‘Bubble Boy’ Disease is more Common than Previously Thought, Study Reveals
A rare disease that cripples a newborn's immune system might be more common than previously thought, a new study reported. According to researchers, severe combined immunodeficiency (SCID), dubbed "Bubble Boy" disease, is two times more common than experts believed.
"People were made aware of this condition by the boy in the bubble, who was born without an immune system," said study author Dr. Jennifer Puck, a pediatric immunologist at Benioff Children's Hospital at the University of California, San Francisco, reported by Philly. "Before there were good treatments, he had to spend his life in a germ-free environment. But since that time, there are treatments available for every baby born with this, as long as treatment can be started before they get fatal infections."
Dr. Puck was referring to David Vetter who was born in Texas of 1971. Vetter did not have an immune system and was forced to live inside a bubble to reduce his risk of getting infections. Vetter died at the early age of 12. Since that time, screenings for the disease have increased across the nation with 23 states actively screening all newborns for SCID.
"Screening for SCID has picked up a lot of cases that otherwise would not have been detected and has saved lives," said Dr. Puck, who designed the SCID screening test. "Before we just had to guess at the number of SCID cases."
In this study, the team examined data on more than three million newborns that were screened for the disease in 10 states and the Navajo Nation. The infants were born between January 2008 and July 2013. There were a total of 52 babies diagnosed with SCID. 49 of them had been treated with 45 infants responding well to the treatments. Three infants died prior to receiving care and four passed away during treatment.
SCID is a part of a group of diseases that are caused by defects in the genes responsible for combating infections. The disease typically manifests within the first few months after birth. When detected early on, treatments, such as gene therapy or a bone marrow transplant, can restore the infant's immune system. When left untreated, it can lead to death. In around 80 percent of the cases, SCID is not linked to one's family history, which is why screening all newborns is important. With more screenings, researchers can have a clearer understanding of what the incidence rate for SCID is.
"We guessed it was one in 100,000, but this study shows it's twice as common [one in 58,000]," Puck said. "That indicates that before screening or in the states that are still not screening, babies are being missed and they're dying of infections because no one realized that they had a problem with their immune system."
Dr. Neil Holtzman, a professor emeritus in the department of pediatrics at Johns Hopkins University in Baltimore, added in an accompanying editorial, "Greater standardization of the newborn screening test for SCID is needed. The test and follow-up must be conducted in a timely manner to save lives. However, newborn screening in the United States is not keeping pace with advances in technology."
The study, "Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States," was published in the Journal of the American Medical Association.