Karen

Age at interview: 59

Brief Outline:

Karen is 59 and has one adult child. She is retired, but previously worked as head of service in children’s social care. Ethnicity: white British.

Karen became aware of inherited MND in her family after her mother and uncle were diagnosed. Karen has decided not to have pre-symptomatic genetic testing, though has made positive changes to her life to make the most of each day.

More about me...

Karen’s mother was diagnosed with MND in 2014, and shortly afterwards Karen’s uncle was also diagnosed. Although they didn’t know of anyone else in the family who had been affected, Karen realised straight away that it was likely to be hereditary. She explained this to her family, who found it hard to accept. However, this was confirmed through genetic testing, and Karen’s mother and uncle were told they had the C9orf72 gene variant. Karen feels this is positive for her family as there is a lot of research around this genetic variant.

Karen was able to provide emotional and practical support to her mother and uncle, although this negatively impacted her mental health. She found it difficult to see them suffering, but also found it hard to think about the potential implications for herself and her daughter, Georgia Y. Karen has been to see a neurologist to discuss her situation and has found this a helpful experience. She has also had counselling privately. 
 
Since her mother and uncle have died, Karen feels she is able to put the threat of MND to the back of her mind, although it is still something she thinks about most days. She worries when she has pain or cramp that it could be MND. However, Karen also feels her experience has had a positive impact on her decision making, prompting her to take early retirement. It has encouraged her to live life to the full, and to do the things she wants to do such as travelling.

Karen has decided not to have pre-symptomatic genetic testing. Although she sought advice from friends and healthcare professionals, Karen emphasises genetic testing as an individual choice. Whilst she feels that being told she doesn’t have the gene variant would be life changing, she describes testing as “Russian roulette”, and prefers to live with the hope of not knowing. She thinks that her decision could change if having the test meant she could take part in clinical trials to access preventative treatments. 

Karen and her daughter talk openly about MND, but it is not something they regularly discuss. However, her daughter is aware of her wishes for the future. Karen is a member Dignity in Dying and supports a change in the law allowing some people with terminal illnesses the right to choose how to end their lives. Karen would consider seeking assisted dying if she were to develop MND but is aware her feelings could change in the future.

Karen is keen to take part in research and help to find a treatment or cure for MND, as well as frontotemporal dementia. As part of her involvement in research studies, she has had MRI scans and psychometric tests. Karen has also attended information days for families affected by inherited MND. She found these “informative” and enjoyed meeting other families. Karen is a member of Facebook groups around MND. Although these were helpful when her mother and uncle were alive, it can also be scary to hear about other people’s experiences. Karen still uses these groups at times; she likes to keep up with research developments and opportunities and offer support to others.

Karen’s uncle was diagnosed with MND shortly after her mum. She realised straight away that there could be a genetic link, and had to explain this to her family.

So on the 3rd of February, 2014, she went to see a neurologist and was given the results of various tests that she’d had and was told that she had motor neurone disease. I got a phone call from my dad, I’ll never forget that day, I was in the car just going to the hairdressers funnily enough and he said the words “motor neurone disease” and he didn’t understand what that was, and I did and it was just awful.

At that stage we didn’t know that it was hereditary, but we just knew that my mum had it.  And then a month later, my mum phoned me up and said quite naively, “Oh, you’ll never guess what Karen, my brother has got the same thing that I’ve got, he’s got motor neurone disease as well, can you believe that?” And she didn’t realise the implications of what she was saying because obviously the implication was that there was a genetic link. And I had to explain then to her what that actually meant, and she was, “Don’t be ridiculous you know, that’s crazy, that’s stupid you know, you won’t get it and you know, it doesn’t mean that at all”, and she was in denial about it.

But, so once I knew that my uncle had also been diagnosed then I knew that it was genetic, or there was a strong possibility that it was genetic, I mean that was just you know, a ridiculous coincidence otherwise.

And, so, during the course of their illness, they both died within a week of each other in 2016. My mum died on 7 July and my uncle died on 13th, and during the course of their treatment, which was just, riluzole, which is the only drug that’s approved to try and slow things down, and various neuro, neurological appointments and tests and all that sort of thing, they both discovered that they did have in fact the same gene and it was the C9orf72. And so that’s how we knew that there was the genetic, for definite that there was, the inherited form of genetic MND in our family.

