The research was just like being screened for anything really. I’ve applied for literally, quite a lot of medical testing throughout my life. I do gliding so I get tested for different things each year for medicals for that. So it was no different to having your blood pressure, your weight, your reflexes, testing those things. The difference is that you might have an MRI, but I’m lucky I had an MRI for a knee injury once so I knew roughly what it was and you had to do a few extra things whilst I was doing the MRI. Spinal lumbar puncture, that was my biggest concern, having something like that. Having done it, it was quite simple, gross to think about, but I don’t know. It’s a little bit off-putting to think I would have to do it again but I didn’t feel anything when I did it.
 
It’s just like going to the doctors and they want to take a look in your ear or something, it’s just plain medical testing, and if you don’t have a fear of anything like that then it’s just like normal really, I was very confident doing it.
 
How was your experiences with the researchers and the doctors you met there, and did they tell you about what the study was aiming to do?
 
Yes, all the way through, they sit you down, brief you and ask you, and then you’re with them throughout the whole day. So the one guy that was taking me to each test, or doing each test, I could ask any questions throughout the day and my partner could, so, yeah, things were quite simple. Definitely beneficial without a question, to have somebody that’s primarily fighting or researching against a disease, to be able to ask them questions is invaluable.

All I had was a date that I was going to see them again, and I had asked them to, and they had asked me in the previous appointment how I wanted the results presented to me and I said you know, “I just want it told to me straightaway, I don’t want any niceties around it, just get on and tell me straightaway”, and again, they’d offered me a chance to have somebody there. I think I’d asked somebody different to come with me but they couldn’t make it, so I went to the appointment on my own.

I can’t remember if it was the counsellor and the doctor or just the doctor, I think it would’ve been just the doctor. So the doctor sat me down straightaway and was like, “You’ve tested positive for this gene”… Yeah, I think, I just felt like my hand was in my mouth, but I couldn’t comprehend it really, I think kind of felt relieved to know, but I got the result and I was just, it felt like I knew already. I think I was gutted, there was no question about it, I think I was gutted, but you can’t do anything about it, so you just have to plan going forwards.

So I took that result very quickly, there was nothing she could do or say that would sort of change it and you know, I didn’t cry, I didn’t do anything, I just, I kind of just took it , and I decided to sort of leave really. There wasn’t anything else; it was you know, I couldn’t really talk about it. So, I went and sat in my car in the car park for a little bit and I just yeah, I don’t know, I just took it in, and I think I was absolutely gutted, I was really, really gutted.

So I went to the local hospital, and it was a bit bizarre because you’re going into the outpatients section and you, you’re literally sitting down with people that are being discharged for different things and you don’t feel like you should be there sort of thing but you know, you’re there and you’ve kind of just got to get accustomed to it I suppose.

I went into this little room with the counsellor that approached me and she was just finishing her training as a counsellor, there was another counsellor in the room and they sat me down and sort of just spoke about what’s the process is, what my understanding of the disease and the gene at that point was, and basically you’re there to be assessed really. Are you a suitable person to find out the result? Because if you find out that result and you take an adverse reaction to it, you know, but they don’t want that to happen, they don’t want you to do something stupid in your life that could cause you more harm or cost I suppose to society.

So I think you’re very conscious when they’re asking these questions, “Why do you want to be tested? What do you want to know?” things like that, and they must ask you like three or four times if you want to be tested, and I felt if I didn’t say “Yes” every time they probably would’ve asked me to come back, you know, but I don’t know what would’ve happened but that’s how I felt. But it was handy because they also had the knowledge that I didn’t have on the disease, life insurance, the other elements, I can’t even remember all of them at the start of this because it felt like ages ago but it’s not really.

Very informative, it was nice to be able to talk about it really because I don’t get to talk about it with anyone professionally. But you kind of, you also, you’re also on edge a bit I think because they ask a lot about your private life and they want to know what else is going on in your life that is weighing on your mind, what your job situation is, what your family think, what your partners think, what your, health is like, you know, they ask a lot of questions because if you’ve just lost your job or you’ve, you know, your family are giving you a hard time, anything like that really, and then you get a positive result in the test it can send you down that road that they don’t want you to go down. So again, they were looking for excuses not to give you the result you wanted, I think, well that’s how I felt anyway.

So she decided that they would test me in November and I would get my results in roughly three to four weeks, which was quicker than I was expecting, I was expecting it to be six weeks or something like that. So I decided to go ahead there and then with the next appointment to be the testing appointment. So November, she’d asked my counsellor to come into the appointment with her, so there was the doctor, the counsellor and myself. I’d asked a friend to be with me actually for that appointment but they couldn’t make it, just because I think it would’ve been nice for me to have somebody to talk about because at that point it, it had weighed up massively, it was the final appointment before getting tested and I don’t know, I think I felt a lot more vulnerable in my circumstances, yeah.

