The emotional and psychological impact of living with genetic risk

For most people, knowing that they have an increased chance of developing inherited MND in the future has some level of emotional and psychological impact. This section covers:

  • Living with uncertainty
  • Thinking about the future
  • Thinking about children and other relatives being affected
  • Mental health impact
  • Impact on sense of self

Living with uncertainty

Living with an increased risk of developing inherited MND means living with multiple uncertainties around the future, including whether symptoms will develop; when; what symptoms will develop; how they will progress; and whether there will be a treatment or cure by this time. People who had not had pre-symptomatic genetic testing also faced the question of whether they had inherited a gene variant linked to inherited MND in the first place.

Some people found hope in knowing that their future could map out in many different ways, like Anthony who said, “you have to be positive in life…and not dwell on something that may or may not happen”.

Jade points out that life is unpredictable, and no one knows when they are going to die. The possibility of developing MND doesn’t scare her because “it hasn’t happened yet”.

I guess it doesn’t scare me because it hasn’t happened yet. I can’t sit here every day of my life and think, “Oh my god, I could die of this,” because we could all die tomorrow. I’ve got friends that have died in car accidents and all sorts. They’ve been very, very young, and it’s just been very sudden and very out of the blue and it’s like, “Oh my god, that person should still be here and they’re not,” it’s horrific. But you can’t get up every day and think, “I’m going to die today,” you just can’t. And you can’t get up and think, “I’m going to get symptoms of motor neurone disease and die today,” because it wouldn’t, just wouldn’t happen like that. You have to live every day as though it’s a brand new day, the sun will come up tomorrow whether you want it to or not, and every day is different but, you know, every day could be the day you die because you just don’t know.

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Others found it more difficult to live with uncertainty, like Liz Z who described how, “it’s really a wait and see, which can be a bit like a sword hanging over your head”. Calum said, “the other flip of the coin is that you could never get any of it, so if you’re worrying about something that you’re not going to get like it’s just ridiculous, it just feels horrible”.

For the past 20 years, William has known that something “horrible and fatal” might happen to him, or it might not. He compares this uncertainty to the COVID-19 pandemic.

I mean mostly I don’t think about it too much. I mean, I suppose I’ve always just got in the back of my mind that there’s you know, there’s that uncertainty and that things may happen in the future, and I just don’t know. And I suppose it’s yeah, it sort of reminds me a little bit about the sort of Coronavirus pandemic at the moment in an odd sort of way, that you know, there’s a lot of things you hear now about how difficult it is to live with uncertainty and you don’t know what the restrictions are going to be in two weeks’ time, in four weeks’ time, in three months’ time. And you know, there’s this risk of nasty stuff happening that’s quite hard to communicate and people can’t get their heads around it, and “What is the risk to me? How dangerous is it?” So actually, yeah, and I’ve seen a lot of coverage of how difficult that is for people.

I mean, I suppose in a funny sort of way, that’s something I feel like I’ve just been living with for 20 years. You know, I’ve just sort of had that uncertainty that something really unpleasant, horrible and fatal might happen to me, or you know, it might not. And yeah, again, there’s some sort of similarities and uncertainties and you know, actually working out how much at risk you would actually be and all the ins and outs of the unreliability of the testing and that kind of thing as well, so yeah.

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Thinking about the future

Joe isn’t one to worry about what might happen in the future. Knowing he could have an increased risk of developing MND doesn’t affect his life; he plans to deal with it “as and when”.

It definitely hasn’t changed me. But knowing that even there’s a risk I could have it, I’ll just worry about that as and when it comes up, if it does. That’s kind of how I’m going to do… it’s the same with everything, I don’t sort of sit and worry about what could happen, it’s kind of like if anything happens, I’ll deal with it. Kind of what I do with it, so no, I wouldn’t have said it affects me at all.

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Not everyone felt worried about the possibility of developing inherited MND in their day-day life. However, it could be hard to think about the future. Liz Z explained, “it’s like having just a little thought at the back of your mind that challenges you when you’re planning for the future… almost like something’s sitting on your shoulder”.

People sometimes found it difficult to consider that they might not have the future experiences they had hoped for and imagined. This included individuals who did not know whether they had inherited a genetic variant associated with inherited MND, like Mary and Liz Z. Mary sometimes questioned if she would be there to meet her grandchildren. She said, “you have to assume you are, don’t you?”. Liz Z spoke of her fear of not being around to see all the things that her daughter achieves. Lizbeth talked about finding out she carries the C9orf72 gene variant as a “loss”.

