FEATURING: Dawson, Edgar, Wisconsin

Vicki and Fred Modell, Co-Founders, Jeffrey Modell Foundation


For the past 50 years, state newborn screening programs have been effectively identifying and providing appropriate follow-up for the four million infants born in the United States annually. Each American newborn receives a blood screen within 48 hours to identify genetic or metabolic disorders. More than 12,000 babies have a positive result. When treated immediately, serious long-term health consequences such as intellectual disability, organ damage, and even death are avoided—consequences that often result in millions of dollars in medical expenses.i Indeed, early detection, diagnosis, and intervention are essential to a child’s survival.

Severe Combined Immune Deficiency (SCID) or “bubble boy disease” is one of the most critical of the roughly 200 immune deficiency disorders. SCID requires immediate treatment, usually with a bone marrow transplant, to avoid serious and life threatening infections such as pneumonia, meningitis or bloodstream infections within the first few months of life.ii

SCID is the most serious primary immunodeficiency disorder—an undiagnosed baby dies of SCID every week—and yet, until recently it had not been included on the core panel for universal screening of all newborns in the United States.iii In 2010, the Secretary of the Department of Health and Human Services (HHS) approved the unanimous recommendation of an Advisory Committee to add SCID to the panel of disorders that states should identify and provide follow-up treatment as part of their newborn screening program.

When the new test was piloted in Wisconsin, a baby named Dawson was born in Edgar, Wisconsin; population 1,400. He had SCID; was identified through newborn screening; received a bone marrow transplant, and today is cured. As his mother told the Secretary’s advisory committee,

It’s scary to think that if Dawson had been born just 6 months earlier, he might not be with us today… A drive from our home takes only about 2 hours to Minnesota, or Michigan, or Iowa, or Illinois. None of those states currently screen for SCID. What if we chose to live just two hours away? We would not have our beautiful son, Dawson.


Three years later, a child’s birthplace too often determines whether or not they will be screened for SCID. Since being added to the recommended panel in 2010, SCID has only been incorporated into the newborn screening programs of twenty states (see map). At current levels of state involvement, nearly 1.4 million babies born this year will not be tested. Funding constraints caused by budget cuts, including sequestration, have stalled progress. Only increased federal funding can help states speed adoption.

Unfortunately, since 2010 the principal federal funders of newborn screening—Centers for Disease Control and Prevention (CDC) and Health Resources and Services Administration (HRSA)— have seen core budget cuts of 15 percent and 22 percent, respectively. These agencies lack the resources to enhance state laboratory infrastructure and provide initializing services that increase the successful implementation of SCID through pilot studies in state newborn screening programs. With just a few million dollars in seed funding, states could develop the appropriate laboratory infrastructure and program capacity for newborn screening. This funding would ultimately lead to self-sustaining screening programs for SCID and would provide a model for future newborn screening tests that are developed. The absence of this minimal federal support means that more babies born with SCID will not be detected and that they and their families will experience the significant treatment expense–and tragedy—that is associated with SCID.

Newborn Screening in the US


There is a better way, and it involves the investment of modest amounts of federal funding. But as long as budget constraints continue, families are left with no reason to expect any improvement in the rate at which states successfully include SCID in their newborn screening programs.

Fred and Vicki Modell of the Jeffrey Modell Foundation—named in honor of their son, who died from complications of a genetic condition—led the fight for SCID’s inclusion in the newborn screening panel. The Modells have dedicated their lives to early diagnosis, meaningful treatments and, ultimately, cures to genetic conditions through newborn screening and research. According to Fred:

11,000 babies were born in the United States on the day I testified before the Secretary’s Advisory Committee in 2010. Today, more than three years later, 3,800 of them will be born in the states that still do not screen for SCID. They will be the unlucky ones. They will not be diagnosed, treated, often cured and at least have a chance at life.

Association of Public Health Laboratories

i. Shapira, S. “CDC Commentary: The Critical Importance of Newborn Screening and Follow-up.” Medscape. Downloaded Sept. 19, 2013. Available at: http://www.medscape.com/viewarticle/725824

ii. “Newborn Screening Can Help Prevent Problems In Life.” Centers for Disease Control and Prevention. Downloaded Sept. 19, 2013. Available at: http://www.cdc.gov/features/Screeningnewborns/

iii. “Newborn Screening Increases Survival Outcome for Patients with Severe Combined Immunodeficiency.” American Society of Hematology. January 27, 2011. Available at: http://www.hematology.org/News/2011/6344.aspx