Saturday, February 21, 2015

I'm rarely stunned, but the last 24 hours have been a bit of a blur. Yesterday, I had the pleasure of speaking with Michele and learning about her son David. They live in Australia and we met thanks to a birthday message posted on Facebook.

This is a special occasion, because David and Maya share extremely similar genotypes/phenotypes.  In layman's terms, they have the same version of this disease.  The doctors still need to confirm everything, but its a match.  David is our patient #2.

What does this mean?  It means that Maya's community has grown by 100%. We've known that others are out there, but now we have confirmation.  We have a voice, a face and person.  We have an opportunity to share information, research and histories.  Most importantly, we have a better opportunity to help Maya, David and the broader community dealing with this horrible disease.  This is our opportunity to inspire the doctors and researchers to push harder.  It is an opportunity to say to another family that they are not alone.


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