We have NEWS!!!!! :D

Ok, so - once again - it's been an age since I last posted (trials of life, with an Alyssa!).  Her spinal wound has healed well, and she's left it alone since.  She's been back to the spinal specialist and although she still doesn't have the all-clear to go back on trampolines, soft play or gymnastics etc (she'll need to be x-rayed in another few months first, because the actual fusion process takes around a year), he was really pleased with how she was doing, and that she's been leaving her wound alone!  I can also state with delight that we managed to save the new adult tooth, after getting to our last resort of having it burred down and complely reshaped, whilst she was under anaesthetic.  We had no idea if it would work or not, but her fabulous dentist felt it was worth trying to shape it into more of a blunt smooth arc, than a straight-edged tooth in the hope that her tongue would still slide over it, but  just glide, instead of lacerating her tongue any further.  Fortunately, it was successful, and now gives us a more optimistic future for her next adult teeth.  When she has enough teeth in her mouth, the dentist can make her a mouth guard, to further protect her teeth.  She just doesn't have enough at the moment, for anything to stay on.

But.  Most exciting thing of all!   WE FINALLY HAVE A CAUSE FOR ALYSSA'S PAIN INSENSITIVITY!!!!!  And - at this point in time - she is one of only 3 people known to have this condition!  

After years of genetic testing, neurological exams (not to mention everyone else we've had to see along the way, a lot of whom we still see!), the genetics team in Cambridge finally came up with an answer to Alyssa's lack of pain.  They came across a reference made about a little girl in Germany who had similar symptoms to Alyssa, and that this little girl had been found to have a mutation in gene SCN11A .... matching one found in a little boy from Sweden ... who also had similar symptoms to Alyssa.  They tested her for the same mutation, and discovered that SHE HAS IT TOO!  This was pretty mindblowing news to us.  Even more shocking was me finding the Swedish family - completely by accident - and discovering that our children have so many similarities.  After all this time, there were so many "Alyssa-isms" that we always just assumed were just that:  things specific to her.  And that there would never be a linkage to anyone else, because she just wasn't the same as anybody else - even with the others we know, who don't feel pain.  Then suddenly discovering that there is, in fact, a little boy who has almost exactly the same issues.  And parents, who have gone through exactly what I have, and who are still adapting almost every aspect of their lives to accommodate a child with such specific and unique challenges!  I could have cried when I first chatted with his dad!  It was just so surreal, to hear someone else ... essentially 'being' me!  Amazing stuff, and one of the few high points of 2013, which I'm very glad is over!  

Finding this mutation is also a huge deal to the researchers because they've also found out that it works in a completely different way to other mutations that painless individuals can have!  As newer medications are being sought to control chronic pain, more and more studies are taking place to try and find a better method of reducing it in those individuals who are currently left suffering from it.  It's given them a whole new insight into how that part of the nervous system works, and a new direction on which to focus.  So children like Alyssa are potentiallly the key to helping those who are in debilitating pain.  I'll never be able to say that I'm happy she can give answers, because her poor body has to suffer so much, for that information.  But I guess if she has to suffer it anyway, then some good needs to come out of it.  It's only fair.  And - hopefully - in the next 5 to 10 years, they will also be able to find a way to reverse the process in Alyssa.  So SHE can benefit from the research as well.  As well as any others we may find, with the same mutation, along the way  :) x

ETA:  We also made it through our first EVER Christmas/New Year holiday period, without a hospital admission!  Woohoo!  :D