Sisters with rare genetic disorder receive help and hope

Published: Feb. 9, 2023 at 7:11 PM EST
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ROANOKE, Va. (WDBJ) - A pair of sisters, born with a rare genetic disorder, traveled 300 miles to the Roanoke Valley to get help. They ended up with life-changing results at hope.

Anna and Bella were diagnosed years apart with CASK, a rare genetic disorder. Their mother, Emily Burkhart, says there are only a few hundred cases of CASK worldwide.

After Anna was diagnosed, Burkhart reached out to the Fralin Biomedical Research Institute at VTC’s Neuromotor Research Clinic.

With the clinic’s help, Burkhart was able to see changes in Anna. She said, “A big thing for us was her to be able to identify colors, because that was one of the developmental milestones that she had missed and the very first day, we came back and they were sorting patches of colors and the speech that they were able to pull out of her too, it was amazing.”

Years later, Bella was diagnosed with CASK, and Burkhart knew where to go. Burkhart said, “When we started seeing Bella react to the therapy, it was that a-ha moment of ‘it’s worth it.’”

The therapy was life-changing for the sisters. Burkhart said Anna is now cheering with her cheerleading squad, when previously they were told Anna would never walk or talk. Bella is progressing, and has faced more surgeries and hospitalizations.

Stephanie DeLuca, co-director of the Neuromotor Research Clinic, said, “Stories like this and stories like Anna and Bella help people understand that we all have something to provide to society.”

Burkhart’s advice to other parents facing a CASK diagnosis is “my girls are living proof that there is nothing that will hold them back.” She also said there is always a way forward.