{"id":6547,"date":"2024-01-19T06:01:34","date_gmt":"2024-01-19T06:01:34","guid":{"rendered":"https:\/\/healthnewscentral.com\/?p=6547"},"modified":"2024-01-19T06:01:34","modified_gmt":"2024-01-19T06:01:34","slug":"new-therapy-for-sisters-with-rare-disorder-proves-successful-after-girls-learn-to-walk-and-talk","status":"publish","type":"post","link":"https:\/\/healthnewscentral.com\/new-therapy-for-sisters-with-rare-disorder-proves-successful-after-girls-learn-to-walk-and-talk\/","title":{"rendered":"New Therapy For Sisters With Rare Disorder Proves Successful After Girls Learn To Walk And Talk"},"content":{"rendered":"
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Bella Burkhart<\/figcaption><\/figure>\n

Discovering that their newborn, Bella, had a genetic mutation affecting neuromotor development, Emily and Charlie Burkhart faced the daunting reality of a rare condition known as CASK Disorder<\/a>, which only impacts around 300 infants globally.<\/p>\n

The distressing news echoed a familiar chord for the Burkharts, as they had encountered a similar situation with their older daughter, Anna. Bella\u2019s distinctive small head was an early indicator of the genetic disorder, prompting Emily\u2019s suspicions, given her experience with Anna\u2019s health challenges.<\/p>\n

A decade prior, doctors had painted a bleak picture for Anna, predicting a life devoid of walking, talking, or fulfillment. However, against all odds, Anna not only defied these predictions but also embraced a vibrant life. Today, she navigates school routines, engages with friends on TikTok, contemplates hair dyeing, and even secured a spot on the middle school cheerleading squad.<\/p>\n

In both Anna and Bella\u2019s cases, initial signs of the disorder were subtle at birth, but they soon manifested in delayed developmental milestones, such as difficulty grasping objects, rolling over, and crawling. Anna, for instance, did not walk until she was almost 3 years old, prompting her parents to seek answers for her developmental delays.<\/p>\n

\u201cBasically, she was just going to struggle, and she was probably going to be wheelchair-bound and non-verbal,\u201d<\/strong> <\/em>she said. \u201cI just wasn\u2019t going to accept that.\u201d<\/strong><\/em><\/p>\n

After an arduous journey of testing and hospitalizations, Anna was diagnosed with a rare mutation of the CASK gene. The Burkharts, armed with little information about the condition, embarked on a journey to Roanoke, Virginia, where Anna could undergo intensive therapy through an experimental research protocol at the Neuromotor Research Clinic at the Fralin Biomedical Research Institute at Virginia Tech<\/a>. Therapy consisted of 3 to 6 hour days, 5 days a week, for at least 4 weeks at that.<\/p>\n

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Anna Burkhart<\/figcaption><\/figure>\n

Finally Turning a Corner<\/strong><\/h3>\n

The clinic, accustomed to working with children facing various disabilities affecting brain development, had not encountered a case like Anna\u2019s before.<\/p>\n

Dory Wallace, a senior occupational therapist from the center said, \u00a0\u201cWhat Anna needed was different than previous kids we\u2019d worked with. 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.\u201d<\/strong><\/em>
\nThe uncertainty did not deter them, and to their amazement, Anna responded positively to the therapy.<\/p>\n

\u201cI love seeing that light switch go on when a child realizes she\u2019s learned something new,\u201d<\/strong><\/em> Wallace said. Two weeks later, the change was already dramatic.<\/p>\n

\u201cShe was sorting colors and she was sitting still to play with a toy. She was just doing all the things that we were able to want and expect, plus some,\u201d<\/strong><\/em> said Burkhart.<\/p>\n

This experience laid the foundation for the family\u2019s future optimism, particularly when faced with Bella\u2019s diagnosis a decade later. Bella\u2019s birth, marked by microcephaly, hinted at a potential CASK diagnosis. Her therapy commenced at 14 months old.<\/p>\n

\u201cDory had her doing things the first day that we hadn\u2019t seen Bella be able to do,\u201d<\/strong><\/em> said Burkhart. \u201cI started to cry because it was like, \u2018OK, we\u2019re in the right place.\u2019\u201d<\/strong><\/em><\/p>\n

Charlie, Emily\u2019s husband, witnessed the transformative effects firsthand.<\/p>\n

\u201cI\u2019ve never seen Bella work so hard. I videotaped a lot so I can replicate it at home,\u201d<\/strong><\/em> he said. \u201cTo 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.\u201d<\/strong><\/em><\/p>\n

Drawing inspiration from Anna\u2019s progress, the Burkharts harbored high hopes for Bella\u2019s development.<\/p>\n

Central to the success of Anna and Bella\u2019s therapy was the I-ACQUIRE program, originally designed for cases of infantile stroke or hemiparesis. Surprisingly, it proved effective in the context of CASK by leveraging the brain\u2019s plasticity to stimulate the affected regions. Techniques such as restraining overactive limbs compelled the child to learn to control the under-utilized ones, illustrating the adaptability and resilience of the human brain.<\/p>\n

\u201cWe\u2019re learning from each child while we\u2019re simultaneously trying to help that child,\u201d<\/strong><\/em> said Stephanie DeLuca, co-director of the Neuromotor Research Clinic. \u201cWe provide very specific guidelines for how therapists should deliver the interactions of therapy to help the child progress and maximize their development.\u201d<\/strong><\/em><\/p>\n

Watch the heartwarming video below to see how the Neuromotor Research Clinic has been successful at changing lives.<\/p>\n