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
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