Jade

Age at interview: 32

Brief Outline:

Jade is 32 and is married with two children, who are 1 and 2. She works part time as a housekeeper for the NHS. Ethnicity: white British.

Jade’s aunt and nan have been affected by MND and FTD. She decided to have pre-symptomatic genetic testing and received a positive result. Although she has struggled with feelings of guilt, Jade now sees it as part of life and focuses on the positives.

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Jade found out about MND in her family when her aunt developed the disease. She had genetic testing before she passed away, which showed that she had an inherited form of MND. At this time, the family knew that something was “not quite right” with Jade’s nan. She had genetic testing and has since been diagnosed with MND and frontotemporal dementia (FTD). It is thought that her own dad could have also been affected. Jade’s father died from a brain tumour in 2011, so she could not find out his genetic status. 

When Jade found out about the family history of MND and FTD, she did not seek out further information; her approach was not to worry about something that may never happen. She was pregnant at the time and considered testing and terminating the pregnancy if found to carry the genetic variant linked to inherited MND. However, she felt that her daughter was already forming and that she couldn’t take her life away. She decided to have pre-symptomatic genetic testing, as she didn’t want to live in “limbo”. She wanted information to pass to her children so that they could make informed choices around having families of their own. She hoped that if she developed symptoms, she might be diagnosed more quickly and be able to benefit from potential treatments.

Through genetic counselling, Jade was told that it was the C9orf72 gene variant that had caused MND and FTD in her relatives. She valued the clear information she was given by her counsellor, which made her less afraid. Jade was asked to wait until after her baby was born to receive her results. When the time came, she asked to have her results over the phone, as she did not want to wait until after the Covid-19 lockdown to have an appointment. She was told that she did carry the gene variant. She felt shocked and “crushed” and describes the phone call as a bit of a blur. Jade’s brother, sister, and cousin, Kelly, have received negative results.

Jade has struggled with a sense of guilt over the possibility that her daughter could have the gene variant. She has tried to move on from these feelings; she reminds herself that her children may not be affected, and if they are, she is hopeful that there will be a treatment or cure. Jade feels strongly that if she were to consider having a third child, she would use genetic testing to ensure they did not carry the gene variant associated with inherited MND. However, she sees this as unfair to her son and daughter, as they could be affected but their sibling would not. Jade has therefore decided not to have more children.

Some months after receiving her test results, Jade feels that knowing she could develop MND or FTD is just part of life. She focuses on the positives and feels grateful for her family and what she has. She wants even more to take opportunities as they come. In this sense, she sees her experiences as a “gift”. Jade has considered how to plan for the future. She has put in place financial preparations and written a will. She has moved house to be close to family, so that her children and husband have support if she were to become ill.

Jade has taken part in research around inherited MND, which has involved various scans and tests. She is pleased to be able to tell her family that she is doing something positive to help future generations. She encourages others to remember that receiving a positive genetic testing result is not a “death sentence”, and to enjoy life.

Finding out the name of the C9orf72 gene variant in her family makes it “less scary”. Jade feels reassured that it is known about and being targeted by research.

When you give something a name, it makes you a bit more confident, doesn’t it? If it doesn’t have a name, it means you don’t know anything about it. But these guys have a name for it, they know what it is, they know how it attacks the cells in the body, and they’re watching it and they’re making real ground-breaking research with it. So it’s reassuring to know it has a name and that we know about it. It’s like we’re not just trying to put our hands out in the dark and find something; we know what this is. That makes it less scary.

Jade isn’t as worried about the possibility of developing FTD as she is about MND because she doesn’t feel she would be as aware of what was happening.

Dementia doesn’t bother me so much because you don’t suffer so much physically in the way of your body shutting down and your swallowing and things. You just go a bit nuts. I kind of figure that if that happens, I will be in cuckoo land and it won’t matter so much. I said to my husband, “Just stick me in a nice little home and only visit me if I’m pleased to see you.” [laughs] “If I’m horrible, then don’t even bother because I won’t know anything about it. Don’t put the kids through it.” I mean, having watched my father die, I would never want my children to see anything happen to me, especially like how my father died. So, it’s made me think, you know, if something happens, just shove me away in a corner and let me die quietly, but if it doesn’t, then great. What will be will be. And I’d rather have the FTD than the MND, [laughs] if I get a choice.

