The biggest risk in the rare disease community is not trying something. It is running out of time before something is tried.

The biggest risk in the rare disease community is not trying something. It is running out of time before something is tried.

Twenty-one years ago, I sang at my cousin Samantha’s funeral, witnessing firsthand the final stage of Sanfilippo syndrome: death. 

Standing in front of a church filled with people who loved my cousin for her eleven short years of life, I was struck by the devastation that Sanfilippo syndrome left in its wake. From the time she was a toddler, I watched Sanfilippo syndrome silently take from Samantha— stealing her words, her balance, her smile, her laughter, her ability to swallow, until there was nothing left to take. 

Twenty years later, I am watching the same disease move through my daughter Lottie in the same order, on the same schedule, with no approved treatment to slow it down.

In some ways, Lottie's timing should be better — there is more research and more therapies in development than when Samantha was alive. But Lottie also has Down syndrome, which bars her from most clinical trials. She is living in the era of potential treatments and cannot access any of them. This is why the........

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