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.
I’d like to take this opportunity to pay tribute to just a few of the many “good people” that the rare disease community has benefitted from. The first is Steve Groft, Pharm.D., who retired from his position as director of NIH’s Office of Rare Disease Research earlier this month. A dedicated and compassionate public servant for more than four decades, Groft leaves a profound legacy of advancing rare disease research and improving the lives of patients with these conditions.
Also retiring soon are two of the strongest voices in Congress for rare disease research. A longtime champion for the rare disease community, Rep. Henry Waxman of California served as the lead sponsor of the landmark Orphan Drug Act of 1983, which gave companies incentives to develop drugs for rare diseases they had previously ignored. On the Senate side, Sen. Tom Harkin of Iowa is retiring; over more than two decades, he vigorously supported NIH’s efforts to mobilize research aimed at developing innovative therapies and cures for rare diseases.
However, the most heartbreaking losses over the past year have been the thousands of people, many of them children, who died far too early of rare diseases for which we still have no good treatments or cures. Among them was my good friend Sam Berns of Foxboro, MA, a teenager with progeria who showed us all how to live life to the fullest, even in difficult circumstances. If you haven’t already, I urge you to learn more about the example set by this amazing young man and his family.
Sam’s parents, Scott Berns and Leslie Gordon, along with his aunt Audrey, founded the Progeria Research Foundation, which is one of the many outstanding examples of advocacy groups devoted to working with researchers to find answers and treatments for rare diseases. I think Sam captured the philosophy of the rare disease community perfectly in his remarks at last fall’s TEDxMidAtlantic: “Being brave isn’t supposed to be easy, but for me, it is the key way to keep moving forward.”
Thank you, Sam! And, on that note of gratitude and shared purpose, let me leave you with these lyrics:
All the Good People
Chorus: This is a song for all the good people
All the good people who are part of this family
This is a song for all the good people
We’re joined together by this common thread
This is a song for all of those families
Who’re looking for answers to come your way
It’s here you’ll find others, new sisters and brothers,
Who share in the hope for a brighter day.
This is a song for researchers and doctors
Who study the causes, whose dreams are quite real
When all of this learning and all this discerning
Can answer the yearning and help us to heal.
This is a song for those who have struggled
Your strength and your spirit have touched one and all
It’s your dedication that’s our inspiration
Because of your courage, you help us stand tall.
So let’s celebrate this inspiring alliance
You urge on the science, your message is strong,
It’s your exhortation that yields transformation,
So let’s stand together and join in this song.
All The Good People performance on YouTube
Office of Rare Diseases Research. (National Center for Advancing Translational Sciences [NCATS], NIH)
Steve Groft Retirement. (NCATS, NIH)
Moebius syndrome. (National Library of Medicine [NLM], NIH)
Hutchinson-Gilford progeria syndrome. (NLM, NIH)