I thought I would have to teach my daughter about the world; turns out I have to teach the world about her. They see a girl who doesn't speak,
I see a miracle who doesn't need words.

Monday, May 16, 2011

Still No Diagnosis

Another bummer.  A few weeks ago I took Alex down to MCV and had blood drawn.  The geneticist said that back in 2002 the methalaytion study on her 15th chromosome showed a variance.  She wanted to run further tests because the testing has come so far and this new test would tell us if in fact there was a variance and to what degree - which would have finally given us an actual diagnosis of Angelman Syndrome - not just a clinical one.  Tests are back and it was negative.  It's really a bitter sweet thing.  How do I WANT her test to be positive, but not want anything to be wrong with her?!?  I just want a diagnosis so I can close that chapter and stop worrying/wondering if we are doing everything we can to give her the best life possible.  They are going to run a UBE3A analysis on her again (another test for Angelman Syndrome), but I'm not getting my hopes up.

I'm trying not to let the events of the past few weeks get to me, but boy is it hard.  Things with Alex had really been status quo for the past few years - just the way I like it!  Then all of a sudden we are back to testing, seizures, Dr. appointments left and right, yadda yadda yadda.  I feel like I'm thrown back to when she was just a few months old and we were all of a sudden on this journey and I am SO not prepared for all of the emotions this trip down memory lane is bringing me.

1 comment:

Christy said...

Donna - I'm sorry. I wish I could help you with all this. Just know that I will gladly listen to you whenever you need it. No matter what! Even when you're feeling crappy - you're still funny and make me laugh. I see drinks and guacamole in our future.

xoxo-Christy