.003Z

I was preparing for my scheduled appointment with the paediatrician yesterday morning, and getting Alyssa dressed etc when I happened to lift her up from the floor to do her hair. I got a huge shock as I realised she had a large lump on the back of her head (which definitely wasn't there the night before when I washed her hair) and it felt very bony. I initially thought she'd banged her head without me realising - she bangs her head frequently when she lies down and I have to remind her to lie down gently! - but then when I actually investigated it, it felt more like an abscess. There was a tiny area which looked like it could have been a small wound which had sealed over again, which would certainly have allowed an abscess to form.

I do not panic easily, but I have to admit I was not as objectional yesterday as I usually am with her. I knew that it was most likely a superficial abscess (ie just under the skin) but I personally had a cerebral abscess (abscess on the brain) when I was a child and it eventually caused the same lump on my head, before being diagnosed. I had horrendous headaches for weeks/months and the doctors could never figure out why ... until the lump appeared on the outside of my head and I was taken in for a CT scan. Obviously with Alyssa, I was worried that she would not feel the headaches anyway and wondered if the same thing could be happening again!?! She certainly was not bothered about the abscess and by the time it had risen to that size of a lump, it should have been VERY painful ... she was just scratching at it! It was definitely annoying her and she kept telling me it was itchy, but she was not bothered about it in any other aspect.

Saw the paed and mentioned how glad I was we were already due to be there, because I'd just found this and was obviously a bit panicked. She looked a bit concerned but after examining it, seemed happy that it was just a superficial abscess. She swabbed Alyssa's "regular" wounds as we had to presume that she's most likely scratched at those, then scratched in the area of the abscess and managed to puncture the skin there too but not enough to actually cause a huge wound. This would then have healed over, allowing the bugs to start multiplying and causing the abscess. She told me to get Alyssa started on 2 different antibiotics (we normally try to avoid them in Alyssa because she's had MRSA on a few occasions, but we also have to weigh each situation up on what's more dangerous to deal with) and that she'd let me know if the cultures from the swabs came back as anything those two wouldn't cover, so we can change antibiotics. I picked those up from the GP yesterday evening and started Alyssa on them straight away. I was however much happier and more relaxed about the whole thing because Alyssa's paed wasn't too worried about it - and I trust her judgement completely! She always knows when to be worried about something, and when we can deal with things as they appear.

By the time Alyssa went to bed, she was quite a poorly girl - had a fever again, was coughing and snotty and just kept saying "not well mum ..... not well ...." :-( Thankfully, she managed to go to sleep fairly easily - probably because she was so unwell - and she slept pretty well. When she got up this morning; although still quite snotty, she was much brighter and happier. Gave her another round of both antibiotics (she HATES them, from previous experience and really doesn't want to take them - which is unusual for us both lol!) and then got her breakfast once she'd been up for a little while. Checked the abscess area again and was delighted to see that it's already shrinking, after only a few doses of antibiotics! :-)

Just thought I'd update those of you who also follow us on FB ... and who get these blog ramblings via e-mail! Thank you to all who posted on FB yesterday, sending your love and best wishes for us, and also for begging for an update. Here it is!

xxx

Has it really been ....

2009-12-07T21:13:00.003Z

that long since I posted?!? Wow! That's gone past in a blur!

Alyssa's suit has been sent back for readjustment; which is a bit unfortunate because it was so brilliant, but at the same time there's no point her having her posture corrected if it cuts the circulation off to her arms! So she has been re-measured and it will be posted back out to us once it's adapted. She is still holding herself better at times than she was before trying the suit though, so it's good hasn't been completely lost I'm glad to say.

She's been "ok" since I last posted. She's been fighting some sort of cold/virus for weeks now and has had a runny nose and low-grade fever on and off for the last couple of weeks, but she was pretty hot over the weekend and - as soon as she has any rise in temperature - she starts to tear at herself more again. So she's still attacking the back of her head and her neck, as well as STILL pulling the skin off her nose! *sigh* One of the girls at the family centre said she wondered if Alyssa is pulling the skin off her nose once it has scabbed over because it has perhaps tightened, so she is more aware of it. I hadn't considered that, but it is a definitely a possibility - she's certainly not attacking it because it's itchy ... it's always when you leave her for a few seconds, or she is "amusing herself" for any length of time, and she remembers about it. In the car, she can see it in the rear view mirror which is a bit unfortunate because - no matter how "good" she's been with it - she immediately remembers about it and starts picking at it.

I've managed to source the new antihistamine - recommended by Dr Axelrod in New York - and should be collecting it tomorrow, so it will be interesting to see if it makes any difference to Alyssa's itching. I'm always highly skeptical of drugs these days, because we've been through so many drug trials now and she still tears at herself. However; it is getting harder now because a lot of it is learned behaviour instead of just being because she's so itchy. She also uses it as a way to rebel against me, which every toddler does at some point - she just happens to tear her skin off as a sign of rebellion ... especially because she's just been told not to do it!

I'm seeing Alyssa's paediatrician tomorrow for a catch-up of all the information learned in/since New York (some of it - like the OT's report - was posted, once it was finished), and a general review of how Alyssa's doing. I had really wanted the paed to see Alyssa in her new suit, because she would have been absolutely amazed by the difference in her - but I think she'll still see a big difference. We last saw her just before leaving for New York, so it's not been that long - but there's a noticeable difference in her posture and her gait.

The paed will also notice a HUGE difference in Alyssa's speech! :-) She came on so well while we were in New York, but she's had a sudden speech spurt even since that, and is now like a little parrot! To the point where we have to be very careful about what is said in front of her, lol! ;-)

Something else I just wanted to point out from a Pain Insensitivity point of view is that her sensation sense in her legs seems to be increasing. I'm not sure if that means she is more aware of pain as such, or that it's just because her skin sensation is just more sensitivie in that area (like it always was) but she is reacting more to things "hurting" her legs and feet (her words) than she was previously. However; confusingly, she didn't bat an eyelid when she had huge needles inserted deeply into the muscles of her legs - but was still complaining that the pin prick test "hurt" ... so it doesn't appear that she cares about deep pain much. Just that she seems to be more aware of the sensation on her skin in these parts.

She is nothing if not a riddle! ;-)

News!

2009-11-29T23:00:00.002Z

I would like to post a small announcement here.

As some of you know, I have recently been in the process of having an article created about Alyssa for a UK magazine - to raise awareness of the things sufferers with Pain Insensitivity face, as well as about the HSANs themselves; to let people understand more about what Alyssa has to cope with each day, but mostly to thank as many people as possible for helping us reach our fundraising goal in getting to New York. And to update them publicly on how the trip was successful.

I had also planned to donate the fee to Yorkhill Childrens' Foundation, for their ongoing support in Alyssa's care.

Sadly; the article ended up being very disappointing, somewhat make-believe, and - despite several attempts to have it changed to a more accurate format - nothing like I wanted. So I felt I had no choice but to cancel the entire affair, and will have to find another way to let people know how their generously donated funds were helpful to Alyssa. Perhaps in a newspaper article instead. An update will be posted once I know.

As far as the donation to Yorkhill Children's Foundation goes, I still plan to raise money for them annually - as well as continually fundraising for Alyssa and her needs - as and when I am in a position to do so.

Thanks

It's been a pretty good week this week!

2009-11-29T00:14:00.002Z

I hear you all gasping in shock at today's title! ;-)

But it has been a pretty spectacular week - not because Alyssa has mutilated herself any less than every other week (hardly! She's still attacking that poor nose of hers, as well as the usual neck wounds!) but because ..... I collected her "special lycra bodysuit" on Tuesday, which was specially measured by the orthotics department then created for her. It's AWESOME! :-D

The idea behind it is that - because it's made of lycra and is supertight - it provides deep pressure, which gives her the sensory feedback she needs to learn where her body is, in relation to her surroundings but also in relation to herself. It also has specifically-placed padded areas (individual to each particular child and their particular problem) to provide extra support in the areas required. In Alyssa's case; the most important things are to pull her shoulders forward and pull her stomach back - to correct her pretty severe lumbar lordosis (lower spinal curve) - and to give support to her very low toned muscles, so strengthening her arms and legs at the same time.

The difference in her as soon as it was on was just unbelievable!!! She stood straighter, looked taller and was just generally sturdier. She looked more confident too and although her gait was more noticeable because you're eyes are drawn to her feet more (instead of her floppyness), the orthotist said she felt immediately that Alyssa's stance was better, her legs weren't so wide apart and she was placing her feet better. We were to build up the amount of time spent in the suit each day but even after the first day, the difference when she wasn't wearing it was scarily mindblowing! She's much stronger and is holding herself up better, in both a sitting and standing position, she's easier to carry because she's more sturdy - like a "normal" toddler - and she's loving showing off the suit! ;-)

The added bonus is that because the suit is so tight, it's also reducing her itching sensation and she's not really scratching herself much when it's on. I was asked by the OT on Friday how long that lasted once it was off, and sadly I haven't noticed that having the same impact for any length of time once the suit is off but I'm also so used to her scratching that it's not immediately noticeable if she's not scratching, because I'm pretty immune to it. Plus, she's still tearing at her neck and she's still attacking her nose so she's not necessarily itchy but she's learned to do it (or has them pointed out, or is curious because of the blood) that it's hard to tell for a little while. That will be monitored though, as it's pretty awesome that she doesn't scratch at herself so much - from itching - when the suit is on and it would be a shame to think that it is only going to help when she's wearing it. She can't wear a suit forever, all the time! BUT if it works on sensory feedback, then it may also help with the sensory aspects she needs for the itching to lesson as it is clear that it is her sensations and how her brain perceives them, that are causing the problems. But time will tell how it affects the itching!

The only downside to the suit is that it is a bit tight at the sleeves, and her arms are definitely being affected by restricted bloodflow. It has capped sleeves but they finish just above her elbow joint, so they are tightest just at her elbow. Her arms turned red; then purple almost as soon as it was put on her at the fitting and - because I was concerned about it then and pointed it out (and also that as she didn't feel pain, she also wouldn't know if it was too tight) - I was advised that it needs to be tight so it doesn't ride up and that although one of the physiotherapists felt it may be tight, the other thought it would be ok. She suggested I try and stretch it when Alyssa wasn't wearing it and see how it went, which I did and it did get slightly better as the days wore on but I still wasn't happy with it. Her arms continued to get darker and darker the longer she wore it, and in comparison to her legs (which are her normal colour) were mottled and blotchy. They are always cold and clammy, so I cannot use that as a valid form of testing and asked various medical professionals for their opinion and most agreed that they felt it was a bit tight. (If she leans on a table for example, her lower arms start swelling up and turning purple!) When I took it off her yesterday however (the first day she wore it for the "full day" which was actually 8 hours) she had deep red welts in both arms, so it is definitely too tight. So she has not had it on as long and I will need to have it sent back for readjustment.

Apart from the sleeves aspect .... I LOVE THIS SUIT! She's like a little superhero with it on! The things she can do (NORMAL things for a 2 year old) are just amazing, and so nice to see - as well as the fact that she is noticeably more comforted and settled with it on, compared to being without it - and I am so pleased that she finally has something which has made a definite and immediate improvement!

PS: The Website updating did not go very well :-( It may take a bit longer than I thought to master this whole website thing.

Night all xx

It's been a long week again ....!

2009-11-23T10:57:00.002Z

I seem to write that heading a lot! I only just noticed (when it came automatically as if to prompt me lol!)

I didn't manage to get hold of Alyssa's paediatrician last Monday because she was off, but Alyssa seemed to be calming down with the whole "nose" thing - especially as "Santa not coming to little girls who tear their skin off" was being used as the latest attempt at bribery to stop her from mutilating! That seemed to work for a few days and things weren't too bad, but - even when I managed to stop her from making it worse or was successful in going 24-48 hours without incident - she'd do it at the daycare centre! :-(

I have to admit to being a bit annoyed by that because despite knowing how fast and determined she is at it, I still feel that there are far more of them watching her at any one time than there is when I am watching her. If I can manage it at home on my own, then surely there is no excuse for it when she is being supervised by others?!? Who knows, I'm not actually angry about it - just depressed that even when there, she's not distracted enough by the toys/games/activities etc to leave her poor nose and neck alone.

She was home for approximately 30 mins last night when the first "blood-bath" episode occurred. She'd torn her neck open and had two bright red hands and blood running down her neck and onto her chest etc, when I'd gone to run her bath! *sigh* I stripped her and got her ready for the bath (which I seem to have found the "perfect temperature" of again, by pure luck I think ... or a temporary measure ...), got her in it with relatively little fuss and got her cleaned up (the bath water was a nice colour once she was done!), then brought her back downstairs to get into her pj's and do some OT exercises. She was great (clean! and blood-free! ) and wanted my iPhone to play a new game I downloaded to it the other day for her. She's usually so into this game that I gave her that and went into the kitchen to get her meds ....

Came back about a minute later to her absolutely covered in blood AGAIN! I was just completely despairing, because she still had the iPhone in one hand, but had caused pretty extensive damage with the other! Yet again, blood running down her neck and one bright red hand/wrist and blood smears all over her face! *sigh* And she's so quick to just say "sorry, mum" .... But of course, because the only thing she feels is "itch" and not "pain" even once there's no skin left ... she doesn't really understand what she's saying sorry for! She just knows she's not to scratch. :-(

The gut pain's still off and on (better than "on" all the time I'm happy to say) so I'm still trying to work out what she's getting here that is so different from what she got in NY, because she was fairly pain-free in NY. Which was fabulous! Currently looking into what her diet's getting again now she's home, that she wasn't getting in NY ...

Still awaiting the antihistamine suggested by Dr Axelrod in NY and e-mailed the dermatologist last night to see if she's managed to source it yet. It may be yet another drug that doesn't have much / any effect, but we won't know that for sure until we try it. Haven't had a response yet, but that's unlike her so she must not have read it yet.

Ok, trying my best to work on the website at the moment, so going to leave it at that for just now. Will update again soon.

Moira xx

The week from hell ...

2009-11-15T22:09:00.002Z

Well I've not been on here much except to post about how New York went (because I knew those of you following this were desperate to know), but also because this week has just been absolutely awful. :-(

Alyssa fell when she went to her dad's house earlier this week and grazed her nose. A simple, ordinary, everyday "toddler" injury that every other toddler has had at some point (ok, excepting the point where her dad phoned me to say he was worried one of her hands/wrists was a bit swollen and could I come and check it - but it was fine!) ...! Of course - with Alyssa - there is no "normal" injury and she will destroy any wound she can see!

Because it is her nose, it should have healed no problem (and was really no big deal, a few scratches on her nose) BUT ... almost everyone we met automatically said to her "Oh, what happened to your nose?" ... which just reminded her that she had a "sore" nose. And in the world of Alyssa, that requires investigation! She has gradually over the last week managed to almost peel the end of her nose right off, and the wound has gone from being a few minor scratches to a hole the size of a 1p (10 cents to you US folks) already. Not to mention the blood factor!

We went to Callander and Crieff today, to take her to the Christmas shops they have - thinking she'd love all the lights and christmas-related toys and items they had there. And she did. But as soon as we weren't watching her completely and whole-heartedly, she was stripping the skin off her nose! At one point - in the middle of Callander High Street - I looked into her buggy and found her with blood pouring down her face, all over both hands and down onto her neck. As well as spread up her face onto her cheeks, like she'd just had her nose burst! People were staring at her, and at us (nothing new there I guess, when Alyssa has any wound) in complete horror and amazement ... because she was so unconcerned by it all. One woman asked us if she'd fallen, and then helpfully suggested a "spray that stops the bleeding and numbs it" ... which would be wonderful - except she doesn't need it numbed and SHE is the one who is making it bleed! A mere spray cannot compete with the deliberate mutilation of a child who just does not understand that this is injuring (and scarring !) her all the time. Hopefully; this particular injury will not scar like all her previous mutilations, but I am much more distraught about it because it is her face! :-(

I do not want to have to resort to using her arm restraints (padded arm immobilisers with velcro) unless I absolutely have to, because she gets very depressed and withdrawn with them on during the day. (She wears them every night when she goes to bed, to stop the "normal" tearing injuries she does daily and is perfectly happy with them on then - most likely because she's so used to them. She actually tells me that they have to go on ... and usually that they're not on tight enough, bless her!). But wearing them during the day and being prevented from being able to do anything is not fair, and she is obviously very upset if she has to have them on then. And I'll admit that there have been times when I've had no choice, because if I am driving and she is particularly itchy and cannot be trusted not to scratch and tear, then I have to put them on her. I have lost count of the number of times I've had to slam the brakes on in the car and actually get out of the drivers' seat and into the back, to physically restrain her and stop her from tearing herself. She is usually already covered in blood by this point, but she also knows that I cannot stop her when I am driving and uses this against me. What starts out as an itch which she needs to scratch, becomes a battle from an otherwise typical toddler - and she will use this as the thing to rebel against me with.

