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

ROANOKE, Va. โ€“ 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.

โ€œShe wasnโ€™t sitting up. She wasnโ€™t really rolling. She wasnโ€™t really meeting milestones anymore,โ€ 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.

โ€œWe did find something, but we donโ€™t know what it is,โ€ said Burkhart.

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

Burkhartโ€™s mom took to social media for answers and possible treatment options. Thatโ€™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 childโ€™s needs.

โ€œTheir learning looks different. And so you have to begin to recognize and understand how to progress into small steps their learning,โ€ said DeLuca, the director of the instituteโ€™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.

โ€œYou are really actually working on speech. Youโ€™re working on cognitive abilities. Youโ€™re working on motor abilities. All of those things go together to create functional abilities,โ€ said Wallace.

Burkhart said Anna started blossoming after that.

โ€œShe just really started progressing and doing things that we didnโ€™t think she was capable of,โ€ said Burkhart.

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

โ€œPretty shocking and deflating because, you know, when youโ€™re told things like you have a better chance of hitting the Powerball or being struck by lighting,โ€ said Burkhart. โ€œAt this point, thereโ€™s not a Powerball machine that we donโ€™t pass that we donโ€™t play.

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

โ€œWe are so grateful. They really, truly have changed our lives, our girlsโ€™ lives, our familyโ€™s lives,โ€ said Burkhart.

Bella turns two on Saturday.

Now, at 12 years old, Anna is thriving โ€“ she has lots of friends and made her schoolโ€™s cheerleading squad.

โ€œShe gets to do the things that, you know, no one thought she would get to do. And it really is amazing,โ€ said Burkhart. โ€œI like to think that maybe thatโ€™s why they were put on this planet, you know. To help others and to show others that side of inclusion and that itโ€™s OK to be unique.โ€


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