Karen takes the approach of doing the things she wants to do now, rather than putting them off or saving money “for a rainy day”.

It’s certainly affected my attitude to money. So I’m lucky enough to be retired on a pension and I have you know, money available to do things like travelling, so it’s definitely affected me in a positive way in that respect, I want to do travelling and planning trips and do those sorts of things while I’m, while I’m well.

In other aspects of my life has it affected me? I think I’m much more, not much more, but I’m a bit more of a risk taker now. I just think, “Oh, well you know, I’m going to”, if I want to do something, I’ll do it. I don’t like, I don’t think, “Oh, I’ll do that in five years” or “I’ll save that bit of money for a rainy day” or anything like that, I’ll just kind of get on and do things that I want to do. So I make, it does come into my decision making I suppose because, yeah.

I’ve thought a lot about, this might be a later question, but I’ve thought a lot about what I would do if I got it, and there’s been a lot of, I’ve had a lot of discussion with friends about that. But at the moment, it doesn’t affect me too much I would say other than in you know, in a positive decision-making way.

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.

Although she describes herself as “a bit of a pessimist”, not knowing whether she has inherited the C9orf72 gene variant allows Karen to hold on to hope.

Well, the main thing is, “Can you do anything about it?” What does knowing, what’s the positive about knowing? I suppose the positive about knowing is for people who wouldn’t do things and that this knowing would make them do things. So, for example, if I’d never thought of travelling long haul or something and then I thought, “Well if I knew I had the gene I might think differently about that.”
 
For some people it’s been life changing in a good way in terms of being able to do things that they wouldn’t have done or spend money that they wouldn’t have spent. They’d been keeping it for their old age or whatever.
 
But for me, I suppose I behave as though I have got the gene, but I can also pretend that I haven’t, so - and not necessarily pretend, because I might not. I mean I’d like, obviously it would be the most amazing thing to go for the test and be told that you didn’t have the gene. That would be the one reason for going to get tested, to be given that knowledge that you haven’t got it, it would be free, you know, it would give you so much, well it would just be life changing, life changing to be told that you didn’t have it. But it’s Russian roulette because equally you could be told that you have got it. So whilst I don’t know, I can always hold on to the hope that I haven’t got it.

So do you think hope is a factor in you not taking that step because you might be told you haven’t got it?
 
Yeah, it must be, although I tend to be a bit of a pessimist so I’m convinced I’ve got it anyway. But I’m not 100% convinced, I can be 70% or 80% convinced, and that 20%/30% is the difference I think between me being very depressed and preoccupied than not being. So not knowing for sure allows me to have hope, yeah.

 

Karen and her daughter talk about inherited MND frankly and openly; “We don’t sit around crying our eyes out… we’ve got a plan”.

We don’t have very much conversation other than things like we might say flippantly, I might say to her flippantly, “Oh, right, I’m going to do that before I get motor neurone disease”, so things like we talk about travelling or she’ll ask me, “Well why do you want to do that?” or “Why are you, why have you got this?” or whatever. And I’ve told her that I’ve got money set aside for what I might do if I discover that I’ve got it. And, so she knows my end of life wishes and all that sort of thing. We’ve talked about that, in a very sort of, much like I’m talking to you now, in a very frank and open way really.
 
We don’t sit around crying our eyes out or kind of thinking, “Oh, worst possible scenario” blah, blah, blah, we’ve got a plan. We have no plan if she gets it, that’s another thing that we don’t speak about at all, but I will sometimes raise it with her if there’s something that I’m thinking about.

 

Karen has talked to her partner about the chance she could have inherited the C9orf72 gene variant, but hasn’t made a big announcement because she isn’t thinking of making a serious commitment.

I sort of wove it into the conversation. I have thought about it, I have thought, “Oh, how would I tell a new partner?” because it’s not something that… well it has implications because if you were going to, if I was going to move in with someone or commit to - I mean I wouldn’t get married again, I’ve been married twice, I don’t want to get married again - but if I was [laughs]. If I was to be in a relationship where we were going to live together and make a commitment, obviously if I then get motor neurone disease that’s a hell of a thing for a partner to have to experience.
 
