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Health Works Collective > News > An Inspiring Rare Disease Story: Life According to Sam
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An Inspiring Rare Disease Story: Life According to Sam

Eileen O'Brien
Last updated: February 2, 2013 5:28 am
Eileen O'Brien
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Another compelling family story about a rare disease has captured the interest of filmmakers. The documentary, Life According to Sam, is about Sam Berns and recently premiered at the Sundance Film Festival. Sam has Hutchinson-Gilford Progeria Syndrome (progeria), a fatal genetic condition characterized by an appearance of accelerated aging in children. An ultra-rare disease, progeria only affects an estimated 250 patients worldwide at any given time.

Another compelling family story about a rare disease has captured the interest of filmmakers. The documentary, Life According to Sam, is about Sam Berns and recently premiered at the Sundance Film Festival. Sam has Hutchinson-Gilford Progeria Syndrome (progeria), a fatal genetic condition characterized by an appearance of accelerated aging in children. An ultra-rare disease, progeria only affects an estimated 250 patients worldwide at any given time. While Sam is 16, the average life span for children with progeria is 13 years old. Sam’s parents, Leslie B. Gordon, MD, PhD, and Scott D. Berns, MD, MPH, FAAP, are both physicians, so they were in an ideal position to work to find a treatment and cure.

Like many other rare disease parents, Drs. Berns and Gordon sprang into action when their son was diagnosed in 1998 and founded the Progeria Research Foundation. Since then, the gene causing progeria has been identified and the first-ever progeria clinical drug trial is taking place. Recently, positive results for the drug, lonafarnib, were reported. To learn more, read the blog Dr. Ricki Lewis wrote about Dr. Francis Collins and the history of progeria research.

In the video below, award-winning documentarians Sean and Andrea Fine preview the film, which has received excellent reviews. Look for it on HBO.

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