Having family counselling helped Lizbeth accept that a positive pre-symptomatic genetic test was a loss of the future she had imagined. It took time to come to terms with the results.

When we had the, the family counselling they described that what the news that I’d been given was almost like a death sentence. So I’d been given news that equated to loss, and no signposting and no direction of what to do with that. Because I suppose what the test results gave me, it gave me, it gave me a loss, it gave me a loss of what might be, it gave me a loss of, a loss of maybe being a grandmother perhaps, it gave me a loss of growing old and grumpy with my husband perhaps, it gave me a loss of my, of some of my own sense of self. It made me a, a bit more cautious about the way I live my life.

So there’s all those things but I only know these things now. It would’ve been really useful to have somebody to talk to then to sort of like explore all that with me and someone to help me come to terms with it then rather than the way that I didn’t come to terms with it for a long time.

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Other people felt worried about the possibility developing MND, fears which were sometimes based on seeing relatives with the disease. Lillian said, “I’m not fearful of it, I’m fearful of suffering”; seeing her dad receive poor care has made her “terrified” of the disease.

For younger people, finding out about inherited MND could feel like a barrier to achieving milestones including meeting partners, marriage and children. Adam said, “you just assume that you’re not going to get those chances.” Calum felt less secure in his relationship and described how “you feel very vulnerable that people will walk away from you”. Losing his own father in his early 20s, he felt more rushed to have a family himself because he didn’t want them to lose him at a young age. Before finding out that she had not inherited the C9orf72 gene variant, Kirsty found it hard to think that having a family might be more complicated than she had previously imagined.

Lots of people felt reassured by research progress, like Harriet who said, “If that wasn’t happening I’m sure I would feel differently…it’s a comfort and it’s a hope”.

Thinking about children and other relatives being affected

For some people we spoke to, their biggest concern was the possibility of their children being affected. Louisa and Jade felt a sense of guilt at the thought that they could have passed on a gene variant linked to inherited MND. Although people were worried about their children, they reminded themselves that their children might not have inherited the genetic variant. They often felt hopeful that there would be a treatment or cure to prevent the disease by the time their children were older.

Paul’s biggest worry is the possibility that he could have passed on a gene variant linked to inherited MND to his children. He is quite “fatalistic” about developing it himself.

So there is a risk, there is, of greater concern to me is the risk I’ve passed it to my children, and if they have children, my grandchildren. If there’s a worry for me it’s that. I’m quite fatalistic about whether I’m going to develop it, if I do develop it whether we have a diagnosis regime that spots it quickly, and if we do whether we have anything that will slow its progression in terms of treatments, or anything which would actually negate the familial element of the disease.

In some ways I’m hopeful, being familial, there’s some pattern which actually scientifically I suspect is easier to focus on than spontaneous MND, and I see lots of research taking place, and I continue to monitor the research, and I see lots of positive progress in a number of studies, and to an extent I suppose at the back I’m a little bit reassured about that.

So I see the risk, I know the risk is there and I live with it. I’m not worrying about it. I see, I’m trying to treat it wholly rationally, as is my wife, which helps, and my children are similarly rational about it, and whilst we’ve talked about it briefly, it’s not a subject that they are focused on. Again, their minds may focus when they have children, or thinking about having children, and we might have to have a more detailed discussion. I might need to be tested, in which case I’m absolutely willing to. If it then comes back positive, I’m going to have re-evaluate how I think.

So I’m not saying ignorance is bliss because there’s a good chance I’ve got it, but I am saying I’m aware of the risk, I know the risk and the action that I’m taking is monitoring the progress but also making sure I maximise my, the things that I want to do in life now because MND’s not the only health issue that might damage my chances of doing so in the future.

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Some people felt worried that their children would have to care for them, especially when they had cared for their own parents. Before she received her negative genetic test result, Maggie was “much more worried about developing it myself on their behalf than on mine, because having looked after my mother and having looked after my brother, I don’t want them to have to look after me”.

Whilst parents worried about their children, it could also be difficult for children to think about their parent being affected.

On finding out about inherited MND in her family, Kirsty’s immediate fear was losing her mum. She found it hard to think of her becoming ill and suffering.

