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.
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
37th state to approve testing, has required screening since
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
literally one of those screening areas where it would save
lives,” Boyle said.
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
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.
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.
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.
Deficiency Foundation and partner organizations were part of a
grassroots effort to incorporate the testing state-by-state.
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.
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.”