I plan to phone my local hospital tomorrow and ask for advice. Obviously, they are not any more experienced with HSAN or Pain Insensitivity than I am (very much less so!) but her paediatrician in particular is a very smart and practical woman, who usually has some suggestions or recommendations that I have not thought of. As is the Community Paediatric Nurse, who is very creative! Hopefully one of these two will have something my frustrated and exhausted brain cannot come up with as yet!

Obviously not the most worrying part of it all - but certainly the most annoying as far as timing goes - is that I have been corresponding with a magazine reporter, who is doing a story on Alyssa (or is trying to) ... and I was supposed to be having a picture of the two of us taken this weekend because I do not actually have any. So that hasn't happened this weekend, and I shall just have to hope that they understand. Sadly; Alyssa is famous for her very bad timing, and this IS life with Alyssa, which is exactly what they are trying to write about.

Here's hoping someone has some ideas this week. Keep everything crossed for us, I really don't want her face scarred! Her lip is already scarred as most of you know - from when she bit straight through it - but that's not really too noticeable, unless pointed out. I don't want her to dig into her nose until she ends up with a scar there too! :-(

The New York Trip .... part three!

2009-11-11T21:16:00.002Z

Ok, hopefully the "last of the NY sections" ... hoping to get anything remaining in this last one!

Monday 2nd Nov:

Had the "parent training" session with Melissa Chaikin Kahn and she went over the exercises that I am to be doing at home with Alyssa, to help strengthen her abdominal muscles (which will hopefully also help reduce the gut pain!) and correct her overall posture - as well as help Alyssa with her many sensory issues. Alyssa was less than co-operational, but it still went pretty well. Got lots of "homework" sheets to bring away with me, and reminded (or perhaps ordered, lol!) by Melissa that I was to contact her by e-mail often. Melissa also told me that she expected Alyssa to change pretty quickly so the plan would need to change with her, so was pleased to hear that!

Tuesday 3rd Nov:

Did some last-minute shopping, then headed to the NYU Medical Center to catch up with Dr Axelrod again; and go over everything that had happened, and everyone I'd seen ... to formulate a plan of action for when I got home. We went over the original letter she'd given me as there were a few things that were inaccurate and I felt she needed to know the fine details of Alyssa's history - given she was basing Alyssa's potential diagnosis on it! Dr Axelrod told me she'd managed to contact the genetic research lab and find out if they were prepared to go ahead and start gene searching for CAD (Congenital Autonomic Dysfunction with Universal Pain Loss) which she believes Alyssa has ... and they are happy to proceed, now she has a small group of patients to compare. So Alyssa and I both had blood samples taken, which were sent to the genetics lab for studying and we'll hear in due course how they get on.

The aims:

are obviously to maximise Alyssa's potential by improving her muscle strength and decrease her discomfort, as well as her self-injurious behaviour. And to monitor her for problems which can occur later - such as blood pressure problems, contractures (abnormal shortening of muscle or scar tissue - usually permanent - which results in deformity) as well as the things that the Pain Insensitivity can bring, like fractures which go undetected. Un-noticed fractures can lead to severe bone sepsis (infection), which can be fatal if not found in time.

The plan of action:

* To try a couple of antihistamines which Dr Axelrod has suggested, that we have not tried as yet - which she seems to have had some success with. The one we will be starting with is also good at helping with gut pain, which would obviously be beneficial for Alyssa.

* Doing Sensory Integration Therapy - which I was given by Melissa Chaikin Kahn, who is specialised in this field - and doing the exercises and therapies suggested by her, at home whenever possible

* To attempt to get Alyssa swimming - which will require the aquisition of a wetsuit (which I'm still looking into) that is small enough for her, covers most of her body to protect the open wounds she has, as well as protect her from the water temperature which she obviously hates - because this is the most beneficial exercise for someone with HSAN. Being realistic, it's the ONLY exercise/sport recommended for HSAN patients because it is non-impact and therefore does not put added stress on their joints and limbs.

* To prevent (or at least reduce) Alyssa sitting on the floor, which puts unnecessary pressure on her hyperextensible (very loose/lax) joints and puts them at an abnormal position. As she also does not feel the discomfort and HSAN patients are at an increased likelihood of joint problems, we need to be pro-active in areas such as this.

* To correct her from "weird" positions whenever noted (which we already do, but some places - such as her daycare establishment may not realise the importance of this) and not to allow her to simply sit in awkward positions ... "just because she can"

* To continue to protect her eyes from danger. Because she has no pain perception in her eyes as well as her external body, she is at risk of eye ulcers, corneal abrasions and blindness from dirt/hair etc getting in her eyes. We also need to watch for the "little things" such as too much sunlight, air blowing in her eyes (like on the plane etc) and when playing with sand at daycare etc.

* To continue to monitor the nerve and motor conduction in regards to the Thalidomide - which is accepted as doing more good than harm at this point in time (and that there is no other "safe" alternative to reduce the sweating) - but to bear in mind the problems it can cause, and remember that she may well have to come off it at some point. It is not really a longterm option, but will do for now.

* To always trust my instincts when I am worried something is wrong with her, and never accept an answer of "it will probably be fine" when dealing with medical professionals who are not experienced with the HSAN disorders. To remember that WE are the experts in our HSAN children, and that we know when to be concerned and that we are not being overly paranoid, but simply protecting our children - a lot of times, from themselves! - but in the only way we can

I think you will agree that the trip was very worthwhile, and that it was worth the absolute fortune it cost! ;-) I ended up with an unscheduled (and unbudgeted!) trip to the orthopaedic specialist, but was happy to have Alyssa assessed by him considering he is an expert in the HSAN children and knows what to be concerned by. I also now have to find the cost for a Home Listening Program which Melissa feels will be the most beneficial to Alyssa, as far as the Sensory Integration Therapy is concerned ... so the fundraising will definitely be ongoing.

I have to say though, that the money would be found even if the fundraising didn't manage it. If you can't find the money for your child when it's their health that matters, what's the point in anything? I would happily end up in debt for the rest of my life if I thought that Alyssa was benefitting from it, she's my baby and she's definitely worth it! :-)

Since returning from the NY trip, I have already been back to the paediatric hospital and seen both the pain specialist and dermatologist. The dermatologist is currently hunting down the antihistamine Dr Axelrod recommended and will let me know when she has managed to source it. The pain specialist (specialist consultant in anaesthetics - to give him his proper title!) has agreed that the Gabapentin is no longer effective (which he did think before we went anyway) and we have withdrawn Alyssa from it. With no adverse effects, I'm delighted to say! She had actually gotten it a bit sporadically while we were in the States, just due to the hectic schedule, the adjusting to time difference and the excessive amount of sleeping Alyssa did! And she was no worse ... so I figured it really wasn't doing much now anyway.

We also discussed the TSE (Transcutaneous Spinal Electroanalgesia) machine - which I forgot the charger for when I went to the States - so Alyssa didn't receive it at all, and was not any worse from that aspect either. The pain specialist said he was not surprised to hear it was not having much/any effect now as he has found that this does tend to be the case in chronic pain. Everything works for a little while, then it's time to find something else. So we have also given up the TSE for now ... and she's doing remarkably well! I'm not sure if it's the OT exercises we've been doing which are helping already (although there is already a noticeable difference in her posture) or some other spontaneous reason, but she is doing pretty well at the moment with regards to her guts and is really only obviously painful just at defaecation again now.

Of course *sighs* this automatically means she is scratching more (the gut pain distracts her from the itching to a certain extent) and they are a bit yin/yang in relevance to each other. Whenever one gets better, the other gets worse ... so hopefully the dermatologist can find the new antihistamine for us to try soon ... and even more hopefully, it will work!

Signing off for now ... yet again it's late and I've done hardly anything on my "to-do" list! But at least all you "impatient" folks know how NY went - in detail! ;-)

xx

part two ... continued!

2009-11-08T14:16:00.002Z

We had the Wednesday to ourselves and it was unfortunately not a very nice day, but we went to the American Museum of Natural History, which was pretty cool! Dinosaurs were HUGE ..... who knew!?! ;-)

Thursday 29th October

We'd managed to be squeezed into Dr Feldman's (chief orthopaedic surgeon, who is very experienced with the HSAN disorders) hectic schedule and had been given an appointment for this morning. I hadn't slept much at all overnight because I kept worrying about what he was going to find .... and what I had missed, despite being so cautious and observant with her at all times! :-(

I explained to Dr Feldman why we were there, that Alyssa was being classed as having one of the HSANs (but obviously not any of the main five that would be easy to predict the type of joint problems she'd get) and that Dr Axelrod had been concerned about her knees and hips. I also explained that I had previously been worried about her hips because I felt that her L hip was partially dislocating on a few occasions when I'd changed her, but that she'd had xrays taken and the orthopaedic specialist here had said her hips were perfectly normal. Dr Feldman nodded and asked to watch Alyssa walking, which Alyssa was not entirely co-operational about but was eventually persuaded into doing so by her big cousin! He said he could tell immediately that her hip wasn't dislocated, but that he was also concerned by her gait so would have further xrays done to see exactly what was going on.

The radiographer was not the most helpful man, and didn't seem to understand that Alyssa could not stand still long enough to have the xrays done - despite me trying to make that clear to him several times, and he got annoyed with her after several xray attempts. Between Alyssa's constant itching and her inability to stand for very long (as well as being TWO, AND SCARED!), she was fidgeting constantly and wanting lifted up and he did not have much patience for any of these things unfortunately. I ended up saying that he would just have to lie her down for the xrays - but he had obviously just decided that as we said it at the same time, and there was no problem after that. I had to hold her so she'd stay still, but she understood and wasn't having to weight-bear while he got the machine in position so she was perfectly happy! The whole thing could have been over much more quickly if he'd just let her lie for the whole lot, and made it less stressful for all of us! :-(

Dr Feldman came back in and reviewed the xrays and said that he was actually very happy with the results. There are no orthopaedic problems at the moment, and that she is just very lax (which we knew) and that this - compounded with the lack of pain sensation - has caused her to be very unstable, so she has learned to walk in whatever way she can. She does have profound lordosis (curved/arched back posture) but no sign of scoliosis (where the spine actually begins curving) so she needs fairly intensive OT work, and for us to keep an eye on her positioning.

He went on to give us advice for the future in what we need to be looking for, what we need to avoid her doing and what advice NOT to accept from other doctors who are not experienced with the HSAN. He said that the HSAN are such rare children that they need to be treated very carefully, and that things that will work for every other child will not do for an HSAN patient. Any time I am worried about her joints/limbs/fingers etc - no matter how small the concern may be - he said to make sure I get it checked up correctly, and not accept any doctor saying "it will probably be fine" ... because it won't! The HSAN are so prone to orthopaedic problems and they cannot be fixed by "regular" means that they require specialist intervention at all times.

The things I need to watch for with Alyssa specifically are:

* Her posture when walking - Melissa is helping me correct this, with the program she's created and the exercises should help this. Alyssa has also already been measured for a specifically-designed lycra bodysuit by our orthotics department, which she has still to get but which should also help to correct her posture.

* Her posture when sitting - she is not allowed to sit on the floor, because of her extremely lax joints. This puts too much pressure on joints which are already too flexible, and puts strain on them which we need to avoid. She also sits most of the time with her head on her chest, and we are to correct her whenever we see her doing either of these things - or with any other "weird" position we see her using. We do already do this, but he made it clear how important these things were and my MIL pointed out yesterday that Alyssa actually self-corrected her posture ... just as MIL was about to tell her! So that's progress already!

* That she should only be allowed to do "low-impact" or "non-impact" sports, such as swimming, because of the high likelihood of unnoticed fractures, as well as the constant pounding that she will get from these activities. Swimming is the best (and usually the only!) sport that the HSAN can take part in, and it also helps with their proprioceptive abilities so it is good for them in an overall sense, as well as for their joints!

* That we should have yearly xrays taken of her lower extremities and spine, to monitor for problems that can then be detected early. Dr Feldman offered to assess these and stay in contact with us via e-mail, so we have an expert opinion on any areas of concern.

I was so relieved that there was nothing "new" wrong with Alyssa, and that I hadn't missed anything! I had to e-mail Alyssa's paeditrician straight away also; because I'd updated her on Dr Axelrods' concerns, so she thought she'd missed something too (something I doubted because she doesn't miss much!) so she was also glad to hear that everything we thought about Alyssa's gait was actually correct! And that there is nothing underlying that we haven't picked up on! :-D

Friday was Halloween so we did some "halloweeny" things, went to Central Park Zoo, bought outfits (except for Alyssa, who already had her Tinkerbell costume packed for the journey there!), and attempted to attend the special NY Halloween parade at night. Unfortunately; it was raining like there was no tomorrow, so we couldn't get near enough to see the parade, Alyssa was screaming because the rain was getting at her (she can't tolerate rain on her legs/arms etc, and wouldn't keep the buggy rain cover on because she overheated so quickly with it on) and we ended up being out in the street, hiding under lots of scaffolding ... with MANY other wannabe party-goers! Then got stuck in traffic for an hour before getting home drenched, and missing the parade on tv too ... so we saw none of it at all! Lol!

Sat/Sun we had off so did the NYC bus tour and saw the Empire State Building (the "castle" that Alyssa loved so much!) then the Statue of Liberty - both of which were awesome! I do vaguely remember seeing them last time I was in NY, but was also suffering from the joy that is HG (Hyperemesis Gravidarum) so I was very dehydrated at that time and didn't even realise how sick I was. I was hospitalised a few days afterwards, where it then became apparent I didn't "just" have morning sickness! This time round, the trip was MUCH MORE FUN and I actually experienced NY like it's meant to be! :-)

The New York Trip .... part two!

2009-11-08T13:44:00.003Z

Well, had a few days off that I hadn't planned on - have been ill and then decided to actually have a night to myself lol! ;-)

So .... left Dr Axelrod's office on Monday with plans to schedule another appointment once she had the medical information she needed from the team here (ie which tests etc still required to be done) and heading to Connecticut to see the OT, specialised in Sensory Integration.

Tuesday 27th October:

Melissa Chaikin Kahn (the OT) was also just as sweet in person as by e-mail, and has to be one of the loveliest people I've ever met! Alyssa was immediately impressed! :-) Melissa explained that the first part of the 3 hour evaluation had to be done without myself or my mum etc there, and that I should take Alyssa into the sensory room and try to leave her without a fuss. Normally, Alyssa doesn't really mind what's going on ... as long as I'm there ... but Melissa and her team took her through and she just went quite happily! (I did hear her calling out "mum" a few minutes later, but she wasn't concerned and was very easily distracted by them - so she was perfectly at ease). After the initial assessment part was over, we (mum, my niece Alychia and I) were all invited in for the second part. Alyssa was very pleased to see us, but looked like she'd been having a great time!

It was very obvious that she was already exhausted, but she's a very determined little girl and kept trying her hardest to keep going with all the different activities asked of her - despite finding a lot of them really difficult! There was one part where Melissa wanted Alyssa to sit on a swing that rotates 360 degrees and asked her to throw bean bags into a rubber ring lying on the floor - from a swinging position. Alyssa's proprioception and low muscle tone made this extremely difficult for her, and she fell off the swing countless times and hit the mat. With the level of energy Alyssa has to put in to use her throwing arm - in addition to the fact that she has very poor control of her lower body - meant that her entire body just followed her throw! Her lack of pain sensation then compounded this, so she didn't care when she hit the mat each time! She did manage to stay on the swing once told to hold on with one hand, while throwing with the other ... and she then managed successfully to throw the bean bag into the ring! But she still had to be told to wait until the swing had slowed before attempting to get off it. Her poor velocity-perception (no doubt also compounded by her Pain Insensitivity) meant she didn't even think to wait until it was slow enough to get off it, and tried to get off it when it was still going pretty fast ... and fell off! Lol! So there was a lot of learning curves for her ... very quickly!

It was really hard work for her, but she did enjoy it. Melissa and the other two girls (who were taking notes the entire time) were discussing what Alyssa's strenghts and weaknesses were, as she did the various exercises and things asked of her. Melissa is the only person to-date who has been able to account for Alyssa's sudden "pallor" episodes, and noted that she went very pale with white lips - something she has done repeatedly, which testing for various things has never given an explanation for - whenever she was required to do any "rotary" movement. So things such as rolling on the floor, spinning or even just any task that required her head to tip, made Alyssa turn pure white, start yawing and "shut down." There is clearly some type of vestibular component to these episodes, and I was very grateful to Melissa for having noticed these things.

