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

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