So I… then I went through with it, I gave a blood sample, which was fine, they just take your bloods and things like that and there wasn’t really much they could talk about because we had covered it three or four sessions beforehand, I had asked all the questions that I needed to ask and wanted to ask and I had no new questions really, so it was a very quick sort of, “Are you sure you want to give the sample?” “Yes, take the sample”, and that yeah, it just went very, very quickly.

So following that I went away, alright confidence-wise that it was out of my hands now the you know, the decision was going to come back whether I had it or not and there was nothing I could do about it, and I was quite happy about that to be honest because I just didn’t want this ambiguity over my life. So yeah it, it was a long sort of three or four weeks waiting for it.

So when I had a, when my father died I put it to the back of my mind really and tried to live life, but you can’t really, you’re constantly seeing the odd glimmer of MND news or whatnot. And the following summer, so 2018, 2019 I decided to start the motor neurone disease process really for testing, because I always had this uncertainty in the back of my mind that I needed to know, I didn’t want to pass it on to children, I didn’t want to have all these questions at the back of my mind for the rest of my life.

So I felt I was quite brave in approaching my GP and explaining what had happened to my father, and my auntie, and it was, it was good actually because my GP, he helps out in neurology at the local hospital so he had quite an interest in it and an understanding, and talked me through what the process is really, that he would refer me to the local genetic counselling service, and that they would basically contact me and go from there. And really it was a waiting game from that point. I felt a lot happier and relieved to be able to talk about it with somebody a little bit.

From the point that my father, I found out my father’s diagnosis I had for that entire year and a half, whatever it was, decided that I should get tested, but I was weighing up whether it was worth it, and you’re constantly weighing it up every week, like, “Why, what do I get out of it? What’s the risk of knowing?” It just came to a point in August where I was like, “Look, I need to know”, like even if there are like massive cons to knowing I think the pros… Like I did, I like weighed up whether being able to plan for something horrible happening in your life is better than having it randomly happen and it outweighed it massively and I just decided there and then to do it.

I was at a time in my life where I felt you know, I’m 24, 26, and, no, I was 25 at the time, yeah, I was 25, and I was thinking, “If I can have 25 years of knowing and living my life normally, happy and comfortable with that, great”, rather than 25 years ahead of me thinking, “Do I have it, do I have it? Do I not”, you know, I think it would’ve been worse. So that’s probably what weighed up my decision.

I didn’t want to continue a path down a life and build a life for me that could be destroyed by motor neurone disease. I’d much rather be able to build a family and protect it potentially from motor neurone disease than not, and it was purely the fact of having children, I did not want to have children that would lose their father and then find out that they could be at risk of being, suffering from the same disease, that is just horrendous.

So, I think I decided at that point, because I didn’t know you could prevent it, I had decided at that point that I would find out if I had it, I would then not have children, and if I didn’t have it, I would just live my life normal. Then I found out that you can have this special IVF, I think it’s RIVF, and that’ll take, solve my problem. It doesn’t solve your problem because you know, you only get one child out of it and you have to pay for like the IVF for any other children and it takes a year to go through the process and things like that, but you are still able to have a family.

I think it’s a no-brainer to, if you can go through a process where you can filter, your partner and your child from being vulnerable to something that could devastate them immediately or later in life it’s, there’s no choice really. It’s a weird case of eugenics I think in how you can test a population for something and making decisions around it, but it makes sense and it, if it does one thing to stop people passing on a horrible gene and makes society better then it, I think it should be worth it really.

It definitely brought up some eugenic sort of questions in my head, but we won’t go down that road sort of thing [laughs]. It’s just a weird thing because it, it’s such a massive thing to be able to control whether someone’s born with something or not, and I think it’s just weird to think that I, as a parent, will have a 50% like decision in that, that life being born and how it’s born, it’s just weird. But it was a massive part of why I wanted to get tested and I was really grateful for knowing that those are the options because I didn’t know they were the options, and if I hadn’t gone through the counselling, I would never have known that.

