A missing word was added to the original story.

OKLAHOMA CITY (KFOR) – Sara Panek said her baby’s pediatrician told her not to panic when out-of-range results came back for X-ALD in newborn genetic screening from the state’s public health lab.

“He had mentioned that he’s been a doctor for 30 years and he hasn’t seen so many abnormal newborn screenings within the last year,” said Panek.

Other doctors have expressed concern to KFOR as well, citing stress and money for an unnecessary work-ups on patients.

“He was just reassuring me, you know…it’s ‘ok’ to be worried, be worried enough to make sure you do all the testing,” Panek added.

“The amount of abnormal screenings does concern me,” she continued. “ What’s going on?”

For the mom of three, the encouragement brought fleeting relief.

“The [news at the time] was very devastating,” she said. “I haven’t even talked this out yet with the people that are closest to me.”

“Not having the answers [about the condition] …I just didn’t have the courage to bring it up [with them] because I was scared,” she added.

Sara Panek (l), pictured with Lacey, Jameson, Easton and Blake Panek (r) at Lake Thunderbird on Father’s Day

The rare genetic disorder mostly affects boys and can be deadly. In girls, the disorder can still produce severe symptoms.

In May, Gov. Kevin Stitt signed a bill requiring the state to bring the state testing in line with federal standards regarding the newborn screenings.

Senate Bill 1464, by Sen. Carri Hicks, D-Oklahoma City, adds guardrails requiring the Oklahoma State Health Department’s screening list to be regularly updated to match a federally Recommended Uniform Screening Panel (RUSP), which is decided y an advisory committee of doctors, scientists, ethicists and researchers.

The panel list includes a variety of conditions that are undetectable at birth, except through testing.

Oklahoma uses blood spot screening for 57 of the 61 federally-recommended conditions, along with two point-of-care conditions, Critical Congenital Heart Disease and Newborn Hearing Screening, which are tests that are completed at a hospital.

A representative for the Oklahoma State Health Department confirmed that the agency does not currently test for two disorders: 2,4 Dienoyl-CoA reductase deficiency (DE RED) and Medium/short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency (M/SCHAD), saying that the conditions are so rare, the world wide incidence is unknown.

Sara said the family pressed forward with additional testing, which included another cheek swab and blood draw.

However, she said the family’s peace of mind was later dashed even more, after learning another re-test would be required, and she’d have to be the one to do it.

This time, the tests were sent right to her front door from an independent genetic testing company.

“I received a package on my door and it was in my daughter’s name, and it had a blood draw kit in it,” also saying she had not been informed that she’d have to do this re-test on her own.

“I’ve never done anything like that at home,” she said, adding that she was told the at-home could be more convenient, and at the time she didn’t question not going to a physical lab.

“There was a huge lack of communication If I wasn’t on top of it, it would have been a big, bigger mess,” she added.

Data from a 2015 study provided to Duke University from the Maternal and Child Bureau of the Health and Resources and Services Administration, indicated there should be two positive tests for every 100,000 tests done for the disease; Culling through Oklahoma data suggests inconsistencies.

For instance, if the state’s health department runs 50,000 newborn tests each year, it should only identify one case of X-ALD each year.

In December 2021 alone, there were 72 positive results from the Oklahoma State Health Department for X-ALD.

Although Sara said she was prepared for the worst, months after their ordeal began she learned Lacey wasn’t affected by the disorder.

“I would have been devastated. But I knew that I would do anything and everything for her to make sure that I got her the right treatment,” she said.

“I just kept telling myself that God wouldn’t give me anything that I couldn’t handle,” she added.

Sara said while she is grateful, she still has concerns about the abnormal screenings.

“I finally just got the results this week that she’s not a carrier, and she’s five months old,” she said. “Is this just happening in the state of Oklahoma? Is this happening in other states? I do think parents should be worried.”