Helen

Helen is 45 and works as a Personal Assistant. She is married and has two children, who are aged 13 and 14. Ethnicity: White British.

Helen found out about MND in the family after her mother-law was diagnosed. Although one of her main concerns is how to tell her children about the disease, she is hopeful that the outlook for future generations will be different to what it is today.

When Helen’s mother-law was diagnosed with MND, there was some discussion about it being an inherited form; her father had died of the disease, and one of his parents also had suspected symptoms at the end of life. This was confirmed through a genetic test, which indicated that Helen’s husband, Richard, and his brother had a 50% chance of having inherited the same genetic variant. Over this time, their focus was on supporting the family through the practical and emotional challenges they faced. Helen’s mother-law died in 2014, two years after her diagnosis.

Although MND was in the back of our mind, Helen and Richard started to look into it further after Helen got a job working as a personal assistant in a neurology department. After finding out more about the disease, they decided that they wanted to know which gene variant was in the family. They wrote to the consultant who had treated Helen’s mother-law, who confirmed that it was the C9orf72 gene. This was almost like a relie for Helen, as she knew from her colleagues that there was a lot of research on this particular gene variant, and a clinical trial beginning for people affected.

Since finding out about the family history of MND, Richard has been aware of possible symptoms of the disease. At one point, he sought advice from a consultant neurologist, who reassured him that he didn’t have MND. At this point, they were also told about pre-symptomatic genetic testing. Helen and Richard discussed this, and he decided not to have the test. Helen supports and respects this decision; as there are currently no long-term treatments available, she believes that it’s not worth knowin. Nonetheless, a part of her feels it would be amazin to find out he didn’t have the gene variant, and not have to worry about issues such as how to tell their children. Helen feels that they would re-consider genetic testing if a treatment was developed to prevent or cure MND.

Helen and Richard have yet to tell their children about inherited MND and what that could mean for them. Although she feels it is important to share this information, Helen is aware that they may have upsetting memories of their grandmother with the disease, and doesn’t want them to worry that the same could happen to them. However, Helen feels that they are getting to an age where they would be able to handle knowing- both about the disease in the family and the research that is happening, which she thinks is also important to share. Helen highlights that as with adults, children might also have different approaches to how they want to talk about the disease.

Although Helen and Richard try not to worry about MND, it is always ther, particularly around anniversaries or when they see something related to the disease on the television. Helen feels that their experiences have changed their views on life; as well as encouraging them to deal with practical things like organising their finances. They emphasise making the most of life through doing things like seeing friends or going on family holidays as much as possible. Helen and Richard try to ensure that their children have good memories. Although Helen knows that Richard may never develop MND, she feels that living by this philosophy is not a bad way to liv. Helen is positive about the advances in research around MND and hopes that one day it will be something that other families don’t have to worry about.

Helen points out that the best way to talk to one child about inherited MND wouldn’t necessarily work for another. She says, “you know your kids best”.

Age at interview 45

Gender Female

Because they’re so different, I think what would work for one, wouldn’t necessarily work another and I think you know your own family and kids best and you know at what level they could, of information they could cope with or the way of say-… And I think, yeah, I think for us, it will just be, we’ll do it our own way. I don’t know if reading guidelines about how to tell the kids would necessarily help me, because it would probably just make me feel like I was doing it the wrong way, anyway, rather than doing it my own way. You know, it’s not always helpful, I find, having suggested guidelines because sometimes I think that can make people feel like they should be doing something in a certain way, which is maybe against the way that they instinctively feel is the best way to do something. So it’s not always helpful.

I think what was more helpful is just knowing there’s somewhere that people can go to get more information when they’ve heard, you know, when they know, that is more useful. So it’s more useful, maybe, to like have the conversation with the kids whatever way you think is best and… but then know that there’s somewhere you can direct them to when they’re older or ready to take on more information, you know that there’s some information out there and places you can direct them to where they can get more information and, you know, start to think about their own questions and stuff.

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Although she considered volunteering for the MND Association, Helen decided it would be “a bit too much”; she didn’t want her whole life to revolve around MND.

Age at interview 45

Gender Female

(Text edited by Helen)

I’d applied to be, I can’t remember what they were called. Working for the, as a volunteer for the Motor Neurone Disease Association as an Association Visitor, where you would actually go and visit people with Motor Neurone Disease in their homes and just provide, you know, provide information about what the Association could do to help them and stuff like that.

So I’d sort of gone for an interview to do that and been accepted. But actually once I’d done the training I was starting to think, “Mm, maybe that’s actually a little bit full on.” You know, it was something I thought maybe I wanted to do in the back of my mind, but as it was sort of, as I started getting more information about our particular gene and working where I was working, I started to think maybe it was a bit too much for us to do something like that: it would maybe just be a bit too upsetting. And I didn’t want to turn my whole life to, my whole life to be about motor neurone disease – I’d end up pretty miserable, I think.

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Helen would support her children considering options like Pre-implantation Genetic Testing. However, she points out that people’s beliefs can complicate such decisions.

Age at interview 45

Gender Female

It wouldn’t bother me at all, in any way, for them to consider pre-implantation genetic testing. But it’s not an easy decision for everyone, depending on how they’ve been brought up or what they believe in. Our family has a Catholic background and the Catholic Church has lots of ideas on this sort of thing, which might give a few added complications to them depending on what they believe when they’re older.

