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Sisters with the rare disorder make great progress after doctors said they would never talk or walk

The parents wanted to learn about Anna's condition and after years of testing and hospital visits, Anna was diagnosed with a rare gene mutation called CASK.

Sisters with the rare disorder make great progress after doctors said they would never talk or walk
Cover Image Source: GoFundMe / Krista Amato

It is hard for any parent to discover that their newborn has a genetic mutation that only affects 300 infants globally. Some genetic mutations even hamper neuromotor development, like the rare CASK Disorder. But thanks to modern medicines and treatments, sisters Anna and Bella Burkhart are now living a hopeful life. Bella was born with a rare genetic disorder that her mother, Emily Burkhart, later confirmed because she had seen it before in Bella’s older sister, Anna. Ten years ago, doctors said that Anna would never walk or talk. But she now leads a fulfilling life of riding the bus to school with all her friends, and she was even selected for her middle school cheerleading squad, according to Good News Network

 



 

 



 

When Anna and Bella were born, there were some early symptoms. Both sisters lacked developmental skills, such as grasping, rolling around and crawling. The parents wanted to learn more about Anna's condition and after years of testing and hospital visits, Anna was diagnosed with a rare gene mutation called CASK. Doctors knew very little about this rare condition, said Burkhart. “Basically, she was just going to struggle, and she was probably going to be wheelchair-bound and non-verbal,” she said. “I just wasn’t going to accept that.” The family traveled to Roanoke, Virginia, where Anna would receive intensive therapy through an experimental research protocol.



 

The Neuromotor Research Clinic at Virginia Tech's Fralin Biomedical Research Institute works with many children who have disabilities that have impeded their neurodevelopment. But Anna's diagnosis was rare and they weren't sure what could be done. “What Anna needed was different than previous kids we’d worked with,” said Dory Wallace, a senior occupational therapist. “It was about helping her learn how to pay better attention, how to use her words, and how to interact and engage with the people in her environment. Once we met her, we completely changed what we thought we were going to do to meet her needs.” Anna was very responsive and showed signs of improvement within two weeks.



 

“She was sorting colors and she was sitting still to play with a toy,” said Burkhart. “She was just doing all the things that we were able to want and expect, plus some.” When Bell was born, she displayed clear signs of a potential CASK diagnosis. At 14 months old, she began therapy. “Dory had her doing things the first day that we hadn’t seen Bella be able to do,” said Burkhart. “I started to cry because it was like, ‘OK, we’re in the right place.’” Emily husband. Charlie was amazed by Bella. “I’ve never seen Bella work so hard. I videotaped a lot so I can replicate it at home,” he said. “To be able to come down here for a month and get this blueprint and get her going, there are no words to describe how appreciative I am.”



 

The Burkarts are hopeful for Bella's recovery because of how much Anna has progressed. Anna still sticks to the therapeutic program she learned at the clinic years ago. The program is called I-ACQUIRE, mainly used in cases of infantile stroke or hemiparesis. It works with CASK to provide plasticity to the brain and develop the disrupted portion of the child’s brain. “We’re learning from each child while we’re simultaneously trying to help that child,” said Stephanie DeLuca, co-director of the Neuromotor Research Clinic. “We provide very specific guidelines for how therapists should deliver the interactions of therapy to help the child progress and maximize their development.” There is also a GoFundMe page for Bella, started by her aunt, Krista Amato. 

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