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Patient Perspectives – Daisy Ireland, Charcot-Marie Tooth Patient

Daisy Ireland is a Content and Event Producer at Front Line Genomics. Ireland not only has a background in Molecular Biology and Genetics, but she was also born with the rare genetic condition, Charcot-Marie Tooth. The neurological disorder runs in Ireland’s family, who are all currently part of a natural history study for a clinical trial.

Please note the transcript has been edited for brevity and clarity.

FLG: Hello everyone, and welcome to the latest Patient Perspectives interview. Today, we are joined by Front Line Genomics’ very own Daisy Ireland. So, before we begin, Daisy, if you could just introduce yourself and tell everyone a little bit about what you do as well.

Daisy: Yeah! Hello, I am a Content and Event Producer for Front Line Genomics. I have a background in Molecular Biology and Genetics. I studied at the University of East Anglia. And I’m also a rare disease patient.

FLG: Today, we’re going to be talking about your rare condition. So, your rare condition is called Charcot-Marie Tooth. Could you tell everyone a little bit about what this condition is, what type you have and what symptoms are involved as well?

Daisy: Charcot-Marie Tooth disease or CMT is an inherited neurological disorder. I have a specific type, which is Type 1a. So, this condition mainly affects the peripheral nerves. And there are a lot of different types of CMT, I think there are four in total with different subgroups underneath. All of them are caused by a fault in one of the particular genes involved in the development of the peripheral nerves. For me with Type 1a, it’s caused by a duplication of the PMP22 gene, and it’s inherited in an autosomal dominant manner. It causes a mutation in the myelin sheath which insulates the peripheral nerves, and this mutation causes them to slowly break down.

The symptoms that this causes are quite varied. But for me, I experience muscle weakness and wasting. I have high arched feet, and hammertoes. And I also experience problems with balance, which causes me to trip and fall. Another part of it as well, means that I don’t have a reflex. So, things like picking up a hot pan, that normal people would drop, I don’t respond to that painful trigger. So, I hold on to it until I eventually end up feeling it and react to that pain stimuli. This was interesting at school, because when you do that reflex test as a kid, when they hit your knees, I didn’t have any response to that. And the teacher didn’t quite understand why I wasn’t responding to that. Another part of it as well, is having decreased sensation in my lower limbs. So, not responding to touch or anything like that.

FLG: When did you first start having symptoms? When did your family start to think that there may be something that’s not quite right?

Daisy: Yeah, so it actually runs in my family. So, you can have CMT that just is a random mutation that crops up within the first generation of the family. But we have a family history of it, so my mum was aware of it from a very young age. I’ve got two older siblings who also suffer with it. And she realised around six years of age with them. Whereas with me, she said, she first started seeing the symptoms develop about five months of age. And then when I learned to walk, it was a little bit delayed. She saw by examining my feet, that there was something there, so took us to get tested based off of her examinations.

FLG: When did you get diagnosed? What tests were run to diagnose you at the time?

Daisy: I think I was about three years of age when I first got diagnosed. This is quite early, sometimes symptoms don’t develop until you’re in your early teens. But for me, because my mum was familiar with it, I got tested very early on. The test that they carried out back then, were sort of tests of reflexes, examination of the feet and muscles. We didn’t have any genetic testing back then, just because it wasn’t offered, and we had a family history of it. So just from those physical examinations, it was apparent that was the condition we had. My brother had something where they do a nerve conduction test, where they stimulate your nerves with an electrode to see whether you have a reaction there. I didn’t have that at that age, just because it’s quite a traumatic process. But that helped with the diagnosis in this generation of my parents and children.

FLG: As you mentioned, both your siblings have it as well and your mum. What different symptoms do you all have or are you quite similar?

Daisy: Overall, we have quite similar symptoms. We have the malformations of the feet. My brother has that slightly differently, where he’s got quite flat feet. So, it can either affect high arches or flat feet. And then we have it all in a varying severity. But it’s a degenerative condition as well, so it will progress as we get older. Our symptoms when we were younger, were pretty mild, things like tripping and falling. And as we’ve got a little bit older, it becomes more apparent. And my mum suffers with it as well and has sort of more severe effects with walking and things like that, just as she’s a bit older, obviously.

FLG: When did your family as a whole realise that this condition ran in the family? Because as you said your mum knew about it, so it was easier for her to recognise the symptoms in the rest of you.