To be fair; Alyssa did actually scare Melissa the first time it happened (and this is true of many situations where other people have been watching her, because it's happened so often), so this is probably why she paid so much attention to it. But still, it answers a lot of questions and explains why any physical activity exhausts Alyssa so easily! Any activity which requires her to physically pull her body over obstacles, or get up from a lying position causes her to use her head as a stability aid ... and this is obviously causing her more problems than I originally realised. I merely put the exhaustion down to her being so hypotonic, and that she just needed to use more energy than everyone else in order to achieve the same results. But it is that AND the vestibulary problem that are complicating things.

Melissa had to create a program for Alyssa and I to follow at home, based on that one 3-hour session (she normally does this after having a block of 6 sessions!) so there will be some fine-tuning but I have no doubt that it will help Alyssa! She showed me some of the exercises I have to do with Alyssa - built up gradually - and we could see a difference in Alyssa's posture after just a few! :-D

I also told Melissa about Dr Axelrods' concern regarding Alyssa's knees/hips and I spotted a knowing look between Melissa and the other girls ... so clearly they'd already been wondering if there was an orthopaedic issue going on unnoticed. They seemed relieved that it had already been spotted!

We had a long chat about Alyssa's biggest problems, and which areas she needed work in and agreed that I would go back before the end of my NY trip to organise some parent training, so she could go through the various exercises that would be expected of me, once home! I was very grateful to her (and the other girls!) for managing to fit everything they did into that one 3 hour session for Alyssa, and totally impressed by the whole thing! Alyssa was absolutely exhausted by the end and slept the entire way home, but she gets exhausted very easily anyway so ALL physical activity affects her in this way. But as soon as she came to, she wanted to go back and play with Melissa! :-)

The New York Trip .... part one!

2009-11-05T16:48:00.003Z

Not really sure where to start - there was so much to take in, so much to see and so much going on (not to mention the fact that I'm still jet-lagged so functioning on basic mode only!) ;-) but I guess I'll try to describe the whole of the initial period. I wasn't going to mention the flights/security etc but it's probably good for those with HSAN - or any other child/adult with a lot of medications - to know about.

The airport at our end (Edinburgh) wasn't too stressful - aside from the level of stress I was already under due to not having flown with any toddler before let alone ALYSSA, not having gone through security with liquid medications before, and just the general stress of how important this trip actually was. Once the security crew realised we were going to NY because of Alyssa - for medical reasons - they were really helpful, and went through everything slowly and were really nice about the fact I forgot to get rid of Alyssa's water before going through (meant to empty her cup just before it and buy more on the other side, but forgot due to being stressed about the meds!) ... then we sailed off into the waiting lounge where Alyssa and my niece Alychia (her travel companion) played with the toys set up in there.

The flight itself was fairly non-eventful, except for Alyssa refusing to sleep for most of it and only eventually giving in for about an hour so she was a very tired and cranky girl when we arrived at Newark Airport. Customs didn't go as well as planned as forgot to complete the other side of our green cards (d'oh!) so got sent back to redo them. Have to say they were not particularly helpful when people who don't fly often don't know the drill! They also seemed a bit suspicious about the fact there were two children with a similar name ... even though they had different surnames ... and both had passports showing this! Got out of the airport and joined the longest taxi queue I think I've ever seen, and was still pretty stressed as had a mother who has never flown before or had to go through security, a toddler who was tired, cranky and playing up - but wanting out of her stroller - and a 10 year old who was ill just before we left, hadn't slept much and was feeling dizzy. In the midst of checking everyone was accounted for, the taxi had the correct address and getting all the bags off the trolley, we managed to leave the folder containing ALL the medical information I'd specifically packed .... AND THE PASSPORTS .... on the trolley! And didn't realise until we were almost at the hotel, which was a 45 minute drive away! Aaaaaarrrrrgggghhh!

We did manage to get them back after much stress and phoning round various departments and people who weren't particularly helpful, but won't bore you with all that! Let's just say I was a VERY stressed and exhausted lady by the time we actually managed to get to bed!

Sunday 26th Oct:

I had already arranged to meet up with some of the amazing women I "met" online during my Hyperemesis Gravidarum (HG) pregnancy ... those who helped me survive it! And - of course - their absolutely gorgeous children, the whole reason for going through with HG in the first place! :-) We met for lunch in a cute little place called The Pink Teacup, and it was unbelievably awesome to finally meet IN PERSON the women who are some of my best friends now! To go through a disease like HG is something that no-one else can truly understand - how it affects your body, mind and spirit completely - and it was amazing to finally have the chance to see them for real! We all took pics which will be posted on Facebook shortly (for those of you who know me there too) and - once I work out how to do it - on the website too!

Monday 27th October:

Met Dr Axelrod ! She is just as lovely in person as she is via e-mail correspondence, and just as helpful! *We went through Alyssa's medical hisory in detail, then she arranged for the Nurse Manager to examine Alyssa fully before they decided which tests were appropriate for Alyssa's age-group. Finally it was decided that she could have EMG (electromyography) and NCS (nerve and motor conduction studies) done, and that we would take blood for anything else thought to be relevant.

*Of course, almost all of the medical information sent from the UK had gone AWOL on the way to the US, so she didn't have much to hand when I arrived and we had to do a quick revision of a lot of stuff - whilst asking for info to be e-mailed ASAP so Dr Axelrod could review it, before I saw her again at the end of our trip. Thankfully; Alyssa's brilliant paediatrician came to the rescue yet again, and immediately e-mailed the information she had available there and then, and followed up anything else Dr Axelrod requested, as and when it was required!). We love Alyssa's paediatrician! (in case you hadn't worked that out already!) ;-)

During the initial physical examination by Dr Axelrod and her Nurse Manager, Alyssa's abnormal gait was noted very quickly - as well as the fact that her right knee appeared to be higher than her left! This caused immediate concern by the medical team - due to the joint damage that children with HSAN (Hereditary Sensory Autonomic Neuropathy) are likely to suffer from, and it was strongly recommended that I go and see Dr David Feldman, an orthopaedic specialist, very experienced with the HSAN disorders. The EMG and NCS were performed on Alyssa, which she tolerated reasonably well, considering she is still pretty floppy and it required her standing for a fair bit of time - which she was not agreeable to! The NCS basically consists of sticking small sticky pads (electrodes) on her hands and feet in specific places, and recording the conductivity of the nerves. The EMG requires needle electrodes to be inserted into the muscles, and then for those muscles to be contracted and relaxed while the electrodes are in place. The machine records the electrical activity of the muscles, and the examiner determines if the results are within the normal ranges.

Alyssa has had NCS done before at the paediatric hospital here, but she has never had EMG done before. The EMG was very intesting; and amusing because she had needles approximately 3 inches long inserted into her thigh, calf and bicep muscles .... and she didn't even blink ... but then she started freaking out - because the examiner was touching her feet!!! :-S He apparently had "cold" hands and she was not happy, but it was necessary so she just had to put up with it as best she could. The EMG and NCS results were thankfully normal at this time! :-)

Once all of this was done and it was clear to everyone involved that Alyssa definitely did not respond to pain like she should, Dr Axelrod and I had another chat. We discussed the likelihood of her diagnosis and that there is very little doubt that Alyssa has one of the HSAN disorders! The problem now is determining WHICH of the HSAN disorders she has, but the most likely candidate is not "one of the five" normally mentioned ... but one of the "other two" which are still being researched. The one Dr Axelrod believes Alyssa has is Congenital Autonomic Dysfunction (CAD) with Universal Pain Loss, and Alyssa's profound hypotonia (low muscle tone) and hyperalgesia (which is "heat and cold" aversion in Alyssa, but it can present with aversions to various sensations) as well as her constant itching sensation, make this the most likely of the HSANS. As we all know by now, she also has quite a lot of autonomic symptoms (her excess sweating, her diarrhoea/constipation issues as well as her gut pain, fatigue, heat intolerance, clamminess etc ...) so she definitely fits the dysautonomic section of the HSANs so she (and I) have had blood taken as Dr Axelrod feels she now has a small group of people - including Alyssa and I - whom she can now begin a gene search on. This means she will start the process which will hopefully enable them to find the gene responsible for CAD which is - as yet - unknown; therefore it cannot be detected by genetic blood testing at this time. With any luck, it will be found between Alyssa's and the few other patients Dr Axelrod suspects to have it, and future patients will be diagnosed more easily.

Ok, going to have to call it there for now. Still pretty jet-lagged and my eyes are now closing on themselves whilst typing this out! Will post the next section as soon as possible! Hopefully, this is enough for now - for those of you waiting impatiently ;-) to read it!

x x x

The last post ....

2009-10-23T22:22:00.003+01:00

until I return from NEW YORK!!! (Yay!)

It's been a REALLY hectic week - as I'm sure those of you with experience of Pain Insensitivity can imagine - because of all the things that can and do go wrong! But somehow we made it, and the trip is here with me being relatively ready for it!

I'm a bit anxious about the whole airport/flight thing, more due to "the unknowns" with Alyssa, but once tomorrow is over and I've experienced it, I'll know what to expect on future trips. The flight is just short of 8 hours so she'll definitely sleep for some of that, but we'll see how well she copes stress-wise. Have spent so long thinking about the trip being TOMORROW ... that I didn't actually focus on the fact that we're seeing Dr Axelrod on MONDAY! :-D Then the Sensory Integration specialist Melissa Kahn on Tuesday. It seems a bit surreal, that it's not actuallly this week!

Am doubly excited about this trip! Not only am I meeting arguably the worlds' most informed expert on the HSANs (Hereditary Sensory Autonomic Neuropathies) and a specialised Occupational Therapist (OT), but I'm also meeting up with some of my "HG sisters" as we call each other. These amazing women helped me through my absolutely awful pregnancy with Alyssa, and are now some of my best friends ... whom I've never met! Some of them are still battling Hyperemesis Gravidarum (HG) - see website mentioned above for details - but are still making the journey to New York, to meet Alyssa and I. It's just unbelievable, and amazing!

Alyssa's gut pain has been pretty bad this week unfortunately, but she seems to be settling down again to HER normal ... so here's hoping Dr Axelrod and team can come up with some answers. The anaesthetist did contact me through the week after receiving my latest e-mail, and advised on some procedures/medications that they are currently thinking of, and keen to know the opinion of these - as well as any other suggestions - from the States.

The current theory regarding Alyssa's gut pain is that - for whatever reason that is not yet understood - she is oversensitive to her colon contracting, prior and during defaecation. And that because she does not feel the usual "bumps and scrapes" that other children learn to distinguish between as they grow, she has nothing whatsoever to compare it to. This makes it excruciating for her.

This is certainly a workable theory, but still does not explain why she is oversensitive to colonic contraction but gives me a new area to pick Dr Axelrods' brain about! Like she doesn't have enough to deal with, in seeing Alyssa! ;-)

Ok, off to bed for early start (and the hundredth check that I've packed everything!), will post again once home and can update with what we've hopefully learned. Not expecting to have a diagnosis while we're there, but the testing Alyssa's having done will hopefully narrow down the possibilities some and make it a more likely possibility that we'll have answers in the near future. If I can find a way to help her deal with her heat/cold aversions, then I'll be happy ... for now! :-)

Sad to say ...

2009-10-19T23:13:00.002+01:00

that it appears the anal stretch surgery has not had it's expected effect. :-( Already; Alyssa is back to straining/crying (sometimes almost screaming again!) and begging for help when she needs to have a bowel motion ... which pretty much sucks! She is still a bit happier during the day than she was pre-surgery which is obviously brilliant, but this is only if she does not feel the need to go. She is constantly asking for "help" again, and I am yet again irritated that we appear to have gotten nowhere. Of course, I am also irritated for various reasons which I shall refrain from posting about here, due to most likely regretting it once it is "out there" but suffice it to say that certain medical professionals are not pleasing me at the moment!

I seem to have fought with everyone today - all in "Alyssa going to New York" related matters, which also is not great! I don't need any extra stress at the moment, and I certainly don't need to be running about like a headless chicken because someone has failed to do their job! I am not a happy bunny today (in case you had not worked that out!) ;-) Plus, it was just one of those days where anything that could go wrong did go wrong - or was just as complicated as it could possibly be ... as if life really just wanted to annoy me today! It worked!

I still hope to find out which "pioneering" procedures the surgeon was contemplating as possibilities which would help Alyssa's gut problems, because I would like to discuss those possibilities with the New York doctor and see what she thinks. She may well have no idea if either procedure would help Alyssa, but she's more likely to than anyone else! Here's hoping I achieve it before Friday!

Ok, just a short post today - just to let you all know that my poor baby who "doesn't feel pain" is feeling it very much again ... and that it seems to be increasing daily, just as her food intake (but NOT her output) increases. Despite the laxatives, she is back to being almost as uncomfortable as she was before last week. It seems so unfair that she should not be able to catch a break. But she's sleeping for now, so at least she's not feeling it at the moment!

xx

A post-op update ...

2009-10-17T19:30:00.002+01:00

Finally getting a chance to update now!

Thursday wasn't too bad; met the surgeon before the procedure went ahead and we had a bit of a chat about Alyssa's history. After hearing her story (as much of it as I could actually manage to, with an unhappy Alyssa wanting to get back to play with the "toys"!) he said that Alyssa wasn't the usual type of patient to be having this procedure (anal stretch) done, because it was usually children with chronic constipation who required it. This I already knew due to my own research, but he also said that he still felt it would help reduce her pain somewhat so he was prepared to go ahead with it. He wanted me to understand that - if it helped her - it would unfortunately only be temporary because the muscle strength of a young child will return much more quickly than that of an older child. He felt - much like Alyssa's paediatrician - that it is actually a problem with the propulsion of her bowels that is Alyssa's main issue, which is causing her pain ... that and her inability to feel "normal sensation" because of her altered sensation. She may well be straining to pass bowel movements because she feels some sensation but not enough to know how hard she should be pushing, or she feels the urge to push too easily but feels it as pain. He said that there are a couple of other surgical options that could help her with the propulsion problem of her guts, but that - because he knew we are going to New York next week - there was no point discussing those options at present, until we see what the "experts" say. He will be very interested to hear what is suggested to help with the gut pain.

The op went ahead and was pretty short duration. She came round in her usual "I can't actually walk yet, but I'm not going to stop trying" kind of way ... she never seems to have a sleepy period after a GA! She's always completely hyper afterwards and wants to do things immediately, even though her body isn't in agreement with her mind! But she was trying to attack her poor little rear end straight away and complaining about how "soooo" (sore) it was, but thankfully that subsided fairly quickly. She also had her other remaining teeth crowned while under the GA, so she now has 4 "shiny, silver teeth" (which only princesses have!) ;-) so hopefully there will be no further chewing damage for a little while. Will see the dental team in 3-4 months, unless I have problems before then!

We had a pretty rough time Thursday night, she was her usual begging self when put to bed that night. There really are no words for how awful it is to hear your child crying in pain, and begging for you to help them ... or how cruel it feels to pretend you're immune to their cries. But I have no choice but to just try and ignore her until she manages to fall asleep, because I've already given her everything she can have by that point and am then completely powerless! :-( She begged for help on and off all Thursday night, then was up from 6:30 Friday morning doing the same, and I was really losing the will to live .... but trying to remind myself that - for the first time ever - she was feeling post-operative pain, and it was bound to be confusing for her! And holding on to the hope that it was just post-op pain; as I had really hoped that once we had the op, I wouldn't have to sit here and listen to the cries for help any more! *sigh*

Anyway; she is much improved today. Hadn't managed to pass anything up until late this afternoon which was starting to concern me, but she eventually went little and often - with a fair amount of pain unfortunately - but was at least relieved for a little while. She's had a few really bad bouts today, but in-between times she's been really happy and hasn't been straining for hours on end. She went to bed last night playing games, giggling and babbling away to me ! which is just unheard of ... and then went straight to sleep! I can't remember the last time she didn't howl for at least an hour at bedtime about being in pain ... so am optimistic that the painful bouts really are post-op pain and will continue to reduce. She is still sore when going, but that again could still be because she's tender inside.

It's now a week until New York - well, in a week's time we'll literally just be landing in Newark Airport (barring any delays!) so lots to sort out this week. Had a bit of a joke trying to get travel insurance for Alyssa - despite telling the companies several times that I didn't want or need THIS CONDITION covered, because she was going specifically for testing/treatment ... but that I still wanted to make sure she was covered for unrelated accidents/injuries etc! That apparently is confusing ... but I seem to have managed it. Currently sorting out the currency stuff, and what I need to do about all her medications but fairly sure I'll have it all done by the time we leave!

