Skip to content
    Font Size
    A
    A
    A

    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

    Cross Coverage

    Most people probably don't give much thought to their doctors' free time. But how exactly do they manage busy patient loads and still have weekends and vacations? The answer can affect you and your family's health and well-being. Many physicians belong to a "coverage group": One physician temporarily takes care of all of the group's patients. So from Friday evening until Monday morning -- almost 40% of the hours in a week -- your medical care may well be in the hands of a physician other than your...

    Read the Cross Coverage 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.)

    1 | 2 | 3 | 4 | 5

    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

    disciplining a boy
    Types, symptoms, causes.
    fruit drinks
    Eat these to think better.
    embarrassed woman
    Do you feel guilty after eating?
    diabetes supply kit
    Pack and prepare.
    Balding man in mirror
    Treatments & solutions.
    birth control pills
    Which kind is right for you?
    Remember your finger
    Are you getting more forgetful?
    sticky notes on face
    10 tips to clear your brain fog.
    Close up of eye
    12 reasons you're distracted.
    Trainer demonstrating exercise for RA
    Exercises for your joints.
    apple slices with peanut butter
    What goes best with workouts?
    Pink badge on woman chest to support breat cancer
    Myths and facts.

    Pollen counts, treatment tips, and more.

    It's nothing to sneeze at.

    Loading ...

    Sending your email...

    This feature is temporarily unavailable. Please try again later.

    Thanks!

    Now check your email account on your mobile phone to download your new app.

    Women's Health Newsletter

    Find out what women really need.