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 Boston.
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.
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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.)