By Emma van Oosterhout
Carrying a cup of tea from the kitchen to the sitting room used to be a simple task. But as her condition deteriorates, Aoife Quinn, a young woman from Oranmore living with Friedreich’s ataxia, struggles with this.
Friedreich’s ataxia is a rare inherited condition that causes progressive damage to the nervous system, leading to problems with balance, coordination, and speech. Over time, it can affect mobility and independence as symptoms gradually worsen.
A drug which may slow the disease’s progression, and available in some other parts of the European Union having been approved by the European Medicines Agency, has yet to be approved for reimbursement in Ireland, something Aoife has moved to change.
In recent weeks, she has launched a petition calling for access to Skyclarys in Ireland, a drug already approved abroad and shown to slow the progression of the disease. It has gathered more than 9,600 signatures to date.
Aoife, an alumna of University of Galway, graduated last year with a degree in Plant and Agribiosciences. She is working part-time in a credit union while doing an online Level 9 course in UCC.
“I was so hesitant to post in the first place,” she said. “But now that I have, I’m 100 per cent in. I won’t back down until we get this drug somehow or another.”
As a teenager, Aoife’s parents noticed small signs, such as veering slightly while walking, and bumping into her sisters. By the time she was in fifth year, everyday movements required more care.
“I used to have no issue carrying tea from the kitchen to the sitting room,” she said. “Then all of a sudden I’d be so cautious, walking so slowly, just trying not to spill it.”
Now, fatigue can affect her speech, causing her to slur words or struggle to project her voice. She says she has recorded her voice, in case she ever needs a voice box in the future. For others with the condition, the progression can be far more severe including loss of mobility, difficulty swallowing, the need for full-time care.
“I see people a lot worse off than me,” she said. “Some people have progressed so much, they’d need full time care, wouldn’t be able to dress themselves, wouldn’t be able to swallow properly.”
In Ireland, around 200 people are living with the condition, though Aoife believes the true figure may be higher.
She was diagnosed shortly after the pandemic. News that, at the time, felt overwhelming.
“[I was told] ‘you’re going to be in a wheelchair, that your life’s going to be really short,'” she said. “Going into college, I was thinking, ‘why am I here? There’s no point in me studying if I’m just going to die.'”
Then, two years later, came a shift in outlook.
During an appointment with her neurologist, Aoife’s parents mentioned a new treatment, Omaveloxolone, sold under the brand name Skyclarys, which had shown promise in slowing the disease’s progression.
At the time, it was only available in countries such as Brazil, Canada and the United States. It has since been approved by the European Medicines Agency, and is accessible in a number of European countries.
In Ireland, however, it has yet to be approved for reimbursement.
Without state support, the cost, estimated at around €300,000 per patient per year, puts it far beyond reach.
“There’s no amount of GoFundMe,” she said. “It’s just an impossible amount of money.”
The reality of that gap has been difficult to accept.
“We are EU citizens, you think you’d be able to just go over to Germany or Italy, get your drugs, come back,” she said. “But you can’t, you have to be a citizen. That means I’d have to be over there for 10 years to even be considered to be treated. I don’t know if I even have 10 years.”
“I could be progressed far beyond where the drug wouldn’t be able to do anything for me,” she said.
Despite repeated efforts to raise the issue, she says responses from officials have been limited.
“We’re not getting the answers, which is so frustrating,” she said. “I just don’t have the time, we need an answer right now.”
For now, Aoife continues to manage her condition as best she can.
There is no specific treatment available to her in Ireland; she is just prescribed antidepressants at the moment. Instead, she focuses on maintaining strength and coordination through Pilates classes, building Lego, playing piano, and crocheting.
“Anything where it keeps my hands moving,” she said.
Her campaign, she says, is not just about her own future, but about those who may come after.
“There are so many people out there, a lot worse than me, that just don’t have the voice to speak,” she said. “So I’ll do whatever I can, for myself, for younger generations coming up.”
Access to Skyclarys, Aoife said, would change everything.
“It would completely change the future that I thought I’d be destined because of this.”