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By Jared Weber

Of Jennifer Lee’s five children, three — Jocelyn, Nathan and Kirra — were born with spinal muscular atrophy (SMA), a debilitating genetic disease.

Both Nathan and Jocelyn each went years without treatment after being diagnosed with the disease, which saps children of their motor function. Nathan, 5, has limited movement of his body and is dependent on a ventilator to breathe.

Jennifer Lee and her daughter Kirra, who has SMA, a genetic disease, at the General Assembly Wednesday. Photo credit: Rose Hoban

Jocelyn died in 2011.

By the time Jennifer was pregnant with Kirra, who’s now a year old, there was a new treatment available, and Kirra was diagnosed in a prenatal screening. She received her first treatment at 11 days, before developing any symptoms.

Her mother says it’s made all the difference.

“[Kirra has] had no symptoms and has met every milestone,” Lee said, bouncing the little girl who was feeding herself pieces of dried pineapple. “She was walking three days after her first birthday. She’s a miracle.”

Newborn screening for Kirra’s and Nathan’s condition isn’t recommended for testing under the federal Recommended Uniform Screening Panel (RUSP) — a list of congenital disorders for which the U.S. Department of Health and Human Services recommends universal newborn screening.

But when legislative leaders announced Wednesday that their state budget proposal would include a provision that extends federally recommended infant testing to three other rare illnesses, Lee made sure to be in attendance.

Worth the price

Under the proposed law, genetic, metabolic diseases Pompe disease, Mucopolysaccharidosis type 1 (MPS 1), and X-linked Adrenoleukodystrophy (X-ALD) will be added to North Carolina’s list of illnesses in its newborn screening program and will parallel the RUSP recommendations into the future.

Haley Hayes (center) with her mom Krystal (left) and sister Britani (right). Haley is a 12-year-old girl with Pompe disease and uses a wheelchair. Since she was diagnosed, researchers have found a treatment for Pompe disease, and many of Haley’s friends with the disease have fewer disabilities as a result. Haley goes to school, has sleepovers at her house, and enjoys swimming and other activities with her friends. “I love my life,” she said.

Up to now, Pompe, MPS 1 and X-ALD were the only RUSP “core conditions” that North Carolina didn’t cover.

Should the budget pass, the state would finally meet national standards for RUSP’s recommended core conditions, and in the future, when RUSP’s recommendations change, so will North Carolina’s. Currently, the state only recommends screenings for 17 of 26 secondary conditions.

Financing the additional screenings won’t be cheap.

The state fee for each screening will nearly triple, jumping from $44 to a $128 lab fee for the Newborn Screening Program. However, the Affordable Care Act mandates that insurance plans cover costs for any RUSP conditions screenings.

The bill does allow for parents to opt out of the screening, however.

Rep. Gregory Murphy (R-Greenville) said the potential good of the provision outweighs the price.

“These are rare diseases that can have severe neurological or metabolic consequences that can lead to lifelong disability, dependence and, sadly enough, even death,” he said. “These diseases, if diagnosed at birth, are treatable, sometimes curable, and can allow the child to live a normal and productive life.”

Rare illnesses

These genetic disorders are rarely contracted; the most prevalent of them is X-ALD, with an estimated incidence rate of 1 case per 20,000 live births, according to Orphanet.

They all are debilitating to different systems of the human body.

Pompe disease is an inherited disorder that cripples the heart and skeletal muscles.

Rep. Donny Lambeth (R-Winston-Salem) speaks at the press conference to announce the expansion of state’s infant screening regimen. With him are Rep. Greg Murphy (R-Greenville), Rep. Donna White (R-Clayton) and Rep. Nelson Dollar (R-Cary).

People born with MPS 1 lack crucial enzymes that the body uses to break down sugars. This can lead to a variety of symptoms, including deafness, joint disease and an intellectual disability that worsens over time.

X-ALD is linked to the X chromosome, and thus primarily found in males. It debilitates the nerves and often causes seizures and hyperactivity.

The disease that’s plagued Lee’s children, SMA, isn’t on that list, yet. Advocates for the disease are working to get SMA onto the RUSP panel.

“Newborn screening would give all children born with SMA the same opportunity Kirra has gotten,” Lee said.

‘We can really lead the nation’

Several members of the NC Rare Disease Advisory Council were in attendance Wednesday morning.

The council was formed in July 2015 through the passage of House Bill 823. Its members are tasked with advising statewide efforts to study rare diseases and make research and care recommendations to the governor, secretary and the Joint Legislative Oversight Committee on  Health and Human Services.

Council head Bruce Cairns, who also directs the North Carolina Jaycee Burn Center, said the provision is an example of what the state is capable of when people cooperate.

“We’ve always been a leader, actually, in newborn screening,” Cairn said. “With the powerful health sciences presence that we heard today in our state, we can really lead the nation in addressing these problems and doing so in an intelligent and focused way.”

Republican legislators released the proposal late Monday night and plan to approve it by the end of the week. Since the party holds veto-proof supermajorities in both the House and the Senate, the budget is expected to become law.

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Jared Weber

Jared Weber is NC Health News' 2018 legislative intern. He is a rising junior at UNC Chapel Hill where he's majoring in journalism and global studies with a minor in Spanish.

One reply on “Lawmakers Add Illnesses to Newborn Screening Testing”

  1. As the mother of a son with said who received late diagnosis and treatment, I am wonderfully pleased about this. We live in Florida and testing began this month. My son’s donor, my older son, is stationed at Camp Lejeune. Happy to NC stepping up!

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