Sister with rare disease makes dramatic progress with new treatment after doctors say she will never walk or speak

What parent can imagine worse than hearing that their newborn has a genetic mutation that interferes with neuromotor development, affecting only 300 infants worldwide?

But even for rare conditions like CASK disorder, the wonders of modern medicine can lend a helping hand, as was the case with Anna and Vera Burkhart.

Bella had a surprisingly small head. She was born with a rare genetic disorder. Her mother, Emily Burkhart, told Bella’s older sister Anna that she had seen her before, so she immediately suspected her genetic problem.

Ten years ago, doctors predicted that Anna would never walk or talk, and that she would never live a full life. Today, she’s taking the bus to school, hanging out with her friends on TikTok, planning to dye her hair, and even joining her middle school cheerleading team.

When Anna and Bella were born, they showed few signs of disability, but both soon began to lose developmental milestones such as the inability to grasp, roll, and crawl. She could hardly walk until she was three years old.

Her parents wanted answers for her Anna’s delay. After years of testing and hospitalization, Anna was finally diagnosed with a rare mutation in her gene called CASK, common to many species. Burkhart said doctors knew little about the condition.

“Basically, she would just fight and she would probably be bound to her wheelchair and not speak a word,” she said, “I just didn’t want to take it.”

Soon the family traveled to Roanoke, Virginia, where Anna was able to receive intensive care through an experimental research protocol. Therapists at the neuromotor research clinic at the university’s Fralin Institute for Biomedical Research work with children three to six hours a day, five days a week, for up to four weeks.

Research clinic teams have worked with many children with impaired brain development and function, including those with cerebral palsy. However, the team had never worked with a child with Anna’s diagnosis before and weren’t sure what to expect.

“What Anna needed was different than the previous kids we worked with,” said Dolly Wallace, a veteran occupational therapist. It was about paying attention, using language, helping people interact and engage with them.Since meeting them, we have completely changed our approach to meet their needs.”

Anna responded immediately. “I love seeing the lights switch on when my kids realize they’ve learned something new,” Wallace said. After two weeks, the change was already dramatic. .

“She was sorting colors and sitting quietly playing with her toys,” Burkhart said. “She just did everything we wanted and expected, plus a few things.”

Almost a decade after her, a similar turnaround came when Burkhart’s second daughter, Bella, was born with microcephaly and articulated that she may have been diagnosed with CASK. Bella was 14 months old when we started her treatment.

“Dolly got her to do things on her first day that Bella had never seen before,” said Burkhart. “I started crying because I thought, ‘Okay, we’re in the right place.’”

Emily’s husband Charlie intrigued her.

“I have never seen Bella work so hard. “She’s been here for a month and I can’t put into words how grateful she is that she was able to get this blueprint and make it work.”

The Burkharts have high hopes for Bella after watching her older sister Anna grow up, who continues to use some of the treatment programs her family learned at the clinic years ago. increase. The program, called I-ACQUIRE, is typically used for childhood stroke and hemiplegia, but in conjunction with CASK, it relies on brain plasticity to improve the child’s brain, such as inhibiting overactive limbs. Developed the dysfunction and forced the child to learn how. In the case of hemiplegia, controls that are not used enough.

“We learn from every child while trying to help that child,” says Stephanie DeLuca, her co-director of the Neuromotor Research Clinic. “We provide very specific guidelines on how therapists communicate treatment interactions to help maximize a child’s progress and development.