Kirsty

Age at interview: 35

Brief Outline:

Kirsty is 35 and works full time as an IT manager. Ethnicity: White British.

Kirsty’s grandmother and two uncles have been affected by MND and FTD. After having pre-symptomatic genetic testing, her mum was told that she does not carry the C9orf72 gene variant. Kirsty feels grateful that her immediate family will not be affected.

More about me...

When Kirsty was young, her grandmother was diagnosed with MND. She doesn’t remember much from this time, and had no idea that it could be hereditary. More recently, Kirsty’s uncle, John, developed symptoms. Because of his mum’s illness, he had genetic testing which showed that he had the C9orf72 genetic variant. Since his diagnosis, another of Kirsty’s uncles has been diagnosed with frontotemporal dementia (FTD), which the family have learnt is linked to this gene. John passed away in April 2020, and another of Kirsty’s uncles has received a positive pre-symptomatic genetic test.

On finding out about the C9orf72 gene variant in the family, Kirsty had an immediate concern for her mum. Although this was much more prominent than any fears for herself, over time she began to consider what it could mean for her, particularly with regards to her hopes to one day start a family. Although Kirsty tried to focus on the present, seeing how her uncles were affected by MND and FTD was difficult and made it hard not to think about the future. Kirsty was grateful for the support of her sister, who she could talk to about how she was feeling.

Kirsty’s mum, Maggie, initially decided not to have pre-symptomatic genetic testing, a decision Kirsty respected. Kirsty herself had a gut feeling that she would be interested in learning more about the possibility of being tested, as she sees herself as someone who likes to be mentally prepared. Whilst she did have some concerns around how she would deal with a positive result, generally she thought that there could be a lot to gain and little to lose, as she describes a sense of fearing the worst anyway. However, she believed strongly that it would not be fair to pursue testing; her result, if positive, would mean that Maggie also carried the gene variant. Kirsty did not look further into testing at this time.

Some months later, Maggie changed her mind about genetic testing. Through her mum’s counselling process, Kirsty was interested to learn about the reproductive options which could prevent her future children inheriting the genetic variant linked to inherited MND. Maggie had the test and after what felt like a long wait, called Kirsty to tell her that it was good news. Kirsty was shocked; given that three of her uncles had tested positive, she couldn’t imagine that her mum would not. She finds it hard to describe the relief she felt, but there was a sense of feeling lucky, and grateful that this was the “end of the road” for her and her immediate family. Nonetheless, it took some time to sink in, and Kirsty struggled with knowing what to do with the fears and emotions that had accompanied her since finding out about the gene variant. There was a feeling of “now what?” 

Kirsty’s experiences have given her a new appreciation for her health, and she has learnt that she is more resilient than she thought she would be. She is grateful that she will not have to consider options around genetic testing when the time comes that she wants to start a family of her own. Nonetheless, she emphasises that MND is still very much in the wider family. She wants to be there to support her relatives as much as possible.  

Kirsty encourages others in a similar situation to remember that there is no right or wrong way to feel, and that it is okay to feel overwhelmed at times. She emphasises finding someone who you can talk to honestly about how you are feeling.

Finding out that the C9orf72 gene variant could cause FTD was hard to cope with. Kirsty felt more frightened of getting FTD, but was concerned about her mum, Maggie, developing MND.

It just sort of, it was just this added extra. It seemed like we already had the possibility of MND and now there’s also this FTD and then there’s the possibility that they can both exist at the same time, and you just think, “Oh my god”. Like how are you supposed to cope with that kind of prospect?
 
I think maybe because with my uncle who has FTD, he is younger than my mum and I don’t know whether I thought, “Well if it was going to have happened, maybe it would have happened already.” These are all just, you know, I guess it’s just your brain trying to find reason or logic in things but none of it’s actually backed up by any scientific knowledge or information. But I suppose there’s only a certain amount of potential threats that your brain can actually handle at any one point, it’s hard to… so I don’t know whether you almost pick and choose the thing that you’re going to be, or you naturally focus your worry on one thing than on another.
 
So I don’t know why really, but if I think about it, I think for my mum it was more of a worry about MND because for some reason I had just thought that that’s what it will be for her, and I have no idea why that is the case.
 
Yeah, but I think for myself I was far more frightened about FTD, and maybe it’s just because I read this statistic that it can happen much earlier that I just - and MND seems to set in much later - that it was just a sort of prioritising in a way the order of which things to worry and in what order to worry about them in.

 

For Kirsty, who didn’t know if her mum carried the C9orf72 genetic variant or not, understanding her own risk was more complicated.

So yeah, I didn’t really have a lot of factual information. It was just there is this gene and we knew that it came from my grandmother so in that sense… well I knew it was a 50/50 chance of having it or not, and this was always something I found really confusing was when they talked about the percentage chances of, you know. So, it was a 25% chance for me, but that didn’t necessarily make sense because I thought, “Well mum either has it or she doesn’t”, so therefore it seemed more like it was 50/50 for me as well if that makes any sense. But I mean maths is really not my strong suit. But those percentages never really made any sense to me, because it seemed based on whether you found out or didn’t find out, and I was like, “Well, whether you find out or not, the chance of you having it is still the same”.
 
