Simple newborn test developed to detect ‘bubble boy disease’

Simple newborn test developed to
detect ‘bubble boy disease’

By ERIN ALLDAY, San Francisco Chronicle

Last update: March 18, 2011 – 9:34 PM

SAN FRANCISCO – University of California at
San Francisco doctors have developed a test
that, using just a drop of blood taken within
hours of a baby’s birth, can determine
whether the child has a rare but potentially
fatal immune deficiency disorder known as
“bubble boy disease.”

Without treatment for severe combined
immunodeficiency disorder (SCID), most
babies die from infection when they’re
months old. If they survive, they’re often
destined to a life in isolation. The disease was
made famous by a Texas boy who lived most
of his 12 years in large, plastic bubbles to
protect him from infection. He died in 1984.

If the disease is diagnosed within weeks of
birth, doctors can perform a bone marrow
transplant that will let the baby grow a new
immune system to replace the faulty one, and
essentially cure the disease. That’s why
doctors are trying to get the test added to the
state’s newborn screening program, a move
that will require legislative approval. A vote is

expected this summer.

“Some other states are getting on board, and
they may be doing it kicking and screaming,
because they don’t have an extra dime to
spend. But it’s so important from a medical
point of view, and we believe it’ll be cost-
effective,” said Dr. Jennifer Puck, a pediatric i
mmunologist with UCSF Benioff Children’s
Hospital who developed the screening test.
“These babies, when they come in with
infections, they have a $1 million hospital bill
before they even get the transplant,” she said.
“With screening, we’ll get useful, healthy

In many states, including Minnesota, blood is
drawn from newborns hours after birth to
screen for more than two dozen types of
diseases, including sickle cell anemia and
phenylketonuria, or PKU, a metabolic
disorder that can cause mental disabilities.

Diseases are screened only if they can be
treated, and only if it’s important that
treatment be started as early as possible to
avoid permanent damage or death. In the
case of SCID, it’s crucial that babies get a
diagnosis before they’re exposed to even the
tamest virus — the common cold can be
deadly to them. In fact, an infant vaccine for
the rotovirus includes a weak but live virus

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