Kelly

Kelly is 30 and is married. She works full time as a Service Administrator. Ethnicity: White British

Kelly’s family has been affected by MND and FTD, caused by the C9orf72 gene variant. Kelly decided to seek pre-symptomatic genetic testing to make an informed choice on having children. After facing several challenges, she has received a negative result.

Kelly found out about MND in her family when her paternal aunt was diagnosed. Shortly afterwards, it came to light that her grandma, who had been living with what they thought was Parkinson’s disease, actually had frontotemporal dementia (FTD). It was determined through genetic testing that their illnesses were caused by the C9orf72 gene variant. Kelly and her mum started to do some research online and learnt more about the disease. Looking back, Kelly feels she might have benefited from talking to a healthcare professional sooner. Reading information online was a lot to take in and highlighted the negative aspects, rather than examples of families living well and achieving their goals.

Kelly initially considered genetic testing soon after finding out about the C9orf72 gene variant; she wanted to give her partner the chance to walk awa before they got married. However, her family discouraged her, and she put it out of her mind. Several months later, Kelly’s cousin Jade started the testing process. She told Kelly that there might be reproductive options she could consider if she wanted to start a family. Kelly decided that she wanted to find out her genetic status in order to make an informed decision around having children. She did not want her future children to live with knowing that they might have inherited the gene variant, or be affected themselves.

Kelly went to her GP and was referred for genetic counselling. She found this helpful in providing clear information that was easy to understand. Kelly is not in contact with her father, but because he has not been tested, she was told that she had to wait to take the test to give him time to make a decision; if she tested positive, that would mean he also carried the gene variant. This was frustrating for Kelly, who felt penalise. As an adult, she believes that she should have been able to make her own decision. Over this time, she and her husband put everything on hold; they stopped looking at houses and talking about starting a family. Kelly continued to have regular phone calls with her counsellor. She helped her to put plans in place for both possible outcomes, which was reassuring.

Eventually, Kelly was able to go ahead with testing, though the pandemic brought further delays. Just before receiving her results, the emotional toll of what she was going through hit her; before that, she had been focusing on fighting to take the test. On receiving her results, Kelly’s counsellor told her that she had not inherited the C9orf72 gene variant. Kelly was shell shocke; she had prepared herself for a positive result. She describes it as a surreal experience, where she felt a weight lifting off of her. Kelly was pleased to be able to share her results with her family and colleagues who had supported her over the process. She encourages others to talk to those around them.

Following her test results, Kelly feels that MND will still be a part of her life; other relatives have yet to be tested, and her cousin Jade has been told she does carry the gene variant. Kelly feels her experiences have changed her viewpoint on a lot of things. She no longer takes her health for granted and tries to look after her body. She is grateful that she and her husband can go ahead with their plans to start a family without additional testing. She focuses on the positive things she can do. She wants to help others, whether through donating to charity, taking part in research, or being there to support her family.

Although she doesn’t carry the C9orf72 gene variant, Kelly wants to contribute to research to help others, including members of her family.

Age at interview 30

Gender Female

I’m still down as a control sample for anyone in my family who may need me to be, but yeah, as far as I’m concerned, my test may be negative, but my future is still going to be centred very much around motor neurone just for my other family members who are going through testing or my cousin who did test positive during the COVID lockdown as well.
 
I think she thinks I want to just move on and forget about it, I was like, “No, if you need anything, spinal fluid, anything”, even with this study, I said “Just pass them my number… if I can help you I will”.
 
I know how horrible the whole testing process is, and then to come out of that, I was really lucky to come out of it with a negative test result but not everyone is that lucky. And if something that they can test on me can help one other person, whether it be alive as we are in the present or 20 years in the future, if that can help at least one person then all of that was kind of… it hasn’t just come out of it and I’ve got a piece of paper to say I haven’t got a gene, I’ve helped contribute to a future study that could potentially help someone.

 

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Kelly thinks it’s important that genetic counsellors avoid “medical jargon” when talking to people, and don’t make them doubt their decisions on pre-symptomatic genetic testing.