Then, but I think because there’s three uncles who have all tested positive, I think we were all getting to the stage where we were starting to think, “It can’t be 50/50, it seems like it’s a much higher chance than that”, like somehow - and this is where, no scientific reasoning for this - I think in my head I started to just think of it as an extra strong gene, that it was somehow, there was a higher chance of getting it somehow because it was extra powerful or something [laughs]. Which is I think why we were all so sure that my mum would have it as well, because once you have three people, three out of six with it, you start to think, “Hmm okay”. It didn’t seem likely that she wouldn’t.

 

On finding out about inherited MND in her family, Kirsty’s immediate fear was losing her mum. She found it hard to think of her becoming ill and suffering.

I think the thing that just was always at the forefront of my mind was just, “Oh my god, is, you know, is my mum, is my mum going to get sick?” I think that was just, that was always the biggest fear. Then, you know it’s the same thing as I suppose when you start to imagine, you know, like losing your parents and I think it’s something that everybody probably does at some point, I think it’s sort of a way of I guess, I guess it’s your brain’s way of sort of preparing yourself for something that is inevitable.

And, but then, you know, that’s, it’s always such a sort of distant thing and then this was suddenly making it potentially so much more imminent and more immediate and it was also the fact that I was thinking, I guess to a certain extent that’s it not, it just wasn’t fair. I know that sounds like it seems a bit sort of childish in a way to say it and, you know, life isn’t fair, but it’s just the fact that my mum had to care for her mum, and that would’ve been so difficult for her, and now her brother being sick, then the idea that she then might be sick as well, you just think like, no, that’s just, where’s the sort of justice in that kind of thing. And just…

I think there was always, right up until the point where we learned that she didn’t have it, that was always the thing that I think I was probably wrestling with a lot of the time, was just this idea of my mum being ill and my mum suffering and then also like, and you know the possibility, and like, and then losing her. Not that you’re ever ready to lose your parents but you know, losing her way, way, way, way sooner than you ever thought you would.

It became, I think that was more, even more kind of real after I visited John the last time because - I didn’t sort of see him for quite a long period of time, you know, I sort of, I saw him very soon after he was diagnosed and there was very, there were very few signs of anything, and then I, we saw him again and, you know, he was struggling with walking a little bit but he was still was walking and talking and you know. And he was very much still, he was still him, he was still John. Then when I saw him for the last time before he died it was quite shocking just how much he had deteriorated.

Kirsty has valued being able to share her fears and concerns around inherited MND with her sister. She emphasises having “somebody that you can just be scared with”.

I feel like there’s no right or wrong way to feel. And to find people or a person, you need to be able to talk to somebody, and if that’s not within your family who are immediately affected, you know… it’s not something that you can just brave through, I think. As practical as you might be, or as you can be, you try to be really positive about things, but I think there will definitely be, I’m sure everybody will have a moment where they will feel overwhelmed by it, by the enormity of it and that’s completely normal and completely okay.
 
I think it’s important that you have somebody that you can just be scared with, if that makes sense, that you can just be really honest about how you’re feeling, because I think, especially when you’re the person, it’s actually happening to your family member and not to you, I think there’s a sense that you feel you need to be strong because it’s not happening to you, it’s happening to them.
 
So, I certainly felt like I always needed to be strong for my mum, around my mum. But I had my boyfriend, I had my sister who I could then say, “I’m not feeling strong at all, I’m actually, I’m terrified” and if I hadn’t had that then those sorts of emotions probably would’ve imploded.
 

 

Kirsty had an instinct that she would want to find out if she carried the C9orf72 gene variant, yet she did not consider making a decision whilst her mum, Maggie, did not want to know.

Yeah. I think my, without even having to think about it too much, I think my sort of gut instinct was, you know, I would want to know. And that, without any sort of real… I don’t really know, I didn’t really know why at that point, I think it’s just part of like my character; I like to know what I’m dealing with, I like to have all the information, and I suppose to a certain extent I like to sort of know what the worst-case scenario is so I can be mentally prepared for it.

I think then when I actually sort of thought in more detail about, you know, and I tried to sort of imagine what it would actually be like to have that information and then to live with the information, potentially to live with the knowledge that you do have it. You know, it wasn’t sort of that I said, “I would want to know”, and that was it, my decision was made, it was just more, “I think that would be my decision”, but, you know, I would, I knew that I would always have to really, really think about it, and it wouldn’t have been a decision that I would’ve taken lightly, and I’m sure that, you know, from what I know and the discussions that my mum had, I think, you know, they make sure that you do think about it which is, which is really good.

But while my mum was sort of adamant that she didn’t want to know, I just, my first thought was just that it just wouldn’t be fair. And there’s no way that I could’ve just gone and gotten tested, found out that I had it and not told her, like that would just, that was a complete, like that was just not a possibility, not even an option for me. So essentially me going and getting tested ahead of my mum was taking that decision away from her and that just, that just didn’t seem fair at all.

