Rare Disease Community Loses a Champion

Patients are the Inspiration for Scientists Working on Developing New Treatments

01.15.14 | By Stephanie Fischer

The rare disease community lost a champion last week when Sam Berns passed away at age 17 due to complications from progeria, an extremely rare genetic disease which causes accelerated aging.  Last October, Sam shared his inspiring philosophy for a happy life in his talk at TEDxMidAtlantic.

According to the Progeria Research Foundation, only 103 children worldwide were known to have progeria in 2013 and the average life expectancy is 13 years.  The HBO documentary Life According to Sam features Sam and his parents’ search for a cure for their son and other patients facing the same fatal diagnosis.

National Institutes of Health Director Francis Collins worked in a lab that collaborated with the Progeria Research Foundation which was launched by Sam’s family.  In a tribute to Sam on his blog, he notes that discoveries about progeria may be applicable to the rest of us, as we all experience the aging process but at a dramatically slower rate and later in life.

What struck me most in Dr. Collins’ tribute was his comment about how an award he received from Sam serves as a reminder that “medical research is not just an academic exercise—it is about real people whose hopes and dreams depend on us.” 

That powerful sentiment is not unique to academic researchers. Making a difference in patients’ lives is what motivates scientists at biopharmaceutical companies, too.  You can hear directly from some of these scientists in PhRMA’s I am Research. Progress. Hope. video series.

If you’ll be in Washington, DC on February 25th, you have the opportunity to attend a free screening of Life According to Sam hosted by the Rare Disease Legislative Advocates as part of their International Rare Disease Day activities. I was already looking forward to it, but it will be even more meaningful as Sam’s death serves as a poignant reminder of the urgent need for effective treatments for progeria – and for other rare diseases with no approved treatment options.

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