I think the thing that just was always at the forefront of my mind was just, “Oh my god, is, you know, is my mum, is my mum going to get sick?” I think that was just, that was always the biggest fear. Then, you know it’s the same thing as I suppose when you start to imagine, you know, like losing your parents and I think it’s something that everybody probably does at some point, I think it’s sort of a way of I guess, I guess it’s your brain’s way of sort of preparing yourself for something that is inevitable.

And, but then, you know, that’s, it’s always such a sort of distant thing and then this was suddenly making it potentially so much more imminent and more immediate and it was also the fact that I was thinking, I guess to a certain extent that’s it not, it just wasn’t fair. I know that sounds like it seems a bit sort of childish in a way to say it and, you know, life isn’t fair, but it’s just the fact that my mum had to care for her mum, and that would’ve been so difficult for her, and now her brother being sick, then the idea that she then might be sick as well, you just think like, no, that’s just, where’s the sort of justice in that kind of thing. And just…

I think there was always, right up until the point where we learned that she didn’t have it, that was always the thing that I think I was probably wrestling with a lot of the time, was just this idea of my mum being ill and my mum suffering and then also like, and you know the possibility, and like, and then losing her. Not that you’re ever ready to lose your parents but you know, losing her way, way, way, way sooner than you ever thought you would.

It became, I think that was more, even more kind of real after I visited John the last time because – I didn’t sort of see him for quite a long period of time, you know, I sort of, I saw him very soon after he was diagnosed and there was very, there were very few signs of anything, and then I, we saw him again and, you know, he was struggling with walking a little bit but he was still was walking and talking and you know. And he was very much still, he was still him, he was still John. Then when I saw him for the last time before he died it was quite shocking just how much he had deteriorated.

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Like other people we spoke to, Kirsty’s fears were based on experiences of seeing family members with the disease. She explained the impact of visiting her uncle, “I had a visual I suppose, I had a real life example of what the illness does to a person… before… it was just sort of abstract imaginings and now… I could actually imagine what it would be like for my mum”.

People also worried about siblings and other relatives. Because it was the men in her immediate family who had been affected, Robyn worried more about her brothers than herself.

Although most of the people we spoke to were living with the knowledge that they themselves could develop inherited MND, family members also lived with some of the same worries and emotions around the possibility that their loved ones, such as partners or children, could become ill. For Helen, whose husband doesn’t know if he has inherited the C9orf72 gene variant, “it’s something that both of us will always think about”. Partners and other relatives were often a valuable source of support.

Mental health impact

Worries over the inherited MND sometimes contributed to psychological and physical symptoms. Some people we spoke to described having periods of feeling anxious or depressed, and others had trouble sleeping or panic attacks. People used words like “hopelessness”, “fear”, and “overwhelming”, and a few people questioned “what’s the point of going on?”.

Robyn has struggled with health anxiety since losing her dad; before he died, her focus was on him.

Well at the minute, I mean I’ve never had it before… I’ve always had probably a bit of mild anxiety because I’m a total panicker, I’m a worrier and I’ve always had that. And I think that my dad dying, I think for so long I focused all my worry on to him and I think that when he died all of a sudden, I didn’t have anything to worry about, so my brain decided to give me something to worry about, and I would say at the minute it, it is ruling my life to be honest with you, it is awful.

I don’t, it’s not just MND though, my health anxiety is everything. At the minute we’re in the middle of a pandemic so it is through the roof usually and it, it, I need to get this under control. And I think when I, when I didn’t have it, like when my dad was actually, had MND and I didn’t have the health anxiety, I wasn’t really that worried about getting it, if that makes sense, it wasn’t something that I thought about very much.

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Over the years, knowing she could have inherited a gene variant linked to inherited MND has affected Liz Z’s mental health and the way she feels about herself.

Well at the time, I didn’t acknowledge that it was going to affect me. I mean, I was more upset about my mother. Over the years, it’s become much more of an influence on my mental health, actually. It hasn’t helped my mental health, and to have that lurking in the background all the time, it does make you feel a little bit hopeless and helpless. Because even now, even if I was diagnosed, I mean, 40 years ago, my mum was diagnosed, there was not a lot then. It’s no different now, really, other than the fact that, thank God, it’s being researched and they’re looking for treatments and cures. But for me, now working with patients with MND, knowing that I still might develop the disease, it’s quite difficult to be positive all the time. You sometimes think, ‘What’s the point?’ I’ll be honest. And I know that when I hit 50 and I started to put weight on, one of the things that crossed my mind was, ‘Well, I need to put a bit more weight on anyway, because if I do get MND and I can’t eat, I’m going to lose weight,’ so it really does change the way you think about yourself. I might never get it, so… but you just don’t know, you really don’t.

