Individuals battling Friedreich’s ataxia (FA), a rare inherited neurological condition that causes the body to shut down, and their families are urgently appealing to the state to approve funding for Skyclarys, a drug shown to slow the disease's progression. The plea comes as the Health Service Executive (HSE) Drugs Group has deferred a decision on public reimbursement for the treatment, a move that has heightened anxieties among those affected.
Emily Felix, 28, who was diagnosed with FA at age 12 and now relies on a wheelchair, expressed the renewed fear that has gripped the FA community. "We need this drug before it's too late," she stated, questioning the value placed on their lives by the authorities. "There are 200 people here in Ireland literally begging for our lives."
The HSE Drugs Group deferred its decision on the omaveloxolone treatment, known as Skyclarys, referring the application to the Rare Diseases Technology Review Committee for further expert assessment. This decision occurred over 700 days after the HSE began evaluating the drug, and with the Dáil due to rise for summer recess, precious time is being lost.
This delay is particularly devastating for families who have already experienced profound loss due to FA. Craig and Della Coady from Cork lost their 13-year-old son Rory to sudden heart failure caused by the disease, and their other son, 16-year-old Paudie, also has FA. Margaret and Padraig Coyne from Galway lost their six-year-old son Dara in December 2022 to the condition, and their other son, Sean, 16, also has FA, having lost his ability to walk and suffering from cardiomyopathy.
Emily Felix recounted how her diagnosis at 12, a time when she was preparing for secondary school, drastically altered her life. She initially feared she would not live to see her 30th birthday after seeing images of people on ventilators online. Within months of her diagnosis, she required a special needs assistant and soon after began using a walking frame, progressing to a wheelchair by age 15. School trips, physical education, and social events became difficult or impossible as hospital appointments and adapting to her body's decline became her reality.
Despite the physical challenges, Felix has pursued intellectual goals, training to become a solicitor while working in banking. She highlighted Professor King's assurance that FA would not diminish her intellect, a statement that fueled her determination. However, she noted the cruelty of remaining acutely aware of her deteriorating physical state. Felix has even recorded her voice for a specialist software in anticipation of potentially losing her ability to speak. She requires assistance with daily activities and manages mild heart failure, a common complication of FA, while continuing to visit the gym to maintain strength.
Aoife Quinn, 23, who was diagnosed five years ago, is also campaigning for access to Skyclarys. She recalls being told at diagnosis that there was no cure or treatment and that her life would be over in a matter of years. While she is still walking, her balance and coordination issues are progressing, and her voice is weakening. Quinn emphasizes that access to Skyclarys is only the first step, advocating for comprehensive multi-disciplinary treatment including counseling, physiotherapy, and speech therapy, which she feels is lacking in Ireland.
Skyclarys, authorized in Europe in 2024, is the first medicine specifically for FA. It does not cure the disease or reverse existing damage but can slow its progression, helping patients retain mobility and independence longer. Studies show a significant reduction in disease progression for those taking the drug. However, without public reimbursement, the estimated annual cost of €300,000 per person is prohibitive for most.
Concerns about cost were raised by the National Centre for Pharmacoeconomics (NCPE), which in December issued a non-recommendation for reimbursement, citing uncertainty about clinical benefits and an estimated annual budget impact of €200 million. The NCPE's clinical director noted that such expensive drugs do not improve overall survival and questioned the value of early access to treatments with limited efficacy.
Maureen Sweeney, chairperson of Ataxia Ireland, countered that the focus on the drug's price overlooks the long-term costs of the disease itself, including people in their 30s and 40s requiring nursing home care due to a lack of specialized neurological rehabilitation services.
The HSE stated that the Drugs Group deferred the decision to the Rare Diseases Technology Review Committee (RDTRC) to ensure full consideration of the medicine against statutory criteria, including patient need and clinical benefit. The HSE aims to complete this review within one month, though patient advocacy groups express skepticism about the timeline, fearing it could take until Christmas before any meaningful decision is made. Two patient advocacy groups are scheduled to meet with the RDTRC to try and expedite the process.