Lizbeth

Lizbeth is 51 and works as a young person’s counsellor. She is married and has three children, aged 17, 22 and 24. Ethnicity: White Welsh.

Lizbeth has lived with MND from a young age, losing her grandmother and mother to the disease. She had pre-symptomatic testing and was told she has the C9orf72 gene variant. Coming to terms with this was harder than she imagined, but it no longer defines her.

Lizbeth first experienced MND when she was 9 or 10, when her grandmother developed symptoms. She has some difficult memories of this time, and her grandmother’s death was a profound loss in her life. In the years that followed, Lizbeth learnt that her grandmother was the third of her siblings to have MND. Although there was no genetic information available, the family had a sense that it was hereditary, and thought it could affect other members of the family before the age of 50, as this was the pattern it had followed. Because of this, Lizbeth’s mother marked this occasion with a big party, but in her late 50s developed symptoms. Although the family had some good times after her diagnosis, Lizbeth’s mum had a clear view of how she wanted to live, and chose to end her own life in 2010. Her donation of her brain and spinal cord to research played a small part in the discovery of the C9orf72 gene, which was identified as the genetic variant in the family. Looking back at the family history, Lizbeth has found several relatives who may have been affected by frontotemporal dementia, caused by the C9orf72 gene.

Lizbeth was asked to undergo genetic testing for research but questioned whether this would benefit her. Further, she felt she wouldn’t be able to live with not knowing the result, a condition of the study. However, when pre-symptomatic genetic testing became available for C9orf72, she decided that she needed to find certainty, and a sense of control. Lizbeth also felt that knowing her genetic status would give her daughters solid information in making choices about their futures. Following genetic counselling, she had the blood test. She found waiting to receive the result to be a challenging time.

Lizbeth received a positive result and found that knowing this was much harder than she had anticipated. It took her three or four years to come to terms with this, a period which had a severe impact on her and her family. Lizbeth describes receiving her result as a loss of the future she had imagined. There were times she turned to alcohol and tried to end her own life. However, the family benefitted from counselling, and Lizbeth decided to re-train as a counsellor, which was a turning point for her. Although she felt abandone by the lack of support or follow-up after the test, Lizbeth does not regret her decision.

Lizbeth grew up being told not to have children but decided that she had to live her life for her. She has been open with her children, sharing information around MND in an age-appropriate way. She has tried to make this part of everyday conversation, answering questions around their grandmother’s illness, and more recently sharing information on genetic testing and options for starting a family. Although she does not want her children to pursue testing at this stage of life, Lizbeth recognises this as their choice.

Lizbeth is always aware of MND, and there are times when she questions whether she is developing symptoms. However, generally she has gotten to a place where it doesn’t define m. She finds keeping busy helps and tries to avoid searching for information on the internet, which in the past sent her down a rabbit hol. Lizbeth appreciates the support of her neurologist, who she sees annually for monitoring. She feels that she values life more consciously than she did before and has learnt to live in the present. Lizbeth encourages others with a family history of MND to find people who they can talk to about how they are feeling.

Lizbeth was asked to have a genetic test as part of a research study, but she couldn’t live with not knowing the results. She waited until pre-symptomatic genetic testing for C9orf72 became available on the NHS.

Age at interview 51

Gender Female

It wasn’t they offered me a test, they asked me to do a research test, and there was nothing in it for me, and that sounds very cold, but they told me they take, they do this test and then I would not know the results, and I could not live with that. And I think, I know lots of people who can but I came home and talked to my husband about it and I said, “I will be forever wondering what the test was”, so I couldn’t do that.

I went to lots of meetings and they were quite intimidating where I, where I was sat in a room with five or six people and they asked me similar questions you’re asking me about my mum and everything. I remember walking out of one study you know, “If you were a bit more up front with your agenda maybe I’d have sat and listened some more, but you just need me to test, do the test for you. When you can do a test that’ll benefit you and benefit me then I’ll come and have a test”. And it took me a while then to go and speak to this one particular man in [city] who was, who was great, he was far more … it was a much better experience because it wasn’t all one-sided.

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Lizbeth has shared information on reproductive options with her children. Her daughter was interested to learn about the possibility of having pre-implantation genetic testing without finding out her genetic status.

