Inherited motor neurone disease (MND)

Sharing pre-symptomatic genetic test results with family, friends and others

This section is about people’s experiences of sharing pre-symptomatic genetic test results with family, friends and those around them. It covers:

Sharing pre-symptomatic genetic test results
Being told a family member’s pre-symptomatic genetic test results

Pre-symptomatic genetic testing is only available where a genetic variant of inherited MND has been identified in an affected relative. It allows people to find out if they have inherited this gene variant and have an increased chance of developing symptoms.

Sharing pre-symptomatic genetic test results

Deciding who to tell, how and when was a common issue. Some individuals who had received a positive pre-symptomatic genetic test result were open about passing on this news. For Anthony, there isn’t any “stigma” attached to sharing his positive result. As well as telling close family and friends, he and Harriet have both shared their experiences as part of fundraising they have done. Others, like Lillian, felt they didn’t need to share their results beyond a few trusted people.

Lillian has been “selective” about sharing her pre-symptomatic genetic test results. She doesn’t want people to feel sorry for her or “make any allowances”.

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Lillian has been “selective” about sharing her pre-symptomatic genetic test results. She doesn’t want people to feel sorry for her or “make any allowances”.

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Age at interview: 55

Sex: Female

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Well, my husband was there with me for the results, so that was one. I shared my result with the people in the family who knew about it, so they could pass the news down to the family below about what was going on. I have told a very few of my friends, but not all of them because on the face of it there isn’t anything wrong with me, I haven’t been given a diagnosis of an illness, I’ve been given a diagnosis of a genetic repetition that may cause something, and it’s a bit different than saying, “I’ve got”, because I haven’t got motor neurone disease.

But I’ve been very selective about who I’ve told because I don’t, in a way I don’t want people to feel sorry for me, I want just people to carry on like there’s nothing wrong with me because there is nothing wrong with me. And I don’t feel the need to share it very much wider, because just my very closest trusted friends, it will probably make them understand if I do have ups and downs sometimes and what will possibly trigger me to be a little bit lower sometimes, not that any of them would notice to be honest. When I told them they said, “I can’t believe that you’ve been through all that counselling, like gone through a year of going through this and got a result and you never said anything”, and they never detected that there was anything wrong.

I don’t feel a great desire to share it, and certainly it’s not something I’m going to tell work because I don’t want people to make any allowances. When they seem to, when people think there’s something, without having to explain it in infinite detail, I feel they might try to make allowances for whatever it is they think I’ve got, and there is no need to tell work.

So no, it’s not been shared very widely. It’s been hard sharing it with friends because most of my friends have known me since my dad died, so, or from before my dad dying so they understand that it’s something that I’m worried about, it’s a disease that I really don’t want to get, I don’t want my life affected that way, and I don’t want my family’s life affected that way.

So, it’s been difficult, but they’ve all been really good about it. They’ve been really understanding and they’ve asked me relevant questions, actually they’ve asked me intelligent questions about it and questions like, like the things that go through my head, which is, “What age will you onset?” and “I don’t know” you know, “Is there anything around that can stop it? Is there anything you can do?” they’ve all asked really intelligent questions, but they know it’s not something I want to talk about every time I meet them.

Anthony and Jade focus on the “positives” when sharing with others that they carry the C9orf72 gene variant and have an increased risk of developing symptoms, highlighting developments in research and their own involvement in research studies.

Jade’s approach to sharing her pre-symptomatic genetic test result has been to deliver it with a positive, so people know that “it’s not the end of the world”.

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Age at interview: 32

Sex: Female

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I don’t make things like this hugely public. I don’t broadcast my life on Facebook like a lot of people. The people that know I have the gene are the people that need to know, so my husband, my mother-in-law, my mum and my brothers. In turn, I think they probably told people that, like their friends, because they probably wanted some support and wanted to talk it over with somebody who wasn’t me, which is absolutely fine by me. I’ve spoken to my granddad about it who’s still alive, my dad’s dad. I phoned him up and said, “Just so you know, I am the same as your daughter and your son but I’m doing something about it. I’ve got the gift of foresight and I’m going to be helping [research centre] with their genetic research, so that we hopefully don’t have to lose anybody else.” My grandfather was really happy about that and I think he was kind of grateful that I could do something and that I was willing to do something.