Age at interview 30

Gender Female

Don’t expect them to understand all the medical jargon. If someone, like my counsellor did… try and do it as though you’re speaking to them never having spoken to a doctor, they’ve never spoken to a doctor or done any research. Speak to people in layman’s terms, and appreciate the fact that if they’re there, they’ve made the decision that they want to do something about this and start the process. Don’t make them doubt themselves because they are there for whatever reason is good enough for them to be there, that’s their good reason, and I don’t think making them second guess themselves on whether they’re making a right decision… they’re there for them, nobody else.

 

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Kelly appreciated her cousin, Jade, talking to her about genetic testing and options for starting a family, which allowed her to make an “informed decision”.

Age at interview 30

Gender Female

A lot of it was my cousin. Because she had been to see her gene counsellor before I’d been referred from my doctor, she was actually quite good. She, she rang me more to say, “Look, I’m ringing to give you an option, you know, I’m going to give you an option so you can make an informed decision”, and she basically told me a brief insight to what her counsellor had told her. Like she knew at the time she couldn’t be tested because she was pregnant with her second child, so hers was slightly delayed. But she, she kind of made me feel more at ease about everything, you know, that it isn’t a death sentence if you get it done, you know, there are, there are ways that you can still have a life and, you know, it’s not going to get you immediately if you do have it.

Then she kind of said to me, she went, “Look, just remember I can’t make, I can’t go back in time and make a decision now in regard to my children.” She already had one and she was pregnant with the other. She went, “Whereas, you know, if you do have this gene you can, you can change the outcome of your children’s lives”, which I hadn’t really thought about at the time until she told me she, how much guilt she was having because she, she didn’t give her children a chance to be without it. But obviously, you know, we didn’t know about it at the time.

She knew I, me and my husband were looking at potentially starting a family, so she, she kind of done the right thing and allowed me to make a more informed decision, whereas, which she didn’t have, which I think was probably a really, really good thing she did do.

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Looking back, Kelly feels going to a support group could have been helpful, as she might have benefitted from sharing her feelings with people who could understand and had no expectations of her.

Age at interview 30

Gender Female

It was recommended to me by my counsellors. They wanted me to go to one before they would test me, but I’m not… I’d happily sit and talk one on one with someone, which I had with my counsellor which was great, but I didn’t really want to be sat in a room full of people I don’t know. And the way I compared it to, which was probably really, really wrong, was how you see in American films where they have the AA meetings and they go, “Hi, I’m xxx and I’m an alcoholic”, that’s kind of how I saw it and I was just like, “I’m not going to that, there’s no way I’m going in and just doing that”, so I really just said, “No”.
 
Did you have any particular concerns, or was there anything you think could have been beneficial about going to a support group?
 
To be honest, I reckon looking back that potentially going to a group support thing would’ve been a lot more beneficial because you’re in a room, just you with people, they’ve got no expectations from you, they don’t know you, you can sit there and you can ask these questions you probably don’t want to ask in front of your husband or your mum and you can let those feelings out in a healthy environment. Where a lot of the time I wouldn’t say anything to [husband] about how I was feeling because I didn’t want to burden him.
 
Maybe if I had gone to one or two of those meetings, I’m venting to people who are going through it or have been through it and they understand and they can answer those questions. So, I think looking back I probably could’ve gone, or looked into it some more than I did. It probably would’ve helped me a hell of a lot more.

 

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Kelly and her husband have always talked about adoption and fostering. They would still consider these options since finding out she does not carry the C9orf72 gene variant.

Age at interview 30

Gender Female

Me and my husband are quite fortunate, his family do a lot with fostering and adoption, so that was always something we’ve always spoken about. We, we’d always be open to fostering children or looking at adoption.

Then with the IVF side of it, to be honest, I had thought about it and you know, if it came to it I was, we were both willing to go through the IVF route. You know even if we only got the one chance on it, you know, just one chance, we’d have our child and then, you know, there’s still other doors available to us if we wanted to adopt or, you know, anything in the future. We, we were quite open to working with whatever route kind of would be available to us.

