Sam Berns, star of the HBO documentary Life According to Sam, died Friday evening, reports the Boston Globe online.  Berns was a 17-year-old student at Foxborough High School and a fan of the New England Patriots.  He was set to be an honorary captain at their Saturday night playoff game against the Indianapolis Colts.  Since he passed away the night before, the Patriots had a pregame ceremony to honor him.  Berns suffered from progeria, an advanced aging disease.

According to CNN, Berns had captured the hearts of many who saw the documentary and those who got to know him.  Patriots’ owner Robert Kraft was one of Berns’ fans, stating after his death that his life was “richer for having known him” and that he was touched by Berns’ “positive outlook on life.”  Berns was known for living life as fully as he could, despite his short life expectation.

Berns joined the marching band, playing a specially designed snare drum.  He did not let the fact that he weighed all of 50 pounds or that the average life span of someone with progeria is 13 years discourage him.  He attended his school’s homecoming dance. Most importantly, he always kept his head up.  During a talk at a TEDx conference in October 2013, Berns said that he did not want people to feel sorry for him, even though he had a lot of obstacles in his life.

The National Human Genome Research Institute reports that progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging. The condition, which derives its name from “geras,” the Greek word for old age, is estimated to affect one in 4 million newborns worldwide.  The most severe form of the disease is Hutchinson-Gilford progeria syndrome.

Progeria is still not well understood, though scientists have identified a genetic basis.  According to the Progeria Research Foundation, the condition is caused by a mutation in the gene that produces the lamin A protein.  That protein is the structural scaffolding that holds the nucleus of a cell together.  The abnormal lamin A protein that causes progeria is called progerin.  Progerin makes the nucleus unstable.  That cellular instability leads to the process of premature aging and disease in progeria.  The isolated gene is particularly important because different mutations of the same gene have been shown to be responsible for at least a half-dozen other genetic disorders, including two rare forms of muscular dystrophy.