Age at interview 51

Gender Female

The last meeting we went to in [city], the first one actually it was all about the impact of, the impact of knowledge on younger people, and something I brought back from that meeting – we’d talk about, well I would go, come back and we’d talk about it – and I remember saying to her, “Did you know”, I said, “That you can, you can have babies carefully without knowing your status?” and that interests her. She has no, she has no desire to know, but she has every desire to have a healthy child.

So I brought that information back with me then, “Something I’ve just discovered, I’ve discovered that, that there’s a possibility that you could have…”, and I, I honestly don’t know the way, the way to describe it, it’s genetic selection I suppose, but you’ve got to be careful how you say that because it’s not [sound cuts out]. “You can, you can have that but you don’t have to go through the process of finding out your status first”. So, we’d have that kind of conversation and that, that makes her think “Okay then, that suits me”, you know. So yeah, we do have, I think we have informative types of conversations with them about it.

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Lizbeth sees using genetic testing before or during pregnancy as “valid” and “useful”. She points out that testing during pregnancy has been carried out for a long time.

Age at interview 51

Gender Female

These, these things have been happening for a long time anyway where you get, if you’re an older mum they test you if you’re carrying a Down’s syndrome child so that you can make a decision whether you want to bring that child to full term. So there’s been this sort of thing going on for a, a long time, but with this, with more modern technology, I think if there’s a – and I suppose this is easy for me to say because it benefits my family – but if there’s a valid reason to do it, that’s not to pass on a wicked awful gene to your family, then it’s, it’s useful, but not just to pick and choose what kind of kid you have.

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Lizbeth describes reading her pre-symptomatic genetic test results as “a little bit anticlimactic”. She didn’t absorb it very well, and it felt surreal for a long time afterwards.

Age at interview 51

Gender Female

We went to his office in the, in the genetics building, he had the letter, he hadn’t opened it. He said, “I can’t open this”, he said, “This is yours”, he said, “But you know, I wanted it to be here, is it okay?” So we had a conversation. He was very reticent to give it to me for a little while, he said, and it was, it was clearly that question, “Up until now, until you open that letter you’re living, you’re living with as much hope as you are living with dread, you are living in a 50/50 world”, he said, “But if the results of that, in that letter are not what, aren’t positive for you, then what we’re effectively doing is taking away an awful lot of hope”.

So I remember saying to him along the lines of, “Well it’s a little bit too late for that now because I’m going to have to open it”. I remember opening it and feeling a little bit anticlimactic, very, “Oh, there we are then”. I don’t think I absorbed the information very well that day, and I don’t think my husband did either. You know we were going to go out for lunch, he said, “Do still want to go out for lunch?”, “Well we’ve got to eat”, and I think it was a very surreal day. I think it is, I think it’s, I think it felt like that for quite a long time.

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After being told she carried the C9orf72 gene variant, Lizbeth had counselling through the NHS. Her counsellor suggested that she might benefit from family counselling, which “really helped”.

Age at interview 51

Gender Female

It was very effective because… family counselling team and screen sort of thing is what they do. For the first three, two thirds of the counselling session you and your family sit in a room with a window and there’s a team behind that window watching you with your counsellor. Then for the last third of the meeting you go and sit behind the screen, the team of counsellors sit and they talk about what they’ve listened to and what they’ve heard and then you see your story being talked about from a different perspective, from a different set of eyes.

And it’s probably really, really powerful, well I know it is because then I would be, we’d be driving home and I would think to myself, “Is that the way, is that the way other people see me?” So it can’t be all that bad. “And is that the way, is that really what my husband thinks?” because they, you know, they listened and heard everything, and it would start conversations at home that were a little bit more sensible than the conversations that we were having, so that really helped.

And then at the end of that they, well one of the guys who was one of the tutors on the course said that he thought it would be a very good idea for me to come on their course because not only would I learn, I’d learn- I didn’t know what I was going to do with my life anymore, I need some direction. He said, “It’ll be good for you professionally perhaps, but I think it’d be very good for you”, and I learnt an awful lot about myself in that three years, as I was learning how to do what I do. And that was a big part of getting me back on, getting me back to a place where I can live my life.

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Over the years there have been times where inherited MND has been a louder or more muted presence in Lizbeth’s family. At the moment, it’s “happily lying dormant”.