We are just extremely lucky that we get to go ahead with our future the way we wanted to. We, we will still be looking at, you know, adopting or fostering in the future as well as having our own kids. 

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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.

Age at interview 30

Gender Female

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

Age at interview 30

Gender Female

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-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.

 

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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.

Age at interview 30

Gender Female

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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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.

Age at interview 30

Gender Female

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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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.

Age at interview 30

Gender Female

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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Kelly and her counsellor put a plan in place for if she received a positive pre-symptomatic genetic test result. She found it helpful to know that whatever the outcome, she could move forward with her goals.

Age at interview 30

Gender Female

So, the plan was if it came back positive… they’d ask if I can start having regular tests. She [genetic counsellor] said it would be a test just to see how my cognitive skills are and my writing and things like that. She said, “We’d also send you for a scan on your brain”, she went, “It would be more so you can see every time you have a visit and whatever scans they do, you can see for your own peace of mind that there are no changes if there are no changes and you’re not just being fobbed off”. So then said she was also going to refer us over to the IVF clinic in [city] to start with the IVF process of harvesting eggs and things like that if we wanted to go that route, which was really good.
 
I think that kind of helped me because I think knowing that you’ve got… the way I explained it to people was I was at a crossroads and I had two choices, two roads and they were both on a red light. And the road I was choosing was not down to me. So, it was easier to focus on the steps on each route that I could work to as and when one of them was made, the decision was made.
 
So, I think for me, because I am a bit of a planner, I like my lists and I like knowing what I’m doing and things like that, to put that plan of action in place, I think it kind of helped. Because if I had come back and I’d had a positive result, I was going to be in no frame of mind to sit there on that appointment or at least any time in the near future after being tested positive, I wasn’t going to be able to get my head straight enough to think about what I needed to do. So having that plan in place for that worst case scenario was I think really, really good, because I knew there was something going to happen no matter what road I was going down.

 

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Over the genetic counselling process, Kelly had focused on fighting to have the pre-symptomatic genetic test. Whilst she was waiting for her results, the possibility that she could be affected hit her.

Age at interview 30

Gender Female

And it was the end of August I think it was when I’d had the blood test done, and it all just kind of hit me at once and I – because I’d been telling everyone, “I’m fine, I’m fine, yeah, I really need to know”. Yes, I did need to know but I don’t think I… I think a lot of it was because I’d channelled all my emotions into fighting to get my test done and being angry at my dad for not being tested himself, which put me in the position where I had, I was having to go for the test – I mean I would’ve had it done regardless, but the fact that he kind of didn’t take that first step as a parent, I had no more ways to channel my emotions. So, I couldn’t be angry at, at my counsellors and the NHS because they wouldn’t let me get tested, I couldn’t be angry at him anymore.

It all did, it hit me one weekend and I literally just had about four breakdowns, and I did question if it was the right decision. You know, “Do I still go ahead with this? Is this what I want to do?” But ultimately it was, the test was never being done for me, it was being done so I could have children and know they would never have to go through what I had been through for the last 12 months. But yeah, it was hard.

I think I spent all of the Sunday crying. I broke down on my mum, I broke down on my mother-law, then I broke down on my husband. I went into work the next day and my eyes were that swollen, my boss was like, “I feel like I should be sending you home”, and I was like…, “Honestly, I’m fine, being here is helping me”, which it was. I was busy in work with my customers, so I wasn’t left to my own devices to think. But after I’d had that breakdown, I knew I needed it, I knew it was coming and honestly, I felt fine until the results day.

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Because her father didn’t want to know his genetic status, Kelly had to “fight” to take the pre-symptomatic test. She felt she wasn’t being allowed to make decisions on her own health.

