February 28th Is Rare Disease Day, Raising Awareness For Over 300 Million People

Rare Disease Day falls on the last day of February ever year. It is a day designed to raise awareness for the 300-million people worldwide living with a rare disease.

Sisters Anna and Bella Burkhart are two such people. They share the same rare mutation, known as the CASK gene mutation, which can affect brain development. 12-year-old Anna was diagnosed when she was four. Her mother Emily Burkhart says, “It was kind of bittersweet because, on one hand, we were happy to finally have a diagnosis, but then on the other hand, nobody knew what it was. It was so rare.”

There are only about 130 documented cases of the CASK gene mutation. Doctors had told the Burkharts Anna would never walk, talk, or have a fulfilling life.

After a lot of research the Burkharts found an intensive play-based therapy pioneered by the Neuromotor Research Clinic at Virginia Tech’s Fralin Biomedical Research Institute. Anna went at age five.

Stephanie DeLuca, PhD is the co-director of the institute. She says “It's delivered multiple hours a day, multiple days a week for multiple weeks. And we believe that it is impacting a child's ability to learn by creating changes in the brain and giving them platforms to maximize their development.”

Emily Burkhart says, “They've changed our lives. They gave hope when there was none.” She says Anna has blossomed.

“She is sassy, witty, funny. She goes to regular school. She got to be a cheerleader this past fall,” says Emily Burkhart. “Bella has a lot more medical needs. She doesn't walk or talk. And so I think that's difficult for us to see them be so different. Even if that's not her journey, we're still going to hold hope that it will be.”

Occupational therapist Dory Wallace worked with Anna and Bella, who is now two. “To be able to reach out and activate a toy. We worked on sounds and being able to communicate,” she says.

The girls’ father Charlie Burkhart says “Bella sat up, was playing with stuff with her hands, which I never saw her do.”

At home the family is using everything they’ve learned to see the girls keep making strides.