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Life zooming by too fast for American boy
(Agencies)
Updated: 2005-02-02 09:45

American boy Sam Berns looked odd: big bald head, beaky nose, strangely undersized chin and mouth, blue veins twisting beneath a translucent scalp. He was very short and very skinny, and he had a stiff-hipped waddle when he walked.

But after spending a few minutes with the boy in Foxboro, Massachusetts, the oddness melted away, and you could be in the vivid vortex of Sam's personality; noisy, jokey, smart, imaginative and just a little bit full of himself, The New York Times reported Sunday.

Sam has progeria, which is usually described as a grossly accelerated form of aging that turns children into wizened old men and women before their teens. But this child was no wizened old man.

He babbled nonstop, his voice permanently high-pitched. In every single way, except the way his face and body looked, he was a pure 8-year-old boy.

Keeping up with Sam Berns is exhausting. He operates at warp speed, cramming three times the normal action into any single hour. It's almost as if Sam knows that he is, quite literally, running out of time.

That familiar sense of life zooming by too fast is what makes progeria so compelling. But a disease that affects no more than 15 or 20 Americans at any one time would barely get any research attention if not for an advocate to promote it.

Scientists make choices, and politicians make financing decisions, based on the likely payoff; the more common the disease, the greater the chance that there will be government grants available to support it and scientists who want to do the work. How, then, does a disease this rare become the object of study.

That's where Sam's mother comes in. The woman is herself a physician-scientist, and she has devoted the past six and a half years of her life to searching for a cure for her son's disease.

Since the day in 1998 when Sam's condition was diagnosed, his mother, Dr. Leslie Gordon, has marched to the cruel allegro of her son's illness, which she knew could kill him by the time he reached his teens.

She redirected her career, quitting her internship in pediatrics in order to devote herself full time to progeria. She created a nonprofit organization to promote research into the cause and possible treatments and cures.

After spending months reading scientific literature, she eventually talked her way into the laboratory of a cell biologist at Tufts University, soon learning enough from him to start her own progeria-research lab.

She co-sponsored three major conferences with the help of the U.S. National Institutes of Health (NIH).

She shuttled to Washington to lobby on Capitol Hill, resulting in a legislative coup — specific mention in the Children's Health Act of 2000 — that forced NIH to conduct and support progeria research.

And in the spring of 2003, she stood alongside two of the nation's leading geneticists to announce the discovery of the progeria gene.



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