Chapter 1: What is Friedreich's Ataxia and how does it affect daily life?
We wanted to bring you this.
Now I'm joined by Emily Felix. Emily was on the programme just a few weeks ago talking about the decision by the National Centre for Pharmaco-Economics not to finance medication for Friedrich's ataxia. After speaking to Emily back then, I wanted to find out a little bit more about what it's like to live with the condition. So Emily joins me now. Hello, Emily. Hi, Clare.
You're very welcome again. Delighted to speak to you again. And we heard a little bit about your story and the condition of Friedrich's ataxia the last time you were on.
Chapter 2: What were the early symptoms and diagnosis journey of Friedreich's Ataxia?
But we wanted to talk to you in more detail. Tell me a little bit about when you were first diagnosed and what led up to that.
Yeah, so I was diagnosed with pre-traumatic anorexia when I was 12 in my first year of secondary school. So I suppose the symptoms of the condition only really started appearing in my last two years of primary school. And they were very small at first, like poor coordination, unsteady on my feet. just poor at sport and exhausted after simple activities like walking home from school or whatever.
And then it did. It was getting worse and worse, I suppose. And fatigue was becoming a bigger issue. And I was coming home from school covered in bruises, unexplained bruises, really. I couldn't remember what I had experienced. Don't know if I had fallen or banked into things. And we kind of, we then went to a private physio
And that followed by private OT, who both kind of stressed to my mum and my dad that, no, something is wrong here. This isn't an ordinary case of just a clumsy child.
Chapter 3: How has Friedreich's Ataxia progressed in the guest's life?
So I was then referred on to a paediatrician who... She was very much of the view that I was just a clumsy child. There was nothing more to that than I was a clumsy child. I will always be a clumsy child. But she referred me on to get a scan, an MRI of my brain, just to rule out a brain tumour. So when that was ruled out, that I had no brain tumour,
then I was told, yeah, see, it's not brain tumour, you're just clumsy. So we were kind of left there. But we knew still there was something wrong, and I knew myself there was still something wrong. So eventually, anyway... We got up to Temple Street to Professor King, who carried out a lot of different neurological tests and numerous blood tests.
And then after a few months, I was diagnosed officially with Friedreich's ataxia then.
And I'm sure Friedreich's ataxia was not something that you were familiar with. I mean, many of us are not. So you had to learn very quickly at a very young age about the condition.
Chapter 4: What emotional challenges come with living with Friedreich's Ataxia?
Yeah, no, when I first heard of it, I'd never heard of it, so I didn't even know how to react to the news, in fairness to her. She did give me the news in the nicest way possible, I suppose, and she did tell me that physically, yes, I will experience lots of physical challenges in the future.
But she reassured me that intellectually, my brain will never be affected, that there was no reason I couldn't achieve what I wanted to achieve and that she expected great things from me in the future.
Which is a great positive message to get at a very difficult time.
No, I'm always grateful for that. And that's the one positive aspect of the diagnosis that will stay with me. And it really has motivated me all these years.
And now, Emily, now you're in your late 20s, isn't that right? Yeah, I'm 28 now. So how is life for you now and how does Friedrich's ataxia affect you?
Yeah, it has progressed hugely and dramatically. It's an obvious change in the years. So, like, I skipped into secondary school. I exited secondary school in a walking frame.
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Chapter 5: How does the guest cope with the challenges of Friedreich's Ataxia?
And I started college in a powered wheelchair and now I am fully wheelchair reliant. And as well as the mobility decline, I've had scoliosis, aggressive scoliosis. So I had three spinal surgeries, one after another in secondary school. I also live with cardiomyopathy, which is a common symptom of radix ataxia, as the muscles weaken in your heart. So I live with that worry.
Luckily for me, it has stayed mild for quite a few years, but I'm realistic and I know not to take that for granted, that with the nature of the disease, everything will progress. And that is the reason for a shorter life expectancy.
