Rare Disease Day: Think Zebras

Yesterday was February 29, the rarest of all Rare Disease Days.

I was lucky enough to actually be there in person at the NIH (yep, another day at the Clinical Center!) for the first time.   

The sessions started off with a crazy-proud moment when Dr. Francis Collins mentioned the Moebius syndrome research study I just participated in during his opening remarks! It was pretty amazing that he remains interested enough in Moebius to highlight it in this venue! I felt like the work I do for the Moebius Syndrome Foundation helps just a little with getting things like this research funded and getting researchers interested in us.

The following speakers ranged from the Office of Rare Disorders to non-profits such as NORD and GlobalGenes to The Mighty -which incidentally also did another shout-out to Moebius syndrome as a condition they have featured (thanks in part to me and a few other people in our community!)


 
An ongoing theme throughout the day is one that I think is so applicable both to diagnosing and living with rare disorders:

When you hear hoofbeats, think zebras.

I love this because it is so true. We are unique. We are varied and complicated. But we’re also familiar.  

After our sessions at the NIH we left Building 10 for the last time(!!) and took a shuttle to DC and the reception and screening.

    
We took the Metro back to our last night at the Safra Family Lodge.  

 

 

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