OKLAHOMA CITY (KFOR) – Shocking results from a routine newborn screening sent grandmother Janis Blevins and her family into a frenzy.
“My month-old granddaughter’s newborn screening tests came back with a concern for Malonic Acidemia,” said the first-time grandmother. “My daughter told me and I went [to the internet] to search out.
“You have that joy that you want to experience. And very quickly, this was in the picture and [the family was] robbed of those those weeks of enjoying the newborn because this is constantly in the back of your mind.”
Newborn screenings are conducted on approximately four-million babies each year in all 50 states, according to the National Institute of Health (NIH), and they help identify a range of rare or serious diseases to assist with opportunities for early identification and treatment.
Pediatric guidelines on the disease show Malonic Acidemia to be a very rare condition with only about 30 cases identified in the world.
For those affected by the condition, the body is unable to process certain proteins and fats, according to the National Library of Medicine.
In data provided by the Oklahoma State Health Department, newborns are tested for at least 50 primary and secondary disorders, including Malonic Acidemia (MAL) and Methylmalonic Acidemia (MUT).
“[You] go do another test automatically and that one came back [positive] as well,” she added, noting that the baby was retested with the same results.
“I think the term is ‘out of range’ for a particular genetic disorder,” she continued, referring to the language describing the results.
The grandmother said she and the family learned that if left untreated the disorder could cause a range of problems for the baby.
“It can lead to muscle disorders, to mental illness…it’s got consequences if it’s not handled quickly,” she added, in an interview to KFOR. “So, that’s when the tests began.”
Janis said that following the initial results, they began a series of tests to see if the potential diagnosis could be correct.
“[The baby] had in this period of time, five blood draws, two catheter collections of urine, five doctors’ appointments, and there was five weeks of worry and concern for whether this is right or not,” she added.
New results led to relief: the family learned the baby never had the condition but rather a vitamin B12 deficiency.
However, that relief then turned to anger, followed by curiosity.
“I started researching some things. And the more you research, the more problems you see,” she said, adding that she later learned that an abnormal amount of ‘out of range’ tests for this particular disorder had been identified.
“And when you are told that they’ve had an increase in the abnormal readings for this particular disease, (I don’t know about others), you begin to wonder, are these related?” she said.
Janis filed an open records request hoping to find out how the false positive result from the state’s public health lab happened.
“How many newborn testings [are done] per month? How many are abnormal? By what particular disorder?” she said recounting the questions she’d included in her request.
Janis said she was alarmed at the response.
“They said they didn’t have that information available, which is quite a big, red flag,” she noted.
Candid with her concerns, the grandmother said she’s also reached out to local lawmakers with a letter detailing her concerns.
After Janis’s request, KFOR also submitted an open records request to help determine how common false positives are, and to help determine the impact.
In a phone call Friday with KFOR, a representative from the Oklahoma State Department of Health indicated that they were working to provide the requested information and corresponding data.
Although Janis is relieved that her family’s situation ended on a positive note, she’s speaking out to shed light for other Oklahomans relying on these tests.
“How many more people are going through this and what is it going to take to get it corrected?,” she said. “What can we do to keep other families from going through hell?”
OSDH has offered KFOR an interview with a subject matter expert on newborn health screenings in response to the family’s concerns that this is not a rare incident.