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:
