Sam Berns's life was improbable. He was born with progeria, a disease of rapid premature aging that only about 250 children worldwide are known to have.
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.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 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.
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 the Progeria 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 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.
Their work was featured in the US documentary Life According to Sam, which brought greater attention to the condition.
However, the teenager did not let the disease define him, and encouraged others to live with a positive mentality, something he stressed during his talk at the TEDxMidAtlantic conference last autumn.
He told the audience that while he was promoting his programme he was asked by a journalist: “What is the most important thing people should know about you?” to which he replied “I have a very happy life.”
“Even though there are many obstacles in my life, with a lot of them being created by progeria, 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 said.
He concluded the talk by saying: “All in all I don’t waste energy feeling bad for myself, I surround myself with people that I want to be with, and I keep moving forward.
"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."
Here's a video on Sam's philosophy of how to live a happy life at TedXMidAtlantic conference.
Sam died on 10th January, 2014 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. 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.
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.Owner of the New England Patriots American football team, Robert Kraft, mourned Berns’ death.He said that he had invited the teen to be the team's honorary captain for Saturday night’s playoff game against the Indianapolis Colts and was looking forward to spending time with the teenager and his family.“I loved Sam Berns and am richer for having known him,” Kraft said in a statement on Saturday.Berns, a sports fan who was invited to a Patriots practice in October, gave the players an impromptu motivational speech, the Boston Globereported.
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.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 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.
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 the Progeria 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 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.
Their work was featured in the US documentary Life According to Sam, which brought greater attention to the condition.
However, the teenager did not let the disease define him, and encouraged others to live with a positive mentality, something he stressed during his talk at the TEDxMidAtlantic conference last autumn.
He told the audience that while he was promoting his programme he was asked by a journalist: “What is the most important thing people should know about you?” to which he replied “I have a very happy life.”
“Even though there are many obstacles in my life, with a lot of them being created by progeria, 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 said.
He concluded the talk by saying: “All in all I don’t waste energy feeling bad for myself, I surround myself with people that I want to be with, and I keep moving forward.
"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."
Here's a video on Sam's philosophy of how to live a happy life at TedXMidAtlantic conference.
Sam died on 10th January, 2014 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. 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.
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.Owner of the New England Patriots American football team, Robert Kraft, mourned Berns’ death.He said that he had invited the teen to be the team's honorary captain for Saturday night’s playoff game against the Indianapolis Colts and was looking forward to spending time with the teenager and his family.“I loved Sam Berns and am richer for having known him,” Kraft said in a statement on Saturday.Berns, a sports fan who was invited to a Patriots practice in October, gave the players an impromptu motivational speech, the Boston Globereported.
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