The lives of most Irish 12-year-olds are dictated by the carefree rhythm of learning and playing, wonder and possibility. But when Emily Felix turned 12, she received a shocking diagnosis of Friedreich’s Ataxia; and unlike others who enter their teenage years full of anticipation, she spent hers trying to come to terms with what this diagnosis meant for her future.
Friedreich’s Ataxia is a rare and inherited neurodegenerative disorder that causes progressive damage to the nervous system. It can impact everything from a person’s speech, vision and hearing, to their movement, balance, dexterity, and coordination, causing problems for their walking and gait. Symptoms usually start in childhood and get worse over time.
There is not good data on the disorder in Ireland but it is understood that there are about 200 people living with Friedreich’s Ataxia nationally, and as it is genetic, it can affect multiple siblings in a family. The largest cohort of patients attend the National Ataxia Clinic in Tallaght University Hospital, and a spokesperson from the neurology team told Irish Country Living that: “approximately 80 individuals are followed here”.
Emily Felix (28) is training to be a solicitor, and balancing her studies with full-time work. Speaking to Irish Country Living from her home in Kilkenny, she describes her “very ordinary childhood”.
“I was involved in lots of sports and dance and music. You name it, all the hobbies. I was showing no symptoms until my late primary school years, and it was very small, non-noticeable at first. Just being bad at sports and struggling to keep up with my friends or my sister when they were running or if we were playing outside. I’d lose my breath quickly, and I’d be more tired much quicker than other people.”
It took “probably more than a year” for Emily to receive an official diagnosis, as some medical practitioners that she saw put her symptoms down to “being clumsy”. She adds, “that’s why we had to really push to get up to Dublin to the specialist neurologists.”
When Emily received the diagnosis, like many people, she had never heard of Friedreich’s Ataxia before. “I didn’t know what it meant. But I could see from the reactions of my parents, and the neurologist, that it was obviously something serious.
“I think I googled shortly after diagnosis, and that’s when I got the really scary information. The average life expectancy is in the mid-30s, and I saw pictures and videos of people in the later stages of the condition unable to speak and struggling with swallow. It was extremely scary looking at it, and it was lonely.
“I could still get on with life, but it changed quite quickly through school and the more symptoms that presented, the more I realised, it is going to keep having an impact on my life.”
Friedreich’s Ataxia has affected Emily’s mobility and she has had three spinal surgeries and now uses a wheelchair. Her speech and swallow have also been affected and she recently made the decision to use a voice-banking app to preserve the sound of her voice before it deteriorates further.
The condition can also affect patients’ heart function and eyesight. “Every organ is affected because your muscles and everything is weakened. There’s nothing that won’t be affected. It’s just a relentless disease, it doesn’t pause, and it doesn’t stop,” she says.
I think I googled shortly after diagnosis, and that’s when I got the really scary information. The average life expectancy is in the mid-30s, and I saw pictures and videos of people in the later stages of the condition unable to speak and struggling with swallow. It was extremely scary looking at it, and it was lonely
Since Emily’s diagnosis 16 years ago, her family have followed all the latest research related to the condition, much of it emerging from the USA. A critical moment occurred in 2023 when the omaveloxolone drug (Skyclarys) was approved in the US, and in Europe the following year, for the treatment of Friedreich’s Ataxia in adults and adolescents aged 16 years and older.
“When it reached approval there [in Europe], that was a real pivotal moment. There is hope for me in this lifetime, maybe I can have a life after all,” Emily says.
Life-changing drug
Getting a new drug covered by the public health system involves ensuring it is safe and effective, and deciding if the health service will pay for it.
Skyclarys was granted marketing authorisation in the EU by the European Medicines Agency in 2024; but reimbursement is at the discretion of each European country, and it is currently not available for reimbursement in Ireland. However, it is available in other EU countries like Germany, Spain, Italy, Czechia, and Greece.
At the end of last year, the National Centre for Pharmacoeconomics (NCPE) recommended that the drug should not be considered for reimbursement. They told the HSE in their summary assessment that: “The current price of the medicine is too high, and there is no price at which omaveloxolone can be cost effective. We believe that the medicine is very poor value for money.”
It added that: “The HSE makes the final decision on reimbursement.”
A spokesperson for the HSE told Irish Country Living that: “The HSE is committed to providing access to as many medicines as possible, in as timely a fashion as possible, from the resources available (provided) to it.”
“The HSE decisions on which medicines are reimbursed by the taxpayer are made on objective, scientific, and economic grounds.”
Regarding the application for pricing and reimbursement of Skyclarys made in August 2024 from Biogen Idec (Ireland) Limited, the HSE said: “This application remains under consideration with the HSE. The HSE cannot comment on possible outcomes from the ongoing process.”
On Monday, there was some glimmer of hope when Taoiseach Micheál Martin met with Craig Coady in Cork. His son Rory (13) passed away from the condition last September, and his son Paudie (16) is living with it. The Taoiseach “made no promises” but said discussions on whether the drug will be available are being brought forward by the HSE.
While the drug can’t reverse decline nor bring back any of the abilities that patients have lost, it can slow the process.
“So that’s why it’s so urgent to preserve what we still have,” says Emily. “We’ve just been waiting and declining in every shape and every form. All our abilities are being lost progressively and we’re losing hope in the two years.”
Even a few months of delay has a huge effect, because Friedreich’s Ataxia is a condition that “deteriorates very fast”.
Patient Aoife Moore (23) says the drug omaveloxolone would be “huge” and it could potentially save “my voice, my sight, my hearing, and hopefully prevent me from being in a wheelchair. It really has potential to save my walk”.
Aoife was diagnosed with Fredreich’s Ataxia at 18 years old, after “going to physios and doctors and consultants all over the country, trying to figure out what was wrong”. Her main symptoms were, and continue to be, a lack of balance and coordination, which she says has gone “downhill”.
“I’m lucky, I’ve never had scoliosis. I know a lot of the others that had scoliosis and surgeries, and they’ve been wheelchair bound since their teenage years. I am so lucky that I am walking.”
We really want to see this current treatment reimbursed because the condition has devastating consequences. It’s heartbreaking to watch people with the condition lose physical abilities one by one
According to the neurology team at Tallaght University Hospital, most patients are wheelchair bound within 10-15 years of symptom onset.
At the same time, it is hard “knowing you’re going to get worse”, Aoife adds. “Nevermind physical side effects, the mental side effects are very detrimental.”
Funding for Skyclarys
Italy is one example of an EU country where Skyclarys is available for reimbursement. Italian patient, Luca Bartilotti, told Irish Country Living that “the drug is paid for in full by the Italian National Health Service.”
Luca was diagnosed with Friedrich’s Ataxia when he was 14 years old. “I have been taking the drug for over a year and so far I am not having positive or negative changes,” he says. The drug can only slow down the progression of the disease, and not reverse it entirely.
Friedreich’s Ataxia Research Alliance Ireland is a non-profit patient organisation dedicated to supporting research into Friedreich’s Ataxia. Board member and patient Helen Kearney says: “We really want to see this current treatment reimbursed because the condition has devastating consequences. It’s heartbreaking to watch people with the condition lose physical abilities one by one. The slowing of progression may not sound huge but it could be so meaningful.
“The typical age of onset is between five and 15, a time when your future is bright and opening up but this diagnosis robs people of that future.
“This treatment affords people suffering with this condition more time and a greater chance at life. We all want to see a cure for this condition, we are not there yet but this treatment is huge reason for celebration and we now really want to see it be given to the Irish people that need it.”