Newborn screenings vary by state testing or not testing for potentially life-threatening diseases

Published: Mar. 27, 2023 at 7:52 PM CDT
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Lake Charles, LA (KPLC) - Could where you live play a role in your health and the diagnosis of rare and potentially life-threatening diseases?

Certain tests are performed at birth. Our national investigative team discovered there’s no federally mandated list of tests, only recommendations.

7News takes a closer look at those newborn screenings here in Louisiana.

A routine newborn screening happens on a baby with just the prick of a heel -- gathering blood samples to be tested for life-altering, or even life-threatening diseases.

Nationally, 37 tests are on a Recommended Uniform Screening Panel or “RUSP.” Some states test for more diseases, others less.

“There’s a lot of confusion about this and unfortunately it causes a lot of confusion for parents especially because they may look at a state and go ‘well your screening for 70 obviously you’re the best and your screening for 30 you’re terrible’, but they may be screening for exactly the same thing,” Susan Tanksley, a screening lab manager said.

Of those recommended is Mucopolysaccharidosis Type II (MSP II).

“The boys are missing an enzyme that takes waste out of their cells so you eventually have some organ damage such as in the heart, liver spleen, pretty much all over the entire body,” Kim Stephens who works in MSP research and treatment said.

The screening for a newborn in Louisiana includes 33 of the 37 recommended tests. MSP II isn’t one of them.

“Cole was diagnosed when he was two and a half,” Stephens said “We had never heard of the disease. Never had any of it in our family. I had no idea what lysosomal storage disease was.”

Stephens is the executive director of the University of North Carolina’s Muenzer MSP Research and Treatment center. She’s also a mother to 12-year-old Cole, who lives with MSP II.

The rare disease affects approximately one in 170,000 males and those with MSP II typically don’t live beyond their teens.

“This late diagnosis really hurt him,” Stephens said.

She explained by the time Cole got his diagnosis, his body already experienced extensive damage.

“I can’t look back because it is what it is right now, but if he had been diagnosed early he would have been started in clinical trials earlier, ”she said. “He would have started on the standard of care which is enzyme replacement therapy right at two and a half. So, some of the damage we see wouldn’t have happened.”

A frustrating thought for parents who just want what’s best for their children.

Stephens told 7News that she wants to see MSP II get on the panel in states like Louisiana.

“What if you are born in one of those states that’s not being tested? How unfortunate, right? Stephens said.

Separation by a state line could have the biggest impact on your life.

When it comes to adding new diseases to the newborn screening, the Louisiana Department of Health said there are challenges including lab readiness, having specialists on hand, and budget.