Aoife Quinn is a 23-year-old woman from Maree, Oranmore, who is coping with a frightening progressive disease.
At 18, Aoife was diagnosed with Friedrich’s ataxia (FA ), which is a rare genetic neurological disease that attacks the body’s nervous system, causing difficulty with walking and balance, slurred speech, and heart problems. Symptoms typically start showing between 5 and 15 but can occur later in life.
A diagnosis years in the making
I first came across Aoife when she posted about having FA on Instagram and launched a petition calling on the Irish Government to approve the new drug called Omaveloxolone (Omav for short ) and known as Skyclarys which reduces progression in Friedrich’s ataxia by more than 50 per cent.
Aoife was like every child growing up playing sports, but when she started secondary school, she stopped playing sports like some girls do. It wasn’t until she was in transition year in secondary school that her parents noticed that when Aoife was walking, she would veer into whoever was beside her. Her parents started to bring Aoife to doctors and physiotherapists to find out what the issue was. At the start, they were told Aoife had growing pains which she would grow out of, but later they were told it was dyspraxia, and eventually Friedrich’s Ataxia came up.
“Friedreich’s ataxia is a debilitating, life-shortening, degenerative, rare, neuro-muscular, genetic disorder,” explained Dr Mary Kearney, an assistant researcher for Ataxia, at the National Ataxia Unit at Tallaght University Hospital.
“The onset of symptoms can vary from childhood to adulthood. As the disorder progresses, it can cause aggressive scoliosis (curvature of the spine ), an enlarged heart, slurred speech, and hearing and vision problems. People with FA eventually become wheelchair dependent in their late teens and sometimes earlier.”
Living with a progressive condition
Aoife was 17 when her symptoms - difficulty walking and bad balance issues - started to worsen. Aoife would be in the kitchen making a cup of tea, and she would have to be so cautious holding it, and if she was tired, she wouldn’t be able to carry it. Aoife also noticed her speech started to deteriorate. More recently, she has started to record her voice on a voice box just in case she ever has to use it.
In October 2020, during her Leaving Certificate year, Aoife had an appointment that both she and her mum attended. They had expected her doctor to tell them that Aoife’s balance could be improved by physiotherapy, but instead they were told that Aoife could potentially have Friedrich’s Ataxia. “We had never heard of FA before, and hearing the words wheelchair and disability we felt thrown by all this information. It was very hard to come to terms with when you’ve gone 18 years, to be a completely abled person. It was very scary being that age, and you’re doing your applications for college, figuring out what you want to do in college.”
“My mum and I just left the office and rang my dad to meet him to discuss everything that the doctor told us. He told us that I might have Friedreich’s Ataxia and warned me of what could happen: I could become a wheelchair user; my life could be a lot shorter than average and the quality of life as I had known it wouldn’t be the same”.
Aoife would go on to be officially diagnosed with Friedrich’s ataxia in July 2021.
Hope and barriers to treatment
At the time of her diagnosis, Aoife was told that there was no treatment or cure for FA.
In 2023, she heard of the drug Skyclarys. She didn’t feel hopeful when she heard the price of it (€300,000 for each patient per year ), because she wouldn’t be able to afford to buy the drug. She also learned that currently, the HSE doesn’t pay for Skyclarys, and even though she is an EU citizen, she wouldn’t be able to go to other countries to get it. “This drug has so much potential to help people; it could slow the progression of the disease”, says Aoife. Before Christmas, the National Centre for Pharmacoeconomics (NCPE ) rejected the drug. They considered it not good value for money, reasoning Aoife believes stems from the fact that there are only 200 people with FA in Ireland.
Dr Mary Kearney said, while she didn’t have concrete evidence about patients having positive experiences with Skyclarys due to it not being available in Ireland, she has spoken to a 62-year-old Irish American nurse with FA about their experience with it, and it seemed to be positive, “She has been on omaveloxolone (omav ) medication for almost three years. She finds it quite helpful. It is expensive and as a result her insurance refused to pay for it, so she was not taking the omaveloxolone (omav ) for three months. She noted that her speech worsened.
“Fortunately, she was able to get back on the omav and her speech improved again. She has been in a wheelchair for 20 years. She is so sad that her sister in Ireland who is still walking cannot get the treatment”.
Sharing her diagnosis and building support
Aoife told her siblings about her diagnosis, news they found this difficult to hear. She decided not to tell her grandparents because at the time she only had bad balance problems, so she thought there was no point in raising any red flags and because they were told right away there was no treatment for FA, and Aoife didn’t want them to be worried and sad.
In 2024, at her granddad’s funeral, Aoife’s cousin noticed that she was limping and asked her if she was OK. For the first time, Aoife thought that if she didn’t open up, she never would, so she told him that she had Friedrich’s ataxia, and slowly after that, she began to open up to her friends.
Two weeks before Aoife shared her story on Instagram, she saw a report from RTE about how the NCPE voted against reimbursing the drug. It was Aoife’s sister who suggested that she share her story online. Initially, Aoife didn’t want to do this because she didn’t want people to know what her life was like. But in the end, she thought it would be a positive thing to do. “I don’t want other people to see me differently or to pity me, but I decided to upload the post with photos of me smiling with my family, friends and boyfriend to show that I am a young girl, I’m only 23, I have my whole life ahead of me and this drug could save me from so much struggle and suffering. I just hope that someone will hear and listen to how important that drug could be for me, it could save me”.
Aoife’s friend suggested creating a petition, advice she followed and said petition has now surpassed 10,000 signatures. She hopes it will show the government how many people are in her corner and want to get this drug approved. Following the success of her petition, Aoife is set to meet with elected officials in the coming week in an effort to get them behind her campaign and calls for access to treatment.
“The HSE has not responded, and I have shared the petition with multiple TDs and ministers online, but none of them have responded. I will be meeting with some this week, just to beg really, to plead with them.”
