'I put it down to being unfit' - Irish woman reveals early symptom of rare disease

A young Irish woman has revealed the first symptom of a rare disease that has left her in a wheelchair at the age of 20.

Dubliner Jodie Donovan appeared on Ireland AM this week and told presenters Muireann O'Connell and Ray Foley about life living with Friedreich's Ataxia, a rare neurodegenerative disease that primarily attacks the nervous system and heart. 

Jodie spoke about how her symptoms were missed for years, how she copes with the progression of the disease, and her plea for access to a life-changing treatment.

Jodie explains that after being diagnosed, she can "pre-date" her symptoms to when she was 12 or 13 years old on a hike.

"I've done scouts more or less my whole life and we would do hikes...one day we were on a hike, about 20 minutes into it, my body was just saying 'no', it was like my legs were giving out," she said.

She explained the fact that she felt her legs giving out caused a panic attack, an incident at the time she put down to being unfit. 

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Jodie was joined on the Ireland AM sofa by Dr Mary Kearney, a mother to two daughters with the same condition and a leading voice in rare disease research. She confirms one of the first symptoms is related to balance and "a bit of stumbling."

Jodie confirmed that she was always "clumsy and unsteady" during her teenage years but she realised something was really wrong when she was 19 after "two proper falls" where she sustained injuries. 

She said in the years in between, "it wasn't that bad or noticeable" so she and the people around her didn't connect the so-called clumsiness with something more serious. By early 2024, it was "interrupting my everyday life," she explained.

Dr Mary Kearney said rare diseases "are difficult to diagnose" and that "they are trying to improve that," explaining that diseases like Friedreich's Ataxia just "kind of sneak up on you." 

Jodie said she can walk around her house by holding onto furniture but she does now use a wheelchair. She says her condition has deteriorated in the last few months as she suffers from carpal tunnel syndrome in both hands, scoliosis, no feeling in her legs or hands and a foot drop.

Asked about how she had dealt with all of her symptoms and being diagnosed earlier this year, a smiling Jodie said, "you just have to get on with it. There is nothing to do apart from just keep going." She said she was helped in dealing with it by the fact that she had come to the conclusion she had the disorder before actually being told by a doctor. 

Dr Kearney explained that a drug to treat and slow the progress of Friedreich's Ataxia by 50% is now available but it is prohibitively expensive. The drug is approved in the US and licensed but not yet approved in the EU. It costs around €300,000 per person per year as a treatment. 

Jodie said: "It's disappointing almost to hear [the price] and there is something out there that can help me; it's not a cure, but slowing the progression by 50% is a lot. I would love it to come here." She said she emailed the Minister for Health about it but has not heard anything back.