Crusade for a Cure
Battle for gene control
From Worried Parents to Focused Crusaders continued...
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."