An eight-year-old schoolgirl from Livingston has been diagnosed with Friedreich ataxia, a debilitating progressive genetic condition. Her parents are devastated by the news, but are determined to support their daughter.
The parents of an eight-year-old schoolgirl from Livingston were devastated after being given the news that she has a debilitating progressive genetic condition inherited from them. Ella-Rose Kennedy, who attends Howden St Andrew’s Primary, has Friedreich ataxia – a disorder that causes damage to the nervous system and cerebellum, the part of the brain that deals with voluntary movements.
One in every 50,0000 people are affected by the degenerative disease, in which nerves in the spinal cord break down leading to a deficiency of sensory signals to the brain. Ella-Rose’s parents, Michael, 44, and Jenny, 42, first noticed something wasn’t quite right with the P5 pupil around a year-and-a-half ago. Jenny said: “At first the GP said it might be dyspraxia, but that is a condition from birth. “We suddenly noticed she was having a lot more falls and her motor skills weren’t as good. She also started walking with a bit of a gait. “I finally said to the GP that I really wanted her referred and everything moved quite fast from there. They gave her a full diagnosis on the 18th of November and picked it up through bloods they’d done. “It was devastating, and so unexpected. We just didn’t think that would ever happen to us.” Friedreich ataxia is caused by an abnormal gene and insufficient levels of a protein named fraxatin, parents are unaffected because they only carry a single pathogenic variant, but those affected by the condition inherit variants from each of their parents. The couple’s other children, Ryan, 13, Sophie-Jane, 11, and six-year-old Kade, will now also be tested for the condition next month. Despite the challenges she faces, Ella-Rose’s parents are in awe of the incredible strength and determination she shows every day. Michael said: “It’s affecting Ella-Rose at school, she was always very popular in class but has been losing her confidence and her pal
Friedreich Ataxia Genetic Condition Child Health Livingston
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