Crusade for a Cure
Battle for gene control
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.
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.