Lexi

Brief Outline:

Lexi is in her 40s. She is married and works full time. She is white Scottish. 

Lexi’s grandfather died of MND, but it wasn’t until her mother was diagnosed more recently that Lexi was told she could be affected in the future. Lexi has decided not to seek pre-symptomatic genetic testing, and instead prefers to make the most of life.

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Lexi’s grandfather died of MND in the 1990s, but it wasn’t until her mother was diagnosed more recently that the family realised it could be hereditary. When her mother shared her diagnosis with her own sister, the family found out that Lexi’s aunt also had MND. Lexi’s mother had genetic testing and discovered that her condition was caused by the SOD1 gene variant. Lexi and her sister were told that they had an increased genetic risk of developing MND in the future. 

The family spent a lot of time together after the diagnosis. They went on holidays and took trips to some of the places that were important to them. Around this time, Lexi and her partner bought a house, which they planned to renovate so Lexi could become her mother’s primary caregiver. Unfortunately, Lexi’s mother died quite suddenly before this happened.

Finding out that there was the SOD1 gene variant in the family opened possibilities for pre-symptomatic genetic testing for other relatives. Lexi’s uncle and his children wanted to know whether they could be affected by MND in the future, and he had the genetic test and received a negative result. Lexi and her sister both decided not to find out whether they have the gene variant. Lexi knows that there’s a chance she could develop MND, but feels that until a cure is developed, there is no point in being tested. Not knowing allows her to enjoy her life. 

Lexi’s experience of MND, as well as losing her father to cancer, has brought her family closer together. Her outlook on life has changed, and she emphasises the importance of enjoying the moment, and making time to spend with friends and family. Nonetheless, MND is something that is “always there”. Although Lexi is able to compartmentalise things, she finds that she is aware of sensations such as stiffness or pins and needles and worries that these are due to MND. When this happens, she finds going to a physiotherapist helps reassure her and relieve anxiety.  

Lexi tries to keep up to date with research around MND. She has joined online groups for people affected by inherited MND, and although it can be difficult to read about other families’ experiences, she finds it helpful to hear from people in a similar situation. Lexi also attended an information day for families who have been affected by inherited MND, where clinicians and researchers presented research around the disease. She found this useful, but would like more information on the latest research, especially opportunities for participating in trials. She feels that people at an increased genetic risk of developing MND could be valuable in future studies.

Lexi did not have any genetic counselling following her mother’s diagnosis, but sometimes feels more professional support would be useful. Although she emphasises that the person with MND should be the main focus, she encourages healthcare professionals to consider how they can support other relatives, who may have to deal not only with the diagnosis of a loved one, but also the knowledge that they could be affected in the future. Lexi encourages other families facing inherited MND to seek help for themselves if they feel they need it, and to make the most of the time they have with loved ones. 

Lexi immediately thinks of inherited MND when she has “something that’s a bit odd going on”. Over time she has learnt to calm herself and recognise symptoms as “wear and tear”.

It’s always in the back of your mind, and as I say, if you have something you know, that’s not 100% you think, “Oh, gosh, what’s that?”, and then, but it hasn’t changed over time. It might, may, yeah, obviously with mum dying it kind of brought it to the forefront.

As time goes, I think time is a healer, but I don’t think that thought of having this genetic disorder goes away, it’s just a way of managing it, and for me it’s compartmentalising, and really the only time it rears its, I call it its ugly head, is things like if I’ve got something that’s a bit odd going on you know, that isn’t, that could be, then I sort of think about it.

But I’ve even, even that I’ve kind of learnt to you know, deal with that because I do have lots of you know, I’ve got this sore back continuously and all of that, so, and that’s not hereditary, that’s just, that’s just wear and tear and getting old basically [laughs]. So you know, I do just have to calm myself down and think, well you know, everyone, getting nearly 50 now so you think, “well you are getting older Lexi, you have to, and you haven’t been you know, you’ve skied like a nutter, you’ve ripped god knows how many ligaments along the way, your body isn’t like it was”, so you just, and then once you have that thought in your mind you think, “Oh well yeah, that’s true” and I you know, the chances are it’s nothing. And then I go for a physio session and rightly so, it’s nothing.

Losing her mum to MND and her dad to cancer has changed Lexi’s outlook in life. She prioritises enjoying time with family and friends and sees her job as a “means to an end”.

For me I think my outlook in life, and even since my father died, has changed so much. I was, and I mean I, gosh, I’ve still got a very good job and you know, I really enjoy my job, but I think you know, it definitely brought the family even closer than we already were together. It put a massive strain on our family I think as, after my dad died it was really tough, but it definitely brought us closer together. So then when mum was diagnosed it was just like, it just hit us like nothing you could imagine.

