Rare / Common

As we celebrate Rare Disease Day, I would like to bring attention to how rare disease research can help better understand more common conditions and how researching common conditions can help rare diseases. I will do that be using DRYK1A as an example.

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Not Horses, Not Zebras, A Unicorn?

When I think of my daughters 18 year diagnostic odyssey and the well-known saying that is shared in the rare disease community about what physicians are taught; “When you hear hoof beats, think horses, not zebras” thinking horses or zebras didn’t work for us when we heard hoof beats. The rare disease community needs physician to be aware of zebras when they hear hoof beats but what about unicorns they make hoof beat sounds too. Have you ever seen a unicorn?

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