A mum has claimed doctors “dismissed” her daughter’s symptoms as “growing pains” as several cases of her rare condition are found in one area in the UK.
Jessica Cowley used to love going horse riding, dancing and doing gymnastics.
But all of that got taken away in an instant with the 20-year-old now unable to walk, talk or swallow due to dentatorubral-pallidoluysian atrophy (DRPLA), of which a cluster of cases were found where Jessica lives in south Wales.
Her mum, Rachel, aged 46, has been left absolutely devastated and although heartbreaking to say, hopes that her daughter’s time “comes quick”.
“I fear she’s going to die in the next few years,” the full-time carer, from Pontypridd, told Need To Know.
“And I hope when it does happen, it’s not a slow process – though I think it might be.
“I’m watching my little girl disappear more each day.
“It’s taken such a huge toll on me, as nobody wants to see their child ill.
“Let alone such a fast decline.”
Jessica was diagnosed with a learning disability aged seven, before being given another diagnosis of epilepsy three years later.
She began to experience frequent seizures, with them becoming more “fierce” as time went on.
Rachel said: “A couple of months ago, she had one so bad that I thought she had passed away on the sofa.
“I feel so guilty, as I have epilepsy, so I thought it was because of me.
“But then, after getting her diagnosis of DRPLA, we quickly realised these seizures were as a result of that.”
At aged 13, Jessica was walking “normally” while out with Rachel, when suddenly, her legs gave way.
She said: “She complained that she wasn’t able to walk anymore.
“I had to sit with her on the floor in a card shop.
“I noticed she couldn’t really walk up the stairs too and whenever getting off the sofa, she would fall flat on her face.
“Her dad had to carry her up to bed and back down again.
“It was a heartbreaking mystery.”
Doctors allegedly assumed the then teenager was simply experiencing “growing pains”.
But when Jessica lost her voice, Rachel urged the medical professionals to review her case once again and in May 2025, she got a confirmed diagnosis of DRPLA.
The condition, which is inherited, results in progressive degeneration of the brain and leads to the body essentially shutting down.
Jessica is currently non-verbal and relies solely on a wheelchair.
She is also experiencing dementia-like symptoms, as well as bladder control issues.
A research study into the DRPLA prevalence in south Wales was carried out by Dr Mark Wardle after a few families in the area reported the condition.
He told the BBC that the first generation of patients are now in their 50s or 60s.
Over time, the gene – ATN1 – has skipped generations, though it has expanded and this is why there’s a new cluster of patients within Jessica’s age range.
Sadly, there’s no cure and her case is terminal, with her life expectancy just another three to five years.
There is hope with clinical trials taking place in the US, though the success rate of this is unclear.
And Jessica’s case, unfortunately, has gone too far.
For now, the family are leaning on others with the condition in their area, of which there are more than 100 members in a Facebook group.
Rachel added: “It’s been awful and so scary.
“There’s nothing we can do.
“The disease has gone too far and so we’re only able to make the time she has left as memorable as possible.
“I want to raise awareness and to urge parents spotting similar symptoms to go to their doctor before it’s too late.
“And mention DRPLA, as it’s often mistaken for epilepsy, just like in Jessica’s case.
“It’s taken everything away from her and unfortunately the time will soon come that we’ve got to say goodbye.”
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