And I would hate for my partner to be my carer. I would absolutely hate that, awful, although that’s what happens a lot of the time by default really. Obviously if you’re ill and you need care then the closest person to you is on hand to provide some sort of care.
 
I think it’s interesting isn’t it, because some people might think, right, I need to make an announcement right at the outset, “look this is what’s, you know, before you get involved with me you need to know that you might have to experience this”. But I haven’t really done that because I’m not thinking along the lines of wanting to move in with somebody or be committed in that sort of way.

 

Facebook groups on inherited MND are a good place to hear about research, but Karen doesn’t use them as much as she did when her mum and uncle were alive, as it can be “scary”.

I’m also a member of two groups on Facebook, and I’m not really sure about those really in some ways because my , my family members who’ve had motor neurone disease have now died, motor neurone disease for now is out of my life. So when my mum and uncle were alive I found those groups much more helpful. Now it’s almost like I don’t really want to be talking to people who’ve got motor neurone disease. I know that might sound awful, but it’s like you know, I’m, I just think, “Oh, I’d like to pretend that I’m not you know, there’s nothing affecting me.” It’s quite nice to sort of put it to the back of, of your mind as much as you can.

But having said that, I’m still a member of those groups because one of them is a research group and obviously anything new that comes out, I’m very interested to hear about, any studies or any projects, any research that’s going on, anything that I could participate in.

But you know, you do hear very sad stories on there because obviously it’s all people who’ve got family members who’ve got motor neurone disease and then people telling you that you know, their mum’s died or their brother or you know, they you know, things, new members join and they say things like, “Oh, I’m the sixth person in my family to get motor neurone disease”, so it’s really scary, but. Yeah, so, so I don’t really dip into those groups as much as I did when it was affecting me every day.

Having lost family members to MND, Karen finds it “comforting” to take part in research; “you feel that you’re doing something to help”.

It’s quite comforting because you feel that you’re doing something, you’re doing something to help yourself and other people. Having watched people die from this disease you know, you, as I personally feel that anything I can do to help other people who are suffering from it as well as just, as well as also obviously helping myself and my own family, I just feel that doing something is better than just doing nothing really, and that’s what motivates me to do it.

Aids and adaptations can sometimes come “too late”. Karen encourages healthcare professionals to anticipate people’s needs and keep checking on those who say they don’t want support.

I think the healthcare professionals are really, really good at what they do and they’re understanding. I think for people that are trying to support people with MND, I think that it’s really, really difficult to be able to empathise, this is such a horrendous thing that no-one could know what it’s like I don’t think unless you’re actually going through it.

And I think sometimes you know, try not to be too dismissive when people say they don’t want support or they don’t need support, because I think that deep down a lot of people who initially are too proud to ask for support would really benefit from it if, somebody was kind of keeping on their case a little bit, not in an intrusive way, but just you know, it’s all about timing and you know, you might catch somebody who’s having a really bad day and they just don’t want to talk about it or whatever and you know, just not to close the door really to make sure that you know, that you keep actually trying to provide support.

But I know that in the real world you know, there aren’t enough professionals and there are too many who need their help. So it’s very, it’s very easy to cross someone off your list and think, “Oh you know, I’ll now go and help the people that do want it”, because I’ve been there, I’ve done that myself in my own work. But there really isn’t enough emotional support out there at all.

And the healthcare system, well it’s such a struggle to get things you know, things that people need like, voice recognition stuff, that takes ages, even you know, when people lose their speech I think that’s one of the hardest things that you can’t communicate, to lose the ability to communicate is so isolating and I think that that should be available, and I think that it should be talked about at the earliest possible opportunity because I know with my own experience that my family only got things when it was too late.

So you know, you have to wait for something to stop functioning before they address it. So there isn’t, they don’t anticipate what you’re going to need far enough in advance. So you know, and then, and then you know, you have to wait because there’s a waiting list, so don’t wait until somebody’s lost their speech to put them into the system. I think that’s, that’s the problem that you know, sometimes there’s, it’s too little too late.