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
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.