I had the appointment booked with the GP and he was bummed for me, like absolutely gutted. It was horrible because he remembers when you come to, and you know, it’s just horrible for him as well. But I said to him, “The reason I’ve come to see you is I want to be able to monitor my life going forward, I want to be able to track how I’m doing because I don’t want it to come as a surprise, I don’t want it to be just completely random. What I want is to be able to come to you each year for a health check. You check reflexes, you check BP, whatever, you do your thing, and I come to you and I say, ‘Look this year I’ve had 20 muscle spasms’ and something like that that just seems bizarre, it’s more this year, and we can just record that and maybe do a quick capacity test to see if that’s changing”.
 
That was my view when I went in and he was like, “We can do that. What we’ll do is we’ll do just a standard health check on your birthday every year, like around your birthday”, so that’s what we’ve agreed to do. But I still feel like I’m pushing him for that, like he didn’t have to ask for that. I felt that should be something that should come as standard really because I think it’s important for people to have that, but when you’re diagnosed with something that could happen, you’ve got that comfort of knowing that your GP is there to support you. Because it’s not like I’m going to be coming to him every five minutes and being like, “My arm feels a bit heavy today” or whatever.
 
I only want to come just so he can monitor my health because if in 20 years I suddenly have something dramatic happen then he can say, “Well actually for the last 20 years Calum has been coming to me and having no change in his life whatsoever, why has it changed this year? We know he’s got something diagnosed, let’s look into this in a bit more detail”. I would hope that they would start to do better testing around that. I don’t know if I’ve got high expectations for my GP and the service that they’re supposed to provide me, but I’m just hoping it would benefit not just them but me.

Things like life insurance and writing wills and things like that, I just, I work in law so very versed, experienced in the law around it. But I can see the value of doing it but I don’t feel that I’m in a position in my life right now that I want to write a will, and I don’t really want to… I’m not, I wouldn’t say that I’ve got anything major that I want to leave people you know, like, but because you’re involved with something that could kill you, I feel like it’s definitely something that I need to get in order but I just don’t want to do it…

Things like life insurance has been massive on me recently, I really want to consider taking out life insurance or critical care cover, but because I’m so young, most policies don’t let you do longer than like 40 years and you add 40 to 26, 64, it might run out a couple of days before you know, if I’m going to die in late 60s, it doesn’t seem like there’s any point, but if I take it out now it’s cheaper. So you know, I feel a bit tied that I need to sort something out to provide for others or sort out any debts that I might have like a mortgage when I die, but I won’t be able to do that because I’m too young to do it and get the benefit. It’s also a cost monthly that I don’t really want to incur but I might need to.

Things like critical care cover, if my father had had that, I think it would’ve made his life, end of life, a lot more comfortable. He was, you know, middle class sort of wealthy person, but the cost of the care that you require when you are literally disabled from your eyes down is horrendous, and the emotional burden that puts on your relationships and you know, you can’t even go to the toilet properly on your own or anything like that. It requires a lot of equipment, it requires a lot of adjustments to your current lifestyle that are expensive. So something like that again would be handy to have.

Something’s holding me back, I don’t know what it is, whether it’s just a hesitation or reluctance to accept it, but I need to write a will, I need to get life insurance, I need to put some money in place to cope with diagnosis, and I need to put money by if I want to have more children after IVF. Yeah, I don’t want to do it now and that’s a horrible thing, but I am aware that I need to prioritise that, I just haven’t got around to it. I am doing it but I just, I feel like a 20-year-old that’s been robbed of my years, like I really do.

I think one of the things I would say to you is how the result is presented to you is ambiguous because they test you and say you have it, but they do it on a marker of repeats in your gene, so do you have ‘X’ amount of repeats in that gene, and if it’s over a certain mark the NHS classes you as “has it”, whereas in other countries the mark is lower.

So when you’re researching about these sort of things you don’t really know where you stand against other tests, and there’s no like great international testing standard that says people have got it if they’ve got ten repeats, whereas Calum’s got 40, so it’ll go over. And that was really, really difficult to comprehend that yeah, so science is all great and whatnot but actually we can’t test properly to know what the result is.

So, I asked the genetic counsellor in my result’s appointment to request a detailed breakdown of my results. So instead of just saying I’ve got 40, and I think I asked for a breakdown of my father’s results and my results to see how many repeats there were, and I can’t remember what the other thing I asked for. Basically I wanted to know how many I had, because basically the test is “have you got more than 40, if you’ve got more than 40 you’ve got it”, but I didn’t know how many I had. So I said, “Well how many did my father have and how many have I got? Have I got 41?” because if I’ve got 41 my opinion is going to be, “Well what’s the difference between 40 and 41, am I just at a lower risk?” whereas you could have 39 and 40 and I’m thinking, “Well, am I in that category that I’m at risk if I was tested in a different country?” you know, so I wanted to know.

