There are 7000 rare diseases. Each one unique and in most cases, poorly understood. What often separates an understood rare disease from a poorly understood rare disease is one person. A special person. A human catalyst. A person who becomes the ambassador for that rare disease and inspires others to research the disease, find others with the disease, raise funds for the disease, and develop an organized community around that disease. One such ambassador was Sam Berns
Sam was born 17 years ago with a rare disease called Progeria. At the time of his birth, very little was known about Progeria except that it was the ‘aging disease’ with a life expectancy of about 12-13 years. But Sam was a special person. A human catalyst. Sam inspired his parents and extended family to research the condition and eventually form the Progeria Research Foundation
that is currently running clinical trials for Progeria. That research is not only transforming the lives of its participants but the research being done may lead to breakthroughs in our understanding of more common ailments such as cardiovascular disease.
Sam also showed other Progeria patients how to lead a positive life and to not let the disease define you or limit your dreams. And that attitude was noticed by others. It was noticed by the Boston Bruins
, the New England Patriots
, Dave Matthews
, Francis Collins
, and many many more. And what did Sam do to inspire these people? Aside from being a typical teenage boy who liked to watch sports, play the drums, and hang out with his friends, Sam had a lust for life and a passion to succeed that inspired others.
And it’s those intangible aptitudes that are often needed to transform a poorly understood rare disease to a known one. And it does not require the person to be the patient. Pat Furlong
was the mother of two boys with Duchenne. Her drive and commitment are partially responsible why Sarepta, PTC, Prosensa, Eli Lilly etc are currently developing treatments for Duchenne. Jill Wood is the mother of Jonah – a boy with Sanfilippo disease. Her organization, Jonah’s Just Begun
, has been a catalyst for numerous research studies that will hopefully lead to a treatment. People like Sam, Pat, and Jill are human catalysts. They inspire.
Each well known rare disease began as a poorly understood one. And often it was one or two people who were the catalyst or inspiration to get others to try harder, research new ideas, find unconventional sources of funding, ask a congressperson for new legislation, etc. And when you come across that person – and there are many in the rare disease community – stop to talk with them. You will be inspired.
On Friday Jan 10th, Sam Berns passed away. He is no longer with us but the foundation he inspired - the Progeria Research Foundation
- lives on.