We've had a go on a trike!!

So we've made it to April!  And the rep from Tomcat Trikes was up last week, to assess Alyssa for one of their special needs trikes.  Alyssa was sooooo excited at the thought of (finally) being able to go on a bike/trike, like all of her friends already do (and lots of kids younger than her!)  :-(  She's never been able to actually go any of the trikes we've bought for her, because she just couldn't maintain the muscle strength needed to pedal them.  Not to mention, she needs postural support to keep her sitting on a lot of them, and a parent handle, to assist with steering!  AND BRAKING!  Alyssa has no danger perception.  If she falls/crashes into anything/lands badly etc, she doesn't feel a thing, because it doesn't hurt.  So she also has no learning curve, and cannot be allowed to just "get on with things, by herself" unfortunately.  Even if she didn't have such poor muscle strength, or fatigue easily.  


The rep brought out a trike that he felt was appropriate for Alyssa's height and ability, and she was a bit disappointed to discover that his "sampler" bike was blue.  However, she was perfectly happy again once we explained that this was just one for her to try!  And that if she was able to go it, we would be able to order her a custom-made PINK one!  ;-)  Alyssa was fitted into the bike, strapped in (using a strap across her chest, from 2 padded supports, to help keep her upright and sitting, while allowing her to strengthen her core and not just rely on the bike supports indefinitely), and the rep showed us how to work it.  In a matter of seconds, Alyssa was pedalling it round the car park!  :-O!!!  The rep then gave me the control handle and I was helping her pedal around!  It was absolutely amazing to watch, and Alyssa was so delighted!  Her SA was all emotional, seeing Alyssa manage to pedal a trike, and I was just stunned.  Alyssa was shouting "faster, faster!" and I actually ended up having to use the brake at one point, because she was going so fast!  I just couldn't believe how easily she could get it going, and decided there and then that we were definitely going ahead and getting her one!  


Picture of Alyssa, on the sampler trike:

This trike:


*  disassembles and reassembles in seconds (has a 2-piece frame system, ideal for the car!)
*  will be custom-made, specifically for Alyssa
*  has an average lifespan of about 4 - 5 years (ie grows with her)
*  is specially engineered for ease of pedalling, with the lightest touch
*  can be fitted with Carer Control and Carer braking features (Alyssa's will be!) 
*  is available in a range of colours ... including SPARKLE PINK!!!  ;-) 


More information can be found at www.tomcatuk.org/tomcat-trike if anyone is interested in learning more :-) 


Obviously, this trike doesn't come cheap!  So we'll be doing some more fundraising again shortly, so that we can get Alyssa pedalling!  


The eventual aim is to help build up her thigh muscles - and overall strength - without overtiring her, in a gradual process.  And pedalling is a perfect way for her to exercise without putting extra stress on her already stressed joints.  She is so hard on her joints because she doesn't feel pain (or how hard she's impacting surfaces) that she really needs a way to "work out" without increasing the risk her joints are already always at.  Swimming is the only other recommended activity she should take part in, but with her heightened sensitivity to temperatures, and contacting any surface with her bare skin, is very difficult to achieve!  The trike will hopefully be the way forward, and get her exercising like every other 5 year old :-) 

Can't believe how much time has passed ... so quickly!

Wow!  I can't believe it's March already, and I haven't updated the blog!  :-/  So much has (obviously) happened since I last posted - some good, some not so good - but overall, Alyssa is doing well.  "The L leg" is still being monitored, though the orthopaedists are fairly happy with it.  It's still a bit bowed, but she's also still a bit weak on it, and it is definitely still improving, so we're hoping it will continue to straighten out as she strengthens.  There were concerns at one point that it was very bowed and that this might lead to shortening of that leg, but the ortho was less concerned about it at our last check-up in January.  


In November, Alyssa had her first ever Caudal Nerve Block procedure performed - to try and relieve the internal nerve pain she does feel, rather excruciatingly - and (on the actual morning she was admitted for this) I discovered that her L foot was hugely swollen and purple!  :-O  I had been aware that she'd tripped whilst at her dad's house that weekend, but was a bit shocked at the bruising, because it had seemed fine after multiple checks of it.  The nurses who had just admitted her were stunned because they'd just witnessed her happily wandering about on it.  And it LOOKED like it might be broken, to us all!  They couldn't believe she wasn't bothered about it at all, and quickly ordered her a fully-enclosed cot to stay in after her GA, which we'd also been "debating" up until they'd witnessed this for themselves!  There was definitely no debate after they'd seen her foot, and realised she really DIDN'T FEEL PAIN!  There were yet more xrays ordered, this time of the foot.  I was told that there were no fractures (but was a bit skeptical this time round, after spending 10 weeks arguing about the other foot, earlier in the year!) and then her ortho consultant phoned me to say that he'd seen something in her foot that he hadn't seen for many years.  That she had a very rare thing called Kohler's disease (sounds worse than it actually is!) and basically had suffered some disruption to one of the bones in her foot, and it had died off.  This usually causes swelling and "pain," though obviously Alyssa was oblivious to that aspect, and that it does eventually grow back.  But the swelling could last months, so to just allow her to rest it and wear her boot-cast for a small period of time, then just let her build her exercise back up again.  

