This week, HBO has been airing a stunning documentary about a middle-school boy who suffers from an extremely rare but fatal disease called progeria, and his doctor-parents’ quest for a cure. As explained in “Life According to Sam,” Hutchinson-Gilford progeria syndrome is a non-inherited genetic disorder that causes children to develop symptoms, and even the appearance, of advanced age.
Children with progeria appear normal at birth, but their growth rate slows significantly within the first year. They tend to grow bald and develop aged-looking skin, and they suffer from medical issues more typically seen in geriatric patients, although their intelligence is normal. Tragically, most patients die around age 13 due to heart attacks or strokes.
Sam is now 17, although he was 13 when much of the documentary was filmed. The emotional isolation you might expect from a kid who looks so different, however, doesn’t seem to slow down the enormously funny and charming Sam. The diagnosis didn’t slow his mother down, either — quite the opposite, in fact.
Sam’s mom and dad are both physicians and, along with her sister, founded the first and only Progeria Research Foundation, which isolated the gene mutation responsible for progeria in 2003. The mom went on to get a potentially useful drug fast-tracked into clinical trials in which Sam was a patient. Sam’s parents also initiated the documentary, partly in an effort to see the results of that drug trial publicized.
According to the U.S. National Library of Medicine’s Genetics Home Reference website, the gene mutation that causes progeria only affects about 1 out of every 4 million newborns worldwide. For those who suffer from the disease and have limited financial means, the Social Security Administration has included progeria in its Compassionate Allowances list.
Compassionate Allowances are an effort by the SSA to expedite Social Security disability claims for people with diseases and conditions that invariably qualify them for benefits. Applications through the Compassionate Allowances program require only minimal medical documentation in order to be approved.
Sam plays the drums, gets backstage access at rock concerts, and even rode a roller-coaster, although he broke two ribs. “I’m pretty happy with my personality,” he says. We can all aspire to such wisdom.
- WBUR.org, “Documentary Follows Foxborough Family’s Search For Progeria Cure,” Erin Trahan, Oct. 20, 2013
- NIH National Center for Advancing Translational Sciences’ Genetic and Rare Diseases Information Center,” Progeria,” Nov. 19, 2012