Evelyn Olson was 1 week old when her newborn screening came back.
Her mother, Jennifer Olson, had never heard of phenylketonuria, but the diagnosis was “life altering” as the family rushed to a genetics clinic, switched Evelyn to a special formula and started to learn about the rare condition.
“It was a lot to absorb,” Olson said. “I never felt out of control about it, because the clinic took such good care of us.”
The clinic was the University of Kansas Wichita Pediatrics genetics clinic at Wesley Healthcare, a service unique in the state.
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Diagnosing Evelyn as a newborn and keeping her on a diet of low phenylalanine – an amino acid in everyday foods – has allowed her to grow into the 6-year-old, straight-A student she is today. Without treatment, she would have lifelong intellectual disability.
“Every time we get her report card from school, I’m just blown away that her mind is where it is,” Olson said.
The genetics program is a collaboration among Wesley Children’s Hospital, Arkansas Children’s Hospital and the Kansas Department of Health and Environment.
In September, the state’s only board-certified pediatric metabolic geneticist, Carolina Beltran, joined Shobana Kubendran, a board-certified genetics counselor, at the clinic.
Newborn screening tests look for 28 metabolic conditions related to how the body breaks down proteins, fats and carbohydrates, Kubendran said. Some conditions cause brain damage, while others are fatal if untreated.
With treatment, these children can live normal, happy lives.
Annually, about 500 infants in Kansas screen positive as at risk for metabolic conditions, according to data Kubendran provided. Currently, Children’s Mercy in Kansas City, Mo., handles the review and follow-up for the majority of those screenings.
“With Dr. Beltran here, we are building capacity to evaluate and follow up on patients with metabolic conditions locally,” Kubendran said.
Kansas City has already begun transferring care of patients to Wichita.
Ultimately, about 10 infants are confirmed each year in Kansas to have a metabolic condition, Kubendran said. The clinic expects to be able to treat those new patients, while providing treatment for those already diagnosed with metabolic conditions who need lifelong treatment.
Olson said it’s empowering to have a clinic in her hometown that helps her care for Evelyn. As the clinic expands, she knows it will help others care for their children with metabolic conditions.
“The families work on this every single day,” Beltran said. “We just provide support.”
“Oh,” Olson replied. “It’s not ‘just.’ ”