Jade points out that life is unpredictable, and no one knows when they are going to die. The possibility of developing MND doesn’t scare her because “it hasn’t happened yet”.

I guess it doesn’t scare me because it hasn’t happened yet. I can’t sit here every day of my life and think, “Oh my god, I could die of this,” because we could all die tomorrow. I’ve got friends that have died in car accidents and all sorts. They’ve been very, very young, and it’s just been very sudden and very out of the blue and it’s like, “Oh my god, that person should still be here and they’re not,” it’s horrific. But you can’t get up every day and think, “I’m going to die today,” you just can’t. And you can’t get up and think, “I’m going to get symptoms of motor neurone disease and die today,” because it wouldn’t, just wouldn’t happen like that. You have to live every day as though it’s a brand new day, the sun will come up tomorrow whether you want it to or not, and every day is different but, you know, every day could be the day you die because you just don’t know.

Focusing on the little things that make her happy helps Jade to manage her thoughts around MND. She feels grateful for the “wonderful life” she currently has.

So the way I manage it is just to focus on the things I have got, the things that have happened and are going to happen, like the good things, like – although I can’t book anything – holidays. You know, when COVID is over, I’m going to have a holiday. I focus on these things, you know? When spring is a bit more in swing, I’m going to redo this garden and it’s going to be wonderful out here. I’m fitting a utility room at the moment. I just process each task that I’ve got at a time and I get excited about things that most people would be like, “That’s ridiculous, you have no life” [laughs]. But if I didn’t focus on the little things that made me happy, I probably would focus on this a bit too much. So just one day at a time, happy, don’t worry about what’s never happened yet, and focus on the here and now and how lucky I am. I am so lucky, like I said to you earlier, I have a wonderful life. I am so very, very blessed to have everything and everyone I have. So there’s no point in counting a chicken that may never hatch as a bad egg; I’m better off just enjoying what I have got because it’s brilliant.

Jade plans to retrain as a nurse. Knowing she could develop inherited MND hasn’t impacted her plans; she wants to achieve her goals and “lead by example” for her children.

I’ve always wanted to further my education, I’ve always wanted to retrain and become a nurse. And I’m currently working at the hospital as a housekeeper but when my children are older, I’m still going to go probably to redo my A Levels – I say redo them; I never did them in the first place. Probably get a couple of A Levels and then get a nursing associate and go into the career I’ve always wanted that way. I can start that by becoming a care assistant in the hospital I currently work at. So, I don’t feel like doing that would become a waste of my time if I didn’t have much longer left, because I’d still get something really good out of that sort of a job. You know, I don’t think it would be pointless because I’d do it all only to die, but then you do life only to die. So, it hasn’t really changed my perspective on that; I still want to achieve my goals and I still want to lead by example for my kids.

Being given information on the C9orf72 gene variant at genetic counselling has made Jade less afraid. She appreciated having this explained in language she could understand.

She was incredible. She had a piece of paper and a pen and she explained how it’s basically a faulty gene that repeats itself. She really went into detail but she made it so that the average Joe like me and my husband who both have motor trade backgrounds, you know, we understood exactly how it worked and exactly how, if I did have it, how I would have inherited it and what the implications of it are. You know? She was very, very clear on it and she gave me so much information that, actually, I’m not afraid of it, I don’t want to peel my skin off, it’s just a part of who I am and I’m fine with it.

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.”

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.

 

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.

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”.

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.

Jade was pregnant with her second child when she found out about inherited MND in her family. She decided to continue the pregnancy but has since struggled with feelings of guilt.

Because I had my son and I was very early pregnant with my daughter, I raced to get that test. I considered terminating my pregnancy, but I decided quite early on I wasn’t going to do that, because I thought, “Well, it’s done now, she’s already, you know, she’s growing and she’s forming and to take away her life would be horrendous. So regardless of whether or not I have this gene, it’s too late for it.” [Son], of course, I had no idea when I conceived him anything about it, so I didn’t have any feelings of guilt towards my son but I did carry some feelings of guilt when my daughter was born, because I’d known about this. I didn’t know my result, but I’d known that there was a possibility that I could pass this on to either of my children. And to be honest, they rushed me through the testing because they asked me initially… I basically went from referral to test and to meeting up with the genetic counsellors very quickly because they knew that I was pregnant and they weren’t sure if I would terminate. But I said quite early on, “Actually, I’m not going to terminate. I’m going to have this baby, it is what it is. If I’ve got this gene that’s it, we won’t have any more.”

