Tests target ‘bubble boy disease’

OrlandoSentinel.com

Tests target ‘bubble boy disease’

Wisconsin is the first state to screen infants for the immune- system disorder.

Susanne Rust

Milwaukee Journal Sentinel

January 7, 2008

MILWAUKEE

On Jan. 1, Wisconsin started screening all newborns for the immune-system disorder known as “bubble boy disease.”

The state is the first in the nation to screen for severe combined immune deficiency. The screen will be added to the state’s panel of newborn screens, which includes a hearing test.

“This, once again, really establishes the state of Wisconsin as being such a progressive state,” said John Routes, professor of pediatrics at the Medical College of Wisconsin.

The state now tests for 48 disorders, well above the federal government’s recommendation of 29.

SCID is considered rare. One study showed that fewer than one in every 100,000 newborns has the disease. But because there have been no screening programs to evaluate the true incidence, experts suspect many more children might have it — and might be dying of SCID infections before being diagnosed.

Routes said some cases of sudden infant death syndrome might be the result of this immune disorder.

“There is no hard data on what the true incidence is in the state of Wisconsin or anywhere,” said Routes, who is also medical director of allergy and clinical immunology at Children’s Hospital of Wisconsin. “But I feel pretty confident it will be higher than one in 100,000.”

The state’s new screening program will provide health officials the first glimpse of the actual incidence.

It might also save many lives.

Successful treatment

According to Routes and others, the disease can be cured by a relatively simple bone-marrow transplant if diagnosed within the first weeks or months of a child’s life. If identified early, children can be treated with a 95 percent success rate.

Last January, the Wisconsin State Laboratory of Hygiene, Children’s Hospital of Wisconsin and the Jeffrey Modell Foundation initiated a pilot program designed to test the methods and feasibility of a statewide SCID screening. Ten thousand anonymous samples were tested during the past year.

‘Outstanding dedication’

At the time the project was initiated, officials estimated that statewide screening would begin in five years. But the success of the pilot program has led to a quicker-than-expected launch of the statewide screen.

“The outstanding dedication demonstrated by everyone involved is the reason we have progressed to the next phase at a record pace,” says Ronald Laessig, director emeritus of population health studies at the State Laboratory of Hygiene, in a news release.

SCID represents a cluster of rare, often fatal, congenital disorders characterized by little or no immune response. The disease causes a defect in white blood cells — the cells that fight off infection from viruses, bacteria and fungi. Without a properly functioning immune system, children and adults with the disorder are often fatally vulnerable to disease.

The disease received widespread attention in 1976 with the film The Boy in the Plastic Bubble, starring John Travolta. The made-for-TV movie was based on a true story of a boy with SCID who died at age 12 after spending his life isolated in a plastic bubble.

According to Routes, SCID is often not detected in children until they are at least a few months old. That is because newborns are protected for several weeks by antibodies they receive from their mothers.

Although not every child with SCID is diagnosed, those who are tend to suffer from frequent infections and might not grow as they should.

The new screen is still on “probation,” Routes said. Although all babies in the state will be tested, the funding is coming from Children’s Hospital and the Jeffrey Modell Foundation. Once the test has been up and running and proven effective, it will be officially added to the panel.

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