Inherited motor neurone disease (MND)
Receiving a positive pre-symptomatic genetic test result
We interviewed six people who had had pre-symptomatic genetic testing and received a positive result. We spoke to them about the impact of finding out that they have inherited a gene variant linked to inherited MND and have an increased chance of developing symptoms in the future. This section covers their experiences of:
- Being given a positive result
- Feelings and reactions
- Processing the result
- Reflecting on the decision to have pre-symptomatic genetic testing
Being given a positive result
The people we spoke to had known about their pre-symptomatic genetic test result for varying amounts of time, from around 8 months (Jade) to 7.5 years (Lizbeth). Most of the people we spoke to were accompanied by their partner to the results appointment, though Calum and Jade were alone when they were given their results. Although the people we interviewed generally received their results in person, Jade asked to have hers over the phone because she did not want to wait for an appointment, following delays caused by the Covid-19 pandemic. Whilst it was good to be in her own environment where she could process her emotions, she couldn’t focus on what she was being told and had no one else on the call who could take it in.
The people we spoke to described the appointment where they received their results. Lillian was given her results straightaway. After that, she felt there wasn’t much more to say, and she had “an overwhelming desire just to get out of there”. Although she was calm at the appointment, she was upset afterwards. Calum and Lizbeth also described their feelings at the time.
Although he had a sense of what the result would be, being told he carried the C9orf72 gene variant was difficult to comprehend. Calum felt “gutted” and couldn’t really talk about it.
Although he had a sense of what the result would be, being told he carried the C9orf72 gene variant was difficult to comprehend. Calum felt “gutted” and couldn’t really talk about it.
All I had was a date that I was going to see them again, and I had asked them to, and they had asked me in the previous appointment how I wanted the results presented to me and I said you know, “I just want it told to me straightaway, I don’t want any niceties around it, just get on and tell me straightaway”, and again, they’d offered me a chance to have somebody there. I think I’d asked somebody different to come with me but they couldn’t make it, so I went to the appointment on my own.
I can’t remember if it was the counsellor and the doctor or just the doctor, I think it would’ve been just the doctor. So the doctor sat me down straightaway and was like, “You’ve tested positive for this gene”… Yeah, I think, I just felt like my hand was in my mouth, but I couldn’t comprehend it really, I think kind of felt relieved to know, but I got the result and I was just, it felt like I knew already. I think I was gutted, there was no question about it, I think I was gutted, but you can’t do anything about it, so you just have to plan going forwards.
So I took that result very quickly, there was nothing she could do or say that would sort of change it and you know, I didn’t cry, I didn’t do anything, I just, I kind of just took it , and I decided to sort of leave really. There wasn’t anything else; it was you know, I couldn’t really talk about it. So, I went and sat in my car in the car park for a little bit and I just yeah, I don’t know, I just took it in, and I think I was absolutely gutted, I was really, really gutted.
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.
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.
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.
Some people found it hard to remember exactly what happened once they were given their results. As Jade said, it was “a bit of a blur”. Others used words such as ‘deflated’, ‘empty’ and ‘frozen’ to describe how difficult it was to take in at first.
Anthony and Jade were given information about research studies at their results appointments, which was something they felt strongly about doing. Getting involved in research was important to many of the people we spoke to.
Feelings and reactions
Even where people expected bad news, being given a positive result was a “shock”, a disappointment, and upsetting. Calum and Jade described feeling that the world stopped spinning for a moment. In spite of their emotions, other people we interviewed tried to “take stock” and focus their minds.
Anthony felt “deflated” when he was given the news, but tried to focus on the fact that he was well in the present, and on his reasons for pursuing pre-symptomatic genetic testing in the first place.
Anthony felt “deflated” when he was given the news, but tried to focus on the fact that he was well in the present, and on his reasons for pursuing pre-symptomatic genetic testing in the first place.
And can we talk, if you don’t mind talking a bit about what happened when you received your results, and your feelings at that time?
So I mean, yeah, you go in there, even though you go in there and you’re dead set to have it and you think you’ve got it, you’re still deflated when you’re told. My wife got very upset, so I was more concerned about my wife really, at the time.
But you have to focus your mind and not, you know… there’s nothing wrong with me at the time and hopefully now, fingers crossed. And then you’ve got to look forward, basically, and even though you are, it’s not… you’d rather go in there and be told you haven’t got anything wrong and you carry on and you be elated, but you do get a lot of things in life where you get bad news, and a lot of those things are worse than being told you have a genetic disease, that you might get something in the future, yeah. So for me, it wasn’t the worst conversation I’ve ever had, by a long way.
But after the initial shock, then you have to go back to why you got the test in the first place, yeah, that’s where we’re at.
Being given a positive pre-symptomatic genetic test result made something that was a possibility “become real”. Although it was “crushing”, Jade tried to take stock and think about the practical things she could do.
Being given a positive pre-symptomatic genetic test result made something that was a possibility “become real”. Although it was “crushing”, Jade tried to take stock and think about the practical things she could do.
When I got the positive result news given to me, it was, it really was like, “Oh my god.” It just, it made something that was a possibility become real. And in no way like anything I’ve ever experienced before. Like when I had my son and I was pregnant, it was like, “I’m actually going to have a baby.” Then a few months later I was holding my son and it was like, “Wow, I made a baby, look at this little dude.” It’s like it doesn’t feel real yet, you know?
People say that, it doesn’t feel like it’s real. If you’re going to move into a new house, it’s like, “It doesn’t feel real, it’s so lovely. It doesn’t feel like it’s actually going to be mine.” Then when it does happen and it isn’t something you wanted, it’s a little bit crushing.
