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Crusade for a Cure

Battle for gene control

A Need to Know More continued...

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.

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