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Rare Disease Day: We’re Joined Together by This Common Thread

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Rare Disease Day Logo

Watch my Rare Disease Day song on video!

Tomorrow, the National Institutes of Health (NIH) will mark the seventh annual Rare Disease Day. As part of that gathering, I’d like to share this amateur video. What you’ll hear is an adaptation of a song I once heard sung at a folk festival, but I’ve changed the words. I’m now dedicating this to all of the good people whose lives have been touched by rare diseases.

While the spur-of-the-moment camerawork leaves something to be desired, I love the spirit of this video. It was shot at a gathering of the Moebius Syndrome Foundation in Philadelphia in July 2012. Moebius syndrome is a rare neurological condition, present from birth, that primarily affects the muscles controlling facial expression and eye movement. However, if you watch the video all the way to the end, or read the lyrics at the bottom of this post, I think you’ll find that this song strikes a chord for all such rare conditions.

In the United States, rare diseases are defined as conditions that affect fewer than 200,000 people. That doesn’t sound like a lot. However, when you consider that more than 6,500 conditions fall into this category, rare diseases are a challenge collectively faced by as many as 25 million Americans.


In Memory of Sam Berns

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Man, boy, and a puppet

Sam Berns (center) with Cookie Monster and me at TEDMED 2012.

This weekend, in a heartbreaking phone call from his parents, I learned of the death of Sam Berns, a courageous young man with Hutchinson-Gilford Progeria Syndrome. Sam may have only lived 17 years, but in his short life he taught the rest of us a lot about how to live.

Sam’s parents, Scott Berns and Leslie Gordon, both physicians, introduced me to Sam more than a decade ago. At that time, no one knew the cause of this extremely rare disease that causes children to age at a dramatically accelerated pace, leading to death from heart attack or stroke at the average age of 13.

Initially, I sought to provide them with some advice about how to encourage more research on progeria, but before long my own research lab began working on the problem—and 10 years ago, working with Leslie, we found the cause: a single letter misspelling of the DNA code in a highly vulnerable place in the genome. Almost all children with progeria had that same exact glitch.