Chapter 1: What is Friedreich's ataxia and how does it affect individuals?
51551 the text number or give me a call on 0818 715815 and Aoife Quinn is on the line Aoife what's Friedrich's ataxia?
So it is a neurological condition and it's progressive so at the minute we'll say my balancing coordination is affected but eventually my speech my sight my hearing will be affected. So yeah, and like people have died from this. It's awful.
And sorry to be so blunt so early in the conversation Aoife, but is there a limited life expectancy with it?
They say around like 30 to 40, but again, every case is so different. Like, I'm 23 now, and for the age of me, with this condition, I'm absolutely blessed. After when I'm still walking, just off balance, my speech is grand, my sight and hearing is grand. But like that, it's just a matter of time before my body starts to deteriorate.
Chapter 2: What is the life expectancy for those diagnosed with Friedreich's ataxia?
Everyone is different.
And, you know, what is it? What's the actual problem here?
So it's like the nerves and muscles in the body, they're all affected. There's this protein that's called frotaxin, and it just isn't being produced in my body. I would say not enough of it is being produced, so causing off-balance and coordination issues. And so there's drug now at the minute, and prices are being negotiated now. between the pharmaceutical company, Biogen, and the HSE.
So it's just a matter of time before hopefully it will be reimbursed. But between now and then, there's people all over the country that are losing their abilities, such as the ability to walk and talk.
Chapter 3: What are the challenges in accessing treatment for Friedreich's ataxia in Ireland?
So I'm really, really praying that it comes soon so I can keep my ability to walk.
So there is a treatment at the moment. It's not covered, the cost of it in this country. And I understand you're going to Leinster House tomorrow to argue the case for that to change, is it?
I am, yeah. Not so much, I don't think, to argue my case, just to really plead with them. I know there's many TDs on my side and of all patients in the country with Friedrichs. just to really, really try and get these negotiations between the HSE and Biogen done as quickly as possible. Like, time was not on our side.
Aoife, stay with us because Craig Cody's on the line as well.
Chapter 4: How does the drug being negotiated impact Friedreich's ataxia patients?
And Craig, I understand you're going to Leinster House as well tomorrow, are you?
Hi, Ciarán. How are you doing? Thank you for taking the call. That's right, yes. I'll be invited up tomorrow. Unfortunately, my two sons... um, was diagnosed with fibrous ataxia. Unfortunately, uh, Rory, um, passed away eight months ago.
Oh no, I'm so sorry.
Chapter 5: What are the personal stories shared by patients and their families?
With the disease. Yeah. Um, yeah. Uh, yeah, he's, again, as Aoife was saying, um, it's different for everyone. Rory wasn't showing any unbalance, like he was playing a match that Saturday for his local club, Badavent, uh, soccer club. And, um, normal day. And he just went to bed that night and unfortunately never woke up the next morning.
His lower left muscle was thickened, which is one of the diagnoses of Frederick's ataxia. With poverty, he's 16.
Chapter 6: What is the significance of the upcoming meeting at Leinster House?
He started losing his balance at 11. Unfortunately, he's going into a wheelchair now. He can no longer walk a
10 minutes that's about it with with Padraig his speech is starting to go a little bit now they did put a pacemaker into him in Crumlin just to you know just to give him some bit of peace because he does say every night when he goes to bed I can feel it off him am I going to see you in the morning oh no Yeah, it's really hard.
And there is a SkyClarity drug out there and it's in other countries in Europe and it is working. And it's, you know, we're just hoping that they can get across the line here to give them some bit of hope. like the 200 others that have Fidrix Ataxia.
For PAUDI, Craig, would the drug, would it just arrest the progression? Would it reverse any of it?
Chapter 7: How do patients feel about the slow progress in drug availability?
How does it work? What would it do?
It slows it down 50%. Now, I heard it's even 55%. So, look, what he's lost, unfortunately, he'll never get back. So, every day, as you were saying, it it's a ticking clock.
But 20 more years would become 30 more years.
You would hope to think that, yes. Yes.
Chapter 8: What message do the guests want to convey to policymakers?
Even 40.
Yeah.
You know, as I said, it can slow the disease by 50%. And that has been proven in America and in Europe, some of the countries in Europe. We're supposed to be a rich country. They have this drug in Cyprus. So they can build bicycle sheds. Basically, they can build two bicycle sheds and that drug could do potty for a year.
How long has this drug been available? How long have you been aware of it?
It came on the market in 2024, I believe.
What has it been like knowing the drug is there? And listen, we all accept that there are processes and there have to be processes and it can't necessarily be a free-for-all. But what has it been like for the last two years watching the progress of the condition for Paudie knowing the drug is out there?
Look, he's well aware himself that the drug is out there, and he's asked me a question, why are the government not helping us? You know, that's hard coming from a 16-year-old. It's like we're going on holidays next month, and this is going to be, so that will tell you last month, last year we were away on holidays, and this summer we're going away this summer for a week.
And the wheelchair is coming, so that will tell you. Yeah. We didn't have the wheelchair last year. So that's 12 months.
Do you allow yourself to think about what it's going to be like in 12 months time? Of course, you know, you always think the worst, don't you?
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