Savior Parents

(2 of 3)

> Gordon and Berns are committed to the idea that Sam, who inhabits the body of a 70-year-old, should just be a kid. Currently he's obsessed with baseball, school and drums, and when a new friend informs him he has no hair, he says, "Tell me something I don't know. Let's go play." Gordon, in just over five years, has started a tissue bank, raised serious money and lured top scientists into studying her son's disease. In October 2002, she, along with an international team, succeeded in isolating the progeria gene. Progeria, it turns out, is caused by a tiny point mutation in a child's DNA, a one-letter typo in the chromosomal book. But even after that research triumph — the culmination of an 11-month, white-hot burn of constant phone and e-mail conversations — Gordon did not take a break. Sam, she reasons, has no time to waste. A stroke could hit at any time, and the same is true for the more than 50 other kids with progeria whom Gordon has come to know and love. "Somebody called me a barracuda once, and I said thank you," Gordon says. "You can't hand a child a paper saying we found the gene, and here, you're cured. Isolating the gene was the end of Chapter One. We now have a gene that leads to a protein defect that researchers can sink their teeth into. Fantastic labs can ask fantastic questions. We can pull in a lot more terrific researchers, ask better questions and start moving toward treatment."

Taking on the responsibility of finding a cure for your child's rare genetic disease can be both comforting and painful, like all parental obligations, except in this case the stakes aren't seeing a child's soccer game vs. working out, but seeing your child's future birthdays vs. (perhaps) not blaming yourself if you don't.

"You don't want to ever have to tell your kids someday that you didn't try your best," says Brad Margus, a Harvard M.B.A. and the former owner of a Florida shrimp-processing company who switched careers after discovering that two of his four boys had a rare, degenerative disease. "Being a dad, you're expected by your kids to be able to fix anything, right? So they're counting on you to do something about it," says Margus, who is now CEO of Perlegen Sciences, a Silicon Valley biotech firm.

Margus' nightmare started when he and his wife Vicki still had three boys in diapers, and his second eldest, Jarrett, then 18 months, developed difficulty walking and his speech slurred. At first doctors thought the cause was mild cerebral palsy. Then around his 18-month mark, Margus' next eldest boy, Quinn, started developing the same symptoms as Jarrett's, which suggested that the problem was genetic. The boys endured blood tests, spinal taps, muscle biopsies. After spending $60,000 and turning up nothing, the Marguses took their sons to see Dr. Jean Aicardi, a world-famous French neurologist who happened to be visiting Miami Children's Hospital. "In the first five minutes, he saw our kids and said, 'It looks an awful lot like ataxia-telangiectasia,' which we couldn't even pronounce. 'I assume you've tested for this?' All it takes is a $20 blood test. The local doctors just looked at their feet." The Marguses recognized the name (it's pronounced ay-tack-see-uh teh-lan-jick-tay-sha), but all they knew was that A-T was really bad. At home that night they read that about 40% of kids with A-T get cancer by age 12; 100% deteriorate neurologically, so they're in wheelchairs as early as age 8; most die of lung problems or cancer by their late teens or early 20s. "You kind of go through a grief process," Margus says. "Your kids aren't dead, but the kids you thought you had are gone."

Like progeria, A-T is what might be called a superorphaned disease. It affects so few kids — just 400 in the U.S. — that scientists and drug companies don't bother with it. So Margus began applying his business brain to the problem of how to find a cure. He broke it down into smaller problems, assembling a list of things he needed to learn about: molecular biology, how the government funds research, how you capture the interest of top-notch scientists, what lobbying is all about. He decided his approach would be to pollinate as many excellent labs as possible, funding postdocs to work under superstars and hoping that whenever researchers discovered something relevant, they might at least ask themselves, Could this help Brad's kids? "Early on, you're naive enough that you don't know how challenging the problem really is, so you give it a shot." The result? Margus has raised more than $15 million to date, and he funded the research that isolated the A-T-mutated gene nine years ago.

Still, Margus sounds distinctly sad. Sure, he has raised a lot of money and even made a savvy career switch that puts him in regular contact with executives from five of the top 10 pharmaceutical companies. Yet, in his mind, "so far we haven't done squat." His kids, now 13 and 15, are deteriorating daily. This summer he hopes to move his family from Florida to California, where he spends most of his time, but first he will need to retrofit a house "for two teenagers in power wheelchairs who can't control their motor skills very well, so they take out huge chunks of drywall." When his boys ask their father about his work, Margus is honest. "Quinn is quite tough on me," Margus says. "He asks what those researchers are doing. And candidly, I have to say that we've failed. We've set up a center at Johns Hopkins, so at least there's one place in the world that's accumulating a lot of data on the kids. But as far as a treatment or cure or even slowing the progression of the disease, we still haven't done it."