Doctors were stumped. Tests for meningitis, cancer, a list of other diseases all were negative — yet just days after a sudden high fever sent eight-week-old Anthony James Mingione to the hospital, he died.
An autopsy uncovered the lethal secret: Anthony was born without a working immune system. A rare genetic disorder known as the “bubble boy disease” rendered him vulnerable to the most minor of germs.
Now Wisconsin is about to begin the nation’s first experiment at testing newborns for this killer, officially named SCID (Severe Combined Immune Deficiency), in hopes of giving babies like Anthony a chance at lifesaving treatment — even as scientists ask how many infant deaths attributed to infections really might be due to the immune destroyer.
Babies who are hit with this disease look normal until they get sick. Doctors are more concerned than ever that a lot of these babies never make it to the pediatrician, much less an immunologist.
Between 40 and 100 U.S. babies are estimated to be diagnosed each year with SCID. The best-known victim was Houston’s famous “bubble boy” who lived in a germ-proof enclosure until his death at age 12 in 1984.
“We think there’s a lot more out there and that the infants just die,” says Dr. Jack Routes, a pediatrician at Children’s Hospital of Wisconsin. He is heading the newborn-screening experiment, with funding from a parents’ advocacy group, the Jeffrey Modell Foundation, that may help answer that question.
Catching the disease before a baby gets sick means a far better chance that treatment is successful, explains Dr. Jennifer Puck of the University of California, San Francisco.
Puck developed the first screening test that promises early diagnosis. This winter, Wisconsin’s state laboratory begins the first phase of its pilot project, practising with Puck’s test on anonymous newborn blood samples. If no problems crop up, later this year Routes and colleagues will begin a study that attempts to screen all Wisconsin newborns for SCID — to see how accurate it really is, and track what happens to those diagnosed.
“I know this will change the course of SCID,” says Anthony’s mother, Tara Mingione of Long Island, N.Y., who has pushed for screening since his death two years ago. “Anthony had absolutely no chance to live unless he was tested at birth.”
Today, all U.S. newborns are tested for a variety of rare but devastating genetic diseases — using a single spot of blood from the baby’s heel a day after birth — to catch the few thousand who need fast treatment to avoid serious problems.
Not yet on that list: SCID and other “primary immunodeficiency” diseases, meaning children are born with faulty immune-system genes. There are different SCID subtypes, but the result is that babies can’t produce important disease-fighting cells called T cells.
Without treatment, they usually die before their first birthday. Bone marrow transplants can provide them with stem cells that take root and begin producing T cells after all, curing some children and greatly extending the lives of others.
There is a reported 95 per cent survival in SCID babies transplanted before they’re three months old — almost always those born to women who know SCID has struck a relative, and thus seek at-birth testing. After that age, survival plummets because the babies are so sick going into surgery.
Moreover, total costs for transplanting a baby shortly after birth are about $100,000 US, Buckley says, compared with bills that can reach $1 million after they get sick.
I cannot understand why only one state is experimenting with these tests. They should have at least 4 states involved in the process to increase their findings and give it’s implementation a better chance.