UTHealth Houston genetic counselor and geneticist help family navigate diagnosis for baby with infantile epileptic seizures

After her diagnosis of a PRRT2 genetic change, which can cause infantile epilepsy and migraines, 4-month-old Parker was switched to a medication that has helped contol her seizures. (Photo courtesy of Kelsey Schneider)

Sisters Kyndall Boone, left, and Kelsey Schneider, right, both experience numbing migraines and were later diagnosed with the same PRRT2 genetic change as Parker. (Photo courtesy of Kelsey Schneider)

After meeting with Richardson, the Schneiders walked away feeling the best they ever had about their future. (Photo courtesy of Kelsey Schneider)

In December 2022, while at day care, Kelsey and Joe Schneider’s 4-month-old daughter Parker suffered her first epileptic seizure, suffering a total of six between Christmas and New Year’s Eve, along with two hospitalizations at Children’s Memorial Hermann Hospital. Kelsey had intense, body-numbing migraines herself, but wasn't aware of any family history of seizures.

Beginning a diagnostic odyssey, physicians performed two lumbar punctures, bloodwork, and a cheek-swab genetic test on Parker. In early February, the family learned that Parker has a genetic change in the PRRT2 gene, which can cause infantile epilepsy, migraines, and involuntary movements.

“When we got the results back, we were honestly relieved because it was finally an answer,” Kelsey said. “As it turns out, my migraines and her seizures were all connected.”

Because of the PRRT2 gene variant, the neurologist switched Parker to a different antiseizure medication shown to be more effective for treatment and her seizures are now well controlled.

After undergoing genetic testing, Kelsey and her sister Kyndall Boone, who also suffers from migraines, learned they both carry the PRRT2 gene variant.

To better understand the condition, Kelsey was referred for genetic counseling with Hope Northrup, MD, and Kate Richardson, MS, CGC, in the Department of Pediatrics with McGovern Medical School at UTHealth Houston. Richardson told her that the diagnosis can present differently in each person, even members of the same family. After meeting with Richardson, Kelsey said they walked away feeling the best they ever had about their future.

“Dr. Northrup and Kate were very familiar with Parker’s diagnosis and have treated multiple patients,” Kelsey said. “They eased our anxieties.”

Meanwhile, Parker is now a 14-month-old lively baby.

“She is a wild child,” Kelsey said. “She is so happy and smiles and waves.”

UTHealth Houston has more than 20 genetic counselors on the faculty of McGovern Medical School who educate people about genetic conditions, enable comprehensive care, and provide psychosocial support for genetic diagnoses.

For more information about the genetic counseling program, email [email protected].

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