Longford people with rare disorder begin groundbreaking treatment

Some County Longford people with the rare, progressive neurodegenerative disorder Friedreich's ataxia are accessing the drug Skyclarys, and both they and their families are feeling more hopeful and optimistic about the future.

However, patients who are under the age of 16 are still unable to avail of the medicine and they are facing uncertainty.

There was joy and relief in August when the Health Service Executive finally approved the reimbursement of the drug Skyclarys for people with Friedreich's ataxia (FA) following a lengthy campaign.

Skyclarys is the pioneering first treatment approved for individuals with FA and the long-awaited development came after the drug company Biogen made a significantly improved offer to the HSE.

The HSE Senior Management Team said that following the "very different commercial offering to that which the HSE Drugs Group considered", they decided "on balance" that it would "approve reimbursement for Skyclarys based on the new commercial offering.

Some of the people who were delighted and campaigned prominently included Kiara Lynch, 42, from Aughnagarron, Granard, who was diagnosed with Friedreich's ataxia when she was just 13 in 1997.

Kiara's older brother Liam was diagnosed with the same progressive disease in 1990 and both of them have now started on the FDA-approved prescription medicine and she said while it is early days so far things are progressing positively.

“I started taking Skyclarys on Saturday, October 17 and Liam started taking it on Saturday, October 24 and we are both experiencing no major side effects.

"We have to have a blood test each month for the first three months and we are able to have those done with our local GP and he will then send the results up to our neurology team in Beaumont Hospital to review and if there are any problems they will bring us back up to see the neurologist."

Kiara said their neurologist gave them both a 12-month prescription for Skyclarys, so 'basically you fill the prescription for skyclarys every month for a year and if you have no issues with your bloods or are not feeling any side effects then you will see the neurologist again in 12- months and get a new prescription'.

She added, "Skyclarys means taking three tablets once a day at the same time every day

"Hopefully all will be well as we are both feeling okay.

"We are just delighted to have started Skyclarys and hopefully slowing down the never ending issues of Friedreich's ataxia."

Drumlish-based parents Theresa and Frank Kane, whose son Ciarán and daughter Emily have Friedreich's ataxia attended peaceful demonstrations and called for the HSE to approve Skyclarys.

Ciarán, 16 was diagnosed with Friedreich's Ataxia (FA) when he was just nine years old in 2019 and Emily, 14, was diagnosed when she was only eight in 2020.

Theresa said it meant 'the world' when the HSE finally approved the reimbursement, but there is a stipulation that patients must be aged 16 or over to access Skyclarys as the treatment has not passed trials in patients under that age.

Ciarán recently turned 16 so he is now expected to start soon on the medicine, but unfortunately Emily is facing a wait of up to two years.

Theresa said, "Ciarán will now get it in the beginning of December, which is great.

"It's good but it's not fair for Emily.

"She has to wait another two years, and she's going to be just deteriorating in two years, so what is she going to be like come that time?

"It's now that she needs to be on it, and people that are newly diagnosed and they should be getting on it straight away, especially if they are under 16.

"They are the ones that should be on it."

Asked how long the trials are expected to continue, Theresa said, "Your guess is as good as mine.

"I did ask the neurologist that as well, and they can't answer that."

There are at least 12 people living with Friedreich's ataxia in County Longford.

Theresa said there is 'other children' aged under-16 who are in a similar position to Emily who could be potentially left waiting several years for the vital treatment.