The parents of a schoolgirl from West Lothian were devastated after being told she has a debilitating progressive genetic condition, inherited from them.
Ella-Rose Kennedy, eight-years-old, has Friedreich ataxia – a disorder that causes damage to the nervous system and cerebellum, the part of the brain that deals with voluntary movements. 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.
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, reports the West Lothian Courier.
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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.
Ella-Rose (rear right) with dad Michael, mum Jenny sister Sophie-Jane and brother Kade
(Image: Callum Moffat/Daily Record)
“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. Ella-Rose’s parents are unaffected because they only carry a single pathogenic variant, with those affected by the condition inheriting 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.
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Michael said: “It’s affecting Ella-Rose at school, she was always very popular in class but has been losing her confidence and her pals. The other children at school don’t all know about it, but she’s not performing in the games they are playing and her writing is not as good. But she is a strong wee girl with a good personality.”
“Ella-Rose was a very active wee girl but I’ve seen a decline in her,” Jenny added. “She went to gymnastics but had to leave, and used to be able to ride a bike but can’t do anything like that now. She’s falling all the time.”
There are already drugs available in the EU and elsewhere to treat adults. The couple believe these could give Ella-Rose and others like her a chance of a brighter future, but time is of the essence. One of those drugs, Nomlabofusp, is to be trialled in children early this year.
Ella-Rose (centre) with brother Kade (L) and sister Sophie-Jane (R)
(Image: Callum Moffat/Daily Record)
Michael added: “We’ve done a bit of research and if we can potentially get her on Nomlabofusp, it could stop the progression. This drug could be groundbreaking, worldwide. We’re hoping it will be fast-tracked.
“The disease comes from a defective gene. I produce 50 per cent fraxatin but that gets you by without symptoms. Neither Jenny or I show any symptoms. This drug will give Ella-Rose fraxatin levels that will probably be better than ours.
“There’s a lot of instances where when one family has it, more than one child ends up getting it. So we’re a bit nervous about that.”
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“At least they know what it is and there is hope, Jenny added. “The sooner she gets started on something the better.”
Symptoms of Friedreich ataxia can include balance problems, slurred speech, scoliosis (abnormal spine curvature),vision and hearing loss, and thickening of the heart muscles.
Jenny, who works as a nurse caring for children with life-limiting illnesses, continued: “It affects people differently, and progresses quickly in some but not others. It’s usually the heart problems that cause complications.
Ella-Rose with mum Jenny
(Image: Callum Moffat/Daily Record)
“Ella-Rose has a cardiologist appointment at the end of the month and will get an ultrasound on her heart to see if the tissue has started to thicken. She’s currently under a consultant neurologist, who will be the lead for her care. They also applied for funding for Ella-Rose to go to London to the specialist ataxia clinic, and they got it.
“The clinic will also be doing trials on new medications, hopefully in the near future. The UK seems to be a nightmare for approving treatments, and it’s frustrating when they’re available elsewhere.
“We just want to raise a bit of awareness about this condition and the fight I had to try and get her diagnosed, when we were kind of being fobbed off.”