Ok, off to have a bit of "me time" and will post again soon! x x x

Where we are now ...

2009-10-13T21:20:00.003+01:00

Wanted to make sure that the businesses who I've had posted for the last few weeks, didn't disappear and the "news" section is automatically deleted from the history as soon as I update it. So I'm just going to copy and paste the really lovely people here, who helped us with our fundraising in one way or another.

* Premier, Tron Court, Tullibody

* Tron Cafe, Tron Court, Tullibody

* Michael R More, Main Street, Cambusbarron, Stirling

* Matz Motorcycle Training, Springkerse, Stirling

* G Johns Newsagents, Cambusbarron, Stirling

* Broadleys Veterinary Hospital, Springkerse, Stirling

* Central Pharmacy, Tron Court, Tullibody

* Mim's Market, Main Street, Northfield, MA, USA!

* St Saviours Church, Bridge of Allan, Stirling

* Prudential and Capita, Stirling and Reading, UK

* First Choice, Stirling - special thanks to Deborah!

* Stirling High School

as well as many exceptionally lovely individuals whom contributed their time and services, as well as their finances! :-)

Met with Alyssa's paediatrician today for a quick general review, and go over the necessary paperwork I'll need for the trip to New York. Was a pretty good meeting today and we discussed the various aspects of Alyssa's problems - her posture and walking issues, her itching, gut pain and general comfort, her medications and the changes likely to happen in the near future, her diet and how well she's eating now (yay!), and obviously New York. We also discussed the fact that Alyssa's speech has clearly improved since last time we were there, but that I have also referred her for speech therapy as well. Quite where I am going to fit in speech therapy is another matter, but one I'll deal with once home from New York.

We also discussed (again) the surgery that Alyssa's having this Thursday at Yorkhill Hospital and debated the likelihood of it actually helping. It's still not exactly completely clear what is actually causing her pain - ie if it's the nerves in her digestive system that just aren't working properly to help propel things along, or if there is a physiological aspect which makes bowel movements seem impossible for her. She has had two previous endoscopic procedures and nothing abnormal was noted then, but she presented as a very different little girl back then and this was not something they were investigating - just any inflammation and a reason why she'd have so much gut cramping at that time. This small procedure may help ease her bowel movements and - if so - would make a huge difference to her daily life.

So we can only hope it helps. I am usually pretty good at not letting my hopes get built up for anything "trial-like" like this, where we have no idea what the outcome will be, but I have to admit that I already know I'm going to be gutted if she's not more pain-free after it. It's so hard to watch her every single day straining (sometimes to the point of screaming) and telling me how "sooo" (sore) she is. But there are really no words to describe how awful it is to hear her little voice over the monitor - every single night - crying "help" and begging for me to stop the pain! And then having to listen to that for an hour or two until she finally gets so exhausted that she falls asleep. :-( Logically, this procedure should help ... but we've had so many things which should have helped her - logically - but didn't, or backfired ... so I shall try to contain my thoughts and just wait to see what happens.

She's stomping her feet a bit more obviously again when she walks (and Alyssa's paed pointed out that she noticed it more clearly today too); and one foot is more turned in when she walks now, so she's falling over quite a lot again. Not sure if this is still a proprioceptive problem, or another physiological reason - her hypermobility and low muscle tone do make her pretty accident-prone, and are probably contributory to it all. Her posture is still pretty much the same, and she still has to be reminded to keep her head up off her chest when playing - plus her hypermobility still makes feeding herself with cutlery difficult, but the OT was hoping for solutions round that. Her heat and cold issues seem heightened again and she is once more screaming when put in the bath, and bracing herself for entering the waer. Hoping the specialist OT in New York can help me with these issues.

Ok, rambled again for longer than I meant to. There's always just so much to cover when I finally manage to get on here! Will post again once the surgery is over, and I have a rough idea of how she's doing post-operatively.

Just a quick message ...

2009-10-12T09:12:00.002+01:00

to say that I'll update more later, but to let everyone know who hasn't seen the website page that WE ARE NOW AT OUR TARGET FOR NEW YORK!!! :-)

Have finally stopped panicking that we won't have enough money, and am fairly sure that everything will be covered with the money we've raised. Any extra will go on the credit card and I'll worry about it when I get home again! ;-)

Thank you to everyone who has supported us, and helped us in whatever large or small way. There are a zillion thank you cards sitting here which I just haven't gotten round to sending yet - but please know how grateful I am to you all. Alyssa will understand when she's older, how everyone rallied round and helped us.

Thanks again
Moira x x x

2009-10-08T14:33:00.004+01:00

Wow, it's been a week again already!!!

Discovered when getting to the hospital last week that the anaesthetist still didn't have a surgery date for me, but he phoned me the next day to say they'd managed to organise it for the 15th (a week today) and that he'd check with the dentists to make sure they could all be there together. Had to double check with the dentists yesterday, because Alyssa was due to be there today again having another crown fitted - which I really wanted done under the GA seeing as she was having a GA anyway, due to how distressed she became last time - and thankfully, they are able to do everything at the same time. So got a little hospital reprieve today! :-)

Unfortunately, she's had a really difficult night and was complaining for hours last night about her sore tummy. It was really difficult for her to get to sleep, and she still hadn't managed to pass anything by this morning - despite straining for hours at times. Poor girl! She has now managed to have a small bowel movement, but not nearly enough and is still in pain. :-(

Her mouth is slowly healing, and she has not been allowed to drink from bottle since I discovered that she was damaging her mouth from them. There is still a fairly large ulcerated area where she tore it open, but it is much better than it was last week! The dental team will be able to get a good look at it (and the rest of her mouth) when she is asleep next week for the anal stretch surgery - which we also hope will finally put an end to her abdominal pain.

Fundraising News:

We have now more or less met our target for New York!!! Thank you to everyone who has helped us get to our target in such a short period of time! :-)

A very dear friend recently held a "bring and buy" sale, which raised over £700 ... and we held a Pub Quiz on Monday evening, which raised just under £700 - absolutely mindblowing, and we were all overwhelmed by the support and generosity shown at both events. Prudential raised £2500 (as well as individual employees donating on their own behalf!) for us, which was just a staggering amount of money, and I have just been told that Stirling High School have raised £950 for us today! They were meant to be raising money for their own purposes, then decided they would give half the proceeds to Alyssa's fund. By all accounts, they have since changed their minds ... and donated it ALL to Alyssa! There are no words to say what all of this means to me! And what it will mean to Alyssa, when she is old enough to understand how many people went out of their way to help us! :-)

So; the flights are booked, the hotel is finally booked (although not actually paid for as yet - the card has been pre-authorised but not actually charged) and the fees are covered by the amount Prudential raised. And I am no longer panicking about how much money I need to raise before we leave on the 24th! If I discover that I need more while there, it will just go on the credit card and I'll worry about it when I get home. Likewise; if I discover that we end up with more than we needed, then it will go in a separate bank account for Alyssa - in case we need to go back - or it will be donated to Yorkhill Childrens' Foundation, if we find out there will be no need for us to go back in future.

Thank you once again to everyone who has helped us achieve our goal of getting to New York to see Dr Axelrod. Now to hoping she can help Alyssa with her many issues ...!

A quick update before hospital this afternoon ...

2009-10-01T11:10:00.002+01:00

Only have a few minutes but thought I'd give a quick update while I can - so I don't forget to put something else that the joy of Pain Insensitivity brings us!

We've spent the last however many months trying desperately to get Alyssa to drink juice ... because she gets medication that is more easily given if disguised in juice (she can taste it in water and won't drink it then!) so we've been letting her drink "Fruit Shoots," which are essentially little pre-filled bottles with sports-drink type caps on them. Now normal children - ie with teeth actually use their teeth to open them, but Alyssa doesn't have any at the front of her mouth at all. She only has the four last molars left, so she uses her gums to open them. A long time ago when we were seeing the SaLT (speech and language therapist), we were told that many children had all of their teeth removed, and that they learned to eat/drink etc perfectly fine because their gums just hardened up in place of the teeth. And - from my own experience as a veterinary nurse (which now seems like another lifetime ago) I know that we've sometimes removed all of a cats' teeth ... and they go on to eat dry food just as well as they did when they had teeth.

However; either Alyssa has had a "weakened area" at the top of her mouth where her teeth were extracted, or it just hadn't hardened enough .... and I discovered to my horror on monday that she has been gouging a hole in the roof of her mouth, opening the bottles! I am not a squeamish person (a good job, I hear you say!) but I was actually gagging when I saw the crater she'd created. She was - as usual - completely unconcerned and unaware that there was even a problem. I only noticed because I happened to glance over at her, and saw the blood running down the top of the bottle as she drank!

Needless to say .... Fruit Shoots (and any equivalent) have now BEEN BANNED!!! :-( Thankfully, Alyssa is still accepting the juice from within them from her cup (she wouldn't do that before) so she chooses which colour/flavour she wants in the morning now, and then watches me pour it into her cup and stir it (while I mix it with the powder that she's not really aware of!) ... then takes it back through to the livingroom and drinks it all. Phew!

I have the hospital this afternoon, where I'm seeing the Specialist Anaesthetist / Pain Specialist and I'm really hoping he now has a surgery date for me! I was promised that it would be done in "plenty of time before New York" and I now have three weeks to go. That may still be three weeks to everyone else, but I have a zillion things to do before being ready and organised to go! Travelling on an 8 hour flight would be challenging enough with any two year old, but with Alyssa it's going to be verging on the almost impossible - and I need as much as time to plan for that as possible! The surgery will either help her or not, and I need a bit of time to guage if it's had any effect or not ... because that will also affect my flight plans. Not to mention I'm still trying to sort out accommodation, find out what documentation I'm going to need for her to actually travel and find out exactly what the rules regarding medication are!

Then there's the packing - in between the fundraising events, medical appointments and her usual daily stresses to deal with - as well as remembering all the "little things" I'm going to have to make sure we have with us, because of her unusual severe aversions to things. Aaaaaaaaaaaaaarrrrrrrrgggggghhhhhh!!!

Ok, baby steps! Hospital this afternoon, find out details available now ... and take it from there! Thanks for reading!

It's been a long day ... again!

2009-09-27T21:52:00.002+01:00

Well, am having a bit of a pity party tonight - although I don't really have the right to because it's poor Alyssa who's having all the problems. She's had a cold for a couple of days, and been "wellllllllllll" (while shaking her head .... which actually means she's not well!) but today she's really got a chesty cough, and she had a few coughing fits today where she's been unable to breathe at all ... which led to more coughing ... and less air, so she started panicking ... and just got in constant vicious circles. Poor baby girl.

To top that off, her tummy has been particularly sore today for some reason and she was miserable due to her guts cramping and also because she's got the cold. And now - after monitoring for the last 24 - 48 hours - I've just realised that she's got an abscess on her back. *sigh* I have actually been watching that particular area for the last couple of weeks since she had an incident with the TSE machine. She pulled one of the sticky pads (electrodes) off - which in itself is nothing unusual - but on this particular occasion, she managed to fold it over on itself so it was stuck to itself. I didn't think anything of this, and merely peeled it apart and replaced it. But when I removed it after the TSE session was finished, it appeared to have burnt her - and caused a blister - and the top layer of skin peeled off. Now she hasn't really gone for it like she does with most wounds, because she can't see it (and therefore, presumably doesn't even know it's there) but it's now really fiery and full of pus. :-( So looks like we'll be seeing the doctor tomorrow.

On the upside: we saw the dentist again on Thursday and he seemed quite pleased with the ulcer, and that it appears to be healing now the upper molar is crowned. So he crowned the lower one on the same side, and we're going to do the other two in a few weeks. He says if crowning them even saves them for a little while then it will prevent her adult teeth coming down too soon (and making it more likely she'd need them removed as well, to stop her biting herself!) ... so we're fairly optimistic. Alyssa got pretty upset this week getting the crown put on, and was really distressed at one point. Which was a shame, because she'd been so happy the week before. But I believe that the cement was a bit cold, and that to her is unbearable - so she panicked at having something so cold in her mouth. Again, yet another catch 22 situation. :-(

Still no date for the surgery yet *sigh* so hopefully I'll finally get word in about it this week. It's very frustrating that this may be the answer we've been waiting on to get rid of her gut pain when we're still waiting for it to happen. (and having a child who "feels no pain" ... but is ALWAYS in some degree of it, is not only confusing to others who want it explained, it seems downright cruel!)

Her sense of "heat and cold" seems to be a bit less obvious to her now. She's constantly freaking out about the temperatures of things (bath water, wipes, etc) and clearly can't tolerate them - but doesn't seem able to tell if it's because they're too hot, or too cold that she's so uncomfortable. And bathtime is now back to the hell it was before the digital thermometer, despite trying to match it to her temperature as much as possible ... she's just so miserable until she's finally adjusts to the temperature and it's adjusted to her, and by that point it's time to get out. She's holding on again constantly, and crying that it's either too hot or too cold! :-(

We also should really be at the stage of toilet training by now and that just brings up so many new problems, that I think it's where my pity party is coming in. I can't quite comprehend how I'm going to get round her many issues, to achieve it yet. My brain is not allowing me to process the practicalities of it all. Assuming the surgery does fix her gut pain then I could at least start attempting it, but it wouldn't be fair to put her through that at the moment - it can be at least 3-4 hours of "needing to go" before she's actually able to just now, and that would just frustrate her and give her negative reinforcement. She doesn't need any more of that. But having pain insensitivity also means that there's a chance she won't feel "the need to urinate" either, as many children don't and have to get a toilet schedule, being reminded every few hours that they should go to the toilet. I am fairly sure that Alyssa can feel the urination urge and she DEFINITELY knows when she needs a bowel movement, but again that may change completely after the surgery. It may remove the pressure build-up so much that it takes away the pain she does feel, but then make it so she doesn't feel it any more!

However; I also have another perplexing problem: Alyssa's hypersensitivity to cold sensation means she physically will not be able to even sit on a toilet seat! I've looked at getting child ones that fit inside the toilet, but they're still made of the same stuff and I've already tested out the theory of her sitting on it without tights on - but just on the top, because she does sit happily on there if we're in the bathroom (brushing her "teeth" lol) when she has clothes on. The result of the experiment was pretty much the reaction I'd predicted - with her screaming her head off that it was "cold" and begging me to get her off it! :-( I'm trying not to get too disheartened about stuff like this - it may not become an issue for a very long time if the surgery doesn't help with the gut pain anyway - and I still have New York and hopefully someone else who's perhaps been through this as well. Ok, definitely rambled on long enough ... it's time for bed! Night all x x x

Another week has just whizzed by ...

2009-09-23T20:59:00.003+01:00

without it seeming like that long since I posted! What absolute craziness it is here!

Alyssa's not had too much pain in the last week (bowel movements aside!) and has been on pretty good form this week! Yay! The crown on her upper molar seems to be doing the trick, because the current ulcerated area is showing signs of healing tissue again ... so hopefully that will continue. Seeing the dentist again tomorrow, so he should be pleased by the current state of the ulcerated patch.

Alyssa was supposed to be having her bed/cot assessed for a "sleep system" this morning, but unfortunately the woman coming could not make it. So she's rescheduled the appointment for the 21st October ... just days before we go to New York! The sleep system is specifically designed for each individual to keep them in a comfortable position while sleeping. Alyssa is essentially crippling herself - both during her "normal" postures throughout the day - and the positions she gets into at night. As she doesn't feel it, nothing is uncomfortable to her, and she lies in cringe-worthy positions! :-( Plus, her usual sleep position is with her feet and legs under her as if she was sitting up, but folded flat over them with her arms (and arm restraints) outstretched above her head. This cannot possibly be doing her tummy/digestive system any favours - to be squashed all night.

We're currently organising a fundraising "pub quiz" for Monday 5th October at the Forresters Arms, Cambusbarron, Stirling. We're collecting raffle prizes and quiz prizes at the moment, so hoping lots of people turn up ... or we'll be drinking wine for a long time to come! ;-) Prudential raised LOADS for us on Friday (total amount still to be confirmed, but estimated to be in the region of £2500!!!). Originally thought some of that was for other charities, fundraising events but have been told that this is not the case, and that it's all for Alyssa! So ... very grateful to everyone there who donated/bought cakes/bought raffle prizes etc.

Oh, and also trying frantically to narrow down the EXTENSIVE family that is my family tree, as have found someone in the US who is very possibly a relative ... and whose daughter has Pain Insensitivity too! That's just too huge for words, and has so many implications genetically. Would make it much more likely what was causing Alyssa's Pain Insensitivity, if we were related, because her daughter's condition has already been diagnosed. Will keep you posted on that front. Speaking of which ... better get back to it!

x x x

What a busy week ...

