Living with an increased genetic risk: Preparing for the future

For some people, knowing they have an increased chance of developing MND may prompt them to think about putting things in place to prepare for their future and ‘get their house in order’. Not everyone wanted to think ahead in this way, and preferred to deal with things as they arose, but others found ‘making a plan’ reassuring. This section covers:

  • Lifestyle changes and staying healthy
  • Insurance and financial planning
  • Housing and adaptations
  • Putting things in place for existing children
  • Care and end of life planning

Lifestyle changes and staying healthy

Some people we spoke to talked about trying to look after their health and making lifestyle changes, which they hoped might delay the potential onset of symptoms. This sometimes meant changing their diet (including avoiding certain things, like monosodium glutamate (MSG) or alcohol), and for others, doing exercise, taking vitamins and supplements and avoiding stress.

Anthony hopes that taking vitamins, eating a varied diet and drinking less will delay the onset of MND. Looking after his health is also about creating a “positive mindset”.

I think the way you eat is really important, and I think people, it’s changing now, but I think a lot of diseases are caused by what you eat. Because you are in your environment, and what you eat is what you actually put into your body. I think we do tend to eat a varied diet, more fruit, you know? Still enjoy your food but not have steaks every day, or whatever. Do you know what I mean? So we do, we definitely, yeah.
 
What’s your hopes for doing that? Is it staying healthy?
 
Yeah, healthy and delay any onset of MND, basically. People don’t know – I think there’s going to be big advances in what people eat linked to various diseases, and I suppose, a lot of it is like… you create a positive mindset. Yes, I am now taking my vitamins, I’m now eating healthily, I’m now drinking less, therefore I’m going to be healthy and… live longer. And that’s got to be a positive mindset anyway.

 

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Harriet has also prioritised diet and fitness since finding out she carries the C9orf72 gene variant. She said, “you feel more capable to deal with things when you’re fit and well”. Adam has focused on his health since finding out about inherited MND in his family. He said, “I definitely have cleaned up my diet, I definitely don’t drink as much, I definitely take care of my body a lot more… I just I try to optimise it even more because you feel like you need to get that edge on everything”.

Whilst people often appreciated that there wasn’t clear evidence on whether certain lifestyle changes could reduce their chance of developing symptoms, some took the attitude of “it can’t hurt, can it?”. Lizbeth said, “I do look after myself a lot better. I take a bunch of vitamins every day and have done for ten years. Do I think that they’ll stop MND? Probably not, but in my mind it helps”.

Louisa asked her mum’s neurologist about lifestyle factors that could impact disease onset, “I did ask him ‘So what can I do…? Like if I go and drink two bottles of prosecco this weekend, is it going to… make me worse off?’ And he said, ‘No… just live your life how you’re going to live your life… if that includes two bottles of prosecco at the weekend then it does’”.

Sometimes people found it difficult to know whether to act on advice they had heard about, especially where it was quite “extreme” or went against things they considered essential for their physical and mental health. This included some reported links between high levels of physical fitness or exercise and MND, even though these remain far from proven. Georgia said, “that [exercise] is my stress-reliever, that is my outlet, that’s what I enjoy, and that is more important to me at the time than this like unknown maybe risk”. On the other hand, Lizbeth explained to friends that she was not keen to take part in a mountain running challenge now she knew she had an increased chance of developing MND.

Louisa has looked into lifestyle factors that could affect the onset of MND, but until there is “high quality evidence” she doesn’t feel it is justified to make any extreme changes.

The neurologist at the time said there was a 50% chance that I would carry the gene. And he said that if I carried the gene, he did say that it wouldn’t be absolutely definite that I would get it if I had the gene, he said that it is pretty likely that I would get it if I carried the gene, do you know what I mean?
 
Then I did ask him, “So what can I do, can I do anything, can I change my lifestyle? If I go and drink two bottles of prosecco this weekend, is it going to mean that that’s going to make me worse off [laughs]?” And he said, “No”, he said, “Just live your life how you’re going to live your life”, he said, “If that includes two bottles of prosecco at the weekend then it does”.
 
Recently though I suppose – you jogged my memory actually – I have looked more about lifestyle factors, and I know the research is, you just don’t know, do you, there’s hypotheses of like “This might make your chances of it getting worse”, or “This might, or this might not”, but nothing’s saying, “Don’t do this”. So more recently I’ve looked at keto diets, if I changed my diet would that help? Then I read – so I’ve ran marathons – then I’ve read, “Increased physical activity can maybe bring on motor neurone disease or complicate.” And I thought, “Oh, God, this is just… I can’t do that to myself.” So, I stopped, I stopped reading any more than that because I thought I can’t not go for a run because that’s what I need to do for mental health and it’s good for my daughter to see that we’re fit, and we eat healthy. And I eat reasonably healthy anyway, I do have the odd glass of prosecco here and there and did probably drink too much on my birthday, but I’m not that unhealthy.
 
