PHOTOGRAPH COURTESY HBO
Published January 14, 2014
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.
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 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."
Watch Sam Berns's TED Talk on his philosophy for a happy life:
My condolences to Sam's parents and family. You are very special people to have raised such a very special child! God bless you and send you much comfort knowing that your son Sam is ETERNALLY HAPPY and some day you will join him in this eternal happiness. It is time to mourn and time to find a cure until you meet again. PEACE
Strong, intelligent, young man with such a zest for life! My thoughts are with his parents at this tough time - they were extraordinary in their care for him. Allowing us to glimpse into their lives - I feel we are all the better for it. Everyone in their small family are all inspirations, pioneers, and exude love in a way that will affect many.
You ARE a life changer, Sam. I am re-inspired to pursue my goals to make a positive difference in this life.. I know that you are in Bliss. God bless your family and friends and give them comfort in their memories of you.
oh Sam, you will be missed by so many. In your short life you have been such an inspiration to so many.....You have used your disease of progeria to the positive.....to make people aware of this disease and hopefully your courage and positive outlook will be a factor in conquering this disease. Your parents are very proud of you....and having just known about you....am in awe of your positive attitude.....you are a very special person.....and the world is for the better for having you here on earth....as short as it was. May you RIP.....
Would love to see you guys get behind and support this cause. Imagine the amount that could be raised!
Check them out ==> http://teespring.com/samberns
The death of this young man breaks my heart. I have my own Progeria story that had a profound effect on me. I was a police officer at NIH in Bethesda in 1989, manning a traffic post to the entrance of the hospital parking garage one day, checking passes and so forth for entry. This one car came through, and after I let it pass, this little person turned around in the back seat, and looked through the back window at me. Our eyes locked, and he smiled and waved at me. I waved back, but I suspect my mouth was probably hanging open, because I had never seen anything like this child. The only thing my brain could equate him to at that moment was the image of a stereotypical "Alien". Of course I knew he was no alien, and as the car continued to proceed through, one of the weirdest (and most profound) feelings Ive ever experienced occurred....I had this wave of absolute love course through my entire body! This child's eyes and smile were the most beautiful things I have ever seen in my entire life! The feeling was palpable, and I could see (through his eyes and smile) that this child embodied all that was good, innocent, pure, genuine and loving in this world. I got goose bumps then, and here I am some twenty four years later, and i can still picture those beautiful eyes and smile as if i saw him yesterday...and I still get those same goose bumps! If someone had told me that this five to ten second passing encounter would effect me to the core of my soul, I would have told them they were crazy! I believe that child made me a better person then I was beforehand without even knowing he had done so! I wouldn't know what this child suffered from for several years after this encounter, until I saw a news segment on another child with "progeria". I did some research on it myself at that point, and then I was finally able to come full circle and understand why the child I saw that day looked so different....because thats clearly what he had. I really hope doctors can find a cure, or better yet a way to prevent this disorder.
@Scott Feldman I completely understand the feeling of the wave of absolute love the coursed through your entire body. The very same feeling overcame me when I watched Sam's TedMidAtlantic Talk about his philosophy for a happy life. I have been struggling with his passing ever since. He embraced life and spent his life looking forward to a brighter future where he could change the world. I, too, feel like I am a better person for have spent a few precious minutes watching Sam's talk. I have spent the last few weeks seeking out everything I could find on Sam online and watch things over and over. My heart feels heavy with thoughts of what Sam's parents are going through with him gone. They worked so very hard to do everything possible to find that cure to save his life and so many other beautiful children afflicted with this disease. It's difficult to let go. I know it will take me some time, but I will always hold close to my heart this wonderful young man and his passion for life. He was full of so much goodness. He was a truly special individual, and all he ever wanted was to be surrounded by the people he loved and cared for. Blessings to his entire family.
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