Frustrated with the slow pace of implementation of newborn screening for Severe Combined Immune Deficiency (SCID), Vicki and Fred Modell decided to coordinate and fund the effort themselves. They have announced a multi-million dollar commitment to screen every baby born in every state for this life threatening condition, often referred to as “bubble boy disease.”
The Modells established the Jeffrey Modell Foundation (JMF) 25 years ago in memory of their son Jeffrey, who lost his battle with Primary Immunodeficiency (PI) at the age of 15. There are more than 150 genetic defects that are classified under the umbrella of PI. The NIH estimates that at least 500,000 Americans are affected and most are undiagnosed. SCID is the most serious of the disorders and is characterized by experts as a “Pediatric Emergency.”
Babies born with SCID fail to develop a functional immune system. They appear normal and healthy at birth, causing delayed diagnosis until they are repeatedly hospitalized for life threatening infections. Undetected and untreated, SCID leads to death before the baby’s first birthday.
But with Newborn Screening, they can now be diagnosed and then cured with a bone marrow transplant. The cost of the screening test, called TRECs, is $4 per baby. To date, the Jeffrey Modell Foundation has contributed over$3 million towards programs of Newborn Screening.
Affected babies with SCID are already being identified, transplanted, and cured in several states, including California, New York, Wisconsin, Massachusetts, and Louisiana. Overall, only 50 percent of all babies born in the United States live in states that screen for SCID or have stated their intention to screen if funding is available.
Mike and Missy Bornheimer were lucky enough to have lived in Wisconsin (the first state to screen). Her baby, Dawson, was born with SCID and was screened, diagnosed, treated, and cured and now is a healthy three and half year-old boy. Missy offered Testimony to the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children in Washington, D.C. on January 21, 2010.
The Committee voted the same day to recommend adding the SCID test to the core panel of newborn screening tests. Health and Human Services Secretary Kathleen Sebelius approved the recommendation shortly thereafter. ”Two years later, we are just approaching halfway to completing our mission so that every baby in every state can be screened for this fatal disease and those afflicted can be cured,” according to Fred Modell. “We have not raised all of the funds as yet, but we are confident.”
Vicki Modell added, “We have heard from too many grieving parents whose babies were tragically lost to SCID. But now that we can screen and cure babies that are affected, we just can’t stand by for another day, and watch precious babies die. We will be offering funding to every state that implements a Population Screening Program for SCID. This is an historic journey and we hope to wipe out this fatal disease forever.”