‘There’s lives behind this, not just money’ - Calls continue for HSE support to treat rare condition

“The hardest part since I was diagnosed is that there’s no treatment available to help it,” says Kilkenny man David McInerney about living with the rare, progressive neuromuscular disease, Freidrich’s ataxia (FA).

Around 200 people in Ireland have FA which can affect balance and speech, and due to the deterioration of movement, many have to use a wheelchair within a few years of diagnosis while an increased chance of developing other issues like heart conditions can greatly impact life expectancy.

Until recently there was no treatment to combat progression, however in 2023, a breakthrough medication called Skyclarys (Omaveloxelone) was granted FDA approval in the United States.

The drug has been shown to slow the advance of FA with some doctors saying the rate of progression can be curbed by up to 50%, but due to its huge cost, Skyclarys is far out of reach without government assistance.

“We were very hopeful when we heard about Skyclarys and then it was approved in Europe so we thought it would surely be coming to us soon but here we are now and it still hasn’t been approved for use in Ireland,” David (27) outlines.

READ NEXT: ‘Key driver of dumping’ - Warning made to highlight illegal waste collectors in Kilkenny - Kilkenny Live

People living with FA all over the country have been calling for the drug to be reimbursed with the campaign completing a visit by five people, including David and fellow Kilkenny native Emily Felix, to Leinster House in order to lobby members of government for a valuable weapon to fight the condition that David was first diagnosed with just after starting college in 2017.

“The balance issues were fairly prevalent in the last years of secondary school and then as it progressed, we knew there was something going on so we went down the process of getting diagnosed,” he reflects.

“It was after college that it really started progressing; the voice began slurring and the balance issues continued to get worse,” David adds.

Optimism towards the arrival of a lifeline against FA received a large blow last December when the National Centre for Pharmacoeconomics (NCPE) recommended that Skyclarys not be considered for reimbursement in Ireland due to the high purchase cost.

The estimated yearly price of the drug per person is €280,000, with the national cost thought to be around €130 million over five years. Although the fees are undoubtedly large, Skyclarys has been approved for reimbursement in Italy with a recommendation in favour also being made in Canada and campaigners have urged authorities in Ireland to follow suit in putting the lifesaving potential of the drug ahead of the financial burden.

“The NCPE’s recommendation that it not be reimbursed because they didn’t think it was value for money was just cruel,” David recalls. “There’s a treatment out there and we’re not able to access it because of economics and money. It’s very hard to accept.”

“The language is so blunt and I would just say that there’s lives behind this, not just money,” he asserts.

“It’s easier for them to make recommendations like that when they don’t have any experience of anyone who lives with it. It’s hard to hear.”

Skyclarys is a first in terms of FA treatment, but there are many more in the pipeline with promising trials in fields like gene therapy lending belief that the condition can be slowed or halted with greater efficacy in the future.

The drug offers hope for people in maintaining a quality of life until such a day as these treatments are available, but right now time is of the essence in making sure the advance of FA can be reduced as soon as possible.

“When you’re living with this condition, slowing down the rate of progression is huge because it would allow us to continue living as independently as we can, not need help and keep doing the things we enjoy,” David says.

“This treatment is not a cure but it would buy us valuable time. Eventually there’s hope that there will be a cure out there; but we need this medication to get us to that day,” he continues.

A decision on Skyclarys is expected in the coming weeks and though campaigners face a nervous wait until then, there is precedent for the HSE and government going against NCPE recommendations in the case of the cystic fibrosis drug Orkambi in 2017.

The NCPE recommended that it not be reimbursed at an estimated five-year cost of €400 million, but after a sustained campaign, the government agreed to state-funded access, something which will provide some optimism to those with FA.

“The fact that the NCPE have recommended that Skyclarys not be reimbursed is obviously a big blow but there are examples in the past of when the HSE and government have gone against the NCPE’s advice so there’s still hope that they’ll make the right decision and ignore the recommendation,” David says to conclude.

“The hardest thing about it is constantly having to adjust to your new body and your new ability so if we had something that could slow down the losing that ability it would be huge.”

TAP HERE FOR MORE LOCAL NEWS