Daisy: My grandma also had the condition and my great grandmother, but neither of them got tested. They just knew that something wasn’t quite right. It wasn’t until my mum had a couple of accidents at work. She dislocated her knees a couple of times and tripped and fell and badly broke her ankle. And it wasn’t until those symptoms became apparent, that she went to go and get her ankle checked at, then the hospital referred her to a neurologist who carried out the testing there, which was when CMT as a condition first got mentioned. So, before that they knew that there was something but never got officially tested until that point.

The testing for my mum was just the physical side of things as genetic testing wasn’t a thing offered back then. We have since been genetically tested, where they found that fault is in the PMP22 gene, which is how we know we have Type 1a. But, at that point, I think my mum was around 22 years of age when she officially got diagnosed. But my grandmother never really talked about the condition. So, my mum didn’t know there was anything wrong with her, she just thought she was a bit clumsy. So, it was about then that we first knew that this condition ran in the family.

FLG: What was that like for your mum because diagnosed quite late? This often happens in the rare disease community with individuals going years without getting a diagnosis. It must have been a crazy time for your mum to deal with.

Daisy: I think she said it wasn’t that shocking. It was kind of more ‘Oh, that’s why I’m clumsy’ or ‘That’s why I’ve tripped and fallen’ and ‘That’s why I struggled at school with sport and was always picked last’. But she said the main thing was that her mum never wanted to get tested. She would quite frustrated if she got asked. I think it was just her preference and she didn’t want to admit that there was something there. And I think with us, my mum has always been very, very open about talking about it just because of her experience of not really knowing. Although she said that she never really understood that this could be passed on to her children. So, although she got diagnosed with that, there wasn’t really any support given for understanding that it is an autosomal dominant condition and that it could be passed on to her children with a 50% chance. She has two older siblings, neither of them have it. So, she’s just presumed that her children would more than likely be fine with it. And she said, that’s one of the things she struggles with most now, just knowing that she’s passed this condition on to us that obviously affects our quality of life. So, she thinks that there’s some sort of guilt there from that side of things.

FLG: What has it been like for you having that support network with your family, as they can relate to you and share in that experience? Particularly, as you said your Nan didn’t really speak about it too much and now your mum has been open with you.

Daisy: I think it’s really important. And I think, for me, it’s been nice if you’re struggling with something, the only people that really have it or have a similar thing can properly empathise with what you’re going through. So having people there that you can explain, ‘I’ve struggled with this today because of this part of it’. Or they can pick up on when you’re struggling and know how to help you and things like that. Because it causes fatigue a lot of the time, you can become really, really tired easily. So having people that understand and not having to go through the steps of explaining it as well to people that don’t know the condition makes it a lot easier to open up about it. But I think my mum being open about it as well has helped me to be a lot more open to discuss it with other people, which has been a really important part as well.

FLG: What has it been like for you growing up with the condition and trying to explain it to friends, teachers, employers, etc?

Daisy: I think when I was younger, I never really spoke about it at all. Just from my own, not really wanting to accept that there was something there or just not thinking that people would understand it in any capacity. But I’ve definitely got a lot better about speaking about it and opening up. Friends are always really understanding. Saying ‘There’s nothing to be embarrassed about having it’. So, you might as well tell them. Teachers, that was a little bit more difficult, especially with sports and PE classes. I was never very good at those. There was one time especially where I tried to explain to a teacher that I had this condition that affected me so I couldn’t do that particular activity. And just out of a lack of understanding of what it was they turned around and said ‘Oh, but there’s nothing wrong with your teeth’. Just because of the name of the condition Charcot-Marie Tooth, they just presumed it affected your teeth, and it wasn’t a neurological condition. So, I think there’s just a real lack of understanding of conditions that can make it a little more difficult.

FLG: What impact has living with this invisible illness had on your mental health?

Daisy: I think sometimes it does knock my confidence; I think especially in group scenarios. If there was a work team building experience that might have been a physical activity. I’d always been a bit nervous about saying ‘I actually can’t participate in that’ or ‘I might struggle with that a bit’. That’s, something I’ve struggled with, just having to open up and explain it and go about it that way. But I think I struggle to admit that I can’t do something, or I will stop myself from taking part in certain things just because I don’t want to admit that I will struggle with it or don’t want to fail at it. So, it sometimes prevents me from taking up opportunities just because I know I might struggle with it. I might enjoy it in the long run, I might be able to do it, but I might not actually give it a try if I’m worried that I won’t be able to do it. So that’s something I’ve had to overcome more recently. It is difficult, but I think you have just got to take everything as it comes.

