“It saved our daughter’s life,” the state of newborn screenings in Nebraska

LINCOLN, Neb. (KOLN) - In the newborn flurry of skin to skin and counting toes and fingers, comes a prick on the heel and a blood test for every baby born in Nebraska.

Most parents never get a call that there’s something wrong, but in May 2022, the Prinzing family did.

“It was just from her doctor, her pediatrician and she was like, ‘hey, can you come in right away, we got to get some additional bloodwork done,’” Shayla Prinzing said.

Her daughter, Olivia, was born after a fairly normal pregnancy and birth. She seemed completely fine.

“Just like you’d expect,” Matthew Prinzing said. “She cried totally normal, she ate, pottied all the time like crazy. Just a typical newborn baby.”

But the blood test revealed everything was not typical. Olivia has Tyrosenimia Type 1, meaning she was born without two genes required for processing protein. It can impact the liver, heart and brain.

Olivia’s case is severe.

“If she doesn’t get the proper medication, diet formula, that kind of thing. It could end up resulting in deaths,” Shayla said.

Early intervention and preventing deaths like that is the goal of Nebraska’s newborn screening program, which tests for more than 60 diseases.

“Several of the disorders on the panel can be quite you know, quite serious if we don’t catch them really quickly,” Jillian Chance, Newborn Screening & Genetics program manager for DHHS said.

Chance said Nebraska currently tests for 35 primary conditions and 31 secondary conditions. The federal government’s Recommended Uniform Screening Panel has 37 on the list. 10/11′s national investigative team found no state in the country tests for all 37.

The two Nebraska doesn’t test for are guanidinoacetate methyltransferase deficiency and mucopolysaccharide deficiency type two. Both have been added to the RUSP within the last year and Chance said they’re working their way through the process of getting on Nebraska’s list.

That process includes asking a lot of questions about the disease and the tests themselves.

“If we test for that, are we going to have any false negatives or false positives, you know, what treatment is available for each disorder and whether that treatment is something that’s going to make a real difference,” Chance said. “We try to have every conditions meet certain requirements.”

Chance said she’s proud Nebraska outperforms other states in the U.S. when it comes to getting babies screened. Data shows nine states have five conditions missing from their lists, including Iowa and North Dakota. Three states test for even fewer.

Bryan Health neonatologist Dr. Mark Brisso said he’s seen these tests save babies lives.

“Once or twice a year, we’ll find out we’ll find a child who has one of these rare disorders that can’t tolerate milk, or at least breast milk and has to have their diet altered because of it and because we know that up front, there are no long-term effects to that child,” Brisso said.

Most of these conditions are very rare. DHHS data shows in 2021, just 61 out of nearly 25,000 babies born tested positive for one of the conditions.

This means most parents will never get the phone call the Prinzings did, but they’re sure glad they did.

“She wouldn’t even be here if we wouldn’t have gotten that screening done. And they wouldn’t have caught what she has. She honestly wouldn’t even be here right now,” Shayla said.

With regular blood tests, a special low-protein diet and a handful of supplements and medications, Olivia is doing well and will live a normal life.

“Where she’s at now there’s almost no difference besides the diet, you know,” Matthew said. “She’s just an all around an average, happy to lucky kid.”

View Nebraska’s newborn screening annual report for 2021 here.

For resources on the screening and resources click here.

Read the full Investigate TV story here.

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