Receiving a negative pre-symptomatic genetic test result

This section is about receiving a negative pre-symptomatic genetic test result for a genetic variant linked to inherited MND. It covers:

  • Being given the news
  • Initial reactions to receiving a negative result
  • Adjusting to knowledge of a negative result
  • Attitudes to life, plans and decisions
  • Reflecting on the decision to have pre-symptomatic genetic testing
  • MND as an ongoing presence

Four of the people we interviewed had found out that they do not carry the particular genetic variant of inherited MND that was identified in their affected relative. Maggie, Kelly and Georgia Z had a pre-symptomatic genetic test themselves, and Kirsty found out she did not carry the C9orf72 gene variant through her mum, Maggie’s, negative result. We talked to these individuals about what it was like to find out that they had not inherited the gene variant linked to inherited MND identified in their family.

Being given the news

Maggie, Kelly and Georgia Z all went through pre-symptomatic genetic testing in 2020, during the Covid-19 pandemic, yet they had different experiences of receiving their results. Maggie’s counsellor asked her whether she wanted to receive her results over the phone or by letter. She asked to be called on her landline so she would be at home when the call came. Whilst she valued being in her own environment, she felt that having a video appointment would have been better.

Georgia Z asked to receive her genetic testing results over the phone. Having an appointment with face masks and social distancing was not the experience she wanted.

You know, when I did go to the hospital we were all in masks, so again, you know, I was going through counselling and they couldn’t really see my expressions and I guess that would’ve played a role if I looked really nervous and I seemed a bit unsure but I was saying, “Yeah, yeah, I’m fine”; You couldn’t tell because I’ve got a mask on.  Which is again why I said, you know, “Call me with the results” because to me what, there wasn’t really much of a difference getting it over the phone or seeing someone and having to be distant, and. I just didn’t like the experience. It’s not the kind of experience you want for something so serious, yeah.

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Kelly and her counsellor chose to have a face-face appointment. They decided that only Kelly and her husband would be present, which Kelly felt was the right decision so she would not be worried about her mum’s reaction.

Initial reactions to receiving a negative result

For the people we spoke to, being told they did not carry the particular genetic variant of inherited MND identified in their family was both a shock and a huge relief.

On finding out that her mum did not carry the C9orf72 gene variant, Kirsty felt shock and disbelief. She was grateful that her mum and immediate family had “been spared”.

I mean, it was a shock and the shock – but a good shock. I mean shock’s not normally a word that you say is a good thing, it was… It’s really hard to describe. It was just … yeah, the relief is, I can’t really put words to how big of a relief it was. But also it was I guess almost like disbelief in a way, it was like, “Really? Really?” And I remember wanting to almost go back and check to say, “Have I heard this right? So that really, really means that you definitely can’t, like it’s 100%, there can’t be a mistake here, right?”
 
I remember that night I was – this is going to sound a little bit corny – but I was looking up at, I think I was looking up at the moon, and I’m not a religious person, I’m not somebody who prays, but I said, “Thank you” to the universe or something, I was just like, “Thank you. I don’t know who you are that I’m talking to, but just thank you that we’ve been spared, that my mum has been spared”.

 

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Kelly describes the appointment where she received her pre-symptomatic genetic test results. Being given a negative result was “the most amazing news”, and she felt a weight lifted from her.

We got there… I was quite calm, and my first counsellor walked past, and she was like, “We’re just waiting for the second one”. So then I changed a bit because I was like, “Right, brilliant, we’re stuck here getting the most life changing news ever and the second counsellor’s late”. So, we finally got called through and I sat there, and you can’t read people’s facial expressions when all you can see is their eyes. And she sat in front of me and she just went, “the easiest way to do this is as blunt as it is, we’re going to tell you the results and we’ll go from there”, and I was like, “Right, okay”.
 
I was trying to see if there was any giveaway from her because she’s already read these results, she knows what she’s going to tell you, but there’s no facial expressions. And I’m sat there and [husband] was sat holding my hand and she went, “I’m very pleased to tell you you’ve not got the gene”. And I didn’t know what to say because I was so convinced that that was going to come back and say positive, I just sat there and cried. Then I started laughing and I was just so thankful, and I was just shell shocked, and I was just continuously crying and I’m like, “Thank you so much” and “I know I’ve been like the hardest patient you’ve probably had to deal with in the history of ever”. But just hearing that… in the back of my mind I’m still thinking, “My cousin’s got it, how am I going to tell her this?” But it was the most amazing news I could have ever had [laughs].
 
It was weird because people say when you have that feeling of the whole weight lifting off of you, I have never experienced it until that day. Honest to God, I just kind of like lifted and I was just like, “Oh my god, the whole wait is just over”, it was a very surreal experience.