But you know, we’ve always, I think that outlook in life is just enjoy life today and you know, yes, okay, you know, I might live until I’m 100 but I would rather enjoy it now, and friends, family are everything. Work is important but it’s not, it’s a means to an end. It sounds awful because I do enjoy my job, but it’s a means to an end in terms of it allows me to have you know, my family and friends and maybe have it a little bit more you know, go on amazing holidays rather than.

But that’s you know, it’s just a different outlook and way of looking at life now than maybe it was in the past where you think, “Oh, I must get this presentation done”, or “I must do this report”, and you know, you’d work all hours to do it. I still work hard, don’t get me wrong, but I prioritise my life differently now.

Lexi had a few conversations with her mum about the implications of inherited MND for herself and her sister, but focusing on this felt “selfish” when her mum was living with the disease.

I remember having a conversation about it with her and I kind of thought it was all, and I was like, “Oh, god mum, what have you done, you’ve passed this awful disease on to us” you know, jokingly, and she’s like, “I wouldn’t wish it on my worst enemy but you’re going to have to face the fact that you may have this disease”. And that was really, I’m sure she felt awful about it herself, but she would never have, she didn’t say that to us. She wouldn’t want anyone to have MND, no-one would.
 
But we never had a long conversation about it and what it meant. Not even to [sister], my sister, it was very much, especially as she had a son and everything like that. As soon as we had that conversation it was very much, “It doesn’t matter, we’re not getting tested”. So it kind of just… and we were very, and still are very happy with that decision. And, so she was just like, “Okay, fine”, it wasn’t, we didn’t make it…
 
At the end of the day, she was the person that had MND, we didn’t know, we still don’t know what’s going to happen with us, so we focused on her not on us. I guess we probably thought it was a very selfish thing to have a conversation around as well because at the end of the day she’s the one that’s going through the hell of this awful disease, we may not even get it, and we didn’t want to make her feel even worse than she already was, so.

 

Lexi’s friends have been supportive, but she doesn’t want to talk about inherited MND; she’d rather just “enjoy their company”.

I mean we don’t tell everyone that we’ve got this horrendous, disease potentially. I think the people, we have very close friend relationships, we have, in fact both my sister and I have got very similar, if not the same, circle of friends. Our close friends all know and all knew mum and dad, they’ve been friends for years and years and years and they all know the situation. Been very, very good through the whole thing, and we don’t really talk about it. It’s one of these, I don’t want to talk about it and you know, it’s, I’d rather just enjoy their company and enjoy having fun and doing whatever we do together. It’s not something that I bring up in conversation unless you know, something happens and you know, they want to talk about it, but, yeah.

Lexi encourages people to make the most of the time they have after a family member is diagnosed; it is important to “create as many amazing memories as you can”.

I mean at the end of the day this disease is I think probably one of the worst you can potentially have as a diagnosis, and you know, when you receive the news that one of your loved ones has that it’s bad enough to then go on to find out that it’s hereditary is just another blow. But you know I just think try and you know, find out as much as you can and make the decision, obviously you know, your loved one is going to go through a horrendous time, stay strong, I mean goodness, it sounds so, so simple but you know, be there for them and listen, enjoy every minute you have with them, gosh, make the most of you know, as soon as they’re diagnosed make the most of the time they have of being relatively healthy.  It moves very fast typically, average life is one to two years so you know, as soon as you have that diagnosis book yourself an amazing holiday and create as many amazing memories as you can. And yeah, just continue afterwards if, if that person’s passed away get any help you need, whether that be counselling, talk to other people.

And yeah, make the decision whether you want to get tested or not. In my case I didn’t, but that might not be for everyone, everyone’s different. It’s, it’s a tough, it’s a tough you know, thing to, to go through, and I won’t say it’s easy because it’s, it’s certainly not, but we all just hope and pray that there is a cure sooner rather than later.

Although “the number one focus” should be on the person with MND, Lexi feels it is important not to forget family members, who could be affected in the future.

I think it’s important to clearly put the number one focus on the MND sufferer, but not to forget the family and the carers around that patient because ultimately, especially for familial, you’re going through your, you’ve got your own story behind… you’ve just found out your mum or your dad has got this awful disease, “Oh, and by the way, you might have it in the future too”.
 
So having that understanding and obviously trying to do whatever they can to help that, both them and the patient and the carers and family I think is really important. And I don’t know, I think that can just be like, as I said just now, could be just offering something like a massage, something just to take the burden and weight off or something to you know, counselling, it could be anything like that, talking to others that are in the same boat so to speak, yeah.