2009-09-16T16:50:00.002+01:00

Can't believe it's been 10 days since I posted already!!! Am running about like a headless chicken at the moment, with all the various things I have on the go at the moment and checking up on them all - as well as the "normal" stuff I have to get done each day with Alyssa!

Well, last week at the hospital we agreed that the Thalidomide was clearly helping the sweating and so therefore the itch as a result, plus being so sweaty clearly made her miserable and - as the anaesthetist couldn't think of anything else which would affect that so well ... without causing other problems or side effects. So the Thalidomide has been started again, and we'll look into other possibilities when I get back from the States. She's settling down again on it now, and sweating much less again so she's scratching less again. She has torn her chest open again unfortunately, but hopefully that will start to heal again now that she's back on it and not as sweaty/itchy.

Met Alyssa's actual dental consultant last week for the first time too (the one who replaced her previous consultant). He was really nice and clearly concerned about the amount of damage that she's caused to her inner cheek already. So he put more cement on the upper molar and has recommended that she have a crown fitted to that one tomorrow, and we can then monitor the situation. He's hoping that by doing this, she'll not only get to keep the tooth underneath but that it'll also be much more blunt and she should do less damage if she does bite herself. It's more rounded off than her actual teeth. The surgery Alyssa's having done will be in a couple of weeks, so that should give us an ideal amount of time to gauge the oral damage and - if nec - then the teeth will be removed at the same time.

I managed to raise enough money to book the flights to New York on Saturday, so that's the first step accomplished!! And think I almost have enough to book the budget hotel I've seen, which is pretty reasonable ... while still being in Manhattan! Then I just have the $2000 for the consult and testing being done, and the $1000 for the specialist Occupational Therapist that we're seeing ... but hopefully we'll manage in time! Still have just over 7 weeks to go, so fingers crossed!

Alyssa was measured for a special lycra bodysuit yesterday, which is aiming to correct her very poor posture and help stop her from crippling herself - which is essentially what she's doing at the moment. Because she's so hypermobile she doesn't hold herself like she should, and then because of the Pain Insensitivity and it not hurting, she doesn't correct herself. That should arrive in 3-4 weeks they told me, so will be interesting to see if it helps. Have to build up the time she's in it gradually, but will definitely be worth it in the end if it helps with her poor posture and lordosis.

Ok, think that's all for now. Will probably think of something else later and come back but it'll do for now! :-)

It's been a looooooong day!

2009-09-06T20:40:00.004+01:00

Had a lot of fun this morning! Realised last night (after our first fundraising car boot sale yesterday) that I've spent so much time and energy lately trying to organise ways to raise money, that I've hardly spent any quality time with Alyssa in the process! She stayed with her dad on Thursday night this week, and then with her gran on Friday night - to allow me to get up and organised to car boot sale early Saturday morning - and I couldn't believe how much I missed her! It's the first time she's ever been away from me that long, and it was really weird .... and not in a good way!

So ... I took her to our local soft play centre this am (Kidzworld) and we both had a great time, can't remember hearing her giggle so much as I did this morning as I chased her about and repeatedly caught her - just as she was falling over from laughing so hard and looking behind her, to see if I'd nearly caught up with her! Lol! An hour of that is unfortunately quite hard work with her extremely low muscle tone and hypermobility, so we were ready to go by then and she was already drifting off to sleep in the car by the time we were halfway home!

Annoyingly - and something I forgot to mention from Tuesday's update - is that we agreed to stop the latest drug trial (Thalidomide) because it really wasn't doing enough to warrant keeping her on it, with it's strict guidelines for administration etc. And - of course - within 2 days, she was scratching more .... but she also had a cold and resulting low-grade fever, so I was trying to put it down to that ....! However, the excessive sweating has now kicked back in so the Thalidomide is clearly getting out of her system now, and I've spent most of the day feeling like part of the WWF team in wrestling her to the ground at times just to stop her attacking the back of her head! *sigh* I'm not convinced it's actually the Thalidomide which stopped the itching as such ... but that because it reduced the excessive sweating, it in turn made her less itchy! I shall now have to update the specialists and see if there is something we could try to test this theory - ie putting her on something that will reduce her sweating, without attempting to touch the itching like the Thalidomide was meant to be doing - so we know for sure which is making her worse. I obviously don't want her on Thalidomide longterm if it's not having a significant improvement to her symptoms, although her symptoms are so many ..... it's hard to know what's best for her sometimes!

She's not been too bad today with respect to her guts, but am still having to help her pass motions using baby massage. She has also just automatically crying out for me to "help" as soon as she feels she needs to go, poor girl. It's just so much effort for her to do it by herself, not to mention the pain she feels at the time. Here's hoping this procedure which is now planned will be sooner rather than later! And with that in mind, I spoke to the anaesthetist on Thursday and we both agreed that it's sounding very much that this procedure will help resolve or at least reduce the pain she's in with bowel movements. It should also help reduce or eliminate the straining she always has to do, by reducing the pressure that builds up there. It's not clear (to me at least) if her rectal/anal passage is too narrow, or if the autonomic nerves used in that area are just not working as they should to aid defaecation but hopefully the procedure to stretch the anal area will still make her more comfortable. This procedure is mainly used now for children with chronic constipation, so fingers crossed.

The teeth are still an annoying factor, as I'm now fairly sure that the ulcerated area is now either bigger again or more damaged than it was on Tuesday. Alyssa is meant to be being reassessed in a couple of weeks from our visit but - as per usual - the dental team are so busy, that it's actually 4 weeks from our appointment last week. Presuming the operation goes ahead before that (as we're hoping it will) that leaves me in a difficult position. If I ask for someone to assess it on the day of the op, we may decide that the teeth need to be removed .... but they may not have a dental surgeon available then, but if I try to get her assessed before that it's a lot of hassle to actually get someone who knows what they're looking for ... AND someone who is actually able to make the decision to remove them - with my permission of course. Hmmm ... think I'll e-mail the specialists and ask if a dental reassessment could be made prior to the GA for the op and see what happens!

Ok, rambled long enough. Will update again as soon as I can. Life here is even more hectic than normal with all the fundraising organising going on!

How things are today ...

2009-09-01T23:00:00.003+01:00

It's been a pretty bad weekend as far as gut pain goes, and poor Alyssa's been complaining fairly constantly about her "sooo" (sore) tummy/bum. It's still causing her pain for up to 2-3 hours before a bowel movement and sometimes afterwards as well, if she hasn't passed enough. So ... pretty much most of her waking (and some of her non-waking) hours! *sigh* So much for Pain Insensitivity!

Saw the dentists today and we discussed the large ulcerated area on the inside of Alyssa's cheek. The other side which had a small area starting appears to have almost healed again, and the large one is looking slightly better than it was on Thursday. So we had yet another debate about her teeth. The dentist feels it has to be a joint decision (which I'm glad about, but it would obviously be easier if it wasn't MY decision in any way!) so we're going to leave things for now and have her seen again in another few weeks ... unless she decides not to wait that long! I just can't bring myself to remove them at the moment when - gut pain aside - she's eating so much better because she can actually chew most things now with them, and I really don't want her going backwards. Each time she has teeth, she learns to use them (which sounds really obvious, but it is a major thing for her ... she keeps learning to use teeth then has them removed and learns to use her gums alone ... then we start all over again!) ... and we go through the gagging/choking cycle again, because she's used to just shoving stuff in her mouth and leaving it up to the teeth to sort out - like she should be able to.

I am not as bothered by her chewing the insides of her cheeks as I am about her chewing her tongue ... that's not to say I'm NOT bothered by it! I just have to balance everything up - constantly! If this can be passed over as yet another "accident" .. or she's chewing them again because she's biting down due to the gut pain ... then I have to try to save them, because overall she's better with them. If she's going to continue to destroy the inside of her mouth with them, then the ulcerated areas will become infected and that will change. But the decision is harder to just say "get them out" when it's gradual like this. If I discover her - AT ANY POINT - chewing her tongue, then they shall be removed as soon as is absolutely possible! As awful as it sounds, it's easier to make such a drastic decision when the potential damage is just as drastic!

None of this is fair! :-(

I also caught up with the neurologist, but sadly the anaesthetist was held up in theatre (although it's his busiest day and I knew there was the possibility that would happen!) and we had a bit of a chat about what's going on with her gut pain. Thankfully (for once!) Alyssa actually demonstrated fairly well the level of pain she's in ... instead of just "dealing" with it like she usually does on hospital outings! Why do they do that?!?!

We discussed a procedure which would hopefully help Alyssa's pain on passing bowel movements and I shall discuss it in more detail once the anaesthetist manages to call me (he's off on a wednesday, so I'm guessing it will be Thursday now before we chat). It will require another GA but there's the possibility of that with her teeth anyway, and it's hardly anything really that new to us. She's had more of them in her 2 1/2 years than most people have had in a lifetime! It doesn't sound particularly pleasant ... but anything is better than 2 1/2 years of chronic excruciating pain. It would be so nice to think she could be knocked out in pain, and wake up feeling none for the first time (after recovery time, obviously) .... but I'm also thinking that it seems too good to be true after all this time. However, if it even made life a bit more bearable for us then it's definitely worth it. And - if the teeth need to come out - at least they could both be done at the same time, so one less GA.

Will know more after speaking to the anaesthetist .... and will update. Thank you to all of you who continue to read! x x x

Been a bit AWOL lately ....

2009-08-27T15:24:00.003+01:00

but have just been so busy, trying to organise some fundraising options. People have been really lovely and have donated lots of stuff for me to sell at a car boot sale, and I've been listing other stuff on ebay. It's pretty time-consuming but easier than having to travel about finding car boot sales - particularly with bigger stuff that sells better on ebay! Had a lot of Alyssa's baby stuff which was practically brand new (because she was constantly in and out of hospital and rarely used any of it!) so that is selling pretty successfully, and finished listing the main items last night .... well, very early this morning if I'm honest!

I have various collection/donation tubs dotted about here and there and would have more, but have run out! So am waiting to collect some more. The problem I have is that with all being different shapes and sizes, I have to keep recreating a poster that will fit on them ... and some are fairly hard to customise posters onto! Especially with all the information I need on them (being that it's so rare and people ALWAYS immediately think that "no pain" is a good thing!!! It's only once you start describing the biting injuries, the self-mutilation and (for most parents of children with Pain Insensitivity) the fractures that went un-noticed until found by accident, or only because the child couldn't use the limb affected!

Have also been a bit missing in action because Alyssa has been in a lot of pain with her guts again recently, and it's been increasing daily it seems like! Have been very confused because there's been nothing to link that to which is worrying, in case there's "something new" going on - insted of the "usual" gut pain! Even though we don't know what causes the usual gut pain, it's been suddenly so much more severe and with no change in medications that it's just thrown me a bit! But after resorting to going back to basics this morning and using baby massage, managed to help her pass a fairly big motion (sorry if TMI but is really unavoidable with Alyssa, because she's always got gut pain which is always much worse when she needs to go!) so she's been a bit happier since that. Hoping she'll settle down a bit again now, and maybe even go a bit more regularly with any luck. Also put the TSE intensity up slightly, in hopes that it was perhaps not having the same effect on her and she was adjusting to it .... but not sure that it made any difference. She's only been happier since the massage session this morning.

Also discovered (today!) that the inside of her left cheek is extremely ulcerated now :-( so - depending on what the dentists think next week - we could be about to undergo yet another GA and dental extractions. The inner right cheek has a very small ulcerated patch, but this looks to be just starting - insted of healing. Have just phoned the dentists and have an urgent appointment for reassessment on Tuesday ... so will be interested to see what they have to say this time. Will post here what is happening!

Plans for this weekend are to go to a car boot sale (fairly far away from us, because the one we used last weekend "to get a feel for it" was extremely disappointing and even the stuff being sold was shocking). Since been told that it's gone downhill since being moved from it's original placement, and hoping the one this weekend will be better. Assuming it is, then the plan will be to get all the stuff I have at the moment priced throughout the week and take it for our first car boot sale the following weekend. Watch this space!

Thanks to all of you who continue to read this, and also to those of you who have either donated goods or accepted collection tubs! Alyssa says "ta" as well! ;-)

Today was a good day!

2009-08-20T22:02:00.002+01:00

Went to the hospital today to have the bloods taken that her paediatrician had requested. When we arrived, it was pretty chaotic (it usually is in the kids ward!) but Alyssa was perfectly happy, playing with all the toys and chattering to - or refusing to, in some cases - all the nurses. Most couldn't believe it was the same little girl they were seeing, she's grown so much since they last saw her! Yay just for that! :-D
The nurse in charge asked if we still put EMLA (local anaesthetic) cream on Alyssa for bloods etc, and I said that there wasn't really much point - because with the Pain Insensitivity, she didn't feel it anyway. That nine times out of ten, they put it all over the "usual" places and we ended up having to get it out of her wrist .... which hadn't had cream applied to it anyway!

When the doctor was ready for Alyssa, we went into the room and were accompanied by a nurse who didn't know Alyssa. The doctor (whom was also new to us) asked if Alyssa had a diagnosis yet, and I explained that she still had no "official" diagnosis, but that she didn't feel external pain. He stopped in amazement and stared at me ... then said "so she's not going to feel this then?!?" and I replied that she wouldn't. I also explained about the previous injuries she's caused to herself, and that she'd had most of her teeth extracted. He was fascinated, as was the nurse - who also seemed very surprised.

It became a hilarious event once the doctor actually started! He put the cannula in Alyssa's hand ... and she was so fascinated, she kept trying to bend over practically on top of him to see what he was doing to her hand! Then offered him the other one .... to use as well!!! Heh! He was laughing and telling her that he may just need to use the other one, and thank you for the offer! And he did, once the first one stopped giving out any blood. She happily sat and watched him (by this point being partly restrained by me - to stop her bending over ONTO the cannula!) putting it in the other hand! The nurse was just completely shocked ... and Alyssa chattered away to them both the entire time! ;-)

I guess it's one thing to be told someone doesn't feel pain .... but it's quite another to witness the reality! Looks like there are actually some times when it's good not to feel pain! Still not ideal, but it's nice to have a little positive in the midst of everything else we have to deal with ... seems fair!

After that, we went to the canteen where Alyssa ate steak pie and veg ! And she had fish fingers, chips and green beans for dinner!!! Her appetite, and the variety of foods she's willing to eat has increased so much lately it's just amazing to see. Considering the fact that just over a year ago, she was being tube-fed, barely registering on the growth charts (and classed as FTT or Failure To Thrive for the unitiated!) and refusing almost ALL foods! It's been a hard year, and a lot of hard work ... but it's finally paying off. Everyone we met today was stunned by how much she's grown, and how well she looks! Yay again!

x x x

It's official ... we're going to New York!!! :-)

2009-08-15T20:38:00.002+01:00

I don't have an actual date yet, but conversed with the specialist there yesterday and she is very keen to see Alyssa - which was pretty much the only thing I needed to know - so I'm now planning my little head off to get us there. I still have to factor in the weather/temperature there, as well as what will actually suit the doctor (although so far, she's been nothing but extremely helpful so I don't think she'll mind!) and I need to raise some funds. So I'm trying to tackle this, the website and think of any and all ways to raise money at the same time.

I'm hoping not to have to do another sponsored run if possible (I'm sooooo not an outdoor girl when it comes to the rain, lol!) but if it's what will get me and my baby girl to New York, then so be it! I'm collecting all my/Alyssa's etc old but really good condition clothes, toys, books etc and storing them so I can either do some sort of coffee morning event or a car boot sale. I've also been given the brilliant idea of donation tubs by another girl whose poor child needs to travel to China to get much-needed treatment, and a very good friend from my childhood has just donated me some of her empty sweet tubs to start me off! Thanks Gemma, you rock! :-)

I'll hopefully be able to get a website link for sponsors to donate to as well, but am having a few issues with that - due to it not being a ready-made charity ... but where there's a will, there's a way ... and I'm nothing if not determined! I'm very excited about this (in case you can't tell) and a lot of my friends from the US who supported me - and vice versa - throughout my awful pregnancy, and the aftermath that became Alyssa's strange journey have already told me they're coming to meet me. These people are some of my best friends ... and we've never actually met in person!!! This is so huge, a 2 for 1 kind of deal!

Ok, need to get back to the website creation ... it's not as easy to do as this blog was! But it'll get there!

Thank you to all of you who have already offered to let me stay with you while in NY, and to those of you who are (still) trying to find me places to stay that will save me money! I love you all! x x x

Today's visit to the hospital ...