So in February, the counsellor came back to me with the results. She’d sent the tests to [hospital] to do a detailed breakdown and they came back and said that they couldn’t identify how many I had because different parts of the body have different amounts, so the repeats in one section that they took the blood from in my arm could be 40 bloods, but I could have less in my neck or wherever.

So, they did test but they couldn’t count every repeat because it just goes on forever, so I have no idea how many repeats I’ve got. I don’t know if it makes a difference like Huntington’s disease where you have a different stage. They say it doesn’t, but some research says you’ve got it at different rates. So, I felt in worse space for knowing that I had it and don’t know the results, which was a bit annoying.

So initially he had these different symptoms like, and the dementia side of it, had you not realised it was related?
 
No, not at all, I had no idea. I didn’t even know what it was. Like the example I gave where he forgot who I was, my sister had come over from Australia with her boyfriend and we had met up prior just because we had some concerns about my father’s care, and we decided to go and see him without the boyfriend, and he was going to join us a little bit later.
 
I walked into the room with my sister and we were stood by this huge window in [city], late evening in winter, and he didn’t recognise me, he was like, “Oh, is this your-”, is this my sister’s boyfriend, and I just looked at my sister like, “What?” and then like my dad’s partner had played up that it was the light behind me and then we were like, “No, it’s Calum, it’s me, it’s your son”…
 
They were like, “Oh, it’s just the light behind you”, they just brushed it off. I think he had been suffering a lot worse prior to that point, but because he was able to converse a little bit more normally, it hadn’t really played into my mind that C9orf had a dementia element, and it didn’t hit me until the day, the Monday after my father died, he died on a Friday, when I went… A load of things had happened prior to that point, like my dad had called my sister ‘Nan’ on the phone and things like this. Because I was only seeing him for short amounts of time you didn’t see it, and then I went and rang the GP, the day my father died, just to have, I said I had concerns about his capacity and he had told me he couldn’t talk about my father’s medical situation properly because I hadn’t been given authority, but basically my father’s GP said, “We’re looking into, don’t worry”.
 
Anyway, when the Monday came round, by that point my father, I’d found out my father had died, I went and saw the GP and I said, “Thank you for speaking to me. You said you had these concerns, can you tell me what they were?” and he said, “Well here’s the diagnosis letter”, he gave me a copy of the letter and he said, “Read what it says, it says motor neurone disease, C9orf inherited thing with frontotemporal dementia”. My father – and that’s the same letter that said, “You need to speak to your kids about this”. And I was just blown away to think that there was a dementia element to it that I had no idea of.
 
It was a relief to know that was what was causing it, but yeah, anyone that knows what dementia’s like, sometimes if you don’t know what it’s like you have no idea what it’s doing, you have no idea if the person you’re speaking to has the original memory, and it’s weird, it’s really, really weird. So yeah, I didn’t know there was an element to it, I found out after he died and it was a shock.
 

I find it awfully confusing, there’s so much research out there and when you do read into these things it changes your perception of things that you’ve been told or things that you know… I’ve met people in this process and some have been of the opinion that “It won’t be curable for me and I’ve got to live with that”, whereas others like that doctor was saying, you know, it could be in my lifetime that it can be completely cured.
 
So to read into something specific like how your test is, then it just confuses the hell out of you because every research is different, every journal article, everything. And it’s just trying to find the middle ground – what are they all saying that matches? But to do that, you have to read ten articles or whatnot. Time consuming, it’s really time consuming.
 
And I’m a very sociable person, I live my life and I work and if I spent hours reading these things that don’t really have a tangible benefit in life, I don’t really gain anything from knowing. It seemed pointless to me.

So when my sister called me that day to say my dad had been diagnosed with it, that was the day that we, we knew it was hereditary. So that was the first inkling of hereditary at all. It was because I think my dad said it was really rare that two people in the same family line next to each other can get a hereditary condition, but, well not hereditary, a random motor neurone disease, because it’s so random, but for two people in the same line to get it next to each other is ridiculous. And that, that was probably the only thing I knew about before my sister rang me and said, “Yep, it’s hereditary”. So yeah, that was it really, I didn’t really, yeah, I just thought it was unlucky I suppose up until that point that my auntie had had it.

I just remember being in the middle of my shift just absolutely heartbroken, not just for my dad but for myself and my sister. And it was massive, it was a huge kick in the teeth because up until that point my health was immaculate, I don’t think I had anything wrong with me, I don’t get any problems you know, and to be told you could potentially be at risk of a disease that could kill you and be horrendous as it does, it’s just shocking, really, really shocking. So yeah, I felt horrible that day.