The New York Trip .... part one!

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!

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