Friday, February 28, 2014

Unique and Rare! Rare Disease Day 2014

Today is Rare Disease Day.  See more here---

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 – don’t get between a mom and a piece of information she needs to make a decision about the health of her child.