It’s like you just have to pause and take stock and be like, “Okay, regroup, take a deep breath, what do I need to do? Where do I go from here?” And it was like, “Right, oh my god, I need to sort my will out, I need to increase my life insurance, I need to do this, I need to do that.”
Some people found it hard to think about how they could be affected in the future. For Harriet, who had just lost her mum to MND, this was particularly vivid. Where people seek pre-symptomatic genetic testing to inform decisions over having children, a positive result can also have immediate implications for those plans.
Being given a positive result also has implications for people with children. Where a biological parent carries a dominant gene variant associated with inherited MND, each of their children has a 50% chance of having inherited this gene variant. Although carrying the gene variant does not guarantee a child will develop MND in their lifetime, this aspect can make genetic testing results particularly hard to take.
Jade was pregnant when she found out about the family history of MND and had genetic testing. She felt an overwhelming sense of guilt when she realised her daughter could be affected.
Jade was pregnant when she found out about the family history of MND and had genetic testing. She felt an overwhelming sense of guilt when she realised her daughter could be affected.
I just remember feeling frozen. Like to me, at that point, it felt like a death sentence. And then the weight of the guilt for having my daughter was overwhelming. I was like, “I can’t believe I’ve brought this baby into the world. I knew I could have had this gene and I have got it, which means she could have it. What have I done?” That was hard, really, really hard. It was actually my mum that said to me, “You can’t look at it like you’ve given her a death sentence. You gave her life and you brought her into the world and you’re doing everything you can by helping at [research centre], doing the research. You’re doing everything you can to mean that if she has got it, which she might not even have it, you’re doing what you can to give her some help when she’ll be old enough to need it.” I thought well that is a good way of looking at it, so that’s the only way I can look at it now.
Processing the result
Processing their pre-symptomatic genetic test result was difficult for some of the people we spoke to and took a significant amount of time. For Harriet, her aunt’s funeral was a climactic point, where she felt an “outpouring of grief and sadness”. Within the space of two months, she had lost her mum and aunt to MND, and been told she carried the C9orf72 gene variant. For Calum, finding out his result was “another weight on your shoulders”. He found this hard to process, particularly as he didn’t have anyone to talk to who was in the same situation as he was. Although he has ambitions in life, there have been times where Calum has found it hard to see the point of carrying on. He described how, “It didn’t sink in, nobody asked me a question about it, they were just like shocked for me, but everyone else’s life just goes on like normal whereas your life doesn’t. It stops for a moment and then starts moving again, but you know it’s stopped because you’ve found out that could happen to you or not, and it’s a horrible thing to think about”.
Lizbeth found it hard to cope after receiving her results, which had a big impact on her family. She tried to end her life four or five times, and it took several years to find a turning point. She feels strongly that there should be better professional support after the test, which will be covered further in advice and messages to healthcare professionals.
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.
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.
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.
Whether they have been through pre-symptomatic genetic testing or not, knowing they have an increased chance of developing inherited MND can have an ongoing impact for some people.
Although some people found it took time to adapt to the knowledge of their positive result, others found they were able to move forwards with their lives. Jade felt her outlook changed after finding out she carried the C9orf72 gene variant and had an increased chance of developing MND in the future. She said, “it’s a bit more depressing to know I have got it when I was really kind of hoping I wouldn’t, but once you have time to process that information and process the implications, you get to the stage where I’m at now and you kind of just get on with it. Life is life, it’s all good”. Anthony found that the initial upset only lasted a few days; now, he tries to focus on making the most of every day and living life to the full, rather than dwelling on something that “may or may not happen”. Other people we spoke to also reflected on the impact of inherited MND on their attitudes to life, priorities and perspectives.
Reflecting on the decision to have pre-symptomatic genetic testing
In spite of their feelings at the time and any difficulties they had experienced since, no one we spoke to said that they regretted having the pre-symptomatic genetic test. Whilst not the outcome they had hoped for, their results gave them the knowledge they had wanted when thinking through the reasons for having the test in the first place.
Jade hopes her pre-symptomatic test results will inform her children’s decisions around having families of their own. She is positive about the possibility of stopping the disease in future generations.
Jade hopes her pre-symptomatic test results will inform her children’s decisions around having families of their own. She is positive about the possibility of stopping the disease in future generations.
I wondered, reflecting back, how you feel about the decision you made to have the test?
100% behind it because I know that I have the gene. I can be, like I say, I’ve got the foresight of knowing I’ve got it, which means my children have it, which means that the buck stops with me. Unfortunately, it also stops with my children because I would hope that when they’re old enough that they decide to have the test, and if they’re going to have children then they can have the IVF and factor it out. And then we stop this disease and we stop people having to say goodbye to people they love before they’re, you know, before they become old, you know? I know people die every day, I could get hit by a bus tomorrow, but if they didn’t have to die like that, then that would be a small… it would just be a little ray of light. Like, we can stop this, we can do something about it, let’s do something about it. So, I’m still behind my decision. I still would have done everything the same and I wouldn’t change anything.
Lillian stands by her decision as the right thing to do. She doesn’t feel she is more worried than she was before the test, when she knew about the possibility of having inherited the C9orf72 gene variant. For her, “it’s a different kind of worry”. Lizbeth also remains glad that she had the test. Although it wasn’t easy, it was the right decision as it gives her more informed choices. Calum feels grateful for having the test, as for him it is important to know what he could be dealing with. He sees it as a benefit to be able to plan his life with this knowledge.
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