OKLAHOMA CITY (KFOR) – Another family is reeling after the required newborn screenings produced abnormal results for concerning genetic markers.
First time mom Maggie Pierce wrote to KFOR after a story aired last week about a family’s difficulties with the newborn screening process, hoping to help other parents going through the same experience.
In an email to the station, Pierce said she and her husband Michael were never informed or educated about the mandatory newborn screening done in the state; her child was born in December 2021.
“We had no idea that they had even tested her in the hospital, and a week after we got home, we got a phone call from the health department telling us that some of her markers were outside of normal limits,” she said.
Pierce said they did not observe any signs or symptoms of the condition that the abnormal results presented, X-ALD, and they were also told the need for re-tests were common in the screenings.
“It was a waiting game to see what they [medical professionals] thought was going to happen” she added.
After weeks spent waiting for results, further testing showed the infant to be healthy; she did not have X-ALD.
However, several weeks later, the family was contacted again.
“I got a phone call from a case manager, [stating that they thought] she had another genetic condition.”
More tests were done and sent off again for further testing.
“I was just so defeated,” she said. “How are we going to face this?”
Eventually those results also came back negative of the condition, but Maggie said she and her family still don’t have the answers they need.
“There was still something that wasn’t right on her lab work,” she said. “What happens in two months when I get a phone call again?”
Newborn screenings are required for every baby born in Oklahoma, according to Oklahoma State Health Department (OSDH); they also confirmed the department performs all newborn screenings in their Stillwater-based Public Health Lab.
“Out of range or abnormal results does not mean that the child has the condition,” said Lisa Caton, OSDH Newborn Screening Coordinator, also adding that the Public Health Lab conducts anywhere from 49,000 to 52,000 screenings per year.
“We are casting a net and we want to make sure we catch every child that’s affected,” added Caton.
Screenings are typically routine tests and help medical professionals identify possible abnormalities or out-of-range results that may need additional testing. If warranted, diagnostic testing may be conducted to confirm or rule out a range of rare or serious diseases; they also present opportunities for early identification and treatment.
Inconsistencies in state Public Health Lab testing led to comprehensive review in 2021, according to the state agency.
Data provided to KFOR by OSDH showed there were less than 20 occurrences each month in 2021 for X-ALD, (the condition Maggie’s baby initially had abnormal genetic markers for), except for December, the month she was born; that month, there were 72.
In an email to KFOR Thursday, the department’s open records departments also stated that the “total number of screenings does not equal total number of children, as a child may take multiple screenings”.
In a reply following a KFOR request for additional information about the out of range results, the Public Health Lab said that it “does not track false positives, as the lab is not informed as to whether these disorders are confirmed in the newborn.”
Maggie Pierce hopes sharing her story will lead to more better testing, data and communication.
“I think [testing is] a great thing because I know there are so many children that had genetic conditions caught early and they were able to start treating that,” she said.
“I just think that there should be once again, some communication, some education, and also a disclaimer stating like there is a possibility that you could get a false positive result and you could get a phone call in a week telling you to go back to the lab,” she added.
“Enjoy the time with your baby,” she added.
“And even if you get the worst news possible, you still have a perfect little child.”