Wisconsin now screens all newborns for severe combined immune deficiency

Jan 4 2008

Wisconsin became the first state in the nation to screen all newborns for Severe Combined Immune Deficiency (SCID).

Sometimes known as "Bubble Boy Disease," SCID is a genetic disorder that is fatal without early diagnosis and treatment. Babies diagnosed can be referred for potentially life-saving treatment.

The Wisconsin Department of Health and Family Services approved moving to phase two of the pilot screening program in which screening for SCID will be routine for all newborns in Wisconsin (estimated at 70,000 annually). The screening has been added to the current panel of 47 other tests that are given to newborns.

The pilot program began one year ago as a collaborative effort between the Wisconsin State Laboratory of Hygiene at the University of Wisconsin-Madison, Children's Hospital of Wisconsin in Milwaukee and the Jeffrey Modell Foundation. Phase one involved developing a procedure using residual, unidentified blood specimens from Wisconsin's nationally recognized newborn screening program.

"The collaboration between the State Laboratory and Children's Hospital has advanced Wisconsin's health care for newborns at a rapid pace. The outstanding dedication demonstrated by everyone involved is the reason we have progressed to the next phase at a record pace," said Ronald H. Laessig, PhD, emeritus director and professor of Population Health Sciences at the State Laboratory of Hygiene, UW-Madison.

"This complex disease can be cured with a bone marrow transplant if diagnosed early before serious infections develop. That is why the early detection and treatment of SCID through routine screening in newborns will save lives. The screening also will spare infants' repeated and prolonged hospitalizations and save millions of dollars in health care costs. We believe that the Wisconsin Newborn Screening Program will serve as a blueprint for newborn screening in other states, spurring testing to save the lives of infants throughout the nation," said Jack Routes, MD, medical director of Allergy and Clinical Immunology at Children's Hospital of Wisconsin.

The Jeffrey Modell Foundation and Children's Hospital are providing the initial funding for this multi-year pilot. The foundation is a non-profit organization established by Vicki and Fred Modell in memory of their son Jeffrey who died at age 15 from a Primary Immunodeficiency (PI). SCID is one of 140 PI diseases. The pilot, which continues through 2010, will evaluate the effectiveness and outcomes of early testing for SCID. Once the pilot reaches completion, investigators hope for a rapid acceptance of the screening nationwide.

"The workshop held just about a year ago generated results far beyond anyone's expectations. The Jeffrey Modell Foundation identified newborn screening of SCID as a primary focus of its efforts and has now created a unique federal, state and private collaboration. We are committed to their vision that all newborns will be screened for SCID in a system where true cases are identified promptly and treated effectively," said Dr. Robert Vogt of the Newborn Screening Branch of the CDC Division of Laboratory Sciences.

U.S. Congress weighs in

In a related development, Congress just passed the first federal legislation funding newborn screening for SCID. Under the program, states will be able to apply for grants from the Centers for Disease Control and Prevention to set up pilot programs specifically for the purpose of screening for SCID.

"These developments are moving faster than Vicki and I could have ever imagined," said Fred Modell, co-founder of the Jeffrey Modell Foundation. "We now have eight to 10 states considering a pilot program to screen for SCID. We have federal funding, and cooperation by the CDC and National Institutes of Health. The state of Wisconsin is leading the way with accurate screening protocols." Vicki Modell, Modell Foundation co-founder, added, "We are closer to that day when we will bring a family and their newborn baby to Washington and let our lawmakers know how they have directly saved the life of this baby and so many babies in the future. This is very exciting."

The Boy in the Bubble: About SCID

SCID is the most lethal version of all primary immunodeficiency diseases. It often is called "Boy in the Bubble" after the movie of the same name that starred John Travolta, the true story of a boy with SCID who died at age 12 after spending his life in a plastic bubble because he was so vulnerable to infection. SCID causes a defect in the white blood cells that helps protect the body from viruses, bacteria and fungi. Doctors know that SCID is the result of a mutation in one of at least 12 genes, and bone marrow transplants are presently the best treatment.

About Jeffrey Modell Foundation

The Jeffrey Modell Foundation (JMF) was established in 1987 by Vicki and Fred Modell, in memory of their son, Jeffrey, who died from complications of Primary Immunodeficiency at the age of 15. JMF is a multi-faceted global nonprofit foundation devoted to the early and precise diagnosis, meaningful treatments, and ultimately cures of PI, and is focused on physician education, public awareness, and clinical and basic research to better understand and treat these Immunodeficiencies. To date, there are 36 Jeffrey Modell Research and Diagnostic Centers in the U.S., Canada, Europe, Middle East, South America, and Asia.