Interview with Dr Carol McCudden

February 28, 2023

This month we meet Dr Carol McCudden, an occupational therapist and medicolegal consultant living in France, who kindly sat down with us and shared her experiences of living with the rare, neurodegenerative condition Friedreich's ataxia.

Please tell us a bit about yourself and your interests.

I spent 25 years working for the NHS as an occupational therapist, working in different fields including psychiatry, neurorehabilitation, community learning disabilities and posture and mobility within that. When I left the NHS I was clinical lead for North Wales, a pan-service for posture and mobility. I took early retirement from the NHS in 2016, really because the concept of reasonable adjustment to adapted ways of working in the NHS is really poor. I wanted to continue working in a way that I was able to manage my condition as it deteriorated. I continued with private work in the medical legal field which I still do today. I’m also an Ambassador for Ataxia UK and I’m still involved with the Wales Neurological Alliance, a not-for-profit organisation representing people affected by neurological conditions in Wales, where I represent Ataxia UK on the Executive Board.

From a family perspective, I have a partner and a dog. We bought a house in France in 2013 (where I’ve lived permanently since 2018) - well I say house; it had no electricity, no water, no heating, no mains drains, and the roof was falling in. It did have some floors but not many! So my interests now are mainly developing new DIY skills and mastering new tools without severing any limbs! Dexterity and balance does impact on what I can and can’t do. I’ve always played guitar as well, which I still try to do, but is challenging with ataxia affecting my rhythmic movements. I also did a lot of sports, which is difficult to pursue now due to lack of facilities available for adapted sports in rural France. I’m hopeful that we’ll have a new swimming pool completed at our house this year and I’ll be able to do aqua-aerobics to exercise that way.

Please tell us about your journey to being diagnosed with Friedreich's ataxia.

My brother also has Friedreich’s ataxia, and he was diagnosed first. He received his diagnosis after I recognised his symptoms of ataxia - his walking had changed, his speech had started to change, there was something neurological going on. His journey to receive a diagnosis took an awful lot longer than mine. I was diagnosed in 2007 at age 43, about three years after him.

I noticed that walking in the dark was becoming more difficult for me and in one particular incident when I was stepping off a train onto an unlit platform, I ended up on my knees and realised that I just hadn’t recognised the drop between the train and the platform.

I went to see my GP and he referred me to genetics, because of my brother having Friedreich’s ataxia, and to neurology.

I had an appointment with genetics six weeks after seeing my GP. They advised that it can take up to a year to receive the results of genetic testing, but because I could provide my brother’s testing report, they were able to accelerate my testing to look for the same thing, and it was only weeks before they rang me to inform me of the results, confirming that I also had Friedreich’s ataxia.

At this point I was still waiting to see neurology and by the time I got an appointment over a year later, I was able to tell the neurologist I had Friedreich’s ataxia and show him my genetic testing report to prove it. After a while I learned about the University College London team, and the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS) programme and asked my GP to refer me down there for my care.

Despite my diagnosis in 2007, I started my doctorate in occupational therapy that year and continued working full time.

What is something about living with Friedreich's ataxia that you feel is underappreciated and is important for people to know?

I think it is underappreciated how much of a disruptive experience Friedreich’s ataxia is to people. It robs people of things, their roles, their interests, the things that make you who you were. It’s something that comes into your life that you didn’t invite in. Yes, you can try to reinvent yourself, but that is a very difficult thing to do. I also think the effect that Friedreich’s ataxia has on executive functioning from a neurological point of view is underappreciated, for example, I find that I can’t remember words as easily anymore and I procrastinate.

Another thing that is underappreciated is the effect of labelling and terminology.

We carry the label of having “no cure”, that Friedreich’s ataxia is an incurable condition. This sort of labelling and terminology can have powerful and damaging effects on people. It can leave people disempowered to take control, and they end up being left to their own devices.

What improvements would you like to see in Friedreich’s ataxia research and clinical practice?

I think there is an overall lack of understanding of Friedreich’s ataxia amongst general health professionals and it isn’t seen as a clinical priority. We asked the Minister for Health for Wales about investment in research for neurological conditions and the response from Westminster was that they’ve invested £5m in neurological services, but that is in multiple sclerosis, Parkinson’s disease and stroke. It would be fantastic to see more practical research done, together with statutory bodies like public health, to determine accurate demographics to enable research to be more directed and find truer statistics on things like the number of people living with Friedreich’s ataxia, for example.

I would encourage investigators to think outside the box about Friedreich’s ataxia and to bring scrutiny and rigour to their research and the field, especially around consent and coercion – there is a significant power imbalance between researchers who may hold a cure and participants who have nothing else as an option.

I think we need to promote awareness of Friedreich’s ataxia. While we wait for a complete genetic revamp therapy, we need to treat and manage our symptoms in the meantime.

We need to listen to more narratives from people with Friedreich’s ataxia in a robust way to develop research qualitatively and to influence policy.

I’m reminded of a scene in the film The King’s Speech, where Colin Firth portraying King George VI says: “I have a voice”. I’ve talked about a lack of understanding and if we truly want to raise awareness, when someone is trying to say something, we must give them the space to let them say it.

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Learn more about the Oxford-Harrington Rare Disease Centre's Friedreich's ataxia program.