Age at interview 51

Gender Female

I can’t remember not knowing about MND in my life if that makes sense. If I was, if I sit down and really think, I can remember being a really carefree young girl, but motor neurone, MND has been a part of my life since I’m about nine because I think I was 11 when she [grandmother] died… I think the advent of the internet was a big thing, but I think for a good chunk of my life I didn’t think about it. It’s only really, it only really came back to the forefront of everything when… we, when we saw the physiotherapist that day. Even though at the back of my mind all the time… So… 20 years ago it became a louder conversation in our family again, because she [mother] was 50 and she wasn’t getting it and then oh my god, my cousin had it, and then, she went mad looking for things to do to stop it happening to her, and she did some really crazy research and all this sort of thing happened.

Then that all died down again. You know, she got to 52, 53. Again, it became a muted conversation in our family, it wasn’t so heightened. And then things happened, you know. My daughter, my youngest daughter was born, my husband and I got married in 2008. Again, it was just, best way to describe it is muted, it’s never not there but it was not there, there. Then of course she had this operation and then it wasn’t getting better. I mean, she’d [mother] be saying to me, “I don’t need to see anybody, I know what’s going on for me”, and I’d be cross with her, I’d say, “Well, that’s not good enough”.

In hindsight maybe if I’d have left her to it, I don’t know… but it became then, so ten years ago, 11 years ago, all of a sudden it came back again. So I suppose that’s what happened with motor neurone, MND in my life. It’s there for a while and it lies dormant for a while and then it’s back again and then it lies dormant a little bit and then it’s on the surface for a little while and then it’s there again, and we’re at a place now where it’s, where it’s happily lying dormant.

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After being told she carries the C9orf72 gene variant, Lizbeth felt “abandoned”. She was angry about the lack of support after the test, which had an enormous impact on her and her family.

Age at interview 51

Gender Female

What they don’t do and I think is important and is something that I really am, I was really angry about for a long time, and I know this happens for lots of genetic testing, it’s, it’s not just MND, they do the due diligence to find, to make sure that you’re stable enough to accept the results of the test and then they send you home. And then there’s no follow up, and that’s really tricky. So if I was wanting to do anything about that past I think that- I had the test on December the 18th, or December 12th, December the 18th in 2012- I think they should’ve been touching base with me for a good six months afterwards because my family had all of that and that was not nice for any of us. The knowing was much worse than I thought it would be.

Genetic counselling is important but support afterwards is far more important because what you do with information like that? It reminded me of my grandmother in 1981 being told, “You have MND, go home and die”. It really resonates with me that way, “You’ve got the test, go home and get on with it”.

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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.

Age at interview 51

Gender Female

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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In the past, Lizbeth spent too much time searching for information online. It’s important to know where to look, because “at 4 o’clock in the morning… it all looks like a possibility”.

Age at interview 51

Gender Female

When there’s something I don’t understand I’ll, I’ll always email it to those guys and they’ll always come back and dumb it down a little bit for me or tell me not to worry or tell me that there’s hope for something here, there’s that or something there, they’re very good at that.

In the beginning when I Googled and Googled and Googled, I found all sorts of stuff. I could’ve gone to China and had stem cells and stuff if I’d have wanted it. I could’ve tried all sorts of bizarre stuff, and yeah, at 4 o’clock in the morning when you can’t go to sleep it all looks like a possibility and I think the internet’s a little bit dangerous for that.

But I think it’s important to know where to look, and it was because of the, my conversations with the neurologist that I talked to that pointed me in the right direction rather than… I totally get it that you know, anybody in my situation wants, can be really hungry for some information sometimes. I was fifty, almost two years ago, around that time in my life I was probably on the internet a little bit too much looking… but Jade [interviewer], what do you look for? You’re not going to get… was I looking for a miracle?  Well probably.

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Growing up, MND was a “dirty word” in Lizbeth’s family. She learnt what it meant through overheard conversations and was later advised against having children.

Age at interview 51

Gender Female

At that time it was, the word we used was hereditary and I think I was probably in my late teens where people would talk about, “Well she was the third one to have it so it’s got to, you know”. It stands to reason, my mum would say, that me or my sister will have it. It was…I don’t know, that’s how I learned about it. I suppose because people would, in the family would talk about it, and then there’s this constant conversation that my mother used to have with me, “If she’s passed it on to me, you might have it and then you’ll pass it on to children, so you have to stop it”.

It was, it was something, a dirty word, “inherited motor neurone” in my family for a long time because I think quite typical of the generation I was, I grew up in, talking wasn’t something that happened. So talking would only happen when everybody was drinking, and as a child you’d pick things up that way.

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