Nearly all babies born in North Carolina have their tiny heels pricked before they leave the hospital and a few drops of blood squeezed out. This blood is sent to the N.C. State Laboratory of Public Health. There, tests are done to detect more than 30 conditions. Fortunately, most infants have normal results. But 1 in every 2,800 will have a condition that without immediate treatment may lead to severe intellectual disability (what used to be called mental retardation) or death.
For the last 50 years, the Pediatric Genetics and Metabolism Division at UNC has provided services to infants and children in North Carolina with genetic and metabolic disorders. Not only those identified through newborn screening but those with numerous other genetic conditions causing birth defects, developmental disabilities and autism. Through block grants for women and children from the federal government and state funding, we have been able to take care of these babies throughout their lives, enabling them to become healthy and productive adults.
This is a public health success story. For each baby diagnosed and properly treated, there is a savings of more than $1 million, the amount spent to care for a person with a lifelong disability. This is one of the rare situations where we can actually prevent mental retardation and autism.
Unfortunately, due to budget cuts, this program and others like it around the state are threatened.
We were notified this month that our state contract funds are being cut by 25 percent. This money helps pay for the specially trained dietitians who spend countless hours teaching parents about proper formula and diet management and who make sure that our patients have access to lifesaving formulas and foods, for physicians who diagnose rare conditions and treat children when they become seriously ill, and for genetic counselors who provide information and counseling to patients and their families and help them access appropriate resources and services.
Lack of genetic and metabolic services in North Carolina will force some patients out of state. Others may never make it that far.
While North Carolina has traditionally been a national leader in newborn screening, often one of the first states to begin testing for conditions, we have now fallen behind. Sixteen other states are already screening for SCID (severe combined immunodeficiency, also known as bubble boy disease), but this is not being done in North Carolina. Without early identification and a bone marrow transplant, these children typically die in infancy or childhood.
If you give birth to a baby with SCID in Florida, Michigan or New York, states now screening, odds are that baby will survive. But not in North Carolina.
Providing the financial resources to sustain and expand these services would seem obvious. Sadly, apparently not to all.
Cynthia M. Powell, M.D., is a professor of pediatrics and genetics at the University of North Carolina at Chapel Hill.