Skip to content
My WebMD Sign In, Sign Up

Information and Resources

Crusade for a Cure

Battle for gene control

WebMD Feature
Reviewed by Craig H. Kliger, MD

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.

Recommended Related to Health Ins & Medicare -- Step 4

Health Care Reform and Preventive Care: FAQ

As a result of the Affordable Care Act, many health insurance plans are now required to pay in full for preventive health services, such as well visits and routine checkups. WebMD readers have asked many questions about preventive care and the services now available as a result of health care reform. Here are answers to the five most commonly asked questions.

Read the Health Care Reform and Preventive Care: FAQ article > >

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.

Hot Topics

WebMD Video: Now Playing

Click here to wach video: Dirty Truth About Hand Washing

Which sex is the worst about washing up? Why is it so important? We’ve got the dirty truth on how and when to wash your hands.

Click here to watch video: Dirty Truth About Hand Washing

Popular Slideshows & Tools on WebMD

hands on abdomen
Can you catch one?
Woman sitting in front of UV lights
Is yours working?
woman using breath spray
What's causing yours?
womans hand on abdomen
Are you ready for baby?
MS Overview
Recognizing symptoms.
bowl of yogurt with heart shape
Eat for a healthy heart.
woman doing pushups
To help you get fit.
Colored x-ray of tooth decay
Know what to look for.
Woman sitting with child
Do you know the symptoms?
mosquito
Stings, bites, burns, and more.
Allentown, PA
Are you living in one?
Thyroid exam
See how much you know.

Women's Health Newsletter

Find out what women really need.