NEW YORK (Reuters Health) - “Bubble boy disease” is now part of national U.S. newborn screening guidelines, adopted by Secretary of Health and Human Services Kathleen Sebelius last week.
The disease — formally known as severe combined immunodeficiency, or SCID - was named for David Vetter, a Texas boy who spent his short life inside a sterile plastic cocoon to avoid infections.
By knocking out part of the immune system, SCID leaves untreated babies vulnerable to bacteria, viruses and fungi that other people would easily stave off.
The disease only affects one in about 50,000, but babies left untreated usually die within a year. If they get a bone marrow transplant within a few months, however, they can live at least into their 20s and possibly much longer.
“If you don’t pick it up early these kids will die,” said Dr. Rebecca H. Buckley of the Immune Deficiency Foundation, a national patient organization that has pushed for screening. “This is a really exciting and wonderful development.”
Buckley, also of the Duke University School of Medicine in Durham, North Carolina, did her first bone marrow transplant in 1982. Of the 165 toddlers she has treated, 125 have survived. The oldest is now 28 and finishing her third year of medical school.
The newborn screening panel was first proposed by the American College of Medical Genetics in 2006. It included 29 “core” conditions, such as cystic fibrosis and phenylketonuria, a metabolic disorder that, untreated, leaves kids severely retarded. But the evidence for adding SCID had not been considered sufficient until now.
According to Dr. Rodney Howell, who led the initiative to establish new national guidelines, states have varied widely in their adoption of the newborn screening panel.
But with the backing of Secretary Sebelius, “it will make it much easier for states to adopt it,” said Howell, a pediatrician at the University of Miami.
The price for screening is about $50 per baby, which Howell said was money well spent, because toddlers who don’t get early treatment often end up accumulating large hospital bills.
Screening detects some 12,000 cases every year; while this might not seem like a lot, said Howell, “we are talking about kids who might have died or had serious disability.”
“You don’t have a lot of opportunities to introduce something that really is relatively inexpensive and is life-saving,” he said.