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Friedreich’s ataxia: ‘A game-changer drug is on the horizon so why am I afraid?’

Will I have to spend years of my life fighting for the HSE to fund life-changing treatment while this disease eats away at me?

Niamh Ní Hoireabhaird.

Niamh Ní Hoireabhaird
Mon Apr 10 2023 - 05:01

Just before midnight on February 28th, Rare Disease Day, I read the news that the Federal Drug Administration (FDA) in the US had just approved the first ever treatment for my rare disease, Friedreich’s ataxia (FA).

Friedreich’s ataxia is a rare neuromuscular disorder that progressively takes away mobility and motor skills. Some FA patients also develop other conditions, such as scoliosis, heart disease and diabetes, but not every person with FA will experience the disease in the same way. Friedreich’s ataxia is an extremely rare genetic disease; including myself and my brother, just about 200 people in Ireland have FA, but this number is an estimation because there is no nationwide register.

Although the drug has now been approved in the US, it has to go through separate approval processes in Europe, of course, and then finally in Ireland. But the FDA approval of this drug, omaveloxolone, is still a monumental step in the right direction.

My reaction to the approval was a rollercoaster. Initially, I felt happiness and hope, but the emotions quickly spiralled into anxiety and fear that the treatment won’t be accessible to Irish patients because of our country’s track-record with funding rare disease treatments.

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This isn’t anything new for me. Back in 2019, I voiced these exact concerns in an article for The Irish Times. I called for the government to be proactive and put a funding structure in place for rare disease treatments with prohibitive costs. Time and time again, we see people with rare diseases campaigning for access to treatments that have been approved by the European Medicines Agency (EMA).

I feel tears in my eyes just thinking about the future this drug could give me, my younger brother and other people with FA

In an email to The Irish Times, an EMA representative confirmed that the European regulators started the evaluation of omaveloxolone on December 28th, 2022. The assessment of a new medicine usually lasts about a year.

If the decision is made to approve the drug, European FA patients could, in theory, be able to access the much-needed treatment at some point in 2024. Then, the only thing standing in the way is cost. This is a struggle that other rare disease patients will know well.

Omaveloxolone is a tablet to be taken once a day for the rest of a patient’s life. Although omaveloxolone alone won’t cure FA, studies show that it slows progression by 50 per cent. In the US, the treatment will cost $375,000 (€350,000) per patient per year. There are no definitive reports yet, but Mary Kearney of Fara Ireland (Friedreich’s Ataxia Research Alliance), a non-profit advocacy organisation, expects this price to be almost cut in half when it comes on to the European market. However, €200,000 is still an unimaginable amount of money for the vast majority of FA patients like me.

To say this treatment would be life-changing is an understatement. I feel tears in my eyes just thinking about the future this drug could give me, my younger brother and other people with FA.

My boyfriend and I are planning a future together, and any drug that can slow the progression of FA will be a complete game-changer. This treatment would enable me to live a happier, healthier and more independent life for longer. I want to have a child and see them grow up. This drug could have a huge impact on this.

Kearney echoed my concerns about approval and funding, saying, “I expect it will be the same situation as the cystic fibrosis patients faced with Orkambi”, adding that it might even be worse for FA patients because there are far fewer of us in Ireland.

The decision to fund rare disease treatments like this one are made on the advice of the National Centre for Pharmacoeconomics (NCPE), and hinge on factors such as efficacy, cost-effectiveness and needs of the public. The treatment is efficacious, the evidence is there, but Kearney and I are worried that because there are only 200 Friedreich’s ataxia patients in Ireland, the HSE won’t consider funding this drug.

Orkambi was initially rejected on the basis that the drug was “not cost effective”, but the government did a U-turn two years later after a lengthy patient-led campaign and approved the drug for funding in Ireland.

The idea that this country would deny rare disease patients access to life-changing treatments because they don’t consider our lives to be worth the money is simply inhumane.

Jennifer Farmer and Myriam Rai of Fara both hope this is just the beginning. “My prediction, my hope for the future, is that this FDA approval is essentially a roadmap or it paves the way for all those other treatments coming behind it,” said Farmer, referencing the numerous other treatments that are in the research pipeline.

“Even when we were trained as researchers and scientists, we were always told treatment of FA will be a cocktail,” said Rai, explaining how FA will need more than just one treatment because of the disease’s multitude of symptoms and effects.

If you strongly believe in the efficacy of this drug and its potential impact on you and others, it is well worth the battle

—  Philip Wyatt, chief executive of Cystic Fibrosis Ireland

These other treatments are years behind omaveloxolone. But what will happen when they are approved? Will we be in the same situation as the one we are facing now? How many years of our lives are we expected to spend fighting for funding?

The progressive nature of FA means it is imperative for patients to be able to avail of this drug (and any other future treatments) as soon as possible. If the EMA approves omaveloxolone, but the HSE and the NCPE hesitate, people with Friedreich’s ataxia face years of campaigning and awareness-raising.

I spoke to Philip Wyatt, chief executive of Cystic Fibrosis Ireland, about the campaign to access Orkambi. He identified several issues with the way rare disease treatments are processed in Ireland.

Wyatt advised me that “if you strongly believe in the efficacy of this drug and its potential impact on you and others, it is well worth the battle”.

I notice my physical ability gradually fading. I was able to briefly stand up out of my wheelchair and walk (with support) a few years ago, but now I can’t put one foot in front of the other. Any drug that can slow the progression or help with symptoms is well worth the battle, in my eyes.

Time is of the essence, and the clock is ticking. I am, once again, calling on the Government to take preemptive action and implement a better, fast-acting rare disease treatment funding structure.

Instead of being excited for the future, I’m afraid.

Will I have to spend years of my life fighting for the HSE to fund life-changing treatment while FA eats away at me?

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