But it has recently crossed my mind that maybe the fact that I’m not unhealthy might not be to my benefit. But without hard evidence, I can’t take that as gospel, can you, so. I try not to worry about, I’m trying not to worry about it because I know that it’s not nailed on hard fact or proved with high quality evidence, so how can I justify a drastic change to my lifestyle with possibly no sort of benefit?
 
Yeah, yeah, I know what you mean.
 
Don’t get me wrong, if I was eating cakes every day, that information would’ve spurred me on to eat more vegetables, but to live in ketoacidosis, that’s extreme, isn’t it? I don’t want to have to go to extreme behaviours if going to have no benefit. Having said that, I did work with someone who when they released all the diabetes, if they went on a low-calorie diet, you could reverse type two diabetes. And I thought, “Well that’s different, I would do that”. If it was something like that then I would give it a go. Maybe something will come up in the next ten or 15 years and I’ll be able to kick the arse out of it [laughs].

 

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Liz Z said, “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’”.

Insurance and financial planning

Putting in place life insurance and other financial planning, like health insurance or writing a will, was a common topic in our interviews. Although some individuals do this as a matter of course, others decided to do it after finding out about inherited MND in their family or after their own pre-symptomatic genetic test result. One person organised life insurance for her children before her partner was given an official diagnosis of MND.

However, doing these things was not always easy, both from an emotional and practical point of view, particularly for younger people who never thought they’d need to consider financial planning so soon. Calum said having to think about it made him “feel like a 20 year old that’s been robbed of my years”, and that he felt too young to make a bucket list.

Calum feels it is important to put things in place, like life insurance and critical care cover, but isn’t sure when to do this. He says, “Something’s holding me back.”

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.

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Although she sometimes finds herself “panicking” about not having life insurance or having written a will, Mary isn’t sure how best to go about these things.

I keep panicking that I’ve not got anything in place.

Like…

Like, nothing. Like, insurance for the kids, just… a will. Maybe I’m putting it off and I know I shouldn’t put it off, but and I think now, because they’re getting a bit older now, I’m not so much… when they were younger, I used to keep thinking, “I better get something in place because if something happens, who has custody, where do they go?” Whereas now they’re a bit older, so I’m thinking, “It’s okay, my oldest will look after my youngest.” I know that sounds a bit bizarre, but I know I should get stuff put in place but I don’t know where to go for the insurance purposes, I’m not sure what to do about things like that, so… yeah.

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Karen planned to organise a Power of Attorney but hadn’t started the process. Although “I try not to think about any of this”, she feels that she would put such things in place if she noticed symptoms; she wouldn’t wait for a diagnosis.

There was a lot of uncertainty about whether having inherited MND in the family or having a pre-symptomatic genetic test could affect insurance policies. This put some people off taking out or updating existing policies; they felt they needed more information, including on what they had to disclose, the implications of this, and the benefits of having such policies. However, others had been told through genetic counselling that they were not required to share the results of a pre-symptomatic test for inherited MND with insurance companies, though it is important to be honest about family medical history. Information on insurance and genetic conditions can be found on the Genetic Alliance UK website.

For some people, knowing they had an increased chance of developing inherited MND impacted their career choices and plans for retirement (See ‘Attitudes to life‘).

Housing and adaptations

Sometimes ‘getting your house in order’ literally meant thinking about future housing needs and home adaptations.

When doing up the house, Angi put in an accessible bathroom and step-free access. Even if she doesn’t develop MND, she sees this as a sensible decision as she and her husband get older.

We bought the house in 2017, and we got it all done up and I made sure I got the bathroom done with a wider door for wheelchair access, and I’ve got, took the bath out completely and got the biggest shower, walk in shower you can get, because my son’s a plumber so it’s ideal, and we got that. So that’s set in if I need to, because my husband’s 12 years older than me anyway, so if anyone needs a stairlift we can always get in too, and we’ve got the purpose built bathroom for that, so I’ve planned ahead for that. Even if I don’t get it, as you get older you might need it anyway.

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Lillian has also considered the practicalities of housing. She said, “it’s only human nature to think, ‘What would I need to do? How would I get into that conservatory over that step? How would I get upstairs?’”. She has decided to stay in her current house because it is well located for services and suitable for adapting if she does develop symptoms. Jade has moved house to be closer to her mother and mother-law, so her husband and children would have their support if she became ill.

