Richard

Richard is 46 and works as a finance director. He is married and has two teenage children. Ethnicity: white British.

Brief Outline: Richard found out about inherited MND in his family after his mother was diagnosed with the disease and had a genetic test. Richard has developed a positive mindset to cope with his situation, and has decided not to have pre-symptomatic genetic testing.

Richard’s grandad died of MND when he was young, and more recently, his mother was also diagnosed with the disease. She was offered a genetic test and was found to carry the C9orf72 gene variant, which confirmed the family’s fears that it was an inherited form. Although Richard started to consider what this meant for himself and other family members, he was mainly focused on supporting his parents at this difficult time.

After his mother died, Richard began to think more about the possibility that he could be affected by MND in the future. He became aware of possible symptoms, and was worried that his speech had changed. He went with his wife, Helen, to see a consultant neurologist, who reassured him that he did not have the disease. Although MND is always ther, this was a turning point for Richard where he managed to get into a positive headspace. He accepted that he could develop MND in the future, but until that happens, he tries not to let it be a burden. Richard’s experiences have affected his attitudes towards life, and the family try to do as much as they can, in terms of holidays and spending time with friends and relatives.

At his appointment, the consultant raised the possibility of pre-symptomatic genetic testing. Although they hadn’t considered this before, Richard and Helen decided almost straight away not to pursue testing. Richard felt that being tested would make him more concerned about possible symptoms, and since you can’t really do anything about i, he does not want to know his genetic status. Meeting someone who had received a positive result reinforced his belief that he was in a better place mentally not knowing. However, if a treatment was developed to prevent or cure the disease, Richard would reconsider his decision. He is hopeful that this may happen, especially for future generations.

Richard and Helen have not yet told their children about the family history of MND and the possibility they could have inherited the C9orf72 gene variant. Richard feels that sharing this information is important, especially when they come to make decisions around starting their own families. He questions whether it would be worth waiting to see the scientific progress over the coming years; if a preventative treatment was developed, he would tell them so they could benefit from that. Given the current situation, however, he is not sure when the right time would be, as he sees this knowledge as a burde that they would have to carry. In the future, Richard would consider seeing a genetic counsellor to think through how to have these conversations.

Richard and Helen have attended an information day for families affected by inherited MND. Richard valued meeting others in a similar position, who could understand the implications of the disease. Although he is keen to help others where possible, he also doesn’t want to rock that boa, as he feels he is in a stable place where he is able to cope with his concerns. Richard recommends that other families seek advice from genetic counsellors and doctors when they feel they are ready. He emphasises that healthcare professionals should consider the emotional impact of MND on the wider family, especially those at an increased genetic risk.

Richard emphasises the “mental baggage” of living with an increased chance of developing inherited MND. It’s important for healthcare professionals to acknowledge this “bigger picture”.

Age at interview 46

Gender Male

It would be just to be aware of how much of a mental baggage it is, especially if you’re in the scenario that the genetics have been confirmed and you’ve got siblings or whichever family members, that they’re almost seeing a potential, a real sort of potential outcome in their life, albeit not confirmed, but… That’s quite a big emotional scenario to deal with, that you’re, without getting too dark about it, you’re seeing how you’ll die, basically, and that’s quite a big emotional baggage to have.

Albeit, I’d be surprised if most people weren’t in the space that I was in, that you can’t feel too sorry for yourself and get too emotional about it, because one of your loved ones is dealing with it first-hand, but it’s just having that, I guess, acknowledgment of the emotional baggage of the bigger picture, as well, for those individuals.

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Richard hopes there will be a “eureka moment” in MND research. Until then, he doesn’t follow it too closely as he doesn’t want to be “triggered”.

Age at interview 46

Gender Male

There’s a bit of me that almost just wants the eureka moment to be announced and then I can just go and grab hold of that. I almost don’t want to build my hopes up too much. It’s… I just, selfishly, yearn for that day where I open BBC News up on my way to work and it’s “Breaking news: MND’s nailed.”

So yeah, I don’t… It sounds perverse, doesn’t it, that I don’t stay that close to it given the impact that could potentially have on my life going forward, but again it’s… Because if I, whenever I dig around, I potentially find something that triggers something that I don’t want to be triggered… it’s almost: “Well let’s just wait until there’s something really concrete out there, then I’ll be very interested.”

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Richard is positive about research progress in inherited MND, which makes part of him question whether it is right to give his children the “mental burden” of knowing about the family history.

Age at interview 46

Gender Male

It feels we have a duty of care to get a view on what is the best conversation to have. So, is it nothing, given that sort of burden piece, the mental burden piece, especially at a younger age? I think as I sit here, I think back to where my headspace was in my twenties, would I have then, have been able to deal with it as I have had now? I’m not sure I would. So that’ll have to be a consideration. Because it is…Yeah, it is a big thing to have carrying round with you and also, you only really want to be carrying it if you have to.

I think, as well, there’s a bit – and this may be deemed irresponsible, I don’t know. But if you think about how the disease affects people, so it’s more often than not in later life. So if you think about the timeframes involved with my kids’ kids, and where the medical bit is now, there’s almost a bit of me that says, “Why burden them with it at all?”

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Richard values the support of his close friends around inherited MND. It is sometimes easier to talk to them about his feelings and concerns than members of his family.