Because of the foot injury, I was a bit distracted, and didn't really pay attention to whether I thought the Caudal Nerve Block had actually worked or not (I was told to be prepared for it to take up to a couple of weeks to make any difference, and - by the time she finally had it done - she was almost screaming 24 hours a day with it).  Gradually, as the week progressed, I started to realise that she was falling asleep more easily, and screaming less through the night ... then also at naptime in the afternoons, and eventually the screaming stopped altogether, unless she was actually needing the loo.  Sadly, it didn't really affect that aspect, but just allowing her (and me) to get some sleep was a HUGE bonus.  In January, we discussed it's success, and agreed that we would just repeat it when it started to wear off, and that I would just call to arrange it when I felt that her symptoms were building again.  That time is literally just happening now, and she is booked in again for another CNB in a couple of weeks.  The anaesthetist had  hoped that it would last 6 months, but feels that, over time, the effects will lengthen.  And 4 months is definitely not bad, considering she was screaming almost round-the-clock by the time we got to November!  


December passed relatively smoothly, and we had a lovely Christmas and New Year, with lots of lovely prezzies from "Santa."  She did unfortunately tear her neck open again, after a sudden increase in itching over the holiday period, but nothing too major, and certainly nothing like we've dealt with before.  She also started obviously sweating more, and this probably contributed to the increased itching.  In January, I had  discussions with several of the specialists regarding the medications she was taking, and if any of them could be increased or altered, as I felt that the main one responsible for helping her itch reduction was no longer working as effectively.  After much research and checking, there was an alternative drug suggested, but pharmacy checking has found this to be ULTRA-expensive, and something which would require a special case to be written up, in order for her to receive it.  She probably would pass this easily, given her condition is so rare, but I don't feel that we're at that point yet.  The medication IS still working, it's just not working as well as it did initially, and - despite the potential damage this medication can also do - she is also MUCH better on it than she has ever been, when we've tried to withdraw her from it.  There may come a time when we do indeed have to apply a special case, and request the other drug, but we are just going to plod along for now, while things are still "ok" with her medicines and skin.


February made it much more obvious that something was not quite right with Alyssa, and she has been tiring more and more quickly lately.  In hindsight, I realised that this was also partially true in January also, it's just difficult to notice that she's "more" fatigued, when she fatigues so easily, most of the time.  But it got to ridiculous levels, were she was getting up from a nap (of 3-4 HOURS) and still complaining about how tired she was.  Or being up for an hour again, and either yawning her little head off, or actually falling asleep again in the car.  This is an ongoing process at the moment in that we still don't know entirely what's going on with her, but she's had a load of tests done, and redone, and it's looking like she's just had one infection after another lately, and her poor little body hasn't had time to recover properly.  As with everything which affects Alyssa, fatigue is the usual response to how she copes, and sleep is a necessity.  So we're not doing huge amounts of anything right now, just trying to let her rest, and recover.  And we're still ruling things out just now, so hopefully we'll either get some answers, or she'll just continue to improve again.  


Alyssa also TURNED 5!! in February!!!  She's getting a big girl!  :-) 

We're always being told to try and strengthen her muscles, but that's a difficult thing to do with a physically delayed child who genuinely fatigues with exercise (and non-exercise).  And - despite being now 5 years old - we've never actually managed to find a trike that she could successfully ride on - which the rheum feels would be the most helpful (next to swimming, and Alyssa obviously has multiple issues with swimming!) to Alyssa, because it would allow her to use her leg muscles, but without putting them in dangerous positions.  When she does any form of exercise, her lack of pain response to her joints being out of the "normal" range of motion, actually puts her in more danger of injuring herself.  She just wouldn't feel it if it happened!  And "overstretching" with Alyssa is a very real concern, due to both her hypermobility AND her pain insensitivity.  In people with hypermobility (previously termed "double jointedness" which is actually a misnomer), their joints can be stretched further than they should actually go, but this causes pain and the person will ache for some time and realise that they should not have allowed their joints so extend so far.  Alyssa never gets this warning, and will happily let her joints go wherever they let them, or worse, FORCE them to go into positions that SHE feels comfortable in.  Which again, is contradictory, because she doesn't really ever feel UNcomfortable.  She just knows that there are certain positions where she feels SOMETHING, so she will go out of her way to put her body in those positions, at the destruction of those very joints.  And she doesn't understand that she is doing any damage.  


Because of this, I have decided to get a custom-made special needs trike built for her, and I am looking into finding a company who will come to see Alyssa, and configure a trike which will do everything Alyssa (and I!) need it do.  I will be looking at various trikes over the next couple of months, as well as getting recommendations from others who have used similar companies.  And I am excited to announce that VALIDUS GYM is having a fundraiser, to help get Alyssa her new trike.  This is just overwhelming of them, and I am very grateful to them, as well as to all of the local businesses who are donating gifts, time, and services, as raffle prizes.  It is amazing how many people come together to get my special girl what she needs! We are very lucky people, who greatly appreciate it!  Thank you to everyone who is contributing, and to Validus Gym!  :-)  




  

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 ...

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 ...

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 ...

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 ....!

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!!!

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 ....

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 ...

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 ...

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

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!

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 ...

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 ...

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!).