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Question by sepia: Can you enlighten on the bubble boy disease?

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Answer by krishnamurthy
Simple newborn test developed to detect ‘bubble boy disease’
By ERIN ALLDAY, San Francisco Chronicle

Last update: March 18, 2011 – 9:34 PM

SAN FRANCISCO – University of California at San Francisco doctors have developed a test that, using just a drop of blood taken within hours of a baby’s birth, can determine whether the child has a rare but potentially fatal immune deficiency disorder known as “bubble boy disease.”

Without treatment for severe combined immunodeficiency disorder (SCID), most babies die from infection when they’re months old. If they survive, they’re often destined to a life in isolation. The disease was made famous by a Texas boy who lived most of his 12 years in large, plastic bubbles to protect him from infection. He died in 1984.

If the disease is diagnosed within weeks of birth, doctors can perform a bone marrow transplant that will let the baby grow a new immune system to replace the faulty one, and essentially cure the disease. That’s why doctors are trying to get the test added to the state’s newborn screening program, a move that will require legislative approval. A vote is expected this summer.

“Some other states are getting on board, and they may be doing it kicking and screaming, because they don’t have an extra dime to spend. But it’s so important from a medical point of view, and we believe it’ll be cost-effective,” said Dr. Jennifer Puck, a pediatric immunologist with UCSF Benioff Children’s Hospital who developed the screening test. “These babies, when they come in with infections, they have a million hospital bill before they even get the transplant,” she said. “With screening, we’ll get useful, healthy citizens.”

In many states, including Minnesota, blood is drawn from newborns hours after birth to screen for more than two dozen types of diseases, including sickle cell anemia and phenylketonuria, or PKU, a metabolic disorder that can cause mental disabilities.

Diseases are screened only if they can be treated, and only if it’s important that treatment be started as early as possible to avoid permanent damage or death. In the case of SCID, it’s crucial that babies get a diagnosis before they’re exposed to even the tamest virus — the common cold can be deadly to them. In fact, an infant vaccine for the rotovirus includes a weak but live virus that can cause serious illness in babies with SCID.

The screening tests cost about 0 per baby, and are usually covered by insurance. The SCID test would add another few dollars, Puck said.

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