Eating a Little Bit of Crow!

In a recent blog post about genetic testing (here's the link) - I was a bit upset with the new geneticist and his approach to the testing I wanted done for Alex.  And in that post I made a comment about waiting by the phone for the doctor to call me (clearly indicating I knew that wasn't going to happen).  Well, I have to eat my words because about 2 weeks ago there was a message on my phone - from that doctor's office.

He still isn't prepared to do the testing that I initially wanted, but he did say that he had gone back and was reviewing all of the information he had on Alex (hate to admit that impressed me a bit considering it was weeks after we had the appointment) and that while ALL (because there have been MANY) of Alex's Angelman and Rett Syndrome testing had all been normal - he strongly felt that Alex should have the atypical testing done for both syndromes.  Typical Angelman and Rett Syndrome are mutations on the 15th chromosome - tons of tests have been conducted on Alex's 15th chromosome because it was first thought that she had Prader-Willi Syndrome, then Rett Syndrome, then Angelman Syndrome.  Ironically enough, all three of those syndromes derive from the 15th chromosome (just different quadrants on that chromosome). 

I have a lot more to blog about recent events that will maybe tie a bit of this together, however, we are anxiously awaiting the lab slips and insurance green lights to have the atypical testing done - specifically the atypical Rett Syndrome (which, given Alex's hand movements is what almost every doctor she has seen has first thought to believe that is what she has).  Atypical Rett Syndrome - specifically the congenital variant (http://omim.org/entry/613454) - which fits Alex to a T - is on the 14th chromosome and does not impact the MECP2 gene like typical Rett Syndrome, rather the FOX1 gene.

 

It's very odd to switch gears at the moment from a clinical diagnosis of Angelman Syndrome to Rett Syndrome because we have been in the Angelman world since Alex was three.  However, the more research I do on the congenital variant, and the questions that a new specialist is asking, it's hard not to get a bit excited (only special needs parents can probably read that 'excited' in the crazy context I mean it!) to feel like we could potentially be on to an actual diagnosis.  It is SO incredibly hard not having a definitive diagnosis -  or prognosis for that matter.  It's funny when I think back and try to put things into context - 10 years ago this research I am doing would have devastated me, now I would be so happy to just know.  I can't imagine life without Alex - or life without her being the way that she is actually - she has made me the person I am today, she has made our family what it is and I couldn't have more of a deeper love for her if I tried.  The diagnosis wont change a thing, it will only help us understand things a little better and help us take comfort that we are doing everything in our power to give her the very best life possible.