Sept. 15, 2000 -- At first glance, the Terry family of Massachusetts doesn't seem either formidable or unusual. Sharon is a short woman with a master's degree in religious studies. Her husband, Patrick, is a soft-spoken engineer who runs a construction company and carries a Palm Pilot and beeper on his belt. Elizabeth, age 12, looks like her dad and loves Harry Potter; her brother Ian is a gregarious 11-year-old who likes to hang out at the beach with his pals. They live in a small house on a shady corner in a sleepy suburb of Boston.
But take a walk through the Terry's kitchen and you'll see a back room jammed with files, phones, faxes, and computers. Look closely at Elizabeth and Ian and you might notice a series of small red bumps on their necks and faces -- the only sign that they are afflicted with a genetic disorder called pseudoxanthoma elasticum, or PXE. And ask Sharon or Pat about PXE, and you'll find out why they've turned their house into a war room and themselves into savvy activists who almost single-handedly have pushed this disease onto the research radar.
The Terry children were diagnosed with PXE in 1994, when Sharon took Elizabeth, then 7, to a dermatologist to check out a rash on her neck. Ian, then 6, came along for the visit. Before the appointment was over, Sharon learned that one -- and probably both -- of her children had this mysterious and dire disease. The doctor had no idea how it would progress or how serious its implications would be.
"All I heard was two big words, the first one with 'oma' in it," Sharon says. "And then the doctor was looking at my son and telling me he probably had the same thing."
As Sharon and her husband soon learned, PXE is a rare genetic disorder that affects connective tissues throughout the body, resulting in skin lesions and sometimes causing dramatic degeneration of vision. It's also been linked to heart attacks and, in some cases, premature death. At the time the Terry children were diagnosed, the disorder was thought to strike one in 100,000 people, and with frequently fatal results. (Experts now think the disease is both more common -- and less deadly -- than originally believed, striking between one in 25,000 and one in 50,000 people.)
A Stunning Diagnosis
For the Terrys, this was stunning news, and like many families facing a health crisis, they wanted more than support -- they wanted a cure. But instead of waiting passively for answers, they took action, setting up their own nonprofit organization, PXE International, to get the process moving. In just four years, they've raised tens of thousands of dollars, established an international database, and recruited more than 1,000 patients in 36 countries to donate tissue samples for research, as well as the scientists to study them.
The Terrys have also made legal news. Beyond getting studies underway, they wanted a say in how the results might be used. So they did what only a handful of other patients have done before: They negotiated for a share of the patent rights and drug profits that might come from the samples their children and other patients provided. And they drafted contracts that gave PXE International a voice in the research it was helping to create.
In taking these steps, the Terrys showed a level of shrewdness that's almost unheard of among consumers, says Mary Davidson, executive director of the Genetic Alliance in Washington, D.C. "Sharon and Pat knew what they wanted, and they figured out how to accomplish it."
This year, their efforts hit pay dirt when researchers -- working with this donated tissue -- identified the gene that causes PXE, a finding that could lead to the development of a screening test that can identify carriers of the gene. This kind of speed in the lab is all but unheard of, Davidson says. "But the Terrys have that combination of creativity and enthusiasm that can push the system into overdrive," she says.
From Worried Parents to Focused Crusaders
From the day of that first appointment in 1994, the Terry family has been on an emotional roller coaster. Their first response was to read everything they could find about the disease, emerging with a slanted and scary picture. "As soon as we got the diagnosis, we opened the Merck Manual and read about PXE," says Pat. "It was horrific: certain blindness, early death." They also started dealing with the psychological pain that faces any parent in this situation, including the misplaced guilt that can go along with passing on an inherited disorder.
They also learned, though later, that one in every 40 to 70 people carries the PXE gene. Because the gene is usually recessive, carriers -- those with one copy of the PXE gene and one normal one -- have no symptoms. Therefore, most people, including the Terrys, don't know they have it. But when two carriers come together and have a child, that child faces a 25% chance of developing the disorder.
Instead of being discouraged by their misfortune, the Terrys were galvanized. Determined to unravel the mystery of PXE, Sharon and Pat went to the library and photocopied every available paper (450 in all), armed themselves with medical dictionaries and plenty of coffee, and started studying. "It was quite a production," says Pat. "Neither of us has a medical background, so we had to look up every other word."
A Need to Know More
With all that information came a revelation. "We realized that despite all these dire reports, we really didn't know much about PXE." And that, they decided, had to change -- by getting medical researchers to pay attention to this understudied ailment.
The Terrys proved to be quick studies in understanding the politics of research -- and how to get on the scientific agenda. "We knew we couldn't just walk into a research facility and beg or demand that they look into PXE," says Pat. So they did the groundwork themselves, collecting patient data and tissue samples. Within a few months, Pat and Sharon had personally visited 24 countries, collected over 1,000 tissue samples from PXE patients -- and drained their savings in the process. They made masterful use of the Internet, contacting patients and researchers via e-mail and digging through online medical databases.
Their next step was to court researchers, offering the material they'd collected as the carrot. As they wooed, they also negotiated for future rights. "Traditionally, the research process asks people to hand over their tissues and personal information with nothing in return," Sharon says. "We wanted a say in how the material is used because it affects us so profoundly."
The contracts negotiated by the Terrys state that if a lab has success with any of the materials provided by PXE International, the group will be named in the patent applications and will have a share of any profits made from the discoveries. The researchers also had to agree to make available to future patients the next hoped-for breakthrough -- a screening test to identify carriers of the PXE gene.
To Mary Davidson, executive director of the Genetic Alliance in Washington, D.C., the Terrys' work has made an impact far beyond PXE, serving as an example to other groups and bolstering research on genetic disorders across the board. "We're finding out more and more about how genetic disorders are linked to many other conditions," she says. "Research in any area of genetics has huge implications for everyone."
Getting in Line at the Deli
But perhaps the biggest lesson lies in the Terrys' approach to the medical research establishment. "I see the health care system as a deli," says Pat. "You can't just stand around quietly and wait to be called. You've got to grab a number, know what you want, and get to the front of the line."
Today, the state of knowledge about PXE has improved a great deal, in large part because the Terrys' efforts have greatly increased the number of cases in the medical literature. Most importantly, experts now know that having the disease does not amount to a guarantee of early death. "There are millions of people with PXE who have no complications or very mild ones and will live a normal lifespan," says Lionel Bercovich, MD, the dermatologist who has treated the Terry children and is medical director of PXE International.
As the Terrys continue their medical crusading, they are also working to reestablish a normal family life. Elizabeth and Ian started school this fall, their first time in a traditional classroom (they'd been schooled at home since the diagnosis, in part because of the hectic travel schedule the family had adopted). Elizabeth is particularly happy about this, Pat says, because she's keen on being an average kid. "She rather talk about girl stuff than about testifying before Congress," he says.
And after a brief pause to celebrate the discovery of the gene, Pat and Sharon have set their sights on the next step in the PXE research: understanding the mechanism behind that gene. Armed with that information, they hope, people like Ian and Elizabeth will be able to manage their disease and scientists are a step closer to developing a cure.
. Martha Schindler is a freelance health writer in Cambridge, Mass., who writes regularly for Cooking Light, Runner's World, Walking, and other publications.