Sept. 15, 2000 -- At first glance, the Terry family of Massachusetts doesn't
seem either formidable or unusual. Sharon is a short woman with a master's
degree in religious studies. Her husband, Patrick, is a soft-spoken engineer
who runs a construction company and carries a Palm Pilot and beeper on his
belt. Elizabeth, age 12, looks like her dad and loves Harry Potter; her brother
Ian is a gregarious 11-year-old who likes to hang out at the beach with his
pals. They live in a small house on a shady corner in a sleepy suburb of
But take a walk through the Terry's kitchen and you'll see a back room
jammed with files, phones, faxes, and computers. Look closely at Elizabeth and
Ian and you might notice a series of small red bumps on their necks and faces
-- the only sign that they are afflicted with a genetic disorder called
pseudoxanthoma elasticum, or PXE. And ask Sharon or Pat about PXE, and
you'll find out why they've turned their house into a war room and themselves
into savvy activists who almost single-handedly have pushed this disease onto
the research radar.
Recommended Related to Health Insurance & Medicare
Under the Affordable Care Act, people with pre-existing health conditions cannot be denied health insurance as of 2014, when the law takes full effect.
WebMD readers submitted a number of questions about this aspect of the law. Here are answers.
The Terry children were diagnosed with PXE in 1994, when Sharon took
Elizabeth, then 7, to a dermatologist to check out a rash on her neck. Ian,
then 6, came along for the visit. Before the appointment was over, Sharon
learned that one -- and probably both -- of her children had this mysterious
and dire disease. The doctor had no idea how it would progress or how serious
its implications would be.
"All I heard was two big words, the first one with 'oma' in it,"
Sharon says. "And then the doctor was looking at my son and telling me he
probably had the same thing."
As Sharon and her husband soon learned, PXE is a rare genetic disorder that
affects connective tissues throughout the body, resulting in skin lesions and
sometimes causing dramatic degeneration of vision. It's also been linked to
heart attacks and, in some cases, premature death. At the time the Terry
children were diagnosed, the disorder was thought to strike one in 100,000
people, and with frequently fatal results. (Experts now think the disease is
both more common -- and less deadly -- than originally believed, striking
between one in 25,000 and one in 50,000 people.)
A Stunning Diagnosis
For the Terrys, this was stunning news, and like many families facing a
health crisis, they wanted more than support -- they wanted a cure. But instead
of waiting passively for answers, they took action, setting up their own
nonprofit organization, PXE International, to
get the process moving. In just four years, they've raised tens of thousands of
dollars, established an international database, and recruited more than 1,000
patients in 36 countries to donate tissue samples for research, as well as the
scientists to study them.