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.
Working with Leslie, Scott, and Sam’s aunt Audrey, who together had formed the Progeria Research Foundation, and building on decades of basic science, progress has been unusually rapid. We figured out that the DNA mutation results in a toxic protein (named progerin), developed animal models for progeria, and tested a possible drug that was originally designed to treat cancer, but had the right properties to reduce the amount of progerin. That fortuitous circumstance allowed the initiation of a clinical trial for progeria kids (including Sam), just four years after the discovery of the genetic cause.
In the fall of 2012, it was possible for Leslie and her team at the Dana-Farber Cancer Institute in Boston to report that this treatment had led to improved cardiovascular status for the kids receiving it. Sam was featured as the narrator of a recent television documentary, “Life According to Sam,” which premiered on HBO this fall, recounting the amazing story of this medical research adventure.
These advances also began to take on larger significance. From research in our lab and others, it became increasingly clear that the toxic progerin protein is also being made by each of us—just in smaller quantities and at a later stage of life. Sam and other kids with progeria were teaching us that normal aging is not just a running down of the body; aging is an active process, with progerin serving as a major player.
Meanwhile, Sam was growing up—a precocious kid with an aptitude for engineering, a talent for playing the drums, and a love of Boston sports teams. He was determined not to be defined by his diagnosis, or by his small stature and aged appearance. Barriers that might have seemed insurmountable to outside observers were never so to him. This straight-A student sought and won a place as a percussion section leader in the Foxboro (MA) High School’s marching band, even designing special equipment to make that possible. You can learn about all of Sam’s inventive strategies, and about his optimistic philosophy of life, by watching the TEDx MidAtlantic presentation he made just a few months ago.
When I was asked to speak at TEDMED 2012, I wanted to focus on the opportunity to translate the deluge of basic science discoveries about the genetic basis of disease into new treatments. But the topic needed a human face. So, I invited Sam to join me to tell his own story of how being part of clinical research had affected him. He skipped school that day to travel to the Kennedy Center in Washington, DC, and he was simply brilliant.
While the development of a treatment for progeria has been an amazing journey, and may have given Sam a few extra years of life, my heart aches today that we have lost him at far too young an age. Our journey is clearly far from over. More ideas about treatment are in the works. My lab and I are committed to continue the struggle in Sam’s memory.
But beyond the ways in which Sam inspired all of us to seek answers in research, he also taught us to cherish every day as a gift. In the rush of deadlines and challenges that make up today’s world, I confess that I don’t always succeed at that. But those exhortations will come back to me each time I look at Sam’s handprint on that plate—and I will be thankful for the privilege of having known this remarkable young man.
Medical research has lost one of its wisest and most endearing voices. Good night, sweet prince. You remain alive in our hearts.
Links:
Progeria, PubMedHealth, NIH
Collins Group, Genome Technology Branch, National Human Genome Research Institute, NIH