Fralin Biomedical Research Institute at VTC helps sisters with rare genetic mutation

ROANOKE, Va. – When Emily Burkhart had her daughter, Anna, everything seemed normal at first. But when Anna was about six months old, Emily noticed she was falling behind.

“She wasn’t sitting up. She wasn’t really rolling. She wasn’t really meeting milestones anymore,” said Burkhart.

Anna struggled with fine motor skills and doctors noticed she had a small head. Basic genetic testing came back normal. Finally, a more in-depth test gave them an answer.

“We did find something, but we don’t know what it is,” said Burkhart.

It is an extremely rare CASK gene mutation that affects brain development. There are only about 200 known cases in the world.

Burkhart’s mom took to social media for answers and possible treatment options. That’s when they found Dr. Stephanie DeLuca with the Fralin Biomedical Research Institute at VTC.

DeLuca developed an evidence-based intensive physical, occupational, and cognitive therapy. It looks just like play and it is tailored to each child’s needs.

“Their learning looks different. And so you have to begin to recognize and understand how to progress into small steps their learning,” said DeLuca, the director of the institute’s Neuromotor Research Clinic.

Dory Wallace is a senior therapist and the associate director of clinical research and implementation. She worked with the then 5-year-old Anna four hours a day, five days a week for two weeks.

“You are really actually working on speech. You’re working on cognitive abilities. You’re working on motor abilities. All of those things go together to create functional abilities,” said Wallace.

Burkhart said Anna started blossoming after that.

“She just really started progressing and doing things that we didn’t think she was capable of,” said Burkhart.

Years later after Burkhart had two boys, her daughter Bella was born with the same CASK gene mutation as her sister.

“Pretty shocking and deflating because, you know, when you’re told things like you have a better chance of hitting the Powerball or being struck by lighting,” said Burkhart. “At this point, there’s not a Powerball machine that we don’t pass that we don’t play.

This time, she knew where to go. Burkhart took Bella to Roanoke for the intensive program at VTC.

“We are so grateful. They really, truly have changed our lives, our girls’ lives, our family’s lives,” said Burkhart.

Bella turns two on Saturday.

Now, at 12 years old, Anna is thriving – she has lots of friends and made her school’s cheerleading squad.

“She gets to do the things that, you know, no one thought she would get to do. And it really is amazing,” said Burkhart. “I like to think that maybe that’s why they were put on this planet, you know. To help others and to show others that side of inclusion and that it’s OK to be unique.”

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