Baby's health

Newborns To Be Tested For Immunodeficiency Disease

Newborns with a rare immune disorder, known as “bubble boy disease,” are at risk of death from even minor infections. Doctors are starting a groundbreaking experiment in Wisconsin to test newborns for this deadly disease in hopes of providing life-saving treatment.

It is estimated that between 40 and 100 babies in the US are diagnosed with severe combined immune deficiency (SCID) each year, but experts believe there are many more cases that go undiagnosed. Detecting SCID before a baby becomes sick greatly improves the chances of successful treatment.

Dr. Jack Routes, a pediatrician at Children’s Hospital of Wisconsin, is leading the newborn-screening experiment with funding from the Jeffrey Modell Foundation. Dr. Jennifer Puck of the University of California, San Francisco has developed the first screening test for early diagnosis.

Wisconsin will begin piloting the screening test this winter, and if successful, all newborns in the state will be screened for SCID later this year. The goal is to determine the accuracy of the screening and track outcomes for those diagnosed. Parents of SCID victims, like Tara Mingione, strongly support this initiative after witnessing the devastating effects of the disease.

Currently, newborns in the US are tested for a variety of genetic diseases, but SCID is not included. SCID prevents babies from producing important disease-fighting cells, resulting in a high mortality rate before their first birthday. However, bone marrow transplants can provide stem cells that can produce these crucial cells, extending the lives of SCID patients.

The survival rate for transplants performed before the baby is three months old is 95%, while the cost of transplanting a baby shortly after birth is significantly lower than the costs incurred when the baby falls ill. This groundbreaking newborn screening could change the course of SCID and save countless lives.


About the author

Lisa Arneill

Founder of Growing Your Baby and World Traveled Family. Canadian mom of 2 boys, photo addict, lover of bulldogs, and museumgoer. Always looking for our next vacation spot!

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