Mother Discovers Gene Mutation Responsible for Son’s Progeria

Sam Berns has progeria, a rare fatal genetic disorder that causes children to age far faster than the rest of us. It’s so rare that fewer than 250 children in the world have it.
But when Sam was born
very little was known about the disease and his parents, both doctors, weren’t willing to accept that Sam was rapidly aging without proper proof.
“Maybe it looks a little like aging,” says Sam’s mother Dr. Leslie Gordon, “but you're not going to convince me that it has anything to do with aging until the science tells us that it does.”
So when Sam was almost three years old Dr. Gordon started the Progeria Research Foundation to study the disease to find out what information was missing about this mysterious disorder.
It turned that the question wasn’t so much what was missing, but what was there to work with. There were no cell tissue banks for researchers to study, no funding, and no organizations for families and physicians to learn about progeria.

She helped form a consortium of doctors and researchers who found that progeria is caused by an abnormal protein called progerin. And what may be the most shocking part of the discovery is that progerin is in everybody, not just in those 250 people with the disorder.
The difference is that those without progeria have low levels of progerin, while Sam is teaming with it.
The high levels of progerin causes Sam’s body to age much faster than those without it and it’s Dr. Gordon’s mission to slow down that process as much as possible.