So when I found out that I did have it, I did feel terrible for a while, for my daughter, because I thought - and to look at her, she’s like a carbon copy of me. She looks just like me at her age, everything. She’s got my hair colour, she’s me. I thought, “Oh my god, she’s going to have this gene,” but I have to remind myself that it is 50-50 and by the time she’s old enough to potentially get this disease, there’s probably going to be a cure for her. So I try not to be weighed down with guilt too much anymore for that, but had I known prior to having either of my children, I would definitely have gone down the IVF route and had the genes factored out.

Since finding out about inherited MND in her family, Jade has decided not to have more children. She doesn’t want to pass on the gene, but pre-implantation genetic testing doesn’t feel right for her.

I, as a mother now, I would say… I almost… and it’s quite a strong feeling that I’ve got on it. I feel that it would be totally irresponsible of me to have more children now, knowing what I know. Because I could be condemning a child to only live maybe 45 years and then die a pretty horrific death and that would be cruel. I think people should, if they’re thinking of having children, I think it’s only with hindsight that someone like me has got, which is, “God, I should have found out before I went ahead with my pregnancy with [daughter],” – sorry, my daughter. I should have found out before I had her because then I wouldn’t be feeling the guilt that I now carry, but then I would probably still feel guilty somewhat towards my son, but actually with him, I don’t think I do because I had no knowledge. I didn’t know.

For me though, personally, I already had one, almost two children at that point, and I thought, “Well, how am I going to have to…” you know, in 18 years, when I decide to just casually mention it, ‘Just pop down and get tested if you want to,’ [laughs]. I thought, “How am I going to explain to two children that they might have this gene and then tell a third one, ‘Well, it’s alright, I don’t know about you, you definitely don’t have it because I had IVF for you.’” How would that make those children feel? So I decided that once I had my daughter, that would be it and I couldn’t have any more because it wouldn’t be fair.

As her children grow up, Jade plans to make inherited MND “part of life”. She doesn’t feel it is worth talking to them about their own risk until they are old enough to make a decision on pre-symptomatic genetic testing.

I’m not going to keep a secret of it because if I give them that as a bombshell on their 18th birthday, then that’s going to be really hard for them to swallow. I’m going to make sure they kind of know that I have a faulty gene and it will only be after they’re sort of 18 that I mention that they might have it too, I think. Because if they see me, as they’re growing up, knowing that I’ve got it and they’re not scared of it and I make it a normal thing, you know, “Mummy’s going off to [research centre] today to do genetic research,” then I think they won’t be scared of it. Then when they’re old enough to make the decision – there’s no point me telling them they might have it until they’re over the age of 18 because then they’re going to hold on to it for years, thinking, “Oh my god, I might be like my mum but I’ve got to wait ten years before I can find out.”

So I think it will only be after they turn 18 that I say, “Right, why don’t you go and get yourselves checked? If you want to know if you’ve got it as well, you can find out. It’s worth doing because it means that you might, you know, if you want to have children when you’re older, then you’ll be able to stop the gene. And it’s also worth knowing that you haven’t got it.” So, I kind of, I will definitely make it a normal thing, not something we’re scared of, just part of life, and then it’s up to them when they’re 18.

In Jade’s experience, receiving support after pre-symptomatic genetic testing is “off your own back”. She questions whether people with a positive result could be referred to a dedicated counsellor.

They have sent me emails and sort of kept in touch early on and said, “You can always email me with anything or any questions you have or anything you need.” I know where to find them and I know where they are. But I guess I might have benefited back at the time with them giving me, I don’t know, if there were some specific counsellors for this type of thing to talk to you if you know you have a positive gene, to just sort of bring you back a bit. You’re reeling when you first find out.

If there was, you know, somebody who could do that for people, and perhaps that could be mandatory, that you know, that you go and have a chat with somebody if you find out that you’ve got the gene, that would probably be quite beneficial. Like I say, they don’t just give you your result and cut you loose; they do give you the information you need and it is there. But you have to kind of get off your own back and find it, and I think after all the hoops you have to jump through just to get the test, it might be worth making you jump through one more, just for your mental wellbeing and your mental health.