Maggie

Age at interview: 68

Brief Outline:

Maggie is 68 and is a retired paediatric nurse. She is married with two adult children who are 34 and 43. Ethnicity: white British

Maggie found out about MND in her family when her brother was diagnosed, 30 years after their mum developed symptoms. Although she was initially reluctant to pursue genetic testing, she recently found out that she does not carry the C9orf72 gene variant.

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When Maggie’s mother was diagnosed with MND in her late 60s, Maggie became her full-time carer, a time she describes as “an emotional rollercoaster”. Although at the time they were told that it would not affect other members of the family, in 2018 her brother John developed problems with his leg. Initially, they did not consider MND, but a MND diagnosis was confirmed after further tests. Because of the family history, John had genetic testing and was found to carry the C9orf72 gene variant. After his diagnosis, Maggie spent several days a month with him, providing respite to his partner. John died in April 2020, and although adapting to life without her brother is difficult, Maggie values the time they spent together. Since then, another of their brothers has been diagnosed with frontotemporal dementia, caused by the C9orf72 gene, and doctors are investigating whether he could also have MND. 

After John’s diagnosis, the focus was on supporting him. However, Maggie started to consider the implications for herself and her children. Initially, she had a sense that she did not want to know her genetic status, as “there’s nothing I can do about it”. She felt that she would rather live with a “50/50” chance than a positive result. However, Maggie’s views on pre-symptomatic genetic testing changed over the two years since finding out about MND in the family. There were periods where she thought she had symptoms, and started to question whether she could be worrying unnecessarily. She also found out about clinical trials targeting the C9orf72 gene and felt that knowing her genetic status may help her identify symptoms early and possibly join a trial sooner. Maggie knew that her daughter, Kirsty, had also considered genetic testing. She had not pursued this further as she did not want her own result to reveal Maggie’s, which could happen if she were to test positive. 

In 2020, Maggie went to her GP and was referred to genetic counselling to start the testing process. She had a phone conversation with a genetic counsellor, who was satisfied that she had considered her decision and the implications. She sent her a blood form in the post, so that Maggie could have the blood test at her local GP surgery.

When the phone call came with the results, Maggie was told that “it’s good news”. She was taken aback; she hadn’t allowed herself to imagine that she might receive a negative result. She was pleased to be able to tell family, particularly after having worried about needing to share the news of a positive result and its implications for her children. 

Although Maggie feels relief over not having inherited the gene variant, she emphasises that MND has not gone away; there is still a sadness over the loss of John and their other brother’s illness, and practical things to sort out around organising their affairs. However, “the horizons have opened up a bit more”, and Maggie is grateful to think that the family life she enjoys can continue for longer. She doesn’t need to consider issues like moving to a more accessible home, and no longer worries about things like tripping over. Maggie believes that the decision she made over genetic testing was right for her; her siblings have taken different approaches, and she maintains that there is no “right or wrong”.

Maggie and her siblings have all been involved in research around MND, which has involved having various tests including a lumbar puncture and an MRI scan. Maggie hopes that this research will lead to progress in finding a treatment or a cure in the future.

If she were to develop symptoms, Maggie hoped that being diagnosed early would enable her to join a clinical trial. This was one reason why she changed her mind about having pre-symptomatic genetic testing.

Initially when I first started to think about it, I thought “No”. As I said right at the beginning, I don’t want to know, I just thought, “Well, there’s nothing I can do about it, I just don’t need to know”. And I think because in a way I was looking for symptoms, waiting for symptoms to develop, waiting to find that something was wrong, you can kind of frighten yourself into thinking that something’s wrong when it isn’t, and then I thought well, “I would love to know that I haven’t got it” but I couldn’t know that I hadn’t got it without then knowing that I had. Because you could say to somebody, “Okay, fine, test me, let me know if I haven’t got it”, and then you don’t hear from them, you know that you have. So, you can’t… And then you can’t unknow, once you know, you can’t unknow. So, I thought, “No, I’ll leave it”. But then as time went on I was thinking, “Oh if I haven’t got it why am I worrying?” and if I’ve managed to convince myself several times that I have got it, I might be convincing myself unnecessarily.

And then there was this whole thing about trials. John, my brother, nearly went on a trial but then his condition deteriorated too far, and they couldn’t, couldn’t take him on. I thought, “Well, if I knew in advance that I had the defective gene, and a trial came up when I was having early symptoms, I would possibly have a better chance of getting onto a trial.” So, I felt that being forewarned might be a good thing. And so I went to the GP and discussed all these things with her and she said, “You’ve answered all my questions before I asked them” [laughs]. But she said, “Yeah, you seem to have thought it through”, and it’s taken about two years to come to the idea that actually I just think I do want to know.

