Thursday, March 31, 2016

Sam Berns a"h

Sam Berns was scheduled to serve as an honorary captain at Saturday night’s New England Patriots playoff game. Instead, the team planned to hold a moment of silence before the game in his honor. 

The Foxborough high school student, whose battle with progeria inspired a monumental effort to treat the rare and little-understood “accelerated aging” disease, died at home Friday night from complications of the disorder, his parents by his side, according to a family friend. He was 17. 

When Berns was diagnosed with progeria as a toddler, doctors told his family he might not live past 13. His parents, Leslie Gordon and Scott Berns, both doctors, worked to further understanding of the disease. Gordon began a research campaign that brought children with progeria to Boston from all over the world. 

In 2003, she and her team isolated the gene that causes the condition, and they have since identified drug treatment that has helped prolong lives of children such as her son. 

Their work on behalf of progeria patients is the subject of the feature film “Life According to Sam,” which was recently shortlisted for a nomination in the Academy Awards’ documentary category. The exposure has brought widespread recognition and a fund-raising windfall to the Progeria Research Foundation, a nonprofit based in Peabody, established and directed by Sam’s aunt, Audrey Gordon. 

Patriots owner Robert Kraft, after being introduced to Sam Berns and attending the HBO premiere of the documentary in New York in October, made a $500,000 matching pledge to the foundation. Sam Berns, an avid sports fan who played the snare drum in the Foxborough High School marching band, was invited to a Patriots practice that month, where he gave the players an impromptu motivational speech. 

At the practice, Berns was asked to name his favorite player. He did not have one, he replied — it takes a team to succeed.  

“I loved Sam Berns and am richer for having known him,” said Kraft in a statement Saturday. The film, he said, “was so beautifully done. It made you laugh. It also made you cry. Today, it’s the latter for all who knew Sam or learned of his story through that documentary.”  

Berns’s willingness to become the public face of progeria,  which causes musculoskeletal degeneration, cardiovascular problems, and other symptoms consistent with human aging, brought him a kind of celebrity status that his family worked hard to defuse. As much as possible, they wanted him to live the life of an average high school student. He loved comic books and the show “Game of Thrones,” and he recently became an Eagle Scout. 

Yet he also became friendly with the members of his favorite band, the Dave Matthews Band, and was a frequent VIP guest of the Boston Bruins.

Last month, the TED conference posted the talk Berns recently delivered called “My Philosophy for a Happy Life,” which earned the young man many more admirers through social media. 

“Even though there are many obstacles in my life,” he told his audience in Washington D.C., “I don’t want people to feel bad for me. I don’t think about these obstacles all the time, and I’m able to overcome most of them anyway.” 

The Progeria Research Foundation was initially established to find a cure for Berns, said Kim Paratore, a board member and a longtime family friend. “But it became this drive for all of them, this resolve to help all of the children. 

“Sam put himself in uncomfortable situations sometimes and took huge risks socially — this was a teenager, after all — to help other kids. It was such a selfless act for all of them.” “Even though there are many obstacles in my life,” he told his audience in Washington D.C., “I don’t want people to feel bad for me. I don’t think about these obstacles all the time, and I’m able to overcome most of them anyway.” 

He agreed to become the subject of the documentary after meeting with the award-winning codirectors, Sean Fine and Andrea Nix Fine, at a local Chili’s. 

“There had been some previous media happenings in my life, but I’d been generally out of the spotlight for a while,” he told the Globe in December. “I wanted to know more about what this process was going to be like. I was definitely hesitant at first, but these circumstances were the best I thought we could have to make an amazing film that could reach out to everyone out there and help other kids with progeria.” 

Though the family knew that Berns’s life expectancy was not long, they held out hope that each day would be the one that would lead to a cure. 

“I don’t think they were prepared for this,” said Paratore. “They were preparing for him to apply to college.”


  1. My philosophy for a happy life. Sam Berns, a 17 year old with progeria.

  2. Even if a syndrome is recognized, like progeria, there are huge barriers to research, illustrated by Sam Berns’ case. Sam was born in 1996, and diagnosed with progeria at 22 months. His parents, Drs. Scott Berns and Leslie Gordon, both physicians, formed the Progeria Research Foundation⁠ (PRF) in 1999, in response to his illness. Gordon subsequently completed an MD-PhD program and has since devoted herself to research on her son’s disease, working closely with NIH, through it's director, Dr. Francis Collins.

    The Progeria Foundation has made remarkable progress since then, through this collaborative process. In 2002, the PRF Genetics Consortium was formed; they succeeded in identifying the gene for progeria, in part through their development of a PRF Cell and Tissue Bank, just 10 months later. This single gene mutation leads to an inner nuclear membrane protein, called Lamin A, to be produced abnormally, and a farnesyl group can’t be cleaved. The resultant abnormal protein, called progerin, causes persistent farenesylation, or accumulation of this protein on the nuclear rim. This leads to distortion of the nucleus of cells and abnormal development, resulting in cells being unable to divide normally and to the cell’s premature aging.

    Astonishingly, PRF funded and coordinated the first clinical trial of a treatment for progeria, using a drug called lonafarnib, a farnesyltransferase inhibitor (FTI), which inhibits this process. FTI had been shown to prevent cardiovascular disease —the major cause of death in children with progeria—in young mice and to reverse disease⁠ somewhat in older ones. The trial included 28 children—75% of the world’s population with the disease at that time, including Sam Berns. His mother, Leslie Gordon, was the lead author on the report announcing the first potential treatment of progeria, with some patients showing modest improvement in weight gain, cardiovascular, and bone disease.

    Since then, other targets for treatment are under study. A triple drug trial is in progress, combining drugs for the targets shown: lonafarnib (FTI inhibitor, pravastatin, and zoledronic acid, a bisphosphonate. (The latter drugs have been marketed for some years for treatment of elevated cholesterol and osteoporosis, respectively). Rapamycin (sirolimus), a macrolide antibiotic used as an immunosuppressant, is also being explored, as it removes progerin from the cell’s nuclear membrane⁠.


    And many more