Paul

Age at interview: 48

Brief Outline:

Paul is 48 and works as a police officer. He is married with three adult children. Ethnicity: white British.

Paul lost his mother to MND in 2016. Although the family were told that it was an inherited form, Paul feels he has yet to fully process this. Paul has decided not to have pre-symptomatic genetic testing, although this decision is under continuing review.

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Paul became aware of MND in his family after his mother’s cousin was diagnosed. She was told that she had an inherited form of MND, although Paul cannot remember exactly the name of the gene variant in the family. Shortly after her cousin died, Paul’s mother was also diagnosed. Having seen the disease, she found receiving the diagnosis difficult, and it was some time before she discussed it with her children. Over the course of his mum’s illness, Paul’s focus was on spending time as a family, and supporting his parents. At this time, the hereditary aspects of the disease remained in the background. Four years later, Paul feels the family has not fully grasped the implications of this. Since his mother’s illness, the family has looked back at their family history to trace the disease. Paul now believes that his uncle, who died quite suddenly aged 60, was probably affected too, although he was not diagnosed. 

Although Paul tries not to worry about MND, it is “at the back of your mind”. Paul and his sisters are aware of looking for signs of MND. He does this in humour at present, but feels this will become a more serious consideration in the coming years. Paul manages his situation by emphasising that there are many threats, from accidents to other health conditions, that can happen in life. He is grateful that his job will allow him to retire early and plans to spend as much time as possible enjoying life with family and friends.

While Paul has discussed inherited MND with his family, it is not something they focus on. Because his children were in early adulthood at the time of their grandmother’s illness, he did not have to sit them down and share this information; they have seen the disease first-hand. Although Paul is concerned about how they could be affected by MND, he feels that there is hope for people with familial forms, as there is lots of research and progress in this area. 

Paul has not had pre-symptomatic genetic testing. Since having the gene variant does not mean he would definitely develop symptoms, he doesn’t feel there is currently any benefit of knowing. He suggests that having testing would be “putting myself under an unnecessary cloud”. However, this decision is under continuing review. Genetic testing is something Paul may reconsider in the future, particularly when his children are thinking about starting a family. Similarly, he would consider testing if there was a preventative treatment available, or if being tested would help the development of treatments. If possible, he would prefer not to know his genetic status if taking part in future studies. 

Paul advises healthcare professionals that families may not want to know much about the hereditary nature of the disease at the time their relative is diagnosed. He feels he would have found too much information hard to process when trying to take in the news of his mum’s condition. Paul highlights that other people’s information needs may vary and suggests that doctors should direct people affected by inherited forms of MND to relevant websites, where they can control the information they see.

Although her cousin had genetic testing which confirmed she had an inherited form of MND, Paul’s mum did not share this with him until after she was diagnosed too.

So, it was very much an unspoken matter because my mum was quite quiet anyway, quite introverted. So, when her cousin suffered and was diagnosed, and I say suffered because by the time my mum wanted to engage with us, her cousin was in a hospice, and had gone through bulbar onset and was towards the end stages, but my mum never wanted to discuss the diagnosis, and she didn’t want to discuss the familial nature of it.

I never really had an opportunity to ask why because when my mum was talking about her diagnosis I was more interested in supporting her than saying, “Why didn’t you engage with us about this earlier?”, and, and about [her cousin’s] sort of position because mum knew at that time that [her cousin] had a familial DNA gene, but she hadn’t really shared that with us until she herself was diagnosed.

So my uncle’s death was unexplained, [her cousin’s] death was explained but to us later. So we were coming to terms, the familial element of the MND was masked by the fact of my mum’s deteriorating condition, looking after her and looking after my dad, it was there in the background but it wasn’t actually something we were really engaging with, and probably didn’t do so until after my mum had passed because that’s a roller coaster both with what you’re planning to do but in timing things before certain aspects of physical deterioration. So, I don’t think if I’m honest that even now four years later we’ve fully grasped the implications.

Paul wouldn’t have wanted lots of information on inherited MND when his mum was unwell; it would have been “swallowed” by his focus on supporting her.

I wouldn’t want to be swamped with information about the hereditary nature of MND at the time. I think professionally it’s appropriate to say, “There’s been an MND diagnosis, and we’ve identified a contributory gene, which is hereditary, it doesn’t have immediate implications for you. If you have the gene you may or may not develop the illness”, and that’s what basic information which is where I started was really important.

But if I’d have got a lot of technical information it would’ve been swallowed by the fact that I’m trying to process the diagnosis of my mum and think about how I’m going to support her and my dad and what contribution I could make from a distance, so I had to settle into a role, and that role was really , which was good for us, we were the, doing things different and the enjoyment bit , rather than the day to day caring.

