"Bubble Boy" disease is more common than researchers once believed.
Also known as severe combined immunodeficiency (SCID), the disease destroys a baby's immune system. In most cases, if the baby catches an infection, it can be fatal.
New techniques in newborn screening, published in the Journal of the American Medical Association, provide a way for physicians to detect the disease and get the baby the help he or she needs before the disorder takes hold of the immune system.
Public awareness of the disease stemmed from a boy who was born without an immune system, David Vetter. Vetter lived in a sterile plastic bubble until he died at age 12.
Now, however, babies who get treatment for this disorder have a 90 percent survival rate.
"Before there were good treatments, he had to spend his life in a germ-free environment," said Dr. Jennifer Puck, a pediatric immunologist, said of Vetter. "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."
There are many treatments for SCID, one of the most common is gene therapy or a bone marrow transplant from a healthy donor.
However, early detection and screening for SCID is important since in 80 percent of SCID cases, there is no family history. The disease is only observed when an infection develops.
The study revealed through newborn screenings that the disease is not one in 100,000 as was previously thought. Instead it is almost twice as common at one in 58,000.
"That indicates that before screening or in the states that are 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," Puck said.
Currently, only 23 states screen for SCID in newborns.
Screening newborns also saves money, said Marcia Boyle, founder of the Immune Deficiency Foundation.
"This study is one more key piece of evidence documenting the importance of SCID newborn screening, which allows SCID to be detected and treated before babies risk serious infection and death," Boyle said. "Newborn screening not only saves lives but is also cost effective, saving an estimated $500,000 to 4 million per infant diagnosed."
