'Ravaging my body' Longfordian's HSE plea to fund life-changing drug to treat rare disease

Longford woman Kiara Lynch has clung to the hope that one day a treatment would become available and the HSE would fund that medication to treat Friedreich’s ataxia (FA), a rare, progressive neurodegenerative disease.

She was diagnosed with FA at the age of 13 and for more than 28 years she has been battling what she describes as 'the relentless progression' affecting all of her abilities.

Kiara said she started using a manual wheelchair when she was 17, but eight years later when pushing herself became too difficult it became necessary for her to change to using a power chair for longer distances.

The North Longford woman stated she increasingly became more reliant on the power chair during her 30s and by 40 she was 'depended on a power chair' with a moulded cushion to correct her posture for almost all activities.

Kiara said, ironically, the only exceptions are medical appointments where narrow doorways usually mean her 810 mm-wide power chair cannot fit.

She stated currently, at 42 years of age, she uses her power chair with the moulded cushion full‑time.

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"I can no longer sit in my manual wheelchair for more than a couple of hours without experiencing severe hip pain," she added.

The effects of FA are having a significant adverse impact on her body and Kiara said she has 'cardiac issues, lung issues, bladder issues, pressure sores, and constant pain in my neck and back'.

She stated she is "constantly exhausted" no matter how much rest she gets.

"I do a minimum of three hours a day of physiotherapy and FA is still getting worse every day."

Kiara said there was a very welcome and much-needed glimmer of hope with this new drug treatment Skyclarys, the first treatment in the world for FA was approved.

Skyclarys or omaveloxolone was first given the green light for use in the US in 2023 and Europe followed less than 12-months later.

Biogen Idec (Ireland) Limited, the manufacturer of Skyclarys and formally requested the Health Service Executive (HSE) to fund this medication through the public health system in Ireland on August 1, 2024.

The HSE has the authority to approve Skyclarys (omaveloxolone) for treatment under the public system, but it has not yet done so, and the application remains under active consideration.

There was a major setback when the National Centre for Pharmacoeconomics (NCPE), which provides independent assessments for the HSE in relation to whether new drugs are cost-effective and should be provided to the public, issued a recommendation and referred to the “cost-effectiveness” of Skyclarys.

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Kiara said unfortunately following the NCPE assessment, a recommendation was made to the HSE that Skyclarys should not be funded by the HSE 'due to prohibitive cost and low efficacy' in December 2025.

She stated this is just a recommendation and the NCPE have a lot of influence but it is not the end of the road and there is still some hope that the HSE and manufacturer Biogen, who have had price talks and negotiations, may eventually strike a deal.

The price negotiations are held in private.

However, for the moment Kiara is continuing to suffer from the debilitating disease as it continues to ravage her health while a life-changing treatment is within touching distance.

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Kiara stated that to say FA has negatively impacted her mental health is 'nothing short of an understatement'.

She said she has faced the grim knowledge and realisation during the past 28 years that it will get worse, but every time she loses an ability it is a crushing blow.

"I had no choice but to live with the constant sense of loss and grief of losing yet another part of myself," Kiara said.

"The constant feelings of hopelessness and loneliness as I lose the ability to read, speak, hear, and communicate with the outside world is quite simply devastating."

Kiara, who has penned a powerful blog, said they have been waiting a long time for this opportunity 'only to have our government tell us 'No'.

She said she has spent the past 28 years doing her best to stay positive.

"I have been overcoming many pointless and needless obstacles in place for someone with a disability, and trying to live a relatively normal life, I am just incredibly disheartened by this recommendation."

Kiara said she felt compelled to write about her feelings and to inform the public about the reality of living with FA for the past 28 years.

She also stated she wanted to write about her predicament to "resonate with the people who are saying ‘no’ and to emphasise just how urgently we need them to say yes".

Kiara stressed this does not just affect her, but all the estimated 200 people living with FA in Ireland.

She said she lives with her husband in an annex off her parents’ home and after a 28 year struggle against the disease she is 'losing the battle'.

Kiara stated she has lost the ability to stand, walk, and make coordinated hand and eye movements, while her speech is becoming increasingly slurred and difficult to understand.

"I will soon need to use voice software that is able to replicate my voice from voice banking recordings I recorded over three years ago," she added.

Kiara said hearing is continuing to deteriorate and she uses hearing aids on a daily basis and she still struggles to understand what people are saying unless they speak very clearly and slowly.

Her eyesight is also getting worse and glasses no longer make any difference due to her eye muscles getting weaker.

Kiara said this often leaves her 'completely isolated with nothing but my own thoughts for company', which is very debilitating.

"I just find it so hard to believe I've been living with this disease for over 28 years and the relentless progression on all my abilities only for there to be a glimmer of hope with this new drug treatment Skyclarys.

"While the HSE are saying 'No, it does not make economic sense' - but it is fine to let this horrific disease continue to ravage my abilities and body?"