Age at interview 46

Gender Male

Most, if not all, of my close friends I have spoken about it to them. I think part of it is that my strategy and sort of almost getting them to support me in that as well, in terms of this is where my head’s at with it all. Interestingly, a couple of them got quite upset when I was having that chat with them in terms of, “I’ve got this scenario where I could or could not have the gene and here’s what it means.” Some were like, “Yeah, that’s pretty crap, isn’t it?” sort of change the conversation a little bit. Whereas others, sort of want to find out more and, yeah… As, I say, some emotion flying around, as well, so… 

Helen and I have had long emotive, call it what you will, discussions about this obviously for the ramifications of our relationship and on our kids. But I’ve… outside of Helen, I’ve probably spoken to friends more than family.

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Not knowing whether he will develop MND in the future has shaped Richard’s “ethos” in life. He emphasises doing as much as he can, so if he is affected he won’t have too many regrets.

Age at interview 46

Gender Male

It does govern how I live my life a little bit. So, in terms of holidays, in terms of meeting friends… Helen’s of the same view, as well, just try and do as much as we can because we don’t know what, as I say, at what point in time will that coin toss happen and which side will it fall down on. I think as well, at some… A couple of mates who died quite young in their thirties, and again that just added to that and then seeing what’s happened to my mum just moulds that ethos of life, really, that… Sometimes, it’s like, “Well, should we really have gone on that holiday? Did we really have the money?” Hey ho, there’s bigger fish to fry.

There’s very little point sitting in this living room moping around and waiting for that day to come. So yeah, very much in that space of if it’s going to get me, it’s going to get me, but when that point comes, if it comes, then I’ll be able to look back and say, “Well…” I won’t have too many regrets.

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Richard worried that finding out he carried the C9orf72 gene variant would put him in a “dark space” every time he felt that something wasn’t right.

Age at interview 46

Gender Male

Yes, I could be carrying the gene. As I say, it’s that toss of a coin. But until you know that, why burden yourself with it. So I could be tested tomorrow, find out I’ve got it, then going back to mind playing tricks on you, then I think I’d be in a… quite a dark space of every time I felt a muscle twitch, every time I felt my speech wasn’t right, it would be like, “Crikey, it’s happening” and… Don’t get me wrong, that is still there a little bit; it’s just, it’s human nature, isn’t it? And, as I say, close after my mum passed away, it was a bit more prevalent and led to that discussion, but that’s been quite a defining moment in terms of how I manage it is… just stay positive.

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Richard has “trigger points” which bring worries around developing inherited MND to the front of his mind. He has to push them back to a space where they don’t rule his life.

Age at interview 46

Gender Male

It’s just always there to a lesser or greater extent. I think whenever there’s a high-profile diagnosis that hits, that hits the press… So, there was the Doddy Weir stuff. And again, there’s been stuff on the TV with the ‘Sports Personality of the Year’. That… I always cry at ‘Sports Personality of the Year’ when they do the last award, but that just [phew] blew me out of the water, in terms of a bit about just his bravery and what have you. So I think that, there’s stuff that sort of brings it out like that, and again, there’s the rugby league guy who’s just been diagnosed. I forget his name. So, they’re, there’s those just little trigger points I guess.

When it’s at a steady state, as I say, I’ve moved it to a manageable place, where I can function without it really passing me, passing a thought on it. But, there will be those trigger points, and then obviously, you get stuff like Mum’s birthday, Mother’s Day’s coming up, anniversary of my mum dying – stuff like that. By default, then all of a sudden, it’s back at the forefront of my mind, again. And I have to find myself going back to my way of dealing with it, so it comes to the fore, and then it’s like, “Oh, no, what you doing?”. On the train to work thinking about, have I got MND, or not? Push it back into that space that says, “No, don’t let this rule your life. It is what it is, let’s stay positive.”

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When his mum was diagnosed with inherited MND, Richard “boxed it off” and focused on supporting her. After she died, he wrote to her neurologist to ask what gene had been identified.

Age at interview 46

Gender Male

It was obviously a very raw emotional time, as well, so… but I think I mentioned earlier, it was, it sort of… So the news broke it was, okay, we knew mum had MND, now it transpires its inherited MND. That’s when I sort of boxed it off to revisit it. So, it was undeniably there, and I would start, I did a lot more reading about it and…

So I did that for my self-interest and getting as much knowledge as I could. But at that point in time, it was all about how can we look after my mum. So there was nothing that, it wasn’t as if there was a road I could go down that would sort of help my scenario. That was what it was, and yeah, I’d be lying if it wasn’t on my mind. But it was almost, let’s park that over there. Let’s look after my mum and do what we can with… to help my dad, as well, and then almost let’s revisit that once that’s the only thing that’s on the table.

I think an indicator of how little it was discussed was we had to write to [consultant neurologist] to find out exactly which gene it was, just for our sort of curiosity and how I manage it myself going forward with my family. So, I think that calls out how little it was discussed. It was: “We’ve had the test; it’s genetic; let’s move on with life.”

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It took Richard some time to get into a “positive headspace” in managing his thoughts around inherited MND; now that he is there, he is reluctant to do anything that might unsettle that.

Age at interview 46

Gender Male

I think to a certain extent where my head is, is less is more, a little bit, because I’ve moved it into a relatively positive space in my mind that it’s a toss of a coin: I’ve either got it or I haven’t, and, then, what will be will be.  To a certain extent, I don’t want to know much more because I could find something out that says, “Well, actually it’s not as clear cut as you think.  It’s… there’s other factors at play.” And maybe that’s a bit of ignorance on my part, but because it took me a while to get it to that positive head space, in terms of that, what will be will be, live life to the full. Because, again, until I know that there’s something that can really be done about it, why go into a greater level of detail to a certain extent?

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