Sam

Brief Outline:

Sam was told about MND in the family after a relative, who had been diagnosed, had a genetic test. Finding out about the C9orf72 gene variant was more of a “bombshell” than expected. Sam is considering whether to have pre-symptomatic genetic testing.

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Sam’s family have been affected by the C9orf72 gene variant. This was confirmed after a relative, who had symptoms of MND, had genetic testing to establish if their illness could be linked to a genetic cause. Although Sam felt that having genetic testing was the right decision, as it gave the family more information and options, having this confirmed was more of a “bombshell” than expected. Knowing the name of a gene made it more “real”. The way the results were presented was particularly upsetting, and Sam felt shocked and anxious for several days afterwards. 

Generally, Sam doesn’t feel the family history of MND impacts their daily life too much; as there is “nothing that can be done about it”, they don’t often worry about it. Nonetheless, it is something they think about at times, and they sometimes feel sad about the possibility that this could affect the future they had hoped to have. Sam describes almost planning towards the possibility of developing MND over the coming years. Sam’s experiences have made them appreciate life.

Sam has grappled with the decision over whether to have pre-symptomatic genetic testing. Initially, they did not think there was a benefit to knowing; they planned to wait and see what happened. Sam was concerned that receiving a positive result could be more worrying than knowing this might be the case. Whilst this is still a consideration in the decision, they have recently started to question whether it might be “worth the risk” of receiving a positive result. Sam is quite confident that they would be able to live a fulfilling life whatever the outcome, and knowing could encourage them to plan for the future. Sam hopes that the genetic counselling process will help them to think through these different factors, as well as providing more information about research and trials, which they would be interested in getting involved in. Sam is hopeful for research progress in the future.

Being told the genetic variant responsible for MND in the family was “more of a bombshell” than Sam expected.

I felt really, really upset. Well, I don’t really get hugely upset, I mean I find it, I found myself really shocked because it wasn’t any new information, apart from the name of the gene. So I was kind of expecting the call and expecting to find out the name of the gene and it would just be stuff I already knew, but I think in the way that it was presented or perhaps just it being very real when you actually know the gene is existing, I found myself very shocked and anxious for about a, well, at least four or five days, I’d say. I mean I was still carrying on my normal life, but it was much more of a bombshell than I had expected.

I suppose before finding out that it was the C9 gene there was a sort of tiny chance that it was just a complete coincidence that two family members had died of the same thing even though I didn’t really believe that coincidence had happened. I suppose knowing the actual gene was upsetting because it’s kind of making it much more real, it’s kind of revisiting the… it’s sort of yeah, it’s kind of in your face I suppose.

Sam has “flip-flopped” between a decision on pre-symptomatic genetic testing. Having “come full circle”, they now question whether it is “worth the risk” of taking the test.

That’s something that I’ve really flip-flopped about, I change my mind on a lot. So for example, to start with I thought there’s no benefit in knowing, I’m just going to have this information and then just see what happens. I think knowing, would I actually find that more upsetting because obviously if you find out that you’re not then that’s great, but I feel the risk is clearly that you find out that you are and then that’s even worse. So that’s how I started off and I held that view for a few months, and then more recently I’ve wondered whether actually it is worth the risk, and I’ve come full circle on that.
 
I think for me it was just that I got used to the idea of possibly having, well I got used to the idea of having a 50% chance, and I can manage to live my life in a happy, fulfilling way with that knowledge. So I kind of feel like having done that for like six months or more now, I feel like even if I had the knowledge that I was positive, I could probably do that even with that extra knowledge.
 
The upside of knowing that you’re positive is I suppose that you’d be much more on it with regards to planning your life, much more aware of options, care options, treatment options, voluntary euthanasia options, all these kinds of things you’d do masses of research into, well I would probably do lots of research into them that I’m not doing now.
 
Also there might be research trials you could get on to that I’m not, I don’t know yet.
 
The whole purpose of that genetic counselling is to make sure you’re ready and sure and stuff. So I think I probably will, I expect it will change my decision making quite a lot.

 

In Sam’s experience, there isn’t much support available for family members living with the knowledge they could develop MND. Facebook groups have been “helpful and reassuring”.

So, there’s obviously a huge amount about living with the disease and - or not a huge amount, but that’s really helpful, the information that exists about living with the disease, and when my family member had the disease, I felt like that was quite well catered for.

But in terms of living with the knowledge, without symptoms… I’m a member of Facebook groups, and those are the only two places that I’ve found that have been - I’ve not actually commented on any of them but if I had a question… they, they’re places that I can communicate with people in my situation. But I think I just found those randomly by, by typing them in, but actually they’ve been very helpful and kind of reassuring.

I wondered what your kind of motivations were for looking for those kinds of support?

I think originally, I think they’re twofold really. I think mainly for information, because actually on the Facebook groups you find out information about new break, minor breakthroughs and new trials that are starting and there is a sort of element of, of usefulness in that regard. And then secondly, it’s also just to feel that you know, to hear stories of people who have got this quite unusual situation that you’re in.