Unique therapy changes lives of one family on Rare Disease Day
PHILADELPHIA (CBS) -- Rare Disease Day is observed annually on the last day of February to raise awareness about the challenges faced by people living with these conditions.
It's estimated there are about 300 million people worldwide living with a rare disease. Finding effective treatments can be difficult.
But one family found a unique therapy that is changing the lives of their two daughters.
Sisters Anna and Bella Burkhart share the same rare gene mutation. Twelve-year-old Anna Burkhart was diagnosed when she was four.
"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," mother Emily Burkhart said. "It was so rare."
There are only about 130 documented cases of the cask gene mutation, which can affect brain development.
After a lot of research, the Burkharts found an intensive play-based therapy. Anna Burkhart went at age five.
"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," Stephanie DeLuca, Ph.D., said.
An occupational therapist works with both sisters.
"To be able to reach out and activate a toy," therapist Dory Wallace said. "We worked on sounds and being able to communicate."
"For Bella Burkhart, she sat up and was playing with stuff with her which I never saw her do," father Charlie Burkhart said.
"They've changed our lives," Emily Burkhart said. "They gave hope when there was none."
Doctors had told the Burkharts that Anna Burkhart would never walk, talk or have a fulfilling life.
"She is sassy, witty, funny," Emily Burkhart said. "She goes to regular school. She got to be a cheerleader this past fall. 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."
These parents say they're committed to doing everything they can to keep their girls progressing.
Doctors say the lack of effective treatments or cures and limited research for the conditions adds to the high level of pain and suffering endured by not only patients but also their families.