That was a positive sort of… when I tell people that news, if I haven’t seen someone for a while and they say, “Oh, how have you been?” I might mention that I’ve been up to [research centre] and spent a whole day doing brain scans because it’s the most I’ve really got to talk about with lockdown [laughs]. But I always deliver it with positives, that I’m helping, and that there is something of a cure out there now so it’s not the end of the world. It is the way it is and we’ve got to do what we can.

Yeah, yeah.

So I don’t always… I’ve never delivered it as a negative apart from the day I found out, when I phoned my mum. I had no idea she was in Tesco and I said, “Sit down, mum. I’ve got the gene,” and she was in Tesco and I’d never have done that if I’d have known where she was [laughs]. I would have waited until she was at home and could have a glass of wine and I would have said, “Just to let you know that I’ve got it and it's not good.” With my brothers, I think I just texted them and said, “I’m really sorry to tell you that I’ve got my result and it’s not the result we wanted, but it will be okay”. Because not being okay simply isn’t an option. So you can always deliver bad news with a positive, and I don’t think I cried on anybody until probably about a couple of days later.

People shared pre-symptomatic genetic test results in different ways, whether in person, over the phone, on a video call, or by text message. Some families had WhatsApp groups to share news with each other. Kelly had arranged to meet her mum at a certain time to share her results, so her mum wouldn’t panic if she didn’t phone straight away. Jade told her mum on the phone without realising she was at the supermarket; if she had known, she would have waited until she was at home. Georgia Z showed her partner a video she took after she had the blood test; she waited until she received the results to tell him that she’d had the test.

Because her partner was so against her having the pre-symptomatic genetic test, Georgia Z went ahead without telling him. She is glad she did what was right for her.

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Age at interview: 26

Sex: Female

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Well, the only reason why I wouldn’t have done it is because my partner was so against it. He just, from seeing my mum. We actually, we’d been together six months and then my parents were both diagnosed so he was put in the deep end with us. So he was just like “Georgia, I’m petrified, I’ve seen what your mum’s dealt with and your aunt and it’s too much”. I think he was thinking, “I’m going to be a carer for…,” like I’d already been diagnosed.

So yeah, I went ahead, and I didn’t tell anyone, and then I went to dinner with my partner that evening [laughs]. Well I said to my boyfriend, I did say, “Oh, I’m going for that appointment to talk about it and going through with it”, but I don’t think he was really taking me serious, I don’t think he was actually understanding what I was saying, but I didn’t push for it. I was just like, “Alright”, and at the end of the day, “If I was positive and you don’t want to be with me, that’s your loss” [laughs].

But I did wait to tell him and I’d actually done a video after I went to the hospital with my blood test and all the plaster, and I just said, “Today is this day and I’ve just had the test and we’ll see the results soon”, and I played that to him a few weeks later and he was like, “What?”. He was just, and then I was like, “Yeah, I came back negative”, and he just cried and he said, “I feel like I needed this without even knowing I needed this information” [laughs]. So yeah.

Wow

I will never listen. I just, if I feel something I just go for it, and I’m glad I did.

Yeah

Because in the kindest way I love him to pieces but he’s very black and white and just out of sight out of mind.

When sharing their results, people reported that reactions varied, from being upset, sympathetic and shocked, to surprise at not being told sooner, or “in denial” about what it meant. Anthony’s mum felt sad at passing on the C9orf72 gene variant, but his view was that “it’s no one’s fault”. Although they were “gutted” for him, Calum felt some family members couldn’t understand or were a bit “blasé” about it, especially if they hadn’t seen the disease first-hand. He told some friends that he carries the C9orf72 gene variant but hasn’t told others. He said, “it’s just this awkward quietness and it gets to the point where you’ve had enough awkward quietness, you don’t want to tell any more people”. He would have liked to have someone in a similar situation to talk to.

