Raleigh, N.C. — A bill signed Monday by Gov. Pat McCrory adds another test for newborn babies, one that supporters say will save lives.
The test looks for a genetic defect that disables babies' immune systems that can be treated through a bone marrow transplant within the first three months.
Severe Combined Immunodeficiency Disorder, or SCID, is commonly known as "the bubble boy disease." Stephanie Nugent of Harrisburg lost her 6-month-old daughter, Carlie, to the genetic defect in 2000 and has been working since then to add an inexpensive test for SCID to the battery of tests all North Carolina newborns undergo.
"I started fighting for it the moment that I lost her," Nugent said Monday as McCrory signed the Baby Carlie Nugent Bill into law. "I can't tell you, I felt such a strong calling the day that she died that no other parent should go through this."
Like other SCID babies, Carlie had no symptoms. She seemed normal until she started to get sick – and kept getting sicker. By the time she was diagnosed with SCID, it was too late to save her.
"It's haunting to know that $5 is all it would take to save your baby," Nugent said.
Carlie was one of 176 SCID babies treated by Dr. Rebecca Buckley, a pediatric immunologist at Duke University. Buckley has been pushing for the test too, noting the limited window for correcting the disorder.
"We knew when we looked at the data that, if you could do it before they got sick, you had a much better chance," she said.
A bone marrow transplant before the baby gets sick costs around $100,000, Buckley said, but after the child becomes ill, treatment can cost millions.
Twenty-six other states already require the screening. Data from those states shows that SCID may be more common than doctors first thought, but it may often go undiagnosed. The test will make sure it and other conditions resulting in abnormally low levels of lymphocytes are caught and give North Carolina babies the fighting chance that Carlie never had, McCrory said.
"(Carlie) left us far too early, but I’m proud today, because of her, because of her family, because of her friends, her life – her brief life – has inspired action to help other families across North Carolina so they won’t have to go through this pain and suffering that this family has had to go through," he said. "This is what it's all about. Through loss, making a difference."
"It's really hard to put into words what you feel in moments like this," Nugent said. "There really aren't words to describe, but I am very grateful for all the people who have played a role in making this happen."