Written by S. Bowyer

 

     Sam Berns, 17, died early in 2014. His name may not be known to us all, but among people who suffer Progeria, he was a hero. His mother, Dr. Leslie Gordon, a physician, and his pediatrician father, Dr. Scott Berns, founded the Progeria Research Foundation, to obtain awareness for the condition and promote research into the cause and possible treatments. Their family and their determination to find a cure was featured in Life According to Sam, a documentary filmed before Sam's death.

     Sam was a strong person, with such emotional maturity, who shared his life and his struggles with the world. Not for fame, but just because he wanted to share who he was, and what Progeria meant.

 

     Progeria is the name given to accelerated aging diseases, such as Hutchinson-Gilford Progeria Syndrome (HGPS) where the child shows rapid aging affects from the age of 1-2 years, Wiedemann-Rautenstrauch Syndrome, where rapid aging begins in the womb, and Werner Syndrome, where the process begins in their teen years to early adulthood. The diseases are 100% fatal, children with HGPS dying by the age of 14, and Werner Syndrome patients dying when they are middle-aged. Sam Berns died at the age of 17, beating his life expectancy by 3 years. 

     One in every 4 million births are positive for Progeria. It's estimated that there are 250 known cases in the world currently, however the Progeria Research Foundation suggest 150 cases have gone undiagnosed. 

     Progeria patients have definitive symptoms. Skin tightness, wrinkles, recessed jaws, kidney failure, blindness, heart problems, fragile bones, musculoskeletal degeneration, dislocated hips, joint problems, and hardening of the arteries, meaning most of the children die of stroke or heart attack in their teenage years. Progeria does not affect brain function, therefore persons with Progeria are not intellectually deficit, nor should be treated as such.

     In 2003, it was discovered that Progeria is a genetic mutation, which is within a dominant gene. The responsible gene, LMNA, is entrusted to secrete Lamina A protein, which holds the nucleus of a cell together in the human body. With Progeria, the defect means the nuclei are unstable, which causes premature aging. With this knowledge, it is now possible to test early for Progeria and start affected children on preventative methods. The Progeria Research Foundation released a handbook, encouraging parents to pursue certain occupational therapy and physical therapy routines, dietary practices and many daily routines that might assist their children live longer, or healthier lives with Progeria.

     So far several treatments have been attempted for children with Progeria. One type is "treat the symptoms" meaning that patients are given aspirin to help prevent strokes. Another attempted to use growth hormones. Yet another used the anti-cancer drug, Rapamycin, as it was found to remove Progerin, "the defective scaffolding" from membranes. Progerin is thought to control how humans age.  

     Life According to Sam is about Progeria and families affected, how Progeria is created, and possibly cured. We also get an inside look of the Gordon/Berns family. The home movies of the family really gave the documentary a special, real aspect. This isn't just your typical medical documentary. Their candid narratives help the viewer really tap into what it must have felt like bringing up a child you knew wouldn't live "forever". I particularly loved how the other patients are also given their chance to speak how Progeria affects them in their own cultures and social circles.

     We begin the documentary meeting Sam. Sam was a lover of Lego, music and creation, and he wished to ride (for him) bone-breaking rollercoasters. He attended school with "normal" children and exuded a gentle confidence. His warmth and welcoming spirit are evident from the opening moments of the footage. His daily medications and preventatives were treated as typical routines that just have to be done, along with brushing his teeth and getting dressed for his day. He was an amusing heart who said he just wanted his mum to stop worrying about Progeria and cure it already.

     Sam's parents maintain positivity and kindness despite what's going on. Dr. Gordon says that when Sam was disagnosed when he was 2 there was no treatment or support for patients of Progeria. They raised $1.25 million dollars to form the Progeria Research Foundation to give the missing assistance to families affected. Further to that, it was their work that lead to the discovery of the gene that mutates and causes Progeria, opening many doors to how Progeria could be medically handled. The drug, Lonafarnib, used with brain cancer patients, showed most promise in mice with the mutation.

     "To discover that some aspects of damage to the blood vessels in Progeria can not only be slowed by the FTI (farnesyltransferase inhibitor) called Lonafarnib, but even partially reversed within just 2.5 years of treatment is a tremendous breakthrough, because cardiovascular disease is the ultimate cause of death in children with Progeria," Dr. Gordon was quoted.

     Trials of Lonafarnib on Progeria patients began, which is the focal point of this documentary. Dr. Gordon decided not to use a placebo, due to the short time most of the children had left. 75% of the Progeria patients (28 children) in a 2.5 year drug trial showed improvement. During testing, children found a 35% decrease in arterial stiffness, 50% increased weight gain of bone and music mass, and skeletal rigidity improved to normal levels. 

     Dr. Gordon notes that these findings might help unlock anti-aging and heart disease problems in other patients, but that her focus will always be children with Progeria. Her love for the children under her care is inspirational. Sam shares his mother's care, having friends in many of the other patients, remembering them as friends he wish hadn't passed.

     Sam's daily life was one of hope and joy, despite what his family deal with. He attended concerts and Baseball with his Dad, other times having week-long hospital sessions of over 100 tests. He felt isolated from his friends, home, and cats when he had these hospital stay-overs. "I lose all of the things that make me ME," he said. "Except for Progeria." 

     "My least favourite part is the medical photography because I feel like a specimen being examined," Sam admits. "I don't even feel like a person; I don't even feel like I'm me. I feel like that's all that I'm good for." It was complete contrast to how Sam felt at the concert with his father previously, which displays how connected, yet separated a person can feel from their condition, based on their environment or the events.

     Sam Berns was awarded for high academic achievement when he graduated from Junior High School. His health condition seemed the furthest thing from his mind. He scored over 90% on his exams, and won 2 special awards also. His class and their families gave him a huge round of applause and congratulating. He had dreams of becoming an inventor and going to a specialty IT school. Yet, fitting into High School became a concern when he was told his condition might affect his place in the marching band, which he dearly wanted to join.

     "I just want to live a happy, happy life," he said, days before his 15th birthday.

     The nail-biting part of their life was when Dr. Leslie Gordon completed the trial, they would have to write a report for review. If accepted, the medication will be allowed to be given to other Progeria patients who were not involved in the first trial. If not accepted, their work, although powerful, cannot be acted upon in the form of further testing Lonafarib. The documentary follows as the first trials is completed, the reports written (which took 17 months to analyse data), and the result. Subsequently, the re-submissions and revisions that were asked to be made.

     On August 12th, 2012, the final result of the submissions was gained. Included in these reports were the patients' results during the testing, and they were individually sat down and described how they changed during the course of treatment. Sam was included in this one-on-one consultation, only it was a colleague and not his mother, as with other patients.

     The documentary is a beautiful orchestra of people in their struggles with a condition that is yet to be eradicated. The heartbeat, the soul, the spirit of those who fight to survive. Sam's passing is a shame, but I like to believe his family got some comfort, knowing that Progeria being cured is a reality one day, with more drug trials in sight, and Dr. Gordons' new goal of having Lonafarib available to all children with Progeria.

     As Sam aptly said, "There are always things to look forward to, and I'm always happy I get to experience them."

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