Age at interview 30

Gender Female

The counsellors are great, but I did feel a bit – I can’t think of the word to describe it – I felt like I was being guided as a child, so to speak. I went in there as a 29-year-old woman, I went for all these appointments, I’d spoken to all these people so many times and they seemed, it felt to me they were more bothered about my dad and how he was going to react if I tested positive because it meant he would be positive.
 
There were times where I was feeling like I wanted to just scream at them and say, “Well that’s his fault, he didn’t get tested, I’m stood in front of you as an adult asking for a blood test so I can make an informed decision for my children”, and I did have to fight and there were a lot of tears, and I think at one point I even begged down the phone for a test. And when my cousin told me that she was getting tested pretty quickly on a turnaround because her dad was dead, I think the exact words I used to my counsellor were, “I feel like I’m being penalised because my dad’s alive”, which I did feel like because I wasn’t being allowed to make decisions about my own health. It felt like everyone was just focusing on him, which I felt was quite bad because, “I’m here, I’m your patient”, and if he as an adult is making a decision that he doesn’t want it then that shouldn’t impact my decisions.

 

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Because her dad did not want to know if he carried the C9orf72 gene variant, Kelly was asked to wait to have the pre-symptomatic genetic test. She felt “penalised”, and “put everything on hold”.

Age at interview 30

Gender Female

In that meeting it was brilliant in terms of the information that we got. I suppose when you go into it, you go in with a bit of a false sense of security of it could be treated or that there’s ways to manage things and things like that, but you don’t understand the full extent of how much research has gone into it and how much is still ongoing.
 
So obviously the appointment I felt was quite short, when you’re going in basically blind; you’ve only got 45 minutes. So, my first appointment I went with my mum too and we found out more about the gene that I was getting tested for and also if me and my husband wanted to have children, the avenues we had available to us at the time, which was really good, how the testing process would go ahead and things like that. Then I had my second appointment in January 2020, and again with mine it was basically fighting for my own rights. Because my father wouldn’t get tested…
 
My battle was the frustration, the fact that I don’t have contact with a member of my family and because of that and because he is alive, I did honestly feel very penalised, that as a 30 year old – well, 29 year old at the time – I couldn’t technically make my own choices, and felt like I was having to wait for someone else to make a decision before I was allowed to decide how my health could be impacted.
 
Me and my husband basically put everything on hold, we stopped looking at houses, we stopped talking about children and things like that. My main theory was it was scary. I suppose from being young and growing up, you have a set kind of thing in your mind about how your future’s going to be and when someone tells you there’s a very high chance at this moment in time that your life isn’t going to go the way you want, you’ve kind of got to take a step back.

 

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Kelly would like to see more positive information on living with MND, and specific to inherited forms, so people know that their life is not over, and they can still achieve their goals.

Age at interview 30

Gender Female

I think the main thing that I want… when I was Googling it at the time, and I know it sounds really daft, but if I just clicked on a website and the first thing popped up was, “Just take a minute”, you know, “Before you click anything else just take this and know you are okay”. And then it then could explain in layman’s terms what it is. And instead of saying, “These are all the symptoms you’re going to potentially go through”, have, “Everyone’s symptoms vary, these are some of the things that you could go through, and these are things that can be caused from…”.
 
For example, you can have issues where you can’t breathe as simply as anyone else in the room could because all the organs are starting to shut themselves down and suffer. They can explain, “Yeah, you are going to struggle to breathe but there are things in place that can help you. You can have an oxygen tank next to you for those moments when you need it, this is what you need” you know.
 
From my perspective, one of my first things was, “Oh my god, can I have kids?” and instead of just going through in technical jargon that no-one could understand, just saying, “There’s a hundred different option for you. If you are hell-bent that you want to carry your own child, you can do it. You can still do that, you can still have your dream and there are other options, but if that’s what you want to do, it is possible.”
 
I think a lot of it needs to be on “Your dreams aren’t over”, if you know what I mean. Your life isn’t over, you can still achieve what you want to do with your life, you haven’t in the sense as I saw it, you’ve not got a death sentence.

 

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