 

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Maggie, Kirsty and Kelly had all expected bad news. Kelly described how “I’d kind of prepared for the worst because it’s easier to deal with in thinking it’s going to be the worst case scenario; anything else is a bonus”.

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.

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For those with children, receiving a negative result has wider implications for them too. Where a parent tests negative for the genetic variant in the family, their children are no longer at risk of having inherited this particular gene variant. For Kirsty, this meant that she did not have to consider having pre-symptomatic genetic testing herself.

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.

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Adjusting to knowledge of a negative result

For some of the people we interviewed, being told they had not inherited the particular gene variant identified in their family was an adjustment to the future they had imagined.

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?

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Georgia Z feels reassured to know that she hasn’t inherited the C9orf72 gene variant, but knowing that other relatives could develop symptoms makes this “bittersweet”.

Yeah, I mean, you know, obviously we all die of something but I think I definitely feel more confident knowing that I’m probably not going to die of something that’s uncurable, so I think gives me a bit of reassurance just in life in general. I mean we don’t know what’s around the corner, but that I think has made me feel positive to know, you know, because I think it really stabs you in the heart to know that this isn’t curable yet.

So I feel maybe that is why I’m so positive because I, I know that I don’t have to worry about that illness because in my mind that is the worst disease out there. So to know I’m kind of safe from that is a nice feeling. But I also have to be sensitive to my family members who may or may not have it.

So I don’t, you know…My partner actually says to me a lot like, “How do you feel? And how do you…” and honestly I was just like, “I feel fine”. I was – but I think that is because of my cousin’s results. You know, I’d probably be screaming it from the roof if it wasn’t the case for her, because I’d be like, “We’re done and dusted with this disease, you know, it’s never coming back”, but it’s not, that’s not the case. So yeah, very bittersweet.

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Georgia Z raised how some people struggled with knowing that other family members could be affected by MND. Kelly also has a close relationship with her cousin who received a positive pre-symptomatic genetic test result. Georgia Z and Kelly found sharing their results difficult, though both said their relatives were happy for them and supportive. Maggie was told by her counsellor that how she felt about her results could change, but she doesn’t feel it did. She hasn’t struggled with feelings of guilt as her counsellor said some people might.

Although some people found they were able to process the results and move forwards, others found it took some time to adjust to the news of a negative result.

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.

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Kirsty struggled with knowing what to do with the fears and emotions that had accompanied her since finding out about the family history of MND. There was a feeling of “Now what?”

Yeah, so, and then I guess for a good couple of weeks though it was weird because in theory this had now kind of stopped, it put an end to that whole journey for this branch of the family, for my mum, for me, for my sister, for my niece. You kind of come to the end of the road, but you’ve been on this road for a really long time and there’s all, I’ve said there’s all these thoughts and feelings and fears and emotions that have accompanied you and have been with you for quite a long time and now all of a sudden you get to the point where they can all just like… But they don’t just dissipate just like that, and there’s sort of this feeling of not quite knowing what to do with it all and where to put it and where does it go, and.
 
And then day to day life just sort of, as it does, the world keeps turning and you get up each day and there’s stuff to do and you’ve got to go work, but you almost feel like, “Hang on a second, how can I just be going about my day to day business, how can I just be making tea when we’ve got this huge news, it’s so big?” And it is, it’s huge, but then you’ve got it and now life goes on.
 
So, there’s just, it’s strange and I think we all said – me and my mum and my sister – all said that we felt the same, it was almost, I don’t want to use the word anti-climax, but in a way I guess maybe that is the word. You sort of like [intake of breath], and then, “Oh, now what?” And now nothing, like that’s it [laughs]

 

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Kirsty valued the interview as an opportunity to discuss her experiences. Through her testing process, Kelly has learnt that “talking is good”. Following her result, she appreciates being able to talk openly with her mum and cousin.

Attitudes to life, plans and decisions

Receiving a negative result can see a shift in perspectives and attitudes to life. Some people we spoke to had a sense of being “lucky”. Kirsty described how “you sort of feel like you’ve just escaped something, like there was a close call”.

Going through genetic testing has changed Kelly’s outlook on a lot of things. She has a new appreciation for her health and has given up smoking.

It put a lot into perspective for me like, you know, your health is something we take, we take it for granted. I mean I, I know I did. I was a smoker, I mean the day after I got the results, I quit smoking. So yeah, it kind of changed my viewpoint on a lot of things but I’m very glad I did do it.

