Two sisters with rare neurological condition find help at Roanoke clinic
Emily Burkhart recalls the day doctors diagnosed her 5-year-old daughter Anna with a CASK gene mutation, a condition which often leaves children unable to walk, run, or play.
“We went home that night and I said I’m gonna let out a big cry,” Burkhart remembered. “I’m gonna be really upset. But then I’m gonna pull my bootstraps up and figure out what I need to do for my daughter.”
Burkhart learned about a special neuromotor clinic at the Fralin Biomedical Research Institute in Roanoke, where therapists help children recover from strokes, and with conditions like cerebral palsy.
“When Emily called me, I wanted to be cautious with her,” said Stephanie DeLuca, co-director of the program. “And I told her, we haven’t seen this diagnoses. So I honestly don’t know if we can help.”
Burkhart said it was the first time anyone had given her “some glimpse of hope.” She and her partner brought their daughter from Pittsburgh, where they live, to Virginia for a two-week intensive therapy. Anna spent four hours a day, five days a week, in a specialized program designed by DeLuca and her colleagues at the neuromotor clinic. The therapists came to Burkhart’s hotel room each day and set up the space with teaching materials, including puzzles, animal figurines, music toys and books.
A few days into the therapy, Anna began talking, and moving more.
“They were pulling things out of her that we had never seen Anna do before,” Burkhart said. “It was amazing to watch.”
Now, Anna is 13, and in class with her peers. “And she’s funny, and she’s witty, and she’s sassy,” Burkhart said. “She just got to cheer for her youth football and cheer club. That was an amazing experience for her. It was something we never thought she’d be able to do.”
Two years ago, Burkhart had a second daughter. As soon as she held Bella, she knew she had the same condition as her sister.
“We knew instantly that we had to take Bella to Virginia,” recalled Burkhart. “We had to get her there. We had to put her through that program. And I’m so glad that we did. Because they were able, again, to just pull things out of her.”
The same therapists worked with Bella, encouraging her with sparkly toys and books.
“Bella went from not sitting up at all and not being able to hold herself up in a sitting position, to she can hold herself in a sitting position,” Burkhart said.
Even though the therapists weren’t initially sure they could help, DeLuca said she’s encouraged by the progress that Anna and Bella have made through intensive therapy.
“For these children, that awareness hasn’t always been paired with their ability to focus their skills,” DeLuca said. “And so you first have to get them aware that they’re in control.”
Across the world, there are only a few dozen children who’ve been diagnosed with a CASK mutation. Burkhart said she’s heard from some of their families who want to learn more about her daughters’ progress.
“It gives hope that if your child is not talking today that doesn’t mean they won’t talk in a few years,” Burkhart said.
Bella just turned two years old. She’s still behind on many of her milestones, but her parents and regular therapists in Pittsburgh now understand better how to help her learn new skills. Her biggest role model, said her mom, is her older sister Anna.