Today is Rare Disease Day. See more here---http://globalgenes.org/
Alexis is so rare, she's unique. She just turned eight. Alexis has had 6 different geneticists do genetic work-ups (including testing at Tufts, Boston Children’s, CHOP = Not CdL or SLO, Baylor = Not CHARGE, MGH, Duke University = no Exome abnormalities, Genome still in progress).
The great thing about kids - they each are unique. So the best thing about Alexis, she's just that - Unique. Rare and Unique, genetically undiagnosed.
But full of giggles, smiles and joy of life. I'll take it!
I loved this blog post this morning from my friend Susannah Fox from Pew Research, especially this quote - that I'm embellishing a bit here for emphasis:
1 comment:
I just came across this blog post. I wonder if you are aware of SWAN USA. Which is focused on the undiagnosed. www.swanusa.org My daughter was is still undiagnosed some of the same syndromes were suspected and ruled out.
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