05/05/2003 at 01:00 AM EDT
Sam Berns is a blur as he bursts through the front door on a Friday afternoon. Sporting a Boston Red Sox jersey, the 6-year-old does a slow-motion mime of an outfielder's leap. Moments later he's playing tag with his aunt. Finally Sam plops down at the family's upright piano to pummel the ivories. Musically his taste currently runs to Queen and Genesis. "But I'm mad at Justin Timberlake
," he says, with a scowl, repeating some schoolyard gossip, "for calling Britney fat."
Just a typical kindergartner? In spirit, perhaps, but in body Sam is devastatingly rare: He's among the estimated 1 in 4 million children born with progeria, an incurable genetic disorder that rapidly transforms them into wizened old men and women. Small for his age at 40 in. and weighing only 33 lbs., Sam has already lost all but a few wisps of his blond hair. He often moves stiffly, and because the disease melts away body fat, his skin is as translucent as an octogenarian's. Most progeria victims die of heart disease or stroke by their early teens. But Sam's parents, physicians Scott Berns and Leslie Gordon, both 38, refuse to accept his fate. Says Berns, a vice president of the March of Dimes: "We have channeled our sadness, shock and 'why us?' feelings into 'What are we going to do about it?' "
In fact they have helped strike a mighty blow against the disease. Thanks largely to the couple's organizing and lobbying efforts, scientists at NIH's National Human Genome Research Institute in Bethesda, Md., announced April 16 that they had identified the gene responsible for progeria—a mutation that produces a defective protein that appears to cause premature cell death. Now researchers can look for ways to block the gene's destructive effect, offering hope to kids like Sam. "It's not inconceivable that a basic treatment for progeria could happen in two or three years," says Dr. W. Ted Brown, a progeria expert.
Gordon met the breakthrough with conflicting emotions. "I was over-whelmed with joy," she says, curled on a sofa in the Foxboro, Mass., home she shares with her husband and child. "But I was reminded, like a slap in the face, that my son has a fatal disease. I felt, 'Ohmigosh, I don't know how to cure this,' and it was horrifying."
She and Berns had felt nothing but joy when Sam was born on Oct. 23, 1996—5 lbs. 13 oz. and healthy. But before his first birthday, it was clear that something was wrong. To begin with, Sam was barely growing. "He seemed to lose weight, and his hair got thinner and thinner," says Dr. Monica Kleinman, a pediatric intensive-care specialist who trained with Berns. "I kept thinking, 'I've seen this before.' "
Finally in August 1998 Kleinman met with Berns and told him she remembered where—a genetics textbook entry on progeria. Berns shook as he relayed the news to Gordon at a hospital eatery. She remained skeptical until X-rays revealed a classic symptom: The bones at the ends of his shoulders were being resorbed into his body. Two days later Gordon quit her pediatrics residency to study the disease full-time. She and Berns soon learned that few others were doing so. "There was no organization to turn to," Gordon says. "No funding from NIH and a couple of scattered researchers working on the problem."
So in 1999 the pair set up the Progeria Research Foundation, which has so far raised more than $800,000. They started a clinical database and skin-and blood-cell bank from progeria children for genetic study. (Families from 16 countries have contributed.) "It's bigger than Sam now," says Gordon, who spends time in the lab herself, doing cellular research. "I owe these children." The couple's lobbying helped persuade Congress to include progeria in the Children's Health Act of 2000, meaning that NIH had to start studying the disease. "Without Leslie and Scott," says NHGRI director Dr. Francis Collins, who keeps a photo of Sam taped to his home computer, "my lab would never have worked on this."
Progeria research may eventually unlock larger mysteries. "We don't really know what aging is," says Dr. Huber Warner, an associate director at the National Institute on Aging. "This identifies a new place to look." Collins's team is studying whether other variations of the same gene would cause people to live longer. As for curing progeria itself, Collins says, "now we have a pathway forward and aren't just feeling our way in the dark." Still, he adds, "we're going to have to work very fast and very well for a treatment to come along in time for Sam."
Berns insists that "nothing is impossible." Bolstered by a daily shot of human growth hormone, which has helped help him get bigger and stronger, Sam undergoes physical therapy to work on flexibility and range of motion. "The kids play chase all the time, and he keeps up," says kindergarten teacher Laurie Waterman, who placed Sam in the top reading group. After school he plays youth baseball. "I can really hit," he boasts. "I practice at home—I'm really good."
These are the times his parents live for. "Every minute I have with him is a blast," Berns says. Adds Gordon: "No matter what happens, what we'll never regret is Sam's life."
Macon Morehouse in Foxboro