Jack Routes, M.D. Medical Director, Allergy/Immunology, Children’s Hospital of Wisconsin

Thanks to the efforts of Jack Routes and a host of others at Children’s Hospital, the State of Wisconsin has implemented a pioneering screen for newborns that detects severe combined immunodeficiency disease (SCID).

A baby born with SCID — also known as “Bubble Boy” disease after the film that starred John Travolta — will die within the first year of life if not properly diagnosed. If SCID is identified early, a bone marrow transplant can be performed, resulting in a 95-percent cure rate, says Routes, medical director for allergy/immunology at Children’s Hospital. Experts believe that SCID is responsible for many unexplained infant deaths.

Working in conjunction with the state hygiene lab, Routes and his team at Children’s Hospital raised money to develop the clinical trial needed to implement the SCID screen. The pilot for the screen was started in January 2007. It was so successful in proving its accuracy that the State of Wisconsin agreed to implement universal testing one year later.

While complete results won’t be released until the calendar year is over, the screen has already targeted at least one confirmed case of SCID, which resulted in a bone marrow transplant.

“We think that we will save lives,” Routes says. “This is extremely cost-effective. The infants that aren’t identified are very sick and will spend weeks in the hospital. Literally millions will be spent on their care, and they will die. The goal is to identify them so that their treatment will be a fraction of the cost.”

The Children’s Hospital SCID screen is believed to be the first of its kind worldwide. The conservative estimate is that somewhere between one in every 50,000 to 100,000 babies are born with SCID.

“A lot of people were involved in developing this test,” Routes said, crediting the immunology lab at the Medical College of Wisconsin along with fundraising help he received from both the Jeffrey Modell and the Children’s Hospital foundations.

“It has been a very interesting experience, and it’s evolving,” he said. “We have had to develop a variety of ways to deal with abnormal (test) results. It will take a few years of this program to get an idea of what (the incidence of SCID) really is.”

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