So you're dealing with huge challenges, as you've explained so well there. How do you cope with it?
Yeah, it's very hard, but I'm lucky I've got really good supporters around me. My family and friends have always been great to me. I've always grown up with... My family tell me there's no reason I can't do what I want to do when I can't achieve what I want to achieve. And I've worked very hard and I'm still working hard and achieving big goals.
Chapter 6: What role does support from family and friends play in managing the condition?
I'm very ambitious. But yeah, mentally, it does take a toll. And I think that's... an aspect often forgotten about in these discussions about drugs, reimbursing drugs for diseases like we are humans and it's very hard emotionally.
And what did you study in college?
I studied business studies and then I did a master's in human resource management. So, yeah, I did those and then I went straight in to a job I love and I've been working there full time for the last four years.
Right. So you've been able to maintain a career and progress in that career while dealing with all of this, which... I think it goes back to what you said earlier about being ambitious and wanting to do all of the things that you would have expected to do with your life.
Yeah, definitely. I do it, but it's not easy. And I'd be lying if it was easy as everyone else says. all my colleagues, like it is extremely difficult for me, particularly with fatigue, side of Friedrich's attacks, yeah. I'm absolutely shattered by the evenings and I can't do anything in the evenings really.
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Chapter 7: What are the implications of medication decisions for those with Friedreich's Ataxia?
My days are, most of my energy is spent trying to work and then once I'm done the working day yeah I just want to go to sleep then it's draining What about pain Emily do you have a lot of pain? Yeah, I do. That's another thing that has progressed, though. I suppose in the first few years I didn't have pain, but now I have nerve pain every single night without fail.
I wake up at least once a night with this burning sensation in my feet, and it is nerve pain. I was offered medication at one stage, to ease that pain but like a lot of medications they have side effects and with this particular medication fatigue is a huge side effect and for me fatigue. I'm already suffering so much with it. So I had to weigh up the pros and cons.
And in terms of progression then, what are the medical professionals telling you about what is likely to happen next?
I suppose medical professionals are haven't been telling me necessarily what to expect. I suppose they don't want to exactly tell you what to watch and when it'll come because everyone's so different.
Chapter 8: How does the guest envision their future living with Friedreich's Ataxia?
The disease affects everyone so differently. But The reality shows when you look at other people's progression with Friedreich's ataxia. I'm aware that my speech will disappear in the next few years. I'll be reliant on a synthetic voice. My swallow will progressively get worse to the point I need thickeners.
for water and all liquids and my breathing will also progressively get worse to the point that I might need ventilator.
How do you feel about all of that? Are you afraid?
Yeah, I'm very afraid. I suppose during the days I can kind of compartmentalise the disease and then my daily life and I just get on with things. But at night time when it's just me and my thoughts in bed, it's what scares me, it terrifies me. Yeah. I know I'm realistic that it will keep progressing and it is totally out of my control.
Even though I'm working so hard on keeping every policy I have, I go to the gym twice a week to preserve the strength I have. I do exercise at home as often as I can. I'm doing the best I can, but it's out of my control at the end of the day. I suppose that's why it's very hard to understand why someone who has this drug in their hands and in their control
can turn around and say it's not worth it.
Just to explain to people, this is the drug Skyclaris, which is used in some jurisdictions. It won't be reimbursed as things stand in Ireland. And that's why we were speaking to you on the programme in the last couple of weeks. And you firmly believe that that drug would help you enormously. Is that right?
Yeah, so I suppose a big misconception about the drug is that it's ineffective because it won't save my life. It won't reduce mortality rates. But I suppose for me, the central issue is my quality of life and also preserving a little bit of independence that I still have and dignity. I think these outcomes matter enormously, just as much as living longer.
Yeah, living longer was never my intention, and definitely I know the patients with pre-drug attacks that are campaigning. We have never claimed this, the life-saving drug. We just want to live our lives with a bit of quality of life. Like, who wants to survive... living in a body that is failing year by year.
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