2009-08-12T21:57:00.002+01:00

was pretty good actually. Alyssa had Nerve Conduction Studies (NCS) done today because of the drug she's been trialling (can pretty much say now that it's Thalidomide, which is a drug that most people are shocked over ... but has amazing results when used correctly). It can cause a type of peripheral neuropathy and - because we already wonder if Alyssa has this anyway - we're not sure how we'd know in Alyssa. The usual symptoms are "intense burning pain" ... which Alyssa may or may not feel so the NCS studies the electrical signals that the nerves are giving and receiving. Unsurprisingly (and positively) her results today were normal, and despite me thinking that we were abandoning the Thalidomide trial today because after 6 weeks on it, it's still not helping - the neuro still wants to give it a chance. So, we're sticking with it for the time being and she'll have the NCS repeated in 2-3 months.

As per usual, he was delighted with Alyssa's progress since we last met and asked how I felt the TSE was doing. I advised him that I am pretty sure it's making a big difference. She's eating better, complaining about a "sore tum/bum" far less and doesn't have the constant "frown" she was beginning to wear all the time. She IS being a typical 2 year old now so some of that was hard to distinguish between what was her just being "normal" and what was her being miserable due to her condition. Alyssa is still complaining for quite a long time about going to the loo, and still having problems actually passing motions but she's relatively happy the rest of the time - which is still an improvement. Will ask the anaesthetist next time I have contact if we can attempt to reduce the Gabapentin again and see if she really is coping better now with the TSE ... and hopefully get her off the Gabapentin altogether.

Saw the dentist; who was very pleased to discover that Alyssa has not bitten herself or caused oral damage recently, and who is now very hopeful that Alyssa is now old enough to be a bit more aware of what she's doing ... so possibly may get to keep the molars after all. Told her that Alyssa has literally just started chewing her hands - in the usual places - but that she does stop if told to (and as she is wearing arm restraints overnight to stop her tearing her skin off, she is also unable to bite her fingers/hands then either, which is when she used to do it!). So we'll see, and hope that the worst of the biting is over and that she may get to keep these teeth. She is eating so much better now that she can just chew easily with them, compared to tiring herself out "gumming" everything hard. They have suggested going back to see them again in 3 months ... but sooner if nec, as usual.

Saw the dermatologist. Discussed that neither the Phenergan nor the Sinepin (the two newest drugs introduced to try and sedate her but also reduce the itching) did not seem to be having much if any effect on her. The derm has suggested trialling two different types of cream - not really designed for Alyssa's problems, but which may work in a roundabout way. Something else worth trying is always a good thing!

All in all, a good hospital day! Will have to wait a few days for one of the creams, and a couple of weeks for the other one but will post as I learn if/how well they help.

It's been a pretty good day!

2009-08-07T22:10:00.003+01:00

Had what I believe is a fairly "normal" day (ok, if you discount all the medications, 2 x 30 min sessions of TSE and the usual - for us - tearing of skin) for a SAHM! :-)

Took Alyssa to the Family Centre, did lots of housework then picked her back up and put her down for her 3 hour nap. Got her up, had dinner and then we played in the garden, and visited her nana! She was pretty sore tonight because she was a bit constipated again, but all-in-all it's been a pretty good day! Yay for the good days! Yesterday, we went back to the "shows" (she's been asking 10 times a day since we were there last!) and I also took my niece with us. They had a blast. It was a lovely sunny day, and we had a really good time, then both slept in the car for a bit. It's so sweet to see how Alyssa adores her big cousin, and vice versa!

Ordered the portable version of the Baby Wipes Warmer today - the Travel one, that comes with a car charger as well as the house charger ... so can use it at her changing station in the bedroom overnight if required as well as taking it with us on day-to-day places. That will be a big plus, the stationary one is already making a big difference to her life!! And she really doesn't want to be touched by any wipes that haven't been in a warmer now - which I guess is understandable considering she feels like they're hurting her when they're cold.

I've e-mailed various people this week to ask about possible ways to fund a trip to New York to see the specialist I'm hoping can help Alyssa - or at least finally give her an "official" diagnosis. We've been in contact with her for a couple of months now, but it's only now after reading her letter that I'm sure I need to get Alyssa there. But first I need to figure out the best time of year to visit - when it's not too hot or too cold - and also how to raise the money to have her treated if necessary when we get there! If it was Europe, then the NHS would automatically fund it, but because it's the USA it's not covered by the EEU rules. I believe a special request can be made to have treatment covered if none is available in the UK ... but am awaiting confirmation of exactly what can be / is available ... and if any special provisions are required. One of the people I've contacted is on holiday at the moment, so she will hopefully get back to me in a week or so ...

If I discover I have to raise the money, then I shall start looking back into various events like the sponsored run I did recently for the hospital that Alyssa attends frequently. I raised over £1300 which was awesome, and was really grateful to everyone who sponsored me - it was hard work, but my baby (and all the other children who benefitted from the things they buy for the hospital with it) is most definitely worth it. I shall just have to work a bit harder, and do more sponsored events ... and hope that the same (and hopefully other) lovely people will continue to sponsor us to get us there. I will even look into media attention if I find it is required! Those of you who know me know how much I hate any form of recording equipment! But - again - if it will help raise money for Alyssa, then I'll do it.

Today was the big conference at the NYU (New York University) Medical Center, which I'd originally hoped to be at - for all the parents of HSAN (Hereditary Sensory Autonomic Neuropathy) children - but couldn't because of the extreme heat there at this time of year. Most of my contacts were also unable to go this year, but one is and is taking her video camera. She is planning to record all the important segments of the day, so we will hopefully hear what transpired there ... and perhaps even get a copy of it.

Anyway, just checking in to let those of you who read this know that we've had a fairly good week this week. Here's to more of the same!

Oh, and Laurie - if you're reading this - I still haven't been able to contact you via the link you left me when you commented. PLEASE e-mail me so I may get your story! Thanks

Finally heard ....

2009-08-03T19:43:00.003+01:00

from the specialist in New York!!!

Received an e-mail from our geneticist with a scanned copy of the letter the specialist has sent (my copy is en-route) to say that - having studied all the information she has now been sent on Alyssa, she concurs that Alyssa most likely has one of the types of HSAN (Hereditary Sensory Autonomic Neuropathies). She thinks that HSAN II is a possibility, although mentions that there is some lack of agreement between her clinical positioning on HSAN II and other investigators' views. That the children she has seen have not had the genetic mutation that othe HSAN II patients have been found to have, and that she perhaps needs to class them differently.
Either this or a channelopathy is a possibility. Which is pretty much what our neurologist/geneticist were thinking - that it is either a channelopathy, or HSAN V. The NY specialist does not feel that Alyssa's clinical picture fits that of HSAN V ... so it's still in debate, but I feel much more positive now that she has had a chance to look through Alyssa's history in detail.

She ends the letter stating that "without direct examination and further genetic testing she is not sure how much she can offer at this point" ... which is completely understandable. Looks like I better really start trying to save for a trip to New York!!! There is already a conference scheduled for this week (Thurs 7th August) and I had been considering going to it, but with the heat in NY at this time of year, it was just an absolute no-no! But that doesn't rule it out completely for me, I just need to figure out what time of year WILL suit Alyssa and plan for a trip that suits Dr A too. Now to sort out funding ....!

Hoping to hear back from some of the others who are attending the conference on Thursday ... so will post once I know what has been learned from it.

How things are going ...

2009-08-02T23:48:00.004+01:00

Well, it's been a fairly good week (and not sure when I could last write that!) so am leaning towards thinking that perhaps the TSE is helping ... but not yet ready to say it definitely is. Don't get me wrong, she's still been cranky and telling me her tummy hurts, but not screaming in pain and definitely not crying so much that I've been frustratedly trying to get hold of the anaesthetist. So all in all, that's pretty positive! It can take up to two weeks to see the full benefit so I'll reserve full judgement until we've gotten to that point, but am pretty optimistic about her gut pain and the TSE.

The itching however, has not changed in the slightest and I am having to remind Alyssa constantly not to scratch. At times she actually seems unable to stop when I tell her to, which is not usual but at least when she is at her daycare placement, they are able to distract her easily.

She's had the first week where she was there for two mornings (the third was spent at the hospital getting the TSE machine) and she had a great time. She's eating better since starting there - the other kids eating at the same time definitely helps - and she's apparently a "good influence" on the other children. Lol! She's always tidying up the toys (not that I'm a neat freak or anything!) and they copy her, and she really loves jigsaws, books and puzzles ... which is rubbing off on the others too - creating a much more peaceful playtime! Which is nice to hear, and also that - although she asks for me every so often - she is easily distracted and isn't getting too upset now that I'm not there with her. When I left her the first time last week, her little face just looked heartbroken. She saw me and mum leaving ... and kept pointing to herself to go too, as if she didn't understand why she wasn't leaving as well! Poor girl, but she had fun after that, and was much better on Friday. Didn't want to come home once I returned to collect her! Well, not until she realised I was leaving again!

Saw her paediatrician again this week for a general review, and it went pretty well. We discussed her various medications and the TSE, and what I think is/isn't making a difference. Alyssa was pretty pale again (I'd noticed that again a few days previously, she was the same when she first started this drug trial although it cleared up after she adjusted) and after checking the insides of Alyssa's eyes, her paediatrician decided that they were pale too so it was best to just check her bloods. Things had run late that day, so we all decided it was easier to reschedule for the bloods to be taken, and should get notice of that shortly. She has previously had periods of being really pale, yet not anaemic so we're not that worried ... and she's still doing everything she was doing when she wasn't pale - no change or any other symptoms, so it's probably nothing. But best to check anyway.

Think that's all for now - told you, it has been a pretty good week!

Oh! I took her to "the shows" one evening this week, and she absolutely loved it - had a total blast! Charmed everyone (as per usual), to the point where she was getting free rides, lol! Then she gave the poor ride owner a heart attack as she watched him bolt the little car door from the outside .... and immediately opened it once the ride had started!!! I'm busy shouting at her to leave it alone, and the poor guy was rushing over to close it again! Hee, it's meant to be a safety bolt to stop kids just opening the door! And after him giving her a ride for free too! Poor bloke! He just looked at me in complete amazement and said "She's really bright, isn't she!?" and asked how old she was. I said "2 1/2 ... going on 90!" :-)

But it was SO nice to actually see her getting to do things like a "normal" child, and giggling her little head off. I just don't get to see that enough ... and can't wait to take her back again. She heard the ice cream van playing it's tune the following day and kept saying "shows, shows" ... Bless!

The part I forgot ...

2009-07-28T20:38:00.004+01:00

Heh! Haven't posted for a week, then two lots in two days! Me and my shocking memory! Forgot to tell you about the OT (Occupational Therapist) visit on Thursday.

She was really nice, more prepared for the mystery that is Alyssa than I expected although did say there were things she needed to get her head around. She's looking into getting a special seat for Alyssa to help keep her more upright and help with her posture, but says that - short of actually strapping her into something - she'll still need constantly reminded to sit up straight. Because of her hypermobility AND the pain insensivity, she can sit in the most cringeworthy of positions ... which is fine for now, but is going to end up causing longterm damage because her joints shouldn't be in the positions she can quite easily put them into. She is always hunched over, and needs reminded a zillion times a day to sit up properly (which she can!) but it doesn't last for very long and she forgets again. Hopefully, the new seating will at least be a small reminder for her.

I also asked the OT for practical advice regarding Alyssa overnight when unsupervised and the fact that I should really not be using the arm immobilisers, but am left with little choice if I expect to get any sleep at all! She suggested something called a Sleep System, originally designed for children with severe physical problems, and is basically a piece of board with specially-shaped foam attached which the child sleeps on/in. The foam is shaped to hold the child in place, and the child is strapped in/onto it. Perhaps I don't fully understand it yet (haven't seen any examples and am coming up with nothing when I try to search online) but it still sounds like physical restraint to me!?! But will know more when she is able to get back to me. Either way, Alyssa is being physically restrained to some extent and - whilst not ideal - it sounds like the Sleep System would help with both preventing her tearing at herself AND her overnight posture, which really is awful. The arm immobilisers are only stopping her tearing at herself at the moment.

I had intended to ask the OT for practical advice on Alyssa's heat/cold intolerance issues - particularly with bathing, but ended up just going over it briefly. The reason for this is because I had a brain wave last week! :-) Was pondering how Alyssa could tell me what temperature of bath was acceptable, considering she screams if it's too cold ... and now screams if it's too hot (it's never "just right" or even warm or cool). Decided someone had to make a digital bath thermometer instead of the useless baby ones where you can't actually tell what temperature the bath really is, found and bought one! It arrived on Tuesday and - just as I was about to use it - I remembered that she is also a factor too. If she is warmer on a particular day, then she reacts more to the coolness of the water (hence why we've rarely ever got the water temp right!) and realised that I could take her temperature first, then match it to the bath water. :-)

It worked perfectly!!! Yay!! She cried as soon as she was about to be lowered into the bath (as usual, covering her eyes and bracing herself for entering the water), then she was in it and slowly taking her hands off her eyes and looking at me in wonder. She didn't complain it was too hot or too cold, and even wanted to play with some of her toys!!! This is a major breakthrough for us. She'd gotten to the point that even the little foam letter she played with for a short while were reasons to freak out about ... because they would "float" towards her and touch her legs or arms. She'd then spend the entire bath trying frantically to push them away from her because they were always "cold." Poor girl. She's now really enjoying the bath for the first time in 2 1/2 years instead of just tolerating it! And so far, it's working. I just adjust the temperature slightly if her temp is up or down.

After seeing the difference this small thing made to her life, I finally gave in and purchased a Wipes Warmer. Had been trying not to do that as was really hoping she would desensitise to these types of reactions, but the more she seems to feel cold as painful, the more guilty I felt about not doing what I could to minimise it. She loves it!!! She wants to take them out constantly and use them, and keeps saying "nice ... bum" (they're nice on her bum!) ;-) Bless! The only problem I have now is that I don't have one at each changing station ... or a portable one. But I have looked into getting a portable one, and the company have sent me a link to a rechargeable one which can be charged in the car ... so that will be the next purchase no doubt! Should have just bought one a long time ago. Oh well, have one now!

She's also had the first session of TSE and tolerated it pretty well. She doesn't feel the actual TSE, but the wires which attach to the pads on her are just a little bit too tempting for a 2 year old and had to try to distract her for the 30 mins it was on. She did really well, and only had to be reminded a couple of times that we had to wait for the counter to reach 000 before she could get them "offffffff" like she kept saying! All in all, she was a little star!

A week's gone past already ...!

2009-07-28T12:40:00.002+01:00

Wow, it's been a week since I've been able to update! Can't believe that's passed so quickly, it's been yet another intense week!

So ... the plan to use something simple like peppermint water turned out to be extremely difficult to achieve! The peppermint water originally came in a made-up amount and as a concentrate but is now only available as a concentrate - by private prescription! Due to a tragic incident involving an infant dispensed the incorrect dosage of peppermint water, pharmacists are now not meant to make it up themselves - but to order an exact amount and strength from the suppliers. Which meant I had to run about trying to get someone to do a private prescription for me AND find me a dosage. Long story short (with lots of people involved!), I did eventually manage that last week, but as yet still do not have the actual peppermint water. I will receive a phone call from the pharmacy once it has been delivered. So much for something easy!

For the first time ever was able to leave Alyssa for a couple of hours at the family centre she goes to once a week. She paints, has stories read, plays with other children and (eventually) will go for outings with the wonderful girls who work there. She really enjoys it, although misses out a lot of the time due to her physical issues or her neverending appointments. Usually I have to stay as well because she gets so upset at me attempting to leave (so I go there, and sit in the foyer for the entire time ... and they bring her out every 10 mins to "show I'm still there") ;-) This week; she had a really sore tummy before we left so I expected her to be even worse than usual, but once we were there - and she realised her usual carer was back from sick leave - she was perfectly happy and in her element. I even L.E.F.T the building, did some shopping and came back!!! MAJOR PROGRESS!!! :-)

We also had a scheduled meeting to discuss Alyssa's placement there, and the frequency of her sessions. They initially offered her a wednesday morning slot because she is so unusual, they wanted to make sure they could provide undivided attention to her while they got to know her needs, and to allow her a "settling in" period. They feel they now know her well enough to be able to respond to the rest of her needs in a longer session, and hope that if offered 3 sessions per week that she'll make at least one a week. So - starting this week - she'll be going for 3 mornings a week, dependant on her health and her constantly changing medical commitments. Which will be good for us both ... if somewhat strange for me to get my head round! Not sure what I'll do with myself on these mornings!!!

