Legislators are considering a bill to make testing for immune disorders a mandatory part of North Carolina’s newborn screening process.

UPDATE: Oct. 19, 2015: Gov. Pat McCrory signed the Baby Carlie Nugent Bill into law. Read a press release on the signing here.

By Rachel Herzog

Stephanie Nugent’s daughter Carlie seemed perfectly healthy when she was born in 1999. Eventually though, illnesses brought her to the doctor’s office frequently. Sometimes it was multiple times in one week, sometimes more than once a day.

But no one was really concerned. These were illnesses any infant could have, especially in the middle of winter: bronchitis, pneumonia, ear infections.

Carlie Nugent died at seven months of age from Severe Combined Immunodeficiency. Her mother Stephanie said she always knew that Carlie's life "would mean something." She said she's determined to champion screening for the disease in her daughter's memory.
Carlie Nugent died at seven months of age from Severe Combined Immunodeficiency. Her mother, Stephanie, said she always knew that Carlie’s life “would mean something.” She said she’s determined to champion screening for the disease in her daughter’s memory. Photo courtesy Nugent family.

It wasn’t until Carlie was six months old that Rebecca Buckley diagnosed her with Severe Combined Immunodeficiency (SCID). Due to a genetic immunodeficiency, Carlie was essentially born without an immune system.

SCID is treated with a bone marrow transplant. Buckley, a professor of pediatrics and immunology at Duke University Medical Center, said the treatment is very effective if it can be given before a child develops serious infections.

“If we can do a transplant before a baby is three and a half months of age, then you have a 93 percent survival rate,” she said. “If you transplant when they present it at six or seven months like Carlie did, the chances of surviving are around 69 percent.”

For Carlie, it was too late. By the time she received a transplant, viruses had overcome her body. She died in February 2000.

“I will forever be haunted by knowing that a simple blood test at birth is all that stood in the way of watching her grow up,” Nugent told the House Health Committee through tears Wednesday morning.

Remembering Carlie in law

House Bill 698 would raise the state’s existing $19 newborn screening fee by $5. North Carolina’s fee would remain one of the lowest in the nation; some states require as much as $157 for each birth.

The screening would require the purchase of a new machine for the state laboratory, which will scan blood samples sent from every hospital in the state and return the results in three to five days.

“It’s an assay that has been proven,” said Scott Zimmerman, director of the State Laboratory of Public Health. “There are a number of states that are using that particular methodology.”

Three-quarters of the necessary equipment and implementation costs are already covered by a federal grant the state laboratory received earlier this spring. The bill would appropriate $446,000 to cover the remaining 25 percent of the costs.

More common and more treatable

According to an article published in the Journal of the American Medical Association in August, data from three million babies screened in 11 states showed that the incidence of SCID is one in 58,000.

“Before that, it had been considered to be much more rare, but this is primarily because babies died of pneumonia or meningitis or bloodstream infections,” Buckley said. “They were never diagnosed with SCID.”

She said SCID is probably more common and more treatable than other genetic conditions newborns are already scanned for, which include cystic fibrosis and phenylketonuria.

Stephanie Nugent and Dr. TKTK have kept in touch for years, looking for an opportunity to advocate for better infant testing. Photo credit: Rose Hoban
Stephanie Nugent and Rebecca Buckley have kept in touch for years, looking for an opportunity to advocate for better infant testing. Photo credit: Rose Hoban

The SCID screening tests for the absence of T cells, which play a vital role in the immune system. A low T cell count is indicative of other conditions, including DiGeorge syndrome, a defect in chromosome 22 that results in the poor development of several body systems including the immune system.

“We are already picking up other conditions we didn’t know existed,” Buckley said.

Lowering costs

Since the state Department of Health and Human Services approved newborn SCID screening in 2010, Buckley has given transplants to 11 babies, four of whom were born in North Carolina and diagnosed when they were already very sick, she said.

One baby’s private insurance costs exceeded $4 million, while costs for the other three babies were covered by Medicaid and totaled more than $10 million.

Buckley said giving a transplant to a healthy baby diagnosed with SCID would cost the state about $100,000, less than a tenth of what it paid in Medicaid costs for those three babies.

Bill sponsor Rep. Charles Jeter (R-Huntersville) said he hopes the momentum from Wednesday’s committee meeting will carry the bill through the House and Senate and make North Carolina the 30th state to require SCID testing as part of its newborn screening process.

“This is one of the few pieces of legislation that unquestionably and definitively saves lives,” Jeter said.

The House of Representatives could vote on the Baby Carlie Nugent Bill as early as tomorrow. Then the bill will head to the Senate.

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