Sam Berns, at age 17, stands in front of some of his Lego creations.
PHOTOGRAPH COURTESY HBO
PUBLISHED JANUARY 14, 2014
Sam Berns’s life was improbable. He was born withprogeria, a disease of rapid premature aging that only about 250 children worldwide are known to have.
Even more improbable: Both his parents were pediatricians, well-placed in the medical mecca of Boston and hell-bent on finding answers to their son’s condition.
“The key word here is ‘improbability,'” says John Seng, a member of theProgeria Research Foundation‘s board. “[Perhaps] one out of four million children are born with this disease, but he was spot on, born to Leslie Gordon and Scott Berns.”
Sam died last Friday at the age of 17—an unusually long life considering that most progeria patients die at an average age of 13. Before he died, he built entire Lego towns, earned middle-school awards, played in his high-school marching band, went to the prom, and dreamed of going to MIT in hopes of becoming an inventor, according to the HBO documentary Life According to Sam.
He also became the face of a disease that virtually no one understood when he was diagnosed. Today people all over the world can recognize the classic look of a child with progeria: narrow, wrinkled face; baldness, including lack of eyebrows and eyelashes; short stature; small jaw.
“Pediatricians in some of the most remote areas of South America have called to say they’ve seen these characteristics in children,” says Seng. Children around the world who were once a complete mystery to parents and physicians are receiving an accurate diagnosis.
Children with progeria suffer from conditions typically seen in much older patients, including hip dislocation and stiff joints. But progeria proves fatal because premature aging results in severe, progressive cardiovascular disease that leads to premature heart attacks or strokes.
Sam Berns was one of 28 children who participated in a research trial conducted by the Progeria Research Foundation, which his parents founded. That research has paved the way for the first ever treatment, though additional clinical trials are needed for approval by the U.S. Food and Drug Administration.
In Sam’s lifetime, the National Human Genome Research Institute, working with researchers from the Progeria Research Foundation, discovered in 2003 that the disease is caused by a tiny mutation in a single gene known as lamin A, which destabilizes the cell’s nuclear membrane in ways that harm the cardiovascular, skeletal, and muscular systems.
Francis Collins, director of the National Institutes of Health and discoverer of the gene, says the finding not only helps children and families struggling with the rare disease, but can also offer insights into normal aging and cardiovascular disease. All humans have progerin, the protein that causes progeria. But healthy people make much less of the protein than those with the disease do. In those without progeria, progerin accumulates over a lifetime—so unlocking its secrets could lead to a better understanding of normal aging.
Sam Berns appeared healthy when he was born. But within a year, his parents suspected something was wrong. He was diagnosed at 22 months. Today, because of the genetic discoveries, a definitive diagnostic test leads to earlier diagnosis.
There are still no anti-progeria drugs approved by the FDA, or treatment outside of clinical trials. But a study in 2012, written by Sam’s mother, Leslie Gordon, and published in the Proceedings of the National Academy of Sciences, showed that a drug used to treat cancer—lonafarnib—improved vascular stiffness and bone structure in children born with progeria. If further trials support lonafarnib’s use, it would be the first potential treatment for the disease.
Treatment didn’t come soon enough for Sam. But he and his parents spent his short, remarkable lifetime pushing science and understanding forward.
Says Seng: “Sam recognized that he alone had the talent, the maturity, and the mission to not only promote awareness of progeria, but [also] to show how a person can live his life with any disease.”