Alyssa's exceptional paediatrician has been off doing her own research (again!) and - bizarrely, just as I was looking into it - came up with the suggestion of TENS (Transcutaneous Electrical Nerve Stimulation as something to look into with Alyssa. The anaesthetist advised us that TENS itself would not really be helpful for Alyssa because it works on the skin surface and causes a great deal of sensation, preventing the potential to apply much power. It works on a single nerve and is designed to be placed between "the pain and the brain" which would require putting the electrode on the back of Alyssa's neck ... which we already know she will not tolerate! She has refused to allow the application of any dressings etc to that area for more than a few minutes so it really wasn't an option. Plus,;we don't know what sensation she would feel from it and I wouldn't want to put something on that she may perceive as painful, irritant or anything else that may add to her misery.

However; he says that TSE (Transcutaneous Spinal Electroanalgesia) is something that could potentially be very helpful for her. It has been used with up to 80% effectiveness in patitents with chronic gut pain, and is used for a variety of pain types. It is effectively high-powered TENS but works slightly differently. It uses very high frequency electrical stimulation and at very rapid speeds, which allow for a much deeper penetration ... and - because of the frequency and speed - very little sensation (if any) is felt by the patient, allowing for much more power to be applied. TSE uses a single pair of electrodes, placed at either end of the spinal column and is very good for larger areas of pain, unlike TENS which is better for localised pain. TSE is estimated to be 10x the power of TENS and because the electrodes are placed over the spinal area, they intercept all types of pain signals from one singular place. The anaesthetist says it must be used religiously every 12 hours if we are to expect improvement in her, so I shall be starting it tonight. I have specific instructions regarding signal strength, length of time to be applied etc, so it will be interesting to see if any difference in her is noted.

After reading the online medical section, I noted that the majority of patients also had an increase in mood which is interesting. It is hard to know if that is due to them finally having some relief from their chronic pain (which would obviously make one feel better, and in a better mood!) or if the signals being sent to their nerves have some effect. Either way, I am hopeful that this will also happen in Alyssa - she deserves to be happy with all she suffers! The anaesthetist wants me to let him know how things are going, and says it should give Alyssa some relief from the gut pain .... and - with a bit of a miracle - it may help the itching as well.

I'll let you know ...! :-)

How things are now ...

2009-07-21T22:17:00.002+01:00

Well, thankfully there has been some progression of the constipation and she finally started going again on sunday (not in any regularity, but anything is better than nothing) and she has had some relief in periods - though is still straining a lot of the time. The anaesthetist was off yesterday so called me back today and we had a chat about the various potential problems Alyssa presents with:

The first being that none of the medications she is on should really cause constipation - yet almost everything seems to have that effect with Alyssa. Which obviously makes it more thought-evoking as to why she has this reaction, and what we can actually about it.

The second being that it is a catch 22 with the gabapentin:

If increased in dosage, she becomes constipated (even if only increased slightly) and strains even more than she is doing now - yet unproductively. She is then sore and needs paracetamol and/or ibuprofen on top ... but they do actually help with constipation pain, but it's not exactly ideal having to give all three.
If reduced in dosage, the "cramping" returns very quickly and she screams pretty much constantly. None of the normally prescribed painkillers help this, which is why she was put on the gabapentin in the first place.

And the third thing being that we don't really know enough about her neurophysiology (what's going on in her brain) to try other medications, or what side effects they're going to cause. That gabapentin is the safest of the medications we can try, so are pretty much stuck with it for the time being.

The anaesthetist doesn't want to change things if possible, because he has to take a kind of longer term look at Alyssa, and not alter her medications due to her seemingly constant change in symptom severity. Which I completely respect - the more medications we have to change, the more questions we end up with as to what helped or hindered the problem. Plus, we have no way to know how even drugs which have helped others will actually affect Alyssa, being that her nervous system doesn't react to most drugs like everyone else. I think he has a very balanced approach to it all (granted, he doesn't have to deal with it all every day ! - but he is very conscious of that fact), and in order to be helpful, he really has to maintain a certain degree of detachment. So he's suggested we try some simple alternatives - sort of going back to basics and a non-medical approach.

He's recommended I get some peppermint water ... and give Alyssa some before each meal. He says it's something that's been used for decades, but seems to work well and that it is used quite often after gut surgery etc. He thinks it will also reduce the amount of abdominal gas Alyssa has, which also makes her very comfortable. She strains even when trying to pass this, and is extremely distressed by it so the peppermint water is definitely worth a try. The anaesth is also puzzled by her need to "strain" when she has diarrhoea, constipation and from gas ... and is wondering if some of it isn't learned behaviour. I understand and respect his logic there, but personally do not feel she has learned it - unless he means simply from the point of view that she does not actually know how hard she has to push when she feels she needs the toilet (ie because she does not feel things normally), therefore has learned to strain to do either. She is constantly complaining her tum (or bum!) is sore when she is straining or passing a motion, but doesn't complain it's sore at any other time. She will actually tell me that she does not have a sore tummy if I ask at any other time, so I am sure it is painful when she says it is.

Have no idea if the peppermint water will do anything at all, but at least it's not another medication and shouldn't make her any worse. Time will tell if it helps ...

A delay in updating ...

2009-07-18T15:42:00.012+01:00

is due to the fact that both of us have been unwell. Alyssa's "cold" turned out to be some sort of bacterial infection that also caused her skin to erupt in a rash, and sore throat. Then I got the fever and had tonsillitis, so am pretty sure that - even though I had no skin reaction - it was the same infection. The doctor thought originally that Alyssa had impetigo when he examined her, but nobody we saw after him (including the nurses and doctors at the paed hospital) felt it looked like impetigo! Regardless, the antibiotics and cream he gave me started to clear it up immediately so it didn't really matter - just that she was getting better.
Interestingly, she seemed to be very aware of the sore throat! So learned something new from it. She opened her mouth wide quite happily on Tuesday morning for the dentists and - by that night - would not let me look in it, and was refusing to eat ... so missed some of her medications, including the one she is trialling as well as some to help the gut pain! The following morning she kept pointing to her throat and - when asked if it was sore - kept telling me "yes" so she did seem to be aware of pain there. She certainly always felt the pain of her acid reflux when she was younger, and screamed constantly because of the burning there.

Anyway, our week has been fairly intense. Saw the dentists Tuesday, they were happy that the ulceration has healed somewhat and happy to agree that should Alyssa start causing more damage, they will remove the teeth. The dentist we usually see is still hopeful that Alyssa will manage to hang onto these molars, but also aware that the damage she causes is disastrous - in a very short space of time. So she is hoping that we will at least get to wait until this newest molar has erupted fully, to save them having to dig into her gums to remove it. Then she will be able to have them all removed under one GA (hopefully her last for a while - she's already had 7!). So I shall be seen monthly - at my request - while we continue to monitor the situation, or sooner if she starts to traumatise again.

Also saw the dermatologist on Tuesday. Discussed with her that although the current drug trial does not seem to be working, at least it has proved that Alyssa does not scratch (or scratches less at any rate) when sedated, and is much happier. Happier than she has been in a very long time, sadly. Seeing her as happy as she was on the first few days of the drug trial, when feeling the sedatory side effects was wonderful and heartbreaking at exactly the same time! It was so nice to see my lovely, happy baby again - the one we used to know, even when she practically lived in hospital and was being tested for everything possible. And heartbreaking, because it showed us exactly how miserable she normally is! And that is just the saddest thing about all of this. Feeling "no pain" should make her a happy little individual ... but unfortunately she has bigger things to worry about!

The dermatologist decided we should try a change of medications and attempt to sedate her, and see what happens. She explained that you cannot get rid of "itching" without sedating - unlike with hay fever and other types of allergic reactions etc, because the brain needs a certain amount of sedatory effect to affect the itching feeling. So she prescribed me a sedating antihistamine to replace the one we are currently using, and a drug which is acutally an antidepressant medication but which works on the same area of the brain to cause sedation and - at the dose being used - should hopefully knock Alyssa out overnight and reduce the amount of damage she is able to do when she goes to bed.

Didn't manage to catch the anaesthetist while there and was reluctant to start either of these medications without checking with him first - in light of the current drug trial and the possible implications adding in new medications would have. Plus, really needed to discuss Alyssa's increasing gut pain and see if that should be changed first. He had the most horrendous day by the sounds of things, and phoned me at 7:30pm that night and we discussed the various medications Alyssa was off the gabapentin for her gut pain and onto something more effective, and that we should start weaning her off it. I then explained that the gut pain was absolutely excruciating and that up until we discovered the gabapentin (only in Jan this year!) she screamed constantly without it. That the itching was hell, but it didn't even register on the scale in comparison to the gut pain.

He said to wean her down slightly and start the new antihistamines etc, and see him again on Thursday. And that he would discuss Alyssa yet again with the neuro on Thurs morning, and get his opinion on what else was worth trying. Then I'd see them both on Thurs afternoon so we could all discuss what differences there were, if any.

Long story short, we decided to continue the drug trial for the time being - especially as there is no way to know how long it may take for it to have an effect, and Alyssa will have nerve conduction studies done in a month. If at that time, she is not significantly improved, the drug trial will be abandoned as another failure. Did point out that the gabapentin was now not controlling the gut pain but we discussed and debated so many things that it sort of got lost in transmission, and I came away without an alternative. We also discussed her apparent progression of Alyssa's reaction to heat and cold sensations and that it is seeming more and more obvious that she has altered sensation, as opposed to just pain insensitivity or indifference to pain. She does not react to things that most of us would feel as painful - yet overreacts to heat and cold stimuli as if they were absolute agony when in contact with her skin! (see the "Story so far ..." section for more details on that, which I have updated also today).

Today; her gut pain is awful, she is very constipated and has not passed much in days and the gabapentin is not doing anything for the pain. When she is this sore, she will not eat and then I cannot get the medications into her that are meant to help the pain - so it's a vicious circle! I phoned the paed hospital in the hope that the anaesthetist was in today, but sadly it was not his weekend on-call. So I ended up having to give her the gabapentin (when she finally allowed me to feed her some yoghurt) then paracetamol AND ibuprofen almost at the same time, and eventually they seemed to help and she settled down again for a while. Thankfully, she sleeps most of the afternoon anyway, so she wasn't really sore again until almost teatime ... by which point I was able to give her the same medications again - but a bit more spaced out. Hoping to continue like this (with the new sedatives on board too, which knock her out overnight) until Monday, when I can phone the anaesth again and ask for something to replace the gabapentin with.

We are hoping it will not come to this, but it is beginning to look like the only way to help ease her symptoms is to sedate her longer term. Not to actually knock her out all the time, but there would obviously be a longer part of the day where she would be asleep. Which is both sad and awful in equal measures for a 2 year old little girl, but being awake and so miserable you need to tear your own skin off and be in agony isn't exactly a great life either! She may as well sleep for a bit longer and be happier! Here's hoping it doesn't come to that ...

None of this is fair! :-(

Things are not going well ...

2009-07-13T15:26:00.004+01:00

I'm having a complete sense of humour failure at the moment. Alyssa's gut pain has been horrendous over the weekend - despite the increase (or maybe because of!) the gabapentin, and it has just caused her to strain more but produce nothing. Despite also using paracetamol on top, she's still been crying almost all weekend and complaining her tummy hurts (yes, I know all too well the irony ... because my child suffers from pain insensitivity!!!). It is extremely frustrating and verging on cruel that she should feel no pain in certain areas - to the point where she can mutilate herself because she does not realise she is injuring herself - yet have excruciating gut pain, which is extremely difficult to control! On top of that, she is now back to trying to tear herself apart - almost constantly - and has only not caused yet more self-mutilation because she has gone to bed with the arm splints on. The itching is now as bad as ever, and once again I cannot leave her unattended for even a few minutes or she is covered in blood!

And - just to add insult to injury - she now has the cold, so has a 39*C / 102*F fever and is even more miserable because of that, and scratching even more. She also does not seem to understand that none of this is MY fault, so she's now taking out her frustration on me as well, which just really sucks! I'm doing my absolute best to try and make her better - or as well as it's possible for her to be - I spend all my spare time researching what might help her, and she just takes it out on me because she wants me to help her! From a 2 year old's point of view, I should be making it all better ....! *sigh*

THIS IS NOT FAIR!!!!! I'VE HAD ENOUGH OF IT ALL!!!

Ok, pity party over! (well, enough to move on to focussing on the situation at hand!):

Phoned the anaesthetist this morning to discuss the possibility of getting a different medication to control her gut pain. Discovered he's actually off until tomorrow, so left a message with his secretary to let him know she's not any better at all on the increased dosage ... and that I'm also at that hospital tomorrow anyway so hopefully could catch up with him at some point. I'm seeing the dentist tomorrow to review her mouth situation (so far, no worse damage and the ulcer has healing tissue on top), and received an e-mail from the dermatologist late last night to say that if I am there in the afternoon, she will make a trip there to see us (Bless her, she's not normally there on a Tuesday but is willing to come there just to see Alyssa!) :-) so we'll be there for quite a while anyway.

I also plan to discuss the current drug trial and - even if the anaesthetist is not yet willing to admit defeat - plan to discuss what the next step is. It is now very obvious that in the last two drug trials, the sedatory side effect stops the itching (either a little or a lot, depending on the drug being used and how sedatory it is!) so - logically - I'm thinking that perhaps it's time to start trialling the sedatives, and see if we can find one that helps her! Preferably, something she won't just adjust to after a very short time and also not at a dosage that will knock her out completely! I spoke with Alyssa's paediatrician just before the current drug trial started, and she was also seeming to be thinking along those lines (and this was before the effects of this drug were so obvious - so we're on the same brain wave!) so hopefully the anaesthetist will have something in mind, or can look into that.

I personally am already of the opinion now that the drug has failed, but appreciate that the anaesthetist may not be ready to give up yet - as it's a new treatment option, the effects are so potentially varied and it may take longer to have effect. But I have seen a gradual increase of itching over the days since we started it and almost perfectly in sync with the sedation has worn off, the itching has increased. I am prepared to keep her on it if that is what he wishes, but only if we get a new plan of action in place. The main thing at the moment however, is to get the gut pain back under control. As awful as the chronic itching is, it is nothing to the excruciating gut pain she receives!!! And we only started focussing solely on trying to control the itch once we had the gut pain under control - because it was always the worst of her issues.

Will update again once been to the hospital tomorrow. Thank you all for continuing to read Alyssa's saga ... and putting up with my emotional rollercoaster!

x x x

So ....

2009-07-10T14:27:00.005+01:00

Saw the neuro and anaesth yest: was asked how I felt Alyssa was. Told them that I felt the itching was perhaps starting to come back, but that it was still really too early to tell. That she wasn't any worse ... which was my main objective, and the neuro agreed. After the carbamazepine experiment (which she reacted horribly to!) I was slightly worried she'd react the same way to this drug, but she was already back in hospital by this point with the carbamazepine and she's not got any new symptoms since starting it. The pallor has calmed down again since she's adjusted to the drug, and I now know that the fever and meltdowns were due to her fourth molar erupting. And also because her gut pain has been growing steadily worse again lately, and is now upsetting her a lot of the time. We agreed that it was worth continuing, and that - as this is a brand new treatment, and there's really no-one to compare her to - we really have no idea how long it may take to work ... of even IF it will work. We can only hope. The neuro pointed out that - again, because of her not reacting to anything painful externally - he will need to do nerve conduction studies every 2-3 months that she's on this drug, as it has the potential to cause peripheral neuropathy so she needs to be monitored for early signs. As she has had it done twice already and it's not invasive, that's not really a problem.

Seeing the dentists again on Tuesday, so can get their opinion on the molar situation. The deep ulcer she had is starting to heal again ... so she may get another little while with these teeth before we have to decide if we need to remove them again. But we'll see as this new one grows in and makes contact with the upper one.

The arm is finally healing! And she's more or less leaving it alone now (while covered with a bandage and the sleeve which is tied at both ends to stop her getting at the bandage!) ... so hopefully that will continue until it is fully healed.

However ......

Last night, we were up almost all night with Alyssa tearing at her neck and the back of her head. I had the night I worried I'd have when debating whether I should buy a video monitor or not, because I could see her at it constantly, and - of course - then I couldn't just sit there and ignore it. I knew if I did that, she'd have extensive damage and it would be a blood bath again when I got up. Told her repeatedly to stop scratching and tearing at herself, and carried on with this until about 4am when I couldn't keep my eyes open any longer. Finally resorted to putting the pedi wraps on her (arm immobilisers) so that we could both get some sleep. They're really getting too small now, so may need to buy some new ones - although was hoping not to have to use anything now! And normally she fights them constantly, and spends hours just trying to get them off (which she usually manages!) but last night she must have been as exhausted as I was, because she went to sleep with them on, and still had them on when she woke me up this morning.

