Tuesday, April 5, 2011

Bubble Boy Disease can be detected

UCSF doctors have developed a test that, using just a drop of blood taken within hours of a baby's birth, can determine whether that child has a rare but potentially fatal immune deficiency disorder.

Without treatment, most babies die from infection when they're just months old. If they survive, they're often destined to a life in isolation. Severe combined immunodeficiency disorder, or SCID, is also known as the "bubble boy disease," after the famous case of a Texas boy who lived most of his 12 years in large, plastic bubbles to protect him from infection. He died in 1984.


If babies are diagnosed within weeks of birth, they can get a bone marrow transplant that will let them grow a new immune system to replace the faulty one, essentially curing the disease.That's why doctors are trying to get the blood test added to the state's newborn screening program, a move that will require legislative approval. Legislation was introduced last month by Assemblyman Richard Pan, D-Sacramento, and a vote is expected this summer.

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