FLG: Do you think there is enough support for young individuals who grow up with these rare conditions that are a lot of time invisible? Do you think there are enough support networks out there to try and help?

Daisy: I think there definitely is a lot more now. When I was growing up, I don’t remember there being much or I don’t remember them being much spoken about. That might just have been from my personal experience. We were part of a natural history study a few years ago, I think I was in my teenage years. And we met a couple of patients then that had also had the condition. But up until that point, I’d never met anyone else with it apart from that was in my immediate family. So, it kind of felt a little bit like there wasn’t anyone else out there that also suffered with it. There were a couple of times when I would go for my hospital check-ups where they mentioned that there were charities and organisations out there that support people with CMT. I now know that there are ones, a lot of them are based in the US, which is interesting. I don’t know whether it’s just because of the larger population, or the lack of funding here for it. But there are US organisations, such as the Charcot-Marie Tooth Association. I think there’s a UK one called Charcot-Marie Tooth UK, which is a charity that supports people and how they can live with CMT.

FLG: You are currently involved in a natural history study for a clinical trial, would you be able to expand on what that is and how you got involved in that study as well?

Daisy: Yeah, so I still have regular check-ups at Queen’s Square Institute of Neurology in London. I think that’s the main hub for treating or assessing patients with CMT in the UK. And we just got reached out to based on being long-standing patients there. And they mentioned that they were going to be carrying out this study. And I think with my interest in genetics, I jumped at it, because I just thought it’s finding out more about it. And also, I can potentially help people like myself, and also future generations. So, the study itself is called ACT-CMT. And it’s basically to monitor the progression of the condition. It’s degenerative, as I mentioned before, so it’s basically tracking how the symptoms and how the muscle weaknesses and things like that will progress as we age. So, we get seen at different intervals, I think it’s 6, 12 and 24 months. And we go through a series of physical tests. So, the last appointment I had, they took blood samples, and they did a skin biopsy of the wrist, seeing whether there’s any sort of Schwann cells that can be found in the skin, which have been broken down from the myelin sheath. And so, they see whether there is that apparent nerve degeneration there. They also carry out physical tests where they look at our muscles and everything like that. It’s to see whether this potential drug, that they’re testing at the moment in rats and mice, compares to the progression seen in humans.

FLG: What is this drug specifically targeting or acting on?

Daisy: I believe it’s an antisense oligonucleotide, so it will help prevent the actual degradation of the myelin sheath or block the myelin sheath from being broken down, which is what causes the symptoms in CMT Type 1a.

FLG: Although the trial is still ongoing, in terms of patient voice – how involved do you feel in relation to how the study is being conducted? How much input have you had?

Daisy: I think for me, they were really, really good at explaining the background and why the study was needed. They sent a load of paperwork out beforehand so that we could understand the different parts of it, e.g., why those particular tests were needing to be done. And it was nice because when I went to the actual appointment, they found out that I studied genetics or had a background in genetics and took a really long time explaining in depth the specific details of the condition, the specific drug, etc. They clearly had a passion there and took the time to explain it to me. I think the one thing is that as the check-ups are tracking the progress, they are quite far apart. So, it can be quite difficult to feel part of it still. Because we don’t get any updates in between, we don’t really hear about what’s happened in the progress of it, or whether there’s any advancements, setbacks or anything like that. So, I think having more of an update and touching base more frequently would be nice to just understand what we are doing and how that actually helps benefit other people. I think that would be a really nice way to make us feel involved.

FLG: Aside from your clinical trial, what are the ways that pharma companies and research institutes can ensure that they incorporate patient voice a bit more in clinical trial design?

Daisy: I think it would be nice to have permanent information put out there about these conditions and having a base to go to so that it’s not just ‘We need your help now, so we’re going to advertise’. Whereas if they constantly tried to put material out there that spoke about these rare diseases or specific conditions that weren’t the top few conditions that are really well researched at the moment. Having more out there permanently, annually, can make you feel more of a part of it. I think even just having a forum for patients to go to together would be nice.

FLG: Expanding on that, how can governments and various organisations do more to raise awareness about these conditions? Because obviously, rare diseases are rare, but people do have them. And it’s so important to get that information out there to help diagnose early.

