Hopkins clinic fights a killer Deadly disease: At the Johns Hopkins Children's Center, a new clinic deals with ataxia telangiec-tasia, an inherited disorder usually fatal to children.

January 02, 1996|By Jonathan Bor | Jonathan Bor,SUN STAFF

They walk with a staggering gait, feet spread and torsos swaying as if someone had spun them into a state of dizziness. First comes a diagnosis of cerebral palsy, a label that seems right until other puzzling symptoms appear.

In the first few years of life, the children develop abnormal skin pigmentations, lung infections and slurred speech. They have trouble tracking objects with their eyes. And in many cases, they are beset by aggressive cancers.

A confusing journey through specialists eventually brings parents to a correct diagnosis: ataxia telangiectasia (tel-AN-jek-TAY-sha). In 1995, the Johns Hopkins Children's Center became the first medical institution in the nation to establish a clinic devoted to its diagnosis and treatment.

AT is an inherited disorder that usually kills children by their teens, although some manage to live longer. There isn't anything doctors can do to cure it, but there is much they can do to educate parents and to suggest therapies that can make life easier for the afflicted.

Patients have been trickling into the center at a rate of about one a week since it opened July 1. By now, its directors, Dr. Jerry A. Winkelstein and Dr. Howard M. Lederman, likely have accumulated more experience with AT than has anyone else in medicine.

"It is impossible to say how many patients there are in the country, probably no more than a thousand," Dr. Winkelstein said. "The chance for any physician to be able to give advice and treatment is very low when they only see one in their lifetime -- if they see any.

"The point of the clinical center is to give patients from all over the U.S. the chance to come to a single institution where people have had experience with the disorder and are current in its management and diagnosis."

Doctors hope that as their caseload builds, they will make new discoveries about the disease.

Already, they have noticed that poor neurological control causes many children to inhale bits of food into their windpipes.

This, in combination with the youngsters' depressed immune systems, may be responsible for some of the severe lung infections that strike patients.

"Therapy to cut down on the aspirations to the lung could improve the quality and length of life without doing anything to [defeat] the genetic defect," Dr. Lederman said.

The center's opening roughly coincided with the identification at Tel Aviv University in Israel of the defective gene that causes AT. Children who inherit two copies -- one from each parent -- develop the degenerative illness. Those who inherit one gene have an increased chance of acquiring cancers later in life.

Scientists believe that the defect somehow alters the way cells replicate their DNA in the process of dividing. How the gene produces the diverse symptoms of AT remains a mystery.

By studying its mechanisms, researchers hope they will gain a deeper understanding of how cells divide, grow and -- in some cases -- become cancerous.

The discovery could lead to a genetic test that would identify people who face a heightened cancer risk because they are carriers. A test also would yield a sure and early diagnosis for children afflicted with AT.

For now, doctors must have an eye for the telltale cluster of symptoms -- in particular, the two that give the disease its name. Ataxia means imbalance.

Telangiectasia means the dilated blood vessels that cause reddish pigmentations on the skin and eyes. When the two are seen together, it's a good bet the child has AT.

Hopkins is being aided by the neighboring Kennedy Krieger Institute, which is adding its expertise in rehabilitation medicine.

Between the two facilities, children see a bevy of specialists with expertise in cancer, the immune system, neurology and disabilities of speech and movement.

When Jennifer Lane and her 4-year-old son, Jared, returned recently to their home in Buffalo, they took with them a full medical evaluation that their local doctors can use to treat

symptoms that are likely to appear during Jared's lifetime.

Their doctors also can call knowledgeable contacts in Baltimore whenever they run into trouble dealing with a new situation.

"What was really helpful was getting a year's worth of information compacted into one week," Mrs. Lane said.

Doctors also learned that Jared's immune system was still strong enough to respond to vaccines against flu, pneumonia and hepatitis B. Now armed, he should have an easier time warding off those infections.

Jared's history is typical of AT patients.

When he was 18 months old, Jared's pediatrician took one look at his wobbly gait and suspected an ear infection.

When his balance didn't improve after a few months, the doctor guessed he had a type of cerebral palsy, a condition that results from brain injury around the time of birth.

That diagnosis stuck until last November, when an astute dermatologist realized that the reddish blotches above his ears suggested a more dire condition -- AT.

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