Maggie has been open in discussing inherited MND and pre-symptomatic genetic testing with friends and colleagues. For her, it is easier not to have to hide anything.

I help out in the local village shop here, we’re all volunteers, so when I was going and visiting with my brother more often and I was saying to them, “I’m not going to be in the shop this week because I’m going to my brother” so, yes, right from the start when I was going down there, I said to them that he’s got motor neurone disease and that my mother had it too and that it… So yes, in a funny way it made it easier I think for me that I wasn’t trying to hide anything. I’m not, I’m not somebody who can hide things very easily. If I start to talk it just keeps, as you’ve probably noticed, it just keeps on coming. So it’s easier if I can just tell people and then if I did develop it then it wouldn’t be a big shock because they’ve already been warned that it could happen.

Mm, yeah, so you felt quite able to talk about that hereditary side of it as well?

Mm, absolutely. And then people say to me, “Well, are you going to be tested? Have you got it? Do you want to know?” and I said, well at the start I said “No I don’t want to know, there’s no point” and then I mentioned to somebody that I thought that maybe I would like to know and we had that discussion. It’s funny how you can almost discuss it with others as easily as I can with family really, but that’s because they’re here all the time, family aren’t.

Knowing when she would receive her pre-symptomatic genetic test results meant Maggie wasn’t on edge every time the phone rang. However, it was something she thought about often.

So then I had a phone call back from the  counsellor again, who said that it would be, she confirmed that the test, the sample was in the lab and that it would take about 45 days for the result to come through, which meant I could sit back then and know that I wasn’t going to get a phone call for at least 45 days, which was nice to know because otherwise every time the phone rings you’re thinking, “Oh, is that it, is that it, is that it?” and I could then put it out of my mind.

Again, having taken that step and the whole thing was in process, I was able to put quite a lot of it behind. It didn’t take up all of my time, but I don’t suppose really looking back that there was more than half an hour at any time that it wasn’t somewhere worming around in my head. In fact, really for the last two years it’s been worming around in my head, and really the biggest thing was how to tell my daughters and the horrible thought that I could’ve passed this beastly thing on to them was the overwhelming thing.

Knowing that three of her siblings carried the C9orf72 genetic variant, Maggie did not allow herself to imagine that she could test negative.

I think probably I wasn’t really allowing myself to hope, because I’d infinitely prefer to have it this way around; that I was expecting bad news and get good news than that if I was expecting good news and actually I didn’t get good news. That’s, I think, harder to process. I mean you can’t control exactly what your head’s thinking, but every time I found myself imagining that I was going to get good news, I sat on it and said, “No, no, come on, be real” you know. Up until then, three out of the six of us had been tested and all three had got it, so I really couldn’t allow myself to imagine that I wasn’t going to be in the same boat, but yeah.

Maggie had thought a lot about how to discuss a positive result with her daughters and granddaughter. She felt relieved that these conversations would not have to happen.

It was enormous and so unexpected that it took me a little while to process it. She said to me afterwards, she said, “It might take you a little while and you’ll, you might have different reactions later”. I’m not sure that I did really, but I was so expecting, I had spent so much time rehearsing in my head how I was going to discuss with my daughters and my granddaughter all the implications, because it wasn’t just an implication for me, there were huge implications for the whole extended family. And I had spent so much time rehearsing in my head how much I was going to, how I was going to be able to tell them, how was I going to be able to answer their questions when I wouldn’t know the answers myself, that I just didn’t know where to go from there, you know. It was just, “Oh, I don’t have to do any of that”, and that was a very, very good feeling, I must say.

Maggie had started to worry about being a “burden” on her family. Knowing she hasn’t inherited the C9orf72 gene variant has made her feel like she can go back to being herself again.

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, but now probably not, at least not for motor neurone disease, whatever else happens to me, but.

So, 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”, it’s a very ancient old house, all bent and buckled, “we’d have to move”, and all those thoughts have gone, I don’t have to worry about that anymore, I can stay here and yeah.

I think in a funny way, I don’t know whether this is, answers the question, but I feel as though I can go back to being a mum and me again instead of being a potential invalid. I didn’t want to be a potential burden, and so now I can just go back to being me again, which is, you know, I didn’t realise I wasn’t me until I was me again. Does that make sense?

Although she had prepared herself for bad news, once Maggie was given her pre-symptomatic genetic test result, she found she didn’t really need time to process it.