Although she didn’t discuss this with others, Maggie couldn’t stop thinking about practical things like housing and adaptations after finding out about inherited MND in the family. She said, “When we were getting rid of my eldest brother’s bits and pieces, we kept saying, ‘Well look, don’t get rid of his wheelchair, don’t get rid of his rollators, somebody’s going to need them’. And in my head, it was me, I was going to need them… I used to be looking around the house thinking, ‘Well no way are we going to be able to get hoists into this house, or ramps… we’d have to move’”. Since finding out she doesn’t carry the C9orf72 gene variant, “all those thoughts have gone, I don’t have to worry about that anymore”.

Having seen his father struggle with unsuitable accommodation over his illness, Calum sees it as an advantage to know that he carries the C9orf72 gene variant, “by knowing now I can plan for my future to be disabled friendly”.

Putting things in place for existing children

Some people mentioned putting things in place for their children and grandchildren in case they were to become ill. Louisa, who doesn’t know if she carries the C9orf72 genetic variant, has started to record memories for her daughter, such as writing in a journal and taking more photos and videos of them together. Although she sometimes found this upsetting, she wanted her daughter to have these things to look back on.

As she has not yet talked to her children about inherited MND in the family, Helen has prepared information for a family member to pass on in case of an accident.

Helen has prepared a pack of information about inherited MND for her sister to give to the children if something were to happen to her and her husband.

(Text edited by Helen)

I’ve talked to my brother and sister about it, so they know about it, because I’ve talked to them about the kids. And I’ve got a sort of pack of information that I’ve put together with like a family history. Just stuff that I’d saved, like the letter that we got with the details of the gene, stuff like that. And I’ve got that in an envelope that my sister knows about. If anything happened to me or Rich, you know, car crash or something horrific like that, then my sister knows about this envelope for her to pass onto the kids when the time is right.

And she knows about that, so it’s, you know, things like that I have sort of thought of probably in a way that… You know, I’m the one who’s been like documenting the family history. Even though it’s not my family, it’s like my husband’s family, I don’t think it would cross his mind to get all that down on paper to pass on to the kids. Whereas that’s more my concern is making sure they’ve got all this information so if we weren’t around anymore, they’ve got all that information, you know, if there was no family around that they could ask. Because obviously they don’t have any cousins on my husband’s side of the family and stuff like that.

So it’s almost like I’ve put the responsibility of that onto my family, rather than my husband’s family, to tell our kids, you know, because they don’t want to talk about it and maybe that’s easier because it’s sometimes a bit too raw, isn’t it, when it’s your own family. Whereas my sister could happily, well easily, more easily tell my kids about the whole family background and history and what happened, because she’s that one step removed from it and doesn’t have the sort of added pressure of it being like a genetic thing in her family.

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Helen has also thought about what would happen if her husband were to become ill for another reason. In that scenario, she would want to find out if he carried the C9orf72 gene variant to have that information for their children. They have planned to look into how to put this in place.

Care and end of life planning

Thinking about the kind of care they would want if they did develop MND was another common topic, both for people who carried a genetic variant associated with inherited MND, and those who didn’t know if they did or not. A few people questioned whether care had improved since a family member had been affected, though others were reassured to know about advances made in care and support in MND over the years.

Having taken on care roles themselves or seen relatives affected by MND, people sometimes felt worried about the impact on partners and children if they were to become ill. A few people felt strongly that they wouldn’t want their children to care for them, and others planned to manage their own care for as long as possible or have professional carers.

Jade and William felt worried about their children seeing them if they became unwell, though William said, “I don’t know if there’s much you can do about that”. Jade discussed the possibility of developing frontotemporal dementia (FTD) with her husband, “I said to my husband, ‘Just stick me in a nice little home and only visit me if I’m pleased to see you. If I’m horrible, then don’t even bother… Don’t put the kids through it’”.

Thinking about the possibility of taking on a care role could be difficult for family members too. Helen said, “I have this fear that it would be just awful… I would get really frustrated… I don’t think I would be the best nurse…But I would never not do it”. She pointed out that even if her husband did not develop MND, “we’re going to be carers for each other at some point in time… so we’ll just have to deal with it as and when it happens”. Another individual found it helpful to “play out the hypotheticals” and plan how she would support her family member if they did become ill.