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Helen worries about her children having upsetting memories of their grandmother with MND. She would want them to know that if they developed symptoms, the outlook would be different.

Age at interview 45

Gender Female

(Text edited by Helen)

I just wouldn’t want them to be like too worried, too anxious about it, you know, to think that… And I, and actually, I think when we get to a point of really spelling it out, you know, what I’d want them to know is that the future is optimistic and it’s not… even if they do have this gene, it’s not, when they get to like that age, it’s not all going to be doom and gloom, which it feels like at the moment. And, my other worry is because they’ve seen what it was like when my mother-law was ill, although they were very young like six years ago. So, my daughter would have been seven or eight and my son would have been like six or seven. They will have a memory of that, and it was pretty awful.

So, I think we’re, you know, we’re getting to a point of maybe talking to them about it as they’re getting a bit older and can probably handle that information along with the, you know, the knowledge now that there are trials going ahead and the outlook for them is totally, even the outlook for like my husband is probably totally different to what it was, you know.

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Helen has prepared a pack of information about inherited MND for her sister to give to the children if something were to happen to her and her husband.

Age at interview 45

Gender Female

(Text edited by Helen)

I’ve talked to my brother and sister about it, so they know about it, because I’ve talked to them about the kids. And I’ve got a sort of pack of information that I’ve put together with like a family history. Just stuff that I’d saved, like the letter that we got with the details of the gene, stuff like that. And I’ve got that in an envelope that my sister knows about. If anything happened to me or Rich, you know, car crash or something horrific like that, then my sister knows about this envelope for her to pass onto the kids when the time is right.

And she knows about that, so it’s, you know, things like that I have sort of thought of probably in a way that… You know, I’m the one who’s been like documenting the family history. Even though it’s not my family, it’s like my husband’s family, I don’t think it would cross his mind to get all that down on paper to pass on to the kids. Whereas that’s more my concern is making sure they’ve got all this information so if we weren’t around anymore, they’ve got all that information, you know, if there was no family around that they could ask. Because obviously they don’t have any cousins on my husband’s side of the family and stuff like that.

So it’s almost like I’ve put the responsibility of that onto my family, rather than my husband’s family, to tell our kids, you know, because they don’t want to talk about it and maybe that’s easier because it’s sometimes a bit too raw, isn’t it, when it’s your own family. Whereas my sister could happily, well easily, more easily tell my kids about the whole family background and history and what happened, because she’s that one step removed from it and doesn’t have the sort of added pressure of it being like a genetic thing in her family.

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Although she knew that her mother-law had an inherited form of MND, it wasn’t until Helen made a joke about the resemblance between her son and his grandma that it “hit home”.

Age at interview 45

Gender Female

(Text edited by Helen)

At one point my parents-law had had this testing done and mentioned that Rich’s mum had a gene, they’d identified a gene, so they knew it was genetic and it’s likely that her father had the same genetic mutation, as he also died of motor neurone disease, and her father’s mum or dad. I’m not sure which one it was. It was not really discussed, you know… It was too upsetting. She was very, very ill at that point and Rich’s dad was really upset so it’s not something we even talked about. It was just sort of like, “Oh, okay”, and we sort of parked it in the back of our brains to revisit at another time as she obviously didn’t really want, I mean, she couldn’t really speak, which obviously made it a lot harder to talk about things, but I knew she didn’t really want to.

And at one point, I remember being there with the kids and [son], our son looked very like her, with blond hair and blue eyes and I was joking around saying, “Oh, it’s in the genes. Oh he’s so like you” you know, “It’s in the genes”, and my mother-law got really upset and I think that was the real first time that it sort of really hit home that oh, gosh this could affect our kids. It’s not just something that’s for her or even for Rich or Rich’s brother or… It actually could, you know, and I hadn’t really… She obviously had been thinking about all of that without being able to maybe talk about it or express it or not, not wanting to talk about it and… but it was obviously on the back of her mind, because she got so upset when I said that, and I was like… Yes, that was like a sort of defining moment in thinking “this is something that’s going to affect all of us in one way, you know at different times in our lives and maybe never, hopefully, but you know.” That was, yes, so that was sort of a real moment of realising what was going on.

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Helen had never considered that there might be multiple genes which could cause MND. Finding out that her mother-law had the C9orf72 genetic variant “opened a whole world of questions”.

Age at interview 45

Gender Female

(Text edited by Helen)

It sounds so bizarre, but it just didn’t like… It just, whether we’d like just subconsciously put that to the back of our mind to not think about it, I don’t know. I think maybe we just thought there was one gene, one genetic mutation, and his mum had that gene and that’s what it was, and whatever that one gene was is the one that he was at risk of having.

It just never really crossed our minds to look into it at that point in that much depth to even get to the stage of thinking, “Oh, there’s like lots of different genes and…” and when we realised, it was like, “Whoa, we really need to be looking into this” you know. There’s like five main genes out there. Which one is ours? Like there’s a whole world out there. There’s, you know, Facebook forums and groups and research things and trials and we’d been oblivious to all of this. It had sort of passed us by and once, but once we knew that, it was, you know, there was no stopping us then, I think. It was like, it opened a whole world of questions for us and our family that have sort of been answered then the past couple of years.

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