William

Age at interview: 40

Brief Outline:

William is 40 and is a medical worker. He is married with two young children. Ethnicity: White British

William’s dad and grandad died of MND, and he found out at university that there could be a genetic cause of the disease. Although this has been in the back of his mind over the years, he has not sought further support or pre-symptomatic genetic testing.

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William’s dad was diagnosed with MND at the age of 45, when William was in his teenage years, and unfortunately died around two years later. William was aware growing up that his grandad had also died of MND, but whether there was a genetic link was not clear. His dad had a genetic test which came back negative. However, when William was at university, his mum sent him a journal article about MND. At this point, he realised that his dad’s negative result did not necessarily mean that he and his sister were “safe” from the disease, as there are other genes that could be responsible for the disease in his family. 

William sought further information and advice about MND and how he could be affected. He saw a genetic counsellor, who told him that his risk was 5-10%, though he questions whether more might be known now than it was then. He was referred to a community psychiatric nurse, but he felt that despite good intentions, these sessions undermined the legitimacy of his concerns. From these experiences, William took away that he should just “get on with it”. 

For William, the possibility that he could be at an increased chance of developing MND has been in the back of his mind over the years. His experiences have affected his approach towards his career. He finds it hard to imagine a long career ahead of him and is reluctant to compromise on his quality of life now to progress professionally. There have also been times when he has experienced low-mood and anxiety. He has questioned the futility of life, and in the past has had suicidal thoughts. 

William has not pursued pre-symptomatic genetic testing, as he does not believe it would be beneficial to himself or his family. He highlights the uncertainties around testing; even a positive result would not tell him if or when the disease would develop, or how it would affect him. Even if he could find out this kind of information, he feels that knowing would be “pretty grim”. In the current context where there is no cure, he would worry about the impact on his mental health, and the implications for other relatives. William might consider genetic testing if his family had strong feelings about it, or if a treatment were to become available.

William spoke to his wife about MND when they were planning to start a family, and they decided not to seek further advice. He now wonders if he should have pushed this discussion a bit further, as she has not experienced the disease first-hand. William also brought up the possibility of genetic counselling with his sister before she had children, to make her aware that there might be reproductive options available, but he does not know if she pursued this further. Although MND is not a “forbidden subject”, it is not something he really talks about with his family. 

William would like to see clearer processes in place for those seeking information and support around inherited MND. He hopes that healthcare professionals working with people affected by the disease will consider the family context of the person they are treating. There should be resources available for families- including children- who want to talk about what they are going through, with somebody who can understand. He encourages other people in a similar situation to accept help.

William’s dad died of MND when he was a teenager but tested negative for the SOD1 gene variant. After reading a scientific paper some years later, William realised that he could be at risk of developing the disease.

There was a review article in a journal about motor neurone disease written by a specialist in Sheffield. And my mum passed it to me, just kind of in the way that, “Oh, you might find this interesting,” which was just a bit unusual because it wasn’t something we’d really talked about in the family. And in there was comments about inheritance and how much, how little is known, really. And I have to say, at that stage, I remember that being quite upsetting… My understanding was that the gene test had been negative and that we were basically safe as far as we knew, and then I was getting forwarded this article by my mum, saying that actually you’re not safe. Well, not likely. So at that stage I went to genetics locally.
 
So yeah, I went for an appointment there and sort of discussed some issues a little bit, and they weren’t too… I mean, they were well-intentioned but maybe not all that helpful, to be honest. They went back to the hospital my dad had been seen in and asked about the genetic test he’d had, and they were unable to trace anything. And it was unclear to me whether that meant that he hadn’t actually had the test or whether it had just been lost in the records somewhere. And they weren’t really, we didn’t really further explore whether I could be tested at that point. And it’s not something I’ve come back to, and that goes back now sort of 20 years ago, that I was at Genetics. So, things will have changed a lot since then.
 
I’m not sure that would really be very helpful to me. And to be honest, I would probably rather not know. I mean, it wasn’t… I think even if I had a bit of information that could say I’m definitely going to develop such and such at such an age, that would be pretty grim. And then just to add in this sort of uncertainty of it, where you might do or you might not, or it might be something a bit different, you know, that would be even worse, kind of thing. So, I just think its best just to leave it alone at the moment, yeah.

 

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.

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.

Whilst others might assume they have a long career in front of them, William finds it hard to think about the future. He is reluctant to compromise quality of life to progress professionally.

So, people are always sort of wanting you to get up the career ladder and do stuff and do amazing things and sort of really push yourself. And it’s all very well but do I want to sort of burn out my quality of life in the next few years, and then discover that actually I get unwell, and then it was all a bit of waste of time, you know? So, I think, I think there’s always an assumption from others that you’re going to have another 15, 20 plus as a good long-term career investment, but it might not be, you know? So, if I didn’t have that possibility in front of me, I suppose I would think of myself, “Well, where am I going to be when I’m 60? When I’m 70?” And I suppose I find it quite hard to think about that at the moment, you know? I think it will start weighing more on my mind when I get to the kind of age my dad was, and that’s just a few years away, really, to be honest.

William would be concerned about the mental health impact of finding out he carried a gene variant linked to inherited MND. Knowing could be distressing for him and his family.

At the moment you’re talking about an untreatable, fatal condition and you know, what effect would that have on somebody, knowing that that’s going to happen? And I’m not sure that that would be, that would be positive. And I’d worry about the mental health side of things, to be honest, like I think if I got, you know, if somebody came along and told me that that was definitely going to happen to me, I’m not quite sure how I’d react to that, and I don’t really want to find out, to be honest.

It would just be probably quite distressing for me, but also people in the family might find it quite hard, I think. You know, it just would be really tough, and it would bring back all those sorts of memories and things, yeah.

At the moment, you know, I think there’s not really a clear benefit to me or to others for pursuing it, and I think there’d be quite a lot of negative sides, you know? That would extend out to my sister and things as well, and it would… I don’t think, you know, my mum doesn’t have very good mental health, put it that way, and I don’t think she’d cope with that. And you know, my sister’s got young children, and you know, if I had the gene, then that would, that would be pretty terrible for them, you know? So, if I thought it was something that was going to bringing benefit, I might do. But I think, thinking about all those things, I tend to be feeling that it wouldn’t be that positive for us as a family, or for me personally.

William talked to his wife about inherited MND before they had children. He wonders if he should have pushed it a bit more, as he feels that her understanding of the disease was limited.

I think from memory I would just have said, just raised the issue of, “Is this something we should look into if we’re thinking about having a family?” and I suppose the concerns would have been that it might be something that affects the kids. And we just kind of didn’t at that stage and felt it was okay, and we just sort of went forward with things. We didn’t go into any sort of testing or counselling or formal information or thinking about any process there. Probably a lot of that comes down to gut feeling and how it’s, yeah… I’m slightly doubtful how much my wife, how much insight she’s got into what MND does to you and that kind of thing, really, but at the same time, she does know. She probably, she knows definitely on one level, anyway.
 
I slightly wonder if I should have just pushed it a bit more with her, to be honest with you. It’s hard to know because she’s not lived through that, she’s not really seen people with motor neurone disease, you know? It’s a bit different hearing about it than it is actually seeing it, you know what I mean?