In the quiet valleys and bustling towns of South Wales, a rare and devastating neurological disorder has emerged from the shadows, leaving families in search of answers, support, and hope. Dentatorubral-pallidoluysian atrophy—mercifully shortened to DRPLA—was once thought to be a condition that affected mostly people of Japanese origin and was considered almost unheard of in the United Kingdom. But recent years have painted a very different, and deeply personal, picture for dozens of Welsh families.
Jessica Cowley, now 20, was a typical, active child until her life took a sudden and bewildering turn at age 10. That’s when she started having seizures, leading doctors to initially diagnose her with epilepsy. “We could never control it,” her mother, Rachel Cowley, told BBC News. But as Jessica entered her teenage years, her symptoms grew more alarming. “I noticed that she could hardly walk up the stairs,” Rachel recalled. At 13, Jessica’s legs began to give way. When she lost her voice, Rachel knew something more sinister was at work. “These ain’t signs of epilepsy, there’s got to be something else.”
After years of uncertainty and anxiety, Jessica finally received a diagnosis in May: DRPLA, an inherited and progressive neurological disorder with no known cure. The condition is as cruel as it is mysterious, causing a range of symptoms—progressive memory loss, personality changes, impaired control of body movements, muscle spasms, seizures, and psychiatric disturbances. Today, Jessica is unable to walk or talk, relying on a wheelchair and the constant care of her family.
Jessica’s story is not unique in South Wales. In fact, she is one of a “cluster” of patients identified in the region, a phenomenon that has baffled both families and doctors. According to Dr. Mark Wardle, a consultant neurologist who authored a pivotal 2007 study, the prevalence of DRPLA in Wales is far higher than previously believed. “It doesn’t take many generations to have very many more cases just from the most common founders,” Dr. Wardle explained to BBC News. The disorder is caused by a defect in the ATN1 gene, and a person with DRPLA has a 50% chance of passing it on to their children.
This genetic legacy has led to a shift in the age of patients. “When I first found patients with this disease in South Wales, they were in their 50s or 60s. Now we’ve got a cluster of patients in their 20s or 30s and that’s why we’re seeing that difference,” Dr. Wardle said. The gene defect can expand over generations, leading to more aggressive and earlier-onset disease—a sobering reality for affected families.
The rarity of DRPLA, described by Dr. Wardle as “astonishingly rare,” has made diagnosis a daunting challenge. “Unless you’ve got a family history, people aren’t even going to consider it,” he noted. For families like the Cowleys, the years of uncertainty were compounded by the lack of awareness among general practitioners and specialists alike. As Rachel Cowley put it, “If I phone the GP, they don’t know nothing about it.”
Support has come from unexpected places. Rachel is now part of a Facebook group for DRPLA patients and families in South Wales, which boasts more than 100 members. “It’s a massive surprise to find other people in my area facing the same challenges,” she said. “We’re all connected in a way. It’s nice to talk to some of them and have advice off them.”
Stories like Jessica’s have echoed across the region. Zoe Hoes, from Cwmbran, adopted her daughter Gabriella as a baby. Last year, Zoe was contacted by social services with news that a member of Gabriella’s birth family had tested positive for DRPLA. Noticing her daughter twitching at night, Zoe sought a private genetic test—which confirmed Gabriella also had the condition. “It’s terrible because at the moment there is no treatment and no cure. You love them so much and you don’t want to lose them,” Zoe told the BBC. But the private test cost her “in the region of £2,000,” a sum out of reach for many families. “A lot of families haven’t got that money to spend. So they just carry on with their lives, and anyone’s child could meet someone with [DRPLA] and end up being a carer for their partner and children.”
The high price of testing and the lack of awareness among medical professionals have left many families in limbo. As Dr. Wardle emphasized, “Getting good access to neurological services and genetic testing is really important to push this forward.” Yet, he also acknowledged the ethical dilemmas of testing children under 18 for a life-changing, currently untreatable condition. “People need to be mature enough to understand the consequences of being tested for the life-changing condition. You can’t do that if you’re six or 12-years-old,” he said, recalling one patient who was devastated by early screening.
Despite these challenges, there is a glimmer of hope on the horizon. Clinical trials for a potential DRPLA treatment are underway in the United States, offering cautious optimism to families in Wales and beyond. Dr. Silvia Prades, research manager at the charity Ataxia UK and CureDRPLA, is working with a team in the US trialling a treatment on two patients. Early results are promising: a teenage boy has regained some movement and improved speech, while a woman in her 30s has seen less obvious improvement due to the advanced stage of her disease. “The treatment effects can vary but the results are encouraging,” Dr. Prades told BBC News.
Still, Dr. Wardle warns against raising expectations too high, too soon. “There’s a pipeline where you’ve got to prove safety and then prove efficacy, and you’ve got to do that right,” he said. For now, care remains focused on managing symptoms and improving quality of life.
The reasons behind the apparent cluster in South Wales are still being explored. Dr. Prades suggested that improved access to genetic testing, increased awareness, and a reduction in stigma around genetic conditions might all play a role. “Perhaps it is the access to genetic testing has improved. It could also be that people are more aware of the condition. It could also be that the stigma on genetic conditions is being removed,” she said. An uptick in families engaging with her team may also reflect more people experiencing symptoms at a younger age.
For families like the Cowleys and Hoes, the journey is one of resilience in the face of uncertainty. They continue to advocate for greater awareness, support, and research—hoping that one day, a diagnosis of DRPLA will come with more answers, better treatments, and brighter prospects for the next generation.