Daisy: It is difficult, like you mentioned, rare diseases are rare. So, you’re not going to hear as much about them. But I know that there is a Charcot-Marie Tooth week. So, things like Alzheimer’s week that everyone is familiar with, cancer research, everything like that. They are such common conditions. But I think putting more out there to advertise that these support weeks or these support groups that I mentioned before, having these associations mentioned, is so important to understand how people can get help. Especially for families where it crops up in the first generation by a random mutation.

I’m lucky that I can talk to my family about it because they know what we’ve been through. We have a family history of it, so we got diagnosed early. But for people that don’t have that, having some information out there that is easy to go to, must be so important. And I think there is support there for people like myself with these conditions that result in a disability. For example, there’s support for going to university and things like that. But you never really hear about it. I got offered this support based on my siblings going through it as well. So, I knew it was there. But I think a lot of people don’t know that that support is there. So, I think actively advertising that is a really important thing to do.

FLG: Yeah, I think that’s a really important thing to mention. Because I know for a lot of people, they don’t even realise that there are schemes available to get that extra support. What has it been like getting support across your life – from school and university to the workplace?

Daisy: I, myself, went through the disabled student allowance for university. And that meant that the university was already aware of my condition before I went. And for me, that was really important because it helped me set up stuff like being entitled to extra time. So, all of that was already set up for me by the government contacting the University on my behalf and making them aware of this condition. I think for workplaces, there is a real lack of understanding of how they as an employer can benefit us. I obviously disclose it when I get offered a position. But I think people not necessarily understanding how the condition can impact their lives and how they can then be of benefit. As it is a little bit of an awkward topic to talk about a lot of the time, I think people sort of shy away from it. So, unless you actively seek out that help, a lot of time it cannot be given. So, I think making it more of a topic that people are happy to talk about and happy to approach that individual themselves will help people to seek that support.

FLG: I don’t think we can have this interview without mentioning the fact that you do work for Front Line Genomics. What made you want to go into science? Has that helped you cope with your condition and understand it a bit more as you’ve grown up?

Daisy: I knew about genetics from an early age based on the countless hospital appointments I had to go to and the numerous check-ups I had where they would mention the genetic background, the genetic chances of it being passed on and everything like that. So, it definitely made me aware of what it was. And then I remember the concept of being offered genetic counselling being brought up for when I was a little bit older, I think I was secondary school age. That was made aware to me that that would be a possibility that we would be offered. And knowing that I could seek support from a professional to understand how that condition can be passed on through families, I found that fascinating. And I think that is what really changed my opinion about studying genetics. It made me realise that it’s not just mainly lab work, your work can have a real impact on patients’ lives and passing on that condition to the next generation. And I think my studying it has meant that I sought more information about it. And even with this trial, I don’t think I would have been as readily involved if I didn’t care as much about the genetic makeup of what causes this condition to develop in the first place.

FLG: How do you think you can use the platform that you have now to help raise awareness about this condition?

Daisy: I think interviews like this and putting content out there that is free and readily accessible for the population. You can Google Charcot-Marie Tooth and not that much comes up apart from information on what the condition is. Having a platform to talk about how it can affect individuals as people suffering from the condition is really, really important. Because a lot of the time you don’t necessarily hear that. And so not just putting out the information about what specifically causes the symptoms, diagnosis, etc. Having patient voice and patient impact and just having a platform for people to share their experiences on is so important.

FLG: Yeah, I agree. What would be the one message that you would give to someone who has been diagnosed recently or is growing up with CMT?

Daisy: I think my message would be to not be shy to tell people what it is. I think that is where this awareness of the condition will begin, if people share their experiences and are readily happy to speak about suffering from it. I didn’t really do that when I was growing up because I didn’t think I could, or I thought I’d get strange looks. And so, I think knowing that it is okay to mention that they have this condition and that might be whether why they’re struggling with a certain task. And just share your experience and seek understanding from people that that are also going through it.

FLG: Thank you so much for joining me today, Daisy. It’s been really great. I think it’s so important for people to share their stories. I always get excited when people share their stories who have a genetic condition, but then have also gone into the field to further their understanding and things like that. I think it’s so important that people share their stories and, as you said, speak up about it and not be shy to say that they have a condition and they’re proud as well. So, thank you so much.

Daisy: Thank you for having me.

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