So they’re two quite important messages. I’m not sure whether the health service can resource for the extended families of familial MND, a tailored service. I think the information that’s held on appropriate websites, if you can be directed towards that I think that’s helpful, because it changes over time as well and I don’t think I can expect my GP to keep up to date with it all; if I expected MND, somebody would expect something else. I think that’s partly our own personal responsibility as well. So, I think it’s about understanding as, as medical professionals would, and that’s my perspective and my needs, other people’s needs may well be different.

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.

The future is uncontrollable, so Paul would rather focus on making the most of life. He emphasises that “it’s not just MND that can blight older life”.

I don’t feel any need to know whether I have the gene or not, because if I have the gene there’s only, it doesn’t predetermine development of the disease, or if it does we don’t know when, so I will be putting myself under an unnecessary cloud. And I, I really do believe that the philosophy my wife and I have around how we live our lives is not going to be affected one way or the other by the outcome of that decision but it’s, because it’s still what’s important to us we will still be doing, and we’ll still be doing in the same timeframe because we recognise from the experiences of my father in law that it’s not just MND that can blight older life, and we can’t control all of those variables. And if we get tested, or I get tested and it’s a yes, I can’t control what happens after that either, so focus on living life and making the most of it really.

Paul sees presymptomatic genetic testing as a decision that is “continually under review”.

So we tend to think of decisions as a point in time; this is a continuous decision. It only ceases to be a decision when I have the testing and I get a result. So even if I have a test there’s still the choice to make about whether I actually get the result or not about whether I’ve got the gene. But that is a decision for me that’s continually under review, and until such time as I’ve got a result of any test, that’s how it’ll stay. I will get a test when it serves a useful purpose to, for my children i.e. grandchildren and their consideration, or to support medical developments and scientific developments. If, I will get tested if I can support decision making of other people, or progress in either of those fronts.

Equally if they turned round to - they, that sounds really impersonal - if the specialists who are conducting the research say, “We have a test for MND, and if you take it and you’re positive we can do this and it prevents you getting MND”, I’m up for testing then. But until we’ve got some control on what we do when we’ve got the information I’m loathed to, to do it.

Paul recognises that caregiving can put a lot of pressure on partners. He feels that his wife has a part to play in decision-making around pre-symptomatic genetic testing.

But the primary discussion is with my wife, to a lesser extent with my children, but it’s my wife that I look at and I think about her and the pressure on her if I were to succumb to MND, because the demands on the care that will be placed on her are huge, and I recognise that from my father. So she has a part to play in that decision making, but her view at the moment is, is pretty consistent with mine. She looks at her own genetic predisposition to heart disease and strokes and says that it’s a race who goes first. So, we have a pretty fatalistic view of that really.

Talking about inherited MND comes in “peaks and troughs”. Generally, Paul’s family have other things to focus on.

When we’re talking now we’re really fundamentally talking about what’s happening with the children and what’s happening with my dad, respective partners, rather than actually what MND means for us. You may think it should be a bigger part of our lives, but actually it’s not. There’s lots and lots and lots going on and which we enjoy, particularly you don’t want to be thinking about that, you want to be enjoying your family growing up and supporting them when things aren’t going so well, and enjoying their successes, and that is definitely what we’re more focused on than almost a clinical dissection of what having an MND gene might or might not mean for us.

Paul didn’t have to sit his children down to talk to them about inherited MND, because they “lived it” over his mum’s illness.

So my children are older, so they’re in their mid and late 20s now, and because of their age, one is a social worker, one was studying to be a speech and language therapist at the time, they’re capable of having conversations at a professional level, and we probably all sort of revert to that. The level of feeling in it isn’t as strong. This is what I keep coming back to, potential grandchildren, should they choose to have them, might be a real game change in terms of the nature of that discussion.

And also they lived it, so we talked to them about how mum was deteriorating and likely to deteriorate, and they were with us in the last two weeks at the hospice. My dad wouldn’t leave my mum unless one of us was there, so I effectively set up a rota, or I did a lot of nights, so someone was always with my mum. And my daughter, eldest, was a part of that, so she lived it, saw it, heard it, so discussion wise it’s , it, we naturally involved them so we didn’t have a great deal, we didn’t have to sit them down and say, “This has happened”; they were living it with us because mum needed to see them. We couldn’t protect them and therefore give mum the access that she really wanted and the experience she wanted and then protect the children on the other side, be they the really young ones or the really old ones. So, they’ve seen it, and they know the risk exists, but for them it feels a very long way.