September 1, 2001
WIRED MAGAZINE
The Citizen Scientists (continued)
When Liz was 4, she took an auditory brain-stem response test that revealed something unexpected: a dramatic improvement in her hearing from the previous year. Liz had begun taking growth hormone, and Cody wondered if that single factor could explain the change.
That was in 1989. Cody did a Medline search and hit pay dirt: a 1985 article showing that fetal rat brain cells in culture produced myelin basic protein when fed growth hormone. Myelin is the white matter that insulates the nerves; in people with 18q-, it fails to develop normally, causing poor nerve conduction in the brain and ears, and, Cody suspected, lower IQ.
Cody made an appointment at UT’s Health Science Center, and for two nerve-racking hours she faced a table full of scientists. She explained her theory that growth hormone does more than make kids grow - it improves myelination and hearing problems. What she did not dare say aloud, however, was her suspicion that it also raises overall intelligence.
In two years, the San Antonio scientists had affirmed Cody’s suspicions: growth hormone—in 18q- children, at least—does raise IQ, by as much as 47 points. Now they are hoping to repeat that study with a larger sample of children. They are also looking at how the hormone affects kids like Riley who aren’t technically growth hormone-deficient. Cody’s ultimate goal? To make growth hormone treatments a standard for those diagnosed with 18q-.
Of course, Cody wasn’t thinking about growth hormone or any other treatment when she founded the Chromosome 18 Registry and Research Society. She just decided to start a support group. And in that way, Cody is typical of the accidental activists in the parents’ movement. In fact, her story is strikingly similar to that of Kathy Hunter—the mother who founded the parents’ group that started it all.
In 1974, Hunter had just given birth to a cherubic, dark-haired daughter named Stacie. When Stacie was about 15 months old, she began showing more interest in doorknobs than people, and wouldn’t even blink when a fire engine drove by, sirens wailing. The Hunters had her tested for deafness, but deep down they knew she wasn’t deaf. All they had to do was say “cookie” and she’d come running.
Kathy and her husband, Scott, began searching for a diagnosis, taking Stacie to one clinic after another, hoping to get an explanation for her sudden, uncontrollable rages and drunken, uncoordinated walk. She’d stopped talking, too, except for one word—“Mommy”—and she never did learn to feed, bathe, or dress herself.
In 1983, just when they’d given up hope, the phone rang. It was Mary Coleman, a pediatric neurologist then working at the Children’s Brain Research Clinic in Washington, DC, and known among desperate families across the country as “the give-up doctor.” Coleman was the one you brought your child to after every other specialist told you to give up and move on. She had just returned from a conference in France where, she told Kathy Hunter, she’d heard the case of a child just like Stacie and had a diagnosis.
It was Rett syndrome, a rare neurological disease afflicting mostly girls and characterized by poor muscle tone, autistic-like behavior, and excessive hand wringing. It was first described by a Viennese physician named Andreas Rett, who walked into his waiting room one day in 1964 and saw two girls wringing their hands vigorously.
Stacie, now 27, was the first person in the US to be diagnosed. Hunter began looking for other girls with the disease and started a newsletter—eight pages, handwritten—that she mailed to medical labs, teaching hospitals, parents, and neurologists. By 1986, she was sending her typed report to 2,000 readers. Today, her International Rett Syndrome Association has a mailing list of 15,000 people in 56 countries and 50 states, and the Web site gets 2 billion hits a year—not bad for a disease affecting, by Hunter’s count, roughly 3,500 people around the world. The group has funneled more than $1 million into research since its founding and has lobbied Congress for almost $25 million. New members often report that, upon diagnosis, the doctor had only three words of advice: Call Kathy Hunter.
To parse the genetic components of a disease—say, Alzheimer’s—researchers must collect tissue and blood samples from patients and their families. It takes a substantial sampling—DNA from dozens, sometimes hundreds of families—to establish the genetic basis of an illness. Without DNA, no gene test can ever be developed. Researchers, consequently, are dependent on direct access to patients—not only for their DNA, but also for family histories and, occasionally, the brain tissue of deceased loved ones.
“If you only have a few families, you can’t find the disease gene,” says Uta Francke, president of the International Federation of Human Genetics Societies, and professor of genetics and pediatrics at Stanford University School of Medicine. This means that motivated parents—like Hunter and Cody—can make or break a research effort.
Parent groups have responded by launching blood and tissue drives, in some cases putting raw, unanalyzed medical data online. In other words, the very nature of gene sleuthing has strengthened the position of the Citizen Scientists, leveling the playing field between doctor and patient.
“What happens now is that parents often know more about certain diseases than the health care providers they interact with,” says Francke. “They say, ‘We want to be partners. We can get blood samples for you, but we also want to be involved in the research.’ ”
This new reality is changing the
business of medical research. The marketplace of ideas, traditionally
driven by competition and profit motives, rewards a discovery with a patent
and potentially huge financial gains. But parent groups don’t want
a single person or institution to own the DNA they’ve contributed,
or the findings derived from it. They want collaborative efforts—the
more people at work on a problem, the faster it will be solved.
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Nast Publications Inc. All rights reserved.
Copyright 1994–2001 Wired Digital, Inc. All rights reserved.
