When Sam Bern was diagnosed with Hutchinson-Gilford Progeria Syndrome (HGPS), a rare premature-ageing disease, his parents’ dedication to finding a treatment affected the lives of dozens of families.
Progeria is a rare genetic disease that affects 1 in 4-8 million children worldwide. It is caused by a single mutation in chromosome 1: a change from a ‘C’ to a ‘T’ in the genetic code. The result is an abnormal protein, which disrupts the shape and stability of the cell centre (the nucleus). The life expectancy is on average 13 years, with stroke or heart attack the most common cause of death.
Symptoms of the diseases are seen a few years after birth. The child’s growth and weight gain are slower than expected. Children affected with progeria have characteristic facial features such as a thin nose with a beaked tip. Hair loss and aged-looking skin is another effect of the disease. However, intellectual and motor development are normal.
At birth Sam was fine, until his parents noticed that he was not growing. His first teeth hadn’t come in on time, amongst other developmental abnormalities. When he was diagnosed with progeria in 1998, the disease was barely known and doctors had no idea what caused the premature ageing observed in children with the disease. The National Institute of Health had invested little in progeria studies.
Sam’s mother Leslie Gordon, a paediatrician and medical researcher at Brown Univeristy, set out to learn more about her son’s condition and to find a treatment. A year later, she – along with husband, Scott Berns – founded the Progeria Research Foundation. So far, this foundation has helped diagnose 116 children worldwide. The money they raised funded the research that led to scientists identifying the gene defect that causes the syndrome, and has given us a much stronger understanding of the disease.
Thanks to their work, it was discovered that a 10 year old anti-cancer drug could be useful as a treatment for progeria. Lonafarnib, a Farnesyl Transferase inhibitor (FTI), have been shown to reverse the abnormal structure of the nucleus. However, though this drug has been shown to be efficient in mice, it is yet to demonstrate beneficial effects in children with progeria, and it is this last step in the research to make the treatment available is what Sam and his family are fighting for.
Life according to Sam is a documentary, directed and produced by Sean Fine and Andrea Nix Fine, about Sam’s everyday life with progeria and his parents’ race against the disease. We learn about Sam’s hobbies, likes and dislikes. He is a straight-A student with great ambitions to become an inventor, “kind of like Albert Einstein and Steve jobs combined.”
The presentation of the ongoing clinical trials of a drug that could improve some of the symptoms of progeria is laced with emotion. Leslie Gordon and Scott Berns show passion, dedication and determination to publish the research required to show the success of the drug. Sam, along with the other children enrolled in the clinical trials, go through rounds of testing periodically. Needle sticks, breath tests, and more poking and prodding.
At the beginning of the documentary, Sam is 13 years old. Three years later, Sam is about to turn 17. He tells us: “I didn’t put myself in front of you to have you feel bad for me. I put myself in front of you to let you know you don’t need to feel bad for me. I want you to know me. This is my life, and progeria is part of it.”
Life According to Sam premièred at the 2013 Sundance Film Festival, and is available to watch via HBO.