Then I kind of realised that if I’m going through all this process to make sure my kids are healthy, I’m sat here putting, you know, all this crap in every time I hold a cigarette up to my mouth. So, I said, “Do you know what, regardless of what the test results come back, as soon as they’re back I’m stopping” you know, it’s all well and good going through this entire process and then, you know, carrying on like making myself unhealthy. So, I did, I stopped.

I don’t know, I just feel like in the outcome, outlook of it all I’ve kind of, I’ve channelled everything into, to try and be… you know, I’ve got a relatively healthy body and I’m going to do what I can to kind of keep it that way for as long as I can now, now you kind of realise how precious it is when you run that risk of losing it.

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Whilst Kelly’s focus has been on looking after her body, Maggie has found she is no longer as alert to bodily sensations or possible symptoms, which before her test was something that worried her. Maggie described how “the horizons have opened up a bit more”. She felt pleased that she could continue to enjoy everyday life with her family.

Other people we spoke to also talked about how knowing they do not carry the C9orf72 gene variant impacted their views on and plans for the future. For Kelly and Georgia Z, knowing they wanted to have children was a factor in their decisions to have genetic testing in the first place.

Kelly feels lucky to be able to move towards the future she had hoped for, in terms of planning for a family and other goals such as buying a house.

It hasn’t really changed any of our future, we are just extremely lucky that we get to go ahead with our future the way we wanted to. We will still be looking at adopting or fostering in the future as well as having our own kids. We’ve got goals, my husband wants to set up a company, he wants to proceed with that. He kind of put that on hold while we were going through the testing process because it was a lot to be dealing with, so many plates in the air at once so to speak.
 
So all we’re doing now is getting the ball rolling with, you know, we’re applying for our mortgage, he’s setting his business up and I think in terms of things like that we feel like we’ve got a lot more opportunity open to us now.

 

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Kirsty also felt grateful that she wouldn’t have to consider inherited MND when making decisions around having a family.

Kirsty feels grateful that she will be able to focus on starting a family when it is right for her and won’t be faced with difficult decisions around genetic testing before or during pregnancy.

So, how has it changed your thoughts or your plans for the future?
 
Well, I mean I joked to my sister, I was like, “Oh, I can go and get pregnant now with wanton abandon” [laughs]. I guess it just, that side of things it’s great because it just means that now I can think about having children when I want to, when it’s right for me, with all the normal considerations that go into planning a family. So that’s really awesome to be able to just take all of that talk of IVF and embryonic testing, all of that just falls away.

 

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Georgia Z said, “I just know that I can kind of live life to the fullest, I don’t have to worry”.

Reflecting on the decision to have pre-symptomatic genetic testing

Maggie, Kelly and Georgia Z remained pleased with the decisions they had made around genetic testing. Maggie felt the timing had been right for her, as she “wasn’t ready” to do it sooner. Kelly also felt that waiting was the right thing to do.

When Kelly initially considered genetic testing, “it was for the wrong reasons”. She feels that waiting to have the test was right for her, as she was clear on why she was doing it.

I think my timing was right for me. I think if I had had it done when I initially wanted to, I was doing it for the wrong reasons, and I think it was a bit stupid of me to… yeah, I probably could’ve even enquired about it and you know, knowing what I know now, even if I’d gone to the GP when we first found out and started the process, I probably would’ve been, you know, in a longer processing queue just seeing the counsellor a bit more before we got the test done, maybe it would’ve put my head right, but.

I think if I’d put, delayed it any longer I probably would’ve regretted it, just because if, you know, if we had decided in the meantime to have kids, you know, my kids could’ve had that gene if I’d had the gene; it would’ve been taking a very big gamble. So, I think realistically, I, when I went it was the right time for me because I was married, we’d had our honeymoon, we’d had that happy period. We, it was something, I wouldn’t say a massive negative, but it was something that I had to do for my future, and I wasn’t doing it just for the reasons of, “Oh my god, someone in my family’s got this gene”, like a panic moment. It was going into it with the right thoughts of, “I’m doing this for my future children”.

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MND as an ongoing presence

Although the people we spoke to felt relieved and grateful that they themselves had not inherited the gene variant linked to inherited MND identified in their family, they highlighted that MND would continue to be a part of their lives. Some had lost relatives to inherited MND, had relatives currently affected, or were worried about the possibility that other family members could develop the disease in the future.

For some of these individuals, it was important to use their experiences to help others. This included through fundraising or raising awareness on MND and supporting other relatives who had an increased risk of developing the condition. Kelly and Maggie have volunteered to take part in research as control samples for family members.

Maggie looked forward to being able to get together with family to mark the significant events that had happened since the start of the Covid-19 pandemic, including celebrating the life of her brother, John.