I think once I actually, once she actually told me that it was good news and… I kind of really didn’t know how to think, but I suppose really, in behind all my determination to believe that it was going to be bad news, there was this whole thing of good news waiting to come out. So, when it was there and I didn’t have to worry about the bad news, the good news was just there and it was, it was already made, it was just all there. So, I didn’t have to really process it, it was almost as though there were two boxes, one half open and one properly shut, and the half open one disappeared and the shut one just burst open and it was entire. So it was, I didn’t have to really think about it after that, it was just a case of now telling everybody.

So, my eldest daughter, she said to me, she said, “It’s funny, mum”, she said, “I thought it would’ve been really great news and it is great news”, she says, but she said, “It’s just done now, isn’t it? It’s done, there’s nothing to do”. It’s not an anti-climax, because that would be completely ridiculous, but from having so much to think about, so much to worry about and discuss, it was all to do with it being a bad news result, and once there was a good news result we actually had nothing to talk about, it was just done.

Maggie highlights the difference in understanding and support around MND between her mum’s diagnosis in the late 1980s and her brother’s diagnosis in 2018.

I was in the dark, I had an idea of what it was all about but only from a book that had a paragraph about motor neurone disease in it. And other than that, I had absolutely no idea and we were literally crashing from disaster to disaster most of the way through. That’s a bit big, not disaster but we certainly had to make things up, make a plan as things changed. Without any kind of help or input really at all. With my brother it was completely different, there were people almost hanging around waiting to give us help and it’s so, so different.

Maggie’s brother John was very much “in charge” over his illness, but she would go and help him for a few days each month so his partner and carers could have some time off.

It was very different, with my mum she sat back and let us take over. With my brother, no way, he was in charge, at every step, right up until almost the very, very end he was in charge and what he wanted was what-. So right back at the very beginning I said to him, I said, “Okay fine, look, I will give you, I don’t know, three or four days a month and I will come and stay with you and we’ll deal with things as we need to”. So he wanted to rearrange his house, so that he could manage from first of all with a walking stick, then his rollators and then his wheelchair. So he got a wheelchair very early on from the NHS and so he sat in his wheelchair for a whole day and wheeled himself around the house, see what he could reach and what he couldn’t reach, what was possible and what was not possible, and I went around with him, marking out what needed to be done so we rearranged all his kitchen cupboards so that the things that he wanted were to hand. We, I didn’t do the electronics but we arranged for light switches that he could remotely switch on and off and blinds and just silly things that you don’t even think about until you can’t reach them, so he was organising all of these things while he could still walk. He was learning to use a wheelchair while he could still walk so if he got caught in a corner he could get up and get out. So, he was on it right from the start because he knew what was going to happen.

Mm because he’d already seen it before?

He’d already seen it, yeah. So, my job was to facilitate all these changes that he wanted to make.

Maggie kept her children up to date on what was happening over her brother’s diagnosis. Information on inherited MND “trickled in”, rather than being a “sit down conversation”.

The first time we actually knew that John had a problem, or saw it for ourselves, was over that Christmas and we were all here and we could all see that he was limping, or his foot wasn’t, wasn’t right and, “What’s the matter with John’s foot?” so it didn’t take very long after that for the diagnosis. The diagnosis was actually made formally three months later, but his initial diagnosis was probably only two months later. And no, the girls were in on it, right from the start really. So, I didn’t really have to sit down and say, “Oh by the way, this has happened and this and this and this and this”, it sort of trickled in really, the information and he’d had a scan and that was normal, so I said to them then, “It’s not, it’s not a trapped nerve anyway”, “So, well, what is it?” I said, “I don’t know, he’s going to see another specialist”, so then he goes and sees another specialist and then they say, “Well what did the specialist say?” and I’d say, “Well actually, it could be what Neenay had” and, you know, so then we have to wait again, and then “Okay, fine, yes it is that, it’s the same thing”, “Does that mean it’s hereditary?”, “Well yes”, “Does that mean you’ve got it?”, “No, not necessarily” [laughs]. And really it just sort of trickles through, it wasn’t a sit down, “I’ve got something to tell you” conversation.

Maggie’s advice to people who have had genetic testing is to take all the time they need to process the results before sharing them with others.

I think you just have to go with your own gut instinct and do what you feel is right. I don’t think there is a right or a wrong thing on this one. But the, the advice that my brother abroad gave me about taking your time passing on the information was a good one, because nobody would be any the wiser if it took you a couple of days or a couple of weeks to get round to processing the result in your own mind so that you’re clear how you feel about it before you then pass it on. I’m really talking about bad news stuff now; good news is, as I say, very simple to pass on.

But some people would want to do it quietly themselves, other people want to share the grief, so… It is a grief, you know, you once you get that bad news, it would be losing a part of yourself forever, you know. That, that hope would have gone. And you can only do how you feel is right for yourself. But that, that advice that I had to say “Just take your time, you don’t have to do it all at once” made sense to me.