Her tummy was very sore this morning also, and she kept pointing to her cheek and saying "cheeeee, cheeeee" at the point where the new molar is so she's definitely feeling the teething pain. Gave her some paracetamol, then phoned the anaesthetist for advice regarding the tummy pain. He initially seemed to think I immediately wanted to remove her from the new drug, but I explained that I really thought her guts were more of a problem at the moment than the itching. And that perhaps although the itching is starting up again, she's so frustrated by the gut pain that she's taking it out on her neck because she can get at it. So we're going to increase her gabapentin (and then everything else required to combat the automatic constipation!) and hope that this is just a minor blip in the treatment. He doesn't want to give up on this new drug after only a week, and I agree that we're not at the point of admitting it hasn't worked yet ... so we'll continue as we are for now, unless she gets much worse. He doesn't want to take her off the new drug for at least another 2 weeks, so we can be sure we at least trialled it properly. I agree with this, as long as the whole team are prepared for the fact that it may not work, and can admit defeat at that point. I also however, do not necessarily want her taken off it if it is still helping her mood, sweating and general happiness, unless they have another suggestion. It may not help the itch, but it's made her a bit happier up until now and has definitely reduced the sweating - without causing her to overheat - and that's a huge improvement.

I'm very tired today, having had almost no sleep last night so will probably not update again for another few days ...

Update since starting the new drug ...

2009-07-08T16:42:00.002+01:00

Well, we're now onto almost a week on the new drug and - as of Monday - the "old" behaviour started again ... with her having meltdowns almost constantly, crying on and off all day and complaining about generally everything. Wasn't sure if she was just having an "off" day or if that was her starting to adjust to the drug and it was no longer having the same effect. However, she has had a low-grade fever since returning from her dad's yesterday so am hopeful that it is simply that she has been brewing something which is causing the return of the meltdowns and misery.

I did notice that she was quite pale on Saturday - most noticeably, her lips - but the inside of her mouth was still quite pink then. On Sunday, the inside of her mouth was also pretty pale although she had coloured lips if she sat down for a length of time, the pallor was more noticeable if she was wandering about and playing. Phoned and left a message for the anaesthetist, just to let him know because he wasn't sure how this drug was going to affect her. He wasn't really expecting any side effects ... but there's no-one to compare her to, and it's a new treatment so he wants to be very careful. He returned my call yesterday to say that both he and the neuro would like to see her tomorrow (thurs) at the pain clinic. The neuro would like a baseline with which to compare any future recordings/test results to ... particularly as this drug can cause peripheral neuropathy - which is pretty ironic, considering it is some kind of neuropathy she has, we just haven't worked out which type yet.

She has no other symptoms than the pallor so I'm not really concerned about it, but wanted to make sure it was noted in case it leads to something else which is currently undetectable. I did read that this drug can cause neutropenia (low white blood cell count) so I'd like to make sure we've got all avenues covered. So seeing them both tomorrow again for a review.

Also finally seeing the Occupational Therapist (OT) for an initial assessment of Alyssa's many sensory issues - been on the waiting list since December ... so not exactly been quick. She has decided to pop in and observe Alyssa whilst in her physio class tomorrow morning ... and then come out to the house to see her. Will be interesting to see what she thinks after that then, as Alyssa pretty much screams from the second physio starts until the exercises are finished ... then wanders about quite happily waiting for the "fruit" snack to be served! She absolutely hates this physio class, and hates almost all of the exercises - compared to the initial class where she was starting to do most things herself by then anyway. This session is harder work for her and she is not impressed.

Ok, rambled on long enough ... will update again once seen the anaesthetist and neuro tomorrow, and the opinion of the OT on what Alyssa's issues are, and what we can do to help her.

Note to self really: Noticing more and more that Alyssa is over-reacting to temperatures now - both cold AND hot now. Things that are "warm" to everyone else are HOT to Alyssa ... and she is now almost as distressed with touching those things as she is with having to touch anything cold. Now obviously I am pleased she can sense temperature - because she is not likely to scald or burn herself etc - but it's really life-limiting when you can't handle anything that is not a perfectly lukewarm temperature!!!

Back again ...

2009-07-05T13:54:00.004+01:00

The hospital stay:

Ok, so home from the hospital again. Turns out the anaesthetist originally said 3-5 days because he thought the neuro would want to do some tests while Alyssa was in as well ... then discovered he (the neuro) only wanted to repeat the histamine flare skin challenge. So Alyssa only had to be in for the one night, and that was actually to teach me how to give her the medication ... and keep everyone else safe. The drug is potentially dangerous if not used safely, so we all need to know that it's being given and stored correctly.

The anaesthetist said that any improvement in the itching would be subtle, and it would be a few days before it would start to show so haven't really been too worried about noticing or not noticing a reduction in the itching. We discussed the potential severe side effects - which also will not be showing for about a couple of weeks on it - and what that means for Alyssa. It's most major side effect is that it can cause peripheral neuropathy (nerve damage in the extremities etc) and - to most people - this is felt as an "intense burning pain" or tingling/pins and needles sensation. As to how we'll know if Alyssa is feeling this will most likely depend on the the neuro repeating the nerve conduction studies, and then we'll take things from the results of those! As per usual, she cannot bear to do anything "normal" for us!

The dermatologist came up to see Alyssa while she was in the ward, and prescribed a new dressing for Alyssa's arm. One which will absorb the excess fluid a bit better than the dressings she's wearing currently. She was - as usual - disappointed to see the state of Alyssa's neck, although glad to hear that the chest wounds have now finally healed and that I am now only dealing with the "reduction of scar tissue" in that area.

The dentist also came up to examine the damage to Alyssa's mouth, because I requested an assessment for their records. The dentist we usually see (who is used to the damage and doesn't get shocked easily) wasn't available, so we saw another dentist. He had perhaps read Alyssa's notes but was still stunned when I explained about her condition, and the fact that the ulceration inside her cheek now is not much bigger than when I phoned last week ... but is very deep. He had a look in her mouth (bless, she's now showing off her "big mouth" when asked!) and was horrified. I told him that it still was not bleeding that much yet, and really just wanted him to note down what it currently looks like for when we see the other dentist again on the 14th. He thinks it is not necessary to remove her teeth at this particular moment but he said that he also felt that she was going to need them removed fairly soon!

How she is now:

Well; it's a bit too early to tell how it's affecting the itching, because it's also sedating her a bit, so she's a little bit sleepier than normal. This affects her itching as well as everything else. She definitely isn't scratching as much - but we won't know if this is actually a result of the drug or the sedation until she's showing no signs of sedation (or much less, she may always be a bit drowsier on it).

HOWEVER .... since THE FIRST DOSE, I've noticed a huge improvement in her mood! Lately, she has just been frowning, irritable, and having a complete emotional meltdown over absolutely everything (and usually something trivial!) which usually ends up in her screaming her head off. It has been exhausting - for both of us, but - although she has always been very sensitive and emotional, I wasn't sure if she was just getting worse because she was doing the "terrible twos" thing. Since the very first tablet she took as part of this trial she has been so much happier, and more contented than I can remember her being in a very long time. I have my sweet, happy and playful baby girl back ... one who laughs and doesn't get upset constantly over nothing!!! I am now having to hope that - as with the stuff posted above - this is not yet another "temporary" effect and that it will stay. I can't actually put into words what it means to see her like this again ... and am dreading it wearing off. Fingers (and everything else!) crossed!!!

Update ...

2009-07-01T14:29:00.004+01:00

Ok, so been off the radar for a bit. Just too much Alyssa-related stuff going on and trying to pack what I thought she might need for the weekend away - in view of the fact I had no idea how much/little she might chew her own mouth and bleed. Weekend was nice, although they were having a heatwave so it was too hot for her there and she was miserable a lot of the time. She sweats excessively in the heat so most of the time her clothes were soaked through, and at one point you could actually ring the water out from her vest!

Unfortunately, it's a bit of a catch 22 because she has to wear a layer of special material which clings to her body and puts pressure on her skin. This helps to reduce the itching sensation she feels .... but makes her overheat! Which in turn makes her sweat more. But if she goes without it, "normal" clothes make her tear at herself constantly and then she removes entire sections of skin. So it's a lesser of two evils! Here's hoping the drug trial is about to change all that, and she could be allowed the luxury of wearing clothes that every other little girl does. Of course, it won't help her "temperature sensation" issues, where she over-reacts to cold items coming into contact with her - and more recently - hot (warm!) sensations. Things like baths, baby wipes, rain, washing her hands, walking on any floor other than carpet with no socks on, getting in her car seat ... all are a major drama due to her excessive distress brought on by having to touch (with any part of her body, with her hands to a lesser degree) and she will have a complete meltdown if she has no choice.

But any improvement in her day-to-day life will be a welcome achievement! She could do with having a bit of an easier time of it ... as could I! It was suggested to me recently by the mum of another child with pain insensitivity (she has HSAN V) that I buy a baby video monitor - which is basically a baby monitor with a video screen, so you can watch your baby as well as hear them. I debated on that for a bit because when she is in her cot, is the only time I get to myself and get things done which need doing ... or SLEEP! And I worried that if I can see her scratching/tearing herself, instead of just assuming she was already asleep, that I would get even less sleep than I do now. But after she managed to get her arm dressing off while having a nap at her dads' house (so clearly, she was awake but not alerting him to it) I decided to just go ahead and see if it helps. It also has 2 way talkback, so I can see her attacking herself and just press a button and tell her to stop it. I won't have to actually go in to her room and disturb her, just remind her she's not to do it! Fingers crossed.

Last night was awful! :-( We were up almost all night, because her tummy was sore due to constipation again. She is drinking loads at the moment, but also sweating excessively so some will be lost through that - but it's also really warm for our area and she just can't tolerate hotter environments well. So spent most of it either just giving her cuddles which she wanted, or going in to give her water and trying not to freak out over how much blood there was on her mitts, running down her neck and all over her sheet! *sigh* Couldn't use the new video monitor last night as it had to be charged for 12-16 hours first! Hoping that tonight will be better ... and that once we're home from the hospital, perhaps she'll not be scratching as much ....!?!

Am not really getting my hopes up for this to be honest - we've been through so many drug trials which have all failed to have the desired result, or have actually made her other problems worse! So I can't afford to let myself get to the point where I think this is the one that's going to work, it's just too devastating when it isn't! I tend to sit more on the sidelines of "this would be fabulous if it worked but let's not just assume it's going to" ... because it's a way of stopping myself getting too depressed if it doesn't work. If it does, excellent!! Fingers AND toes crossed!

Ok, will be off the radar again for a bit from tomorrow. Still not completely sure what tomorrow will bring. The anaesthetist is only expecting us to be there until Friday teatime but I'm a tad more skeptical than that. But again, brilliant if she adjusts well to it and we can get home then! Will keep you all posted on our progress!

x x x x

Today ...

2009-06-24T21:30:00.002+01:00

Picked Alyssa up from her dad's house this morning to find her arm was all swollen, and seeping large amounts of serous fluid. Redressed it and took her to the family centre so she could play, because we've missed the last 2 weeks due to her being ill ... and phoned the hospital from there to see if Alyssa's arm could be assessed. Was told to take her up this afternoon when we were ready.

While at the family centre; the girls looking after Alyssa and the other children, got lunch ready and offered her scampi and chips. She did really well and took a few bites of scampi ... and then I realised that her mouth was bleeding. After a quick check to make sure she hadn't stabbed the inside of her mouth with her fork (she does that occasionally, because she jabs it in and doesn't feel it hitting the back of her mouth!) .. realised it was - unsurprisingly - her teeth chewing the inside of her cheek. She'd chewed her inner cheek surface by accident, while chewing the scampi. Had yet another feeling of deja vu, and got her ready to go home. Phoned and left a message for the dentist at the paediatric hospital and put Alyssa down for a much-needed nap. Being at the family centre and playing (or anywhere and playing) exhausts her very quickly and she needs to sleep for 3 hours most afternoons.

Dentist phoned and we debated the options - bearing in mind that we have LITERALLY just booked a long weekend to Blackpool (because things were going relatively well ... and we left it as last-minute as possible!) so we leave first thing Friday morning and I'm so scared she'll start biting her tongue once we get down there, and are in a hospital where no-one knows Alyssa, or her history! AND that Alyssa is going in to the paediatric hospital next week!!! After a lot of deliberating and the dentist going off to check with the dental consultant, we had to just agree to leave the situation still as a "gauge each day" scenario and take it as it comes. We shall hope (yet again!) that this was "another accident" caused by her chewing on her dinner and she suggested that I just offer Alyssa softer food from now until we come back on Monday. You'd think something like Friday to Monday would be the easiest thing in the world to achieve ... but not in the world of Alyssa! Obviously, if there is any worse damage overnight tonight or first thing in the morning, then I've just to starve her and phone them back - and she'll go in for an emergency GA tomorrow ... but the dentist herself won't be there, and I'd prefer her to be there for it as she's been present for all but the emergency incisor removal and tongue repair.

Got Alyssa up from her nap to discover - to my horror - that she hadn't slept as long as she should have (we were at mums' and not in her own bed) and she'd been at her arm again!! Took her downstairs where my mum and sister were shocked to see the amount of blood running down her arm. The swelling had gone down, because of the amount of fluid she'd drained from it while scratching at it. Cleaned her up and set off for the childrens ward. Spent the afternoon having her arm assessed by one of the nurses. We did wait for a doctor for a while, but the nurse ended up deciding that her arm needed to be dressed and that we couldn't wait any longer for the doctors to be free. She was really worried about Alyssa's - extensively burned - arm being exposed for the length of time we'd already waited, and didn't want it to become infected. So she dressed it as she would a "scalding injury" (which is essentially what it is - except it's been burned by friction, instead of boiling water) and put a lot of bandaging over it to absorb the exudate leaking from it. She also gave me lots of supplies and advice on changing it, as well as "adapting" a pair of eczema tights into a full arm covering, to try and keep Alyssa away from either end of the bandaged section.

Please keep everything crossed for me, that Alyssa will not chew or cause any more damage between now and Monday!!! If we can make it until then, it will be pretty easy to organise another GA if nec, and I will just see if she can be admitted a day or two early for the impending drug trial!

I am absolutely exhausted today. Think it's probably the last few days of constant wounds, worrying about her teeth coming through and today just having both at once! This would be one of the days when I just feel completely drained! :-( Hopefully, I'll be back to my normal "can cope with this" self soon, I'll need it for next week!

The Drug Trial ...

2009-06-23T18:35:00.005+01:00

We now have a definite date for the upcoming drug trial, to try and stop the chronic itching sensation which Alyssa has - and which causes her to remove entire sections of skin at a time! The date had been under debate because the anaesthetist had originally told me at our appointment that Alyssa would be admitted for 3-5 days - depending on how well (or badly) the trial went, so she would be admitted on a Monday ...

Then a letter arrived to say she was to be admitted on a Thurs and - taking the above information into account - I naturally presumed she would end up there over a weekend. Having checked with the anaesthetics secretary, I discovered that the anaesthetist himself would not be on-call that weekend and it would be "whoever happened to be on-call" that would end up treating Alyssa if things didn't go as planned (which they usually do!). I explained my concerns about it and the secretary assured me she'd check with the anaesthetist once he was back from holiday this week.

I received a phone call from her today to say that the anaesthetist has now informed her that Alyssa will only be admitted for ONE night!?! And that we will get home the following evening. I asked why he had originally told me it would be 3-5 days, and she was unable to tell me ... so I presume that after speaking to Alyssa's neurologist about the drug trial, he is happier that it will go very well. I certainly hope so! I am still a bit concerned - but obviously keen to trial it if there is any possibility that it will stop the chronic itching sensation she has - so have agreed to go ahead as planned. I am a bit frustrated that I have not yet spoken to him since his initial suggestion of the drug trial and had the chance to ask him my questions, but will be making sure that happens on the day - before actually starting it. I only know what the drug is because the neurologist told me, and it's a fairly controversial drug with fairly severe potential side effects ... but I have to weigh that up with the quality of life we currently have with Alyssa tearing her skin off ... and feeling that she has to because she's so uncomfortable.

But it's going to be Thurs 2nd July - Fri 3rd July (barring complications obviously!) which is next week, so not too much longer to wait. Please keep your fingers crossed that this is the thing that finally works for us! And - if not - that it doesn't make her current symptoms any worse, like all previous drug trials have!

On the "teeth" front, the ulceration in her mouth has stayed the same for now so next week isn't too long to wait now to see the dentists again. Here's hoping she'll not have too much more damage by then, and that they can reassess the situation then.