Liz Z doesn’t know if she has inherited a genetic variant associated with inherited MND, but her approach to the future is “plan for the worst, hope for the best”. She has thought about her wishes for end of life care, which she has recorded in a legal document called an Advance Decision. This is also known as an Advance Decision to Refuse Treatment and allows people to record any treatments they don’t want to have in the future, in case they can no longer make or communicate such decisions for themselves. In Scotland, this is often called an Advance Directive. This is different from an Advance Statement, which is not legally binding. An Advance Statement enables people to write down their wishes, feelings, beliefs and values in case they need care or medical treatment in the future. These documents are also separate from an Advance Care Plan, which is normally made together with a person’s healthcare team when they are nearing the end of life. People might also consider putting in place a ReSPECT plan and Lasting Power of Attorney. More information on these options is available on the Compassion in Dying and NHS websites.

Liz Z emphasises quality of life at the end of life. Although she has put in place an Advance Decision to Refuse Treatment, this document is “not set in stone”.

I’ve got an advance decision to refuse treatment, which are very easy to fill, are available on various websites, and you can be very specific about what your wishes are. You can’t opt for treatment; it’s opting out of treatment, so you can be very specific. For example, say if I get this and I get this, and I’ve put very specifically that if I develop motor neurone disease, I do not wish to have antibiotics to treat any chest infections or pneumonia because I don’t want to prolong the illness by any means. I don’t want to go to hospital or anything like that. And that’s a legal document. And I’ve also decided, I also would not want to be resuscitated.

So that’s in my medical records, my family are aware of that, anyway. But it’s, the advanced decision doesn’t only cover the motor neurone disease, it covers other things as well. So, it’s just for me, personally, I’ve seen lots of people at end of life, who haven’t made plans or haven’t put wishes down, who are kept alive, whose quality of life is not good. And quality of life is the most important thing, and I think that if we had more choices at end of life, it would be more relevant to enabling people to decide on their own quality of life and what is important to them. And there are people, there are lots of organisations that can help people do the advanced care plans. 

Out of the area that I work in, we do our own advanced care plan, which is not a legal document, but it’s more like a statement of wishes, but it encourages people with MND to, or any illness, to record what their wishes are, preferred place of care, preferred place of death, how they would want to be cared for. Even tiny things, what music they want to listen to, what they would want or not want to watch on the television, because you go off into people’s houses for any patient who can’t speak for themselves, and the carers will put on some horrible TV programme and if I was the person sitting in that chair and I was looking at that… so it’s important to record your wishes, basically. You don’t want to be sitting in a chair, watching something that you really wouldn’t want to watch. So little, tiny things can be really important, and as we know with MND, little things are hugely important. 

I know what end of life looks like, I know how it can be and how sometimes it is, and I know that sometimes people’s lives are extended when really they should be allowed to die. And I don’t want to be kept alive, I just want to be allowed to die when my time comes. It’s not a hard decision. Having said that, I have said to my daughter that I don’t want to die before her graduation, and if she gets pregnant, I don’t want to die before her baby’s born. So, what we have to remember is that any of these documents are not set in stone and that they can be changed. 

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Assisted dying is not currently legal in the UK, but several people we talked to wanted to be able to choose their time of death and supported a change in UK law to allow assisted dying. This included Karen and her daughter Georgia Y, who had discussed her wishes.

Karen believes that people should have the right to choose at what point to end their lives. If she develops MND she would consider assisted dying; she would not want to live to the end stages of the disease.

Well I’m a member of Dignity in Dying, the campaigning group to change the law on assisted suicide. At the moment the only option, and a lot of people with motor neurone disease do take this option is to go to Dignitas or some other facility like that. And that would, I mean that would definitely be something that I would, now I would say 100% that I will do. But obviously that’s an easy thing to say when it’s not a real possibility, I think that’s what I would choose to do.

But in the meantime I am part of the, as I say, I’m involved with Dignity in Dying, because I do believe having watched you know, people suffer, with a terminal illness, I totally believe that people should have the choice about how to end their lives and at what point they want to end their lives. And the campaign that I’m a member of is looking for a change in the law which is, it’s targeted at terminal illness within six months of end of life, so it’s not you know, euthanasia or kind of bumping off your granny or for money or whatever, which is what the opposition kind of think that the risks are. This is about having real proper safeguards in place.

So at the moment that’s quite a positive thing that I’m doing. But yeah, for me I would definitely not want to live right to the end of motor neurone disease. But the problem is that in order to travel to Switzerland and administer the medication yourself, you probably have to go before you would ideally want to, and certainly people that I know who’ve taken that path have had to go there earlier than they would’ve you know, and that deprives you of time with your family and time when you could be living a reasonable quality of life.

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Like Karen, other people felt that they would not want to live to the stage their relative had with MND. Mary said, “me and my sister have talked about we don’t want to go through what my dad did… we don’t know what our options are there”.