People we spoke to who had received a negative pre-symptomatic genetic test result also shared their experiences of telling others. Maggie commented “I mean, it’s easy to give good news, isn’t it?”. She advised other people to take the time they need to process their results before sharing them with others.

Kelly was pleased to share her negative result with her family and colleagues who had supported her over the pre-symptomatic genetic testing process.

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Kelly was pleased to share her negative result with her family and colleagues who had supported her over the pre-symptomatic genetic testing process.

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Age at interview: 30

Sex: Female

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So, my mum was the first person who we told, and it was great. My mum’s there ringing the entire family up, like giving like an engagement announcement or a baby announcement or something… she was absolutely made up.

We came back home, and we told my mother-in-law. She was the same, everyone was crying. Then my boss is pinging off my phone rapidly going, “I need to know, how was it?” and I told him that it was negative and he went, “I’m so happy for you”, he went, “Look, take the next two days off, get drunk tonight, celebrate, whatever you need to do, do it”, so he gave me a few days off to wrap my head around it.

I went into work and my colleagues were going, “Oh, well done, we’re so happy for you.” I mean, I think it would probably have been a lot harder had it been a positive, but I know everyone around me would’ve supported me regardless. But it was just really great being able to tell everyone who’d been on this ridiculous journey with me and my meltdowns and my tears, “It’s fine” [laughs].

To be honest, when I told my cousin I was a bit apprehensive, and she was just so pleased for me.

She knew I was going in on that day for them and she did tell me before I went and she was like, “Look, no matter your result, even if you don’t have it, I don’t want you to feel like you can’t tell me, so please just let me know”. So, I rang her - sorry, I sent her a message saying, “Just so you know, I’ve got my results back. I know you’re in work, but I haven’t got the gene, I’ll speak to you later”, and she literally ran out of work, ran into the car park to ring me and she was like, “I’m so happy for you… I’m so glad”, you know, that as it stands the gene is only with her. So yeah, she was very, very supportive.

As Kelly suggests, sharing negative results could also be difficult, and a few people felt worried or apprehensive about sharing their results with family members, particularly those who had also been through pre-symptomatic genetic testing and received a positive result. Georgia Z described how she “couldn’t find the words” to pass on the news of her negative result to her cousins and asked her uncle to tell them, describing it as ‘bittersweet’. Although it could be hard to have such conversations, people in this situation often found their family members were happy for them and supportive. Jade worried her brother would feel “guilty” that she had tested positive when he had tested negative, but he said, “it’s just the way it is”, and offered to take part in research as a control sample.

Being told a family member’s pre-symptomatic genetic test results

People we spoke to described what it was like to be told a family member’s pre-symptomatic genetic test result. It could be upsetting to hear that a family member carried a gene variant linked to inherited MND, and difficult to know what to say or how to support them. It could also be emotional to hear that a family member had tested negative, particularly if they themselves had tested positive. Although no one wanted their relative to be affected, some people in this situation couldn’t help feeling “it’s not fair”. People described feeling upset, jealous, or alone, even if the feeling passed quickly and they felt guilty afterwards. One person explained, “I’m so, so happy for them that that’s their future… they deserved a bit of good fortune. I’m not proud of this feeling - but couldn’t help but feel like…. ‘Oh, I’m out here on my own with this’. And it’s not for a minute wanting them to be positive, but there’s that ugly emotion bitterness slightly with it”.

For another individual, their sibling’s negative result filled them with hope that they might also test negative (their father had died of a different illness, so they didn’t know if he had inherited the genetic variant in the family). Even though they tested positive, they felt happy for their family members who did not carry the genetic variant and had a sense of “taking one for the team”.