The families of every child born in the U.S. will soon know whether their newborns are at risk of having a life-threatening immune disorder sometimes known as “bubble boy” disease, as every state now requires screening for the condition.
The Towson-based Immune Deficiency Foundation has spent the last decade pushing for universal screening for severe combined immunodeficiency. Louisiana became the final state to require newborns be screened for severe combined immunodeficiency this week.
Maryland, the 37th state to approve testing, has required screening since 2016.
While a separate diagnosis is required to confirm a child has SCID, John Boyle, president of the Immune Deficiency Foundation, said screenings are a step toward speedy diagnoses and treatment.
“This is literally one of those screening areas where it would save lives,” Boyle said.
Children with SCID are vulnerable to life-threatening infections because they lack the T-cells and antibody immunity that help fight infections viruses, bacteria and fungi. Babies with SCID often appear healthy, and in the past many families would not find out a child had the disease until their infant was seriously ill.
“Families are not going to see that in the future,” Boyle said. “That is a thing of the past.”
SCID can be treated with bone marrow transplants, enzyme replacement or gene therapy. Treating the condition before infections occur is vital to patients’ longevity.
The condition is also known as “bubble boy” disease, named for David Vetter, a child in Texas who had SCID and spent his life in protected enclosures to prevent infection before he died at age 12 in 1984.
In 2008, Wisconsin became the first state to screen for SCID, and the U.S. Department of Health and Human Services began recommending SCID tests be included in health screenings for newborns in 2010.
The Immune Deficiency Foundation and partner organizations were part of a grassroots effort to incorporate the testing state-by-state.
The Immune Deficiency Foundation will now turn its attention to ensuring quick diagnoses and treatment are available to infants who may have SCID, particularly for people who live far from major medical centers and those whose insurance does not cover specialist visits, Boyle said.
“Everyone is going to attempt to do all that they can seeing that there is a baby with a life-threatening condition here, but days matter, weeks matter,” Boyle said. “Making sure that happens as quick as possible and speeding up time to accurate diagnosis and treatment now becomes the goal.”