Raleigh, N.C. — State House lawmakers are moving ahead with a proposal to add a test for a life-threatening genetic disorder to the screening panel for newborns in North Carolina.
The additional test would check for Severe Combined Immunodeficiency, or SCID, a genetic defect better known as the "Bubble Boy disease." Babies with SCID lack a functioning immune system, which makes them susceptible to any disease in their environment.
SCID can be treated very successfully with a bone marrow transplant before the baby is 14 weeks old – and before he or she becomes seriously ill. But the condition often isn't diagnosed until months later, when treatment is far less effective. Left untreated, it's almost always fatal.
House Bill 698 is named the "Baby Carlie Nugent Bill" after a Cabarrus County child who died of SCID in 2000. Her mother, Stephanie Nugent, asked the House Health Committee on Wednesday to support the bill.
Nugent said her daughter appeared to be a completely healthy newborn but began contracting common illnesses more frequently as time went on. By the time she was finally diagnosed with SCID, it was too late for the bone marrow transplant to save her. She passed away at 7 months old.
"When babies are born with SCID, time is not on their side," Nugent said. "I am forever haunted by the knowledge that a simple blood test at birth is all that stood in the way of watching her grow up.“
The bill would add $5 to the state's blood testing fee for newborns to offset the cost of the screening. Sponsor Rep. Charles Jeter, R-Mecklenburg, said the state public health lab has already won a grant to pay for the testing machine. The bill appropriates $466,000 in state money for implementation.
The panel also heard from Dr. Rebecca Buckley, a pediatric immunologist at Duke University who specializes in SCID and treated Carlie Nugent. She said performing a bone marrow transplant on a SCID baby diagnosed early through a screening costs about $100,000, while the cost of treating a SCID baby diagnosed later after becoming ill often runs into millions of dollars.
Buckley said 29 states already screen for the defect. Data from those states indicate the defect is much more common than scientists thought – one in 58,000 newborns has it. She said, in many cases, SCID infants may have died of pneumonia or blood infections or other common diseases without ever being diagnosed.
The bill won unanimous support in committee. It must still clear the House Finance Committee and House Appropriations Committee before going to the floor.