For the first nine months of Sam Berns' life, everything seemed normal. He learned to walk, but his parents noticed something was different.
"Something was wrong," remembers his mother, Leslie Gordon. "I kept saying, you know, there's something going on, there's something going on. Maybe at first it was just a feeling more than anything."
It seemed Sam's growth had slowed dramatically. After a year, doctors ultimately diagnosed him with a genetic disease so rare that it affects just one in 8,000,000 children. Only 40 children in the world are known to have the disease.
The disease, progeria, ages children at up to 10 times the normal rate. They stop growing prematurely, then lose their hair and get arthritis. Some children suffer strokes by the time they are 4 or 5. There is no known treatment or cure, and most patients die of heart disease by the age of 13.
For Sam's parents — both doctors who understood the significance of the diagnosis — the news was devastating.
"I'm trained in pediatric emergency medicine," his father, Scott Berns, tells "Primetime." "My mind-set is to go in and to help and to fix things. And now we're told we have a diagnosis of progeria and there's nothing you can do about it. Your son's going to die."
They were determined to do something. Gordon devoted herself full-time to researching her son's disease. She soon learned that there is almost no information about the disease, and no organization fighting for the kids who have it.
Berns and Gordon created a nonprofit organization, the Progeria Research Foundation, to collect information about the disease and raise money to fund research.
Like a Needle in a Haystack
Progeria — which gets its name from the Greek for "prematurely old" — is a gene mutation. But scientists had not identified which gene or genes were responsible for the disease, so they had no idea how to start hunting for a cure.
With most genetic diseases, researchers can examine family trees to see how diseases recur, cross-referencing the information to narrow the hunt. But with progeria sufferers seldom living into their teens, researchers had no family trees to study.
"If you don't even know at the most fundamental level what's wrong in an illness, how could you possibly figure out what to do for it?" says Dr. Francis Collins, the director of the National Human Genome Research Institute at the National Institutes of Health.
But Gordon was determined to try. She contacted all the families she could find who had been affected by progeria — families all over the world — and asked them to provide tissue samples to help her develop a cell and tissue bank that could help researchers identify the gene causing the disease.
Less than a year later, Collins' team at the NIH called Berns and Gordon with good news: By comparing the genetic samples collected by the foundation with a normal human gene structure, they had found a common chromosome glitch that almost all the progeria-afflicted children shared.
"We found the cause of progeria," Collins told them over the phone. Researchers now had a starting point for understanding the disease.
The discovery could potentially be the first step toward finding a cure for the rare disease and possibly even a way to combat the diseases of aging in the general population — the long-sought Fountain of Youth.
Collins has joined forces with Elixir Pharmaceuticals, a Massachusetts company that had been researching the genes of healthy centenarians in the hope of learning more about symptoms of aging, such as heart disease and arteriosclerosis. The company intends to compare what it knows about the centenarians with DNA samples from the young progeria patients.
One Day at a Time
These days, 9-year-old Sam acts just like any child his age.
"I see somebody who's funny and smart and happy and jumping around and being a kid like he should be," says Gordon.
However, Sam has the body of an elderly man, 10 times his own age. He's starting to feel some of the effects of premature aging, including poor eyesight and stiffness in his joints. He has not, fortunately, had any of the more serious afflictions, such as stroke.
"None of us know what's going to happen to us," says Gordon. "We take it one day at a time. Just like every other family. We enjoy every day."
Just like any fourth-grader, that's just what Sam does. His favorite things include baseball, playing drums, Legos and reading the fantasy book "Eragon."
There's even more good news, as scientists have isolated the progeria gene and found a medication that seems to reverse the disease in lab rats. The Progeria Research Foundation, which Sam's parents started, is trying to get a first-ever drug treatment trial for progeria. They're working to raise the $2 million necessary to conduct that trial.