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Crusade for a Cure

Battle for gene control

A Stunning Diagnosis continued...

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.

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