Although you think it doesn’t impact on your life, for the last 40 years I’ve lived with the possibility of developing it at some point. And because both my mum and her mother died at the same age of 57, the years from 50 onwards, I was living in dread of symptoms and every twitch, because I was expecting to die at 57. I didn’t expect to live past 57, which changed the way I viewed life, way I lived my life, the way I thought about life, and it was a huge shock when I got to 57 and I was still going.

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William describes having low mood and anxiety over time. He has struggled in the past with suicidal thoughts.

There’s maybe a slight assumption that things are all okay and then a condition comes along, and we deal with that. And I think what people don’t take into account is that you can be having quite a bad time even before something like this happens, and then other stuff, you know, it can all be there can be quite a wider context that can be not very good. So yeah, I definitely think so. I’ve not, I’ve not had any sort of specific diagnosed mental health conditions, but I think, you know, I definitely have had some degree of low mood and anxiety over time, definitely. Not to the extent where I think I would get any particular diagnosis or anything like that.

I did particularly a few years ago, let’s say I would have had a lot of thoughts about things being quite futile and, you know, this is going to happen to me, why is, you know, what’s the point in trying? That kind of stuff. And even if those sort of things aren’t right out there in the front of your mind and it’s not something that you really think about a lot, I mean, I think there is a bit of that in the back of your mind that, you know, well, “Why should I really be pushing my career or such and such when this may happen to me in two years’ time?” you know? And I suppose- I mean, not so much currently- but I have struggled with sort of suicidal thoughts and that kind of thing…Yeah, I wouldn’t say that’s a current sort of issue, but it has been over time, definitely.

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As William points out, there is a “wider context” in which people are affected by inherited MND; other circumstances and experiences are often involved. One person described how knowing she could have inherited a gene variant linked to inherited MND had made her existing mental health struggles and eating disorder more difficult to deal with, because this situation was “so completely out of my control”.

There are times where worries about inherited MND come to the surface, and the mental health impact of inherited MND can change over time and with changing circumstances. Sam felt “anxious and depressed” for a brief period after finding out about inherited MND in the family. However, over time they got used to this information and back to a place of being able to live in a happy and fulfilled way. The time after receiving a positive pre-symptomatic genetic test result was particularly difficult for Lizbeth, and she tried to end her life several times. Since then, she has sought professional support and managed to find a way to move forwards with her life.

People had different ways of coping with worries around inherited MND, including through counselling and talking therapies. Some of the individuals we spoke to felt there needed to be better support for people in coping with the emotional impact of living with an increased genetic risk of MND.

Impact on sense of self

Whilst some people we interviewed to didn’t feel that their experiences of inherited MND had changed how they thought about themselves, others described both positive and negative impacts.

Since finding out about inherited MND in her family, Kirsty has learnt that she is stronger and more able to cope than she thought she would be. For Louisa, going through the grief of her mum’s illness and finding out that she could also carry the C9orf72 gene variant has affected her confidence a bit. She sometimes feels like “a lesser person than myself”.

Adam, who also doesn’t know if he has inherited the C9orf72 gene variant, has found it troubling to think of his body betraying him. Jade described how finding out she carries the C9orf72 gene variant has reinforced her sense of being “flawed genetically”, but she tries to live by the motto “be perfectly imperfect in your own way”.

Louisa was more “reckless” after finding out about inherited MND in the family, drinking more regularly and being less thoughtful about spending money. However, it only lasted a few weeks until she thought to herself “don’t be stupid, sort your life out”. Calum still has a desire to live and achieve his goals but is more willing to take risks and no longer values his life as he did before he knew he carried the C9orf72 gene variant. Lizbeth, however, values her life more than she used to before she tested positive for the C9orf72 gene variant, and is more cautious about the way she lives her life. She says that inherited MND “runs through me like Blackpool rock”. She sees it as part of her story, but it doesn’t define her. Other people also talked about how their experiences of inherited MND have affected their attitudes to life.