I don’t know whether if, you know, if she had continued to not want to know, whether that maybe then would have caused friction in the long term, potentially. But it’s not something that we had to sort of, that we had to deal with because, you know, she did, she decided that she did want to know.

But I know like my auntie for example, she definitely doesn’t want to know, so I can imagine that potentially for her children, that’s something that they will have to deal with. Yeah, and it’s just, it’s difficult. And I think my sister said that she was kind of, said that she wouldn’t want to know but yeah, I guess everybody, I think everybody is different and everybody sort of, you know, can change their mind as well.

Kirsty found out about reproductive options to prevent inherited MND in future generations through her mum’s genetic counselling. Whilst this was good to know, it was a lot to take in.

Then when my mum went for her, she had her first genetic counselling session before being tested. That was actually, that was quite helpful, that was really helpful not just, I think it was for her, but it was also for me as well because they talked about me and about my sister and about, you know, having children and testing possibilities and all that sort of stuff. And my mum, she you know, she relayed the contents of like the whole conversation to me.

You know, so it came, this lady sort of said that if, for example, if my mum tested positive for the gene and then if I were to fall pregnant before I knew if I had it, then there would be the option for like fast tracking the testing process to find out. And that there was, there are also then possibilities to do like embryonic testing and then potentially also like to do IVF as well, as like a different route to having children.

So it was, on the one hand it was, it was good to know that there were all of these sort of options out there so that, you know, if it turned out that my mum had the gene and I had the gene that it wasn’t that having children was sort of off the cards. At the same time, it was all quite heavy-duty stuff to try and get your head around. And yeah, it’s quite, it’s just, it is just quite a lot to sort of, to take on.

For Kirsty, MND seemed to have a bigger presence whilst she was waiting for her mum’s pre-symptomatic genetic testing results. It was “more threatening somehow”.

So, she then started undergoing the process of testing. And that was, it seemed to take a really long time, sort of from the decision to do it to having those initial - what do they call them? Like genetic counselling sessions. And then actually having the test and sending the results off.

You know, it actually wasn’t really that long but it sort of, it felt like a really long time, and it was sort of… And I think from, like even though up until that point we all knew that there was a risk or the potential that she had it, as soon as she had the test somehow that just made it even more, I don’t know, more threatening somehow. Like it was just, it was a much sort of bigger presence I suppose in our lives while we were waiting for the news.

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”.

 

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]

 

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.

 

For Kirsty, it didn’t feel fair to go to her mum with her worries around inherited MND. When she was “freaking out”, she reached out to her sister for support.

It was, I guess the difficult thing as well was that normally the relationship I have with my mum - I’m really lucky - is that if there’s something in my life that’s upsetting me or distressing me or worrying me then I go to her and she is somebody who can counsel and comfort. But in this case the thing that was upsetting was the possibility of her becoming sick and I’m like, “Well she’s the person who would be sick”. So it didn’t, I was sort of, it didn’t seem right or fair to be going to her with all of those fears, kind of thing.
 
And this is where me and my sister have in some ways grown a lot closer through this, because we were in exactly the same position. And so if I was, as I say, going down the rabbit hole, then I would reach out to her, and I would call her and I would just be like, “I’m freaking out”. If, because when you start imagining it and you start thinking about the future and you start making those leaps in your head, there has to come a point where you put a stop to it because it doesn’t help. And to a certain extent you have to, well we all felt, or I felt that we had to try and park it, because until you have the information you’re crossing, my mum always says, “You’re crossing bridges before you get to them that might not even exist”.
 
But every now and again I just couldn’t help it, and so that was when I would then reach out to my sister. With her I could say, you know, “If it happens, we’ll be okay won’t we?” and then she would say, “Yes, we will and we will figure it out”, and it’s something my mum always said to me as well that, “You won’t be on your own”, like, “It’s not something that you will have to handle by yourself”.

 

Kirsty’s uncle was living with inherited MND when she met her partner, so he’s been “along for the ride”. She kept him informed as she learnt about reproductive options.

I’m trying to think. I think, yeah, so we were literally only starting to, we’d just started going out around the time that I went to go and visit John for the last time. And so I told him everything along, because I was, I told him I was going to go and visit him and so then it naturally... I explained, “I’m going to go visit him and he’s ill and this is what he has”. And so I gave him the in a nutshell version very early on.
 
And then I think it was over the summer that my mum had her genetic counselling, and I was actually at home, I went home for five weeks over the summer and worked from there. And so we would, I’d be talking to my boyfriend every day and so I relayed that conversation that my mum had had with the counsellor. So yeah, he’s been along for the ride.
 
Certainly, like all of the discussions about, when the information came up about the different options for children, so at that stage I had been, I’d only been with my boyfriend a few months - I can’t remember exactly, maybe six months or something.
 
So that was information that I shared with him, but that’s also quite a big thing to be talking about quite early on in a relationship when kids are a maybe kind of thing down the road, so… But he was really, really great about it and didn’t, he wasn’t overly alarmed or freaked out by the prospect of those sort of discussions, yeah.