Times when worries about inherited MND come to the surface

Some people described times where they were more and less preoccupied by thoughts and concerns around inherited MND. This section covers:

  • “It’s a rollercoaster”: times when worries come to the surface
  • Worrying about possible symptoms

“It’s a rollercoaster”: times when worries come to the surface

The impact of inherited MND in the family can change over time and as circumstances change.

Over the years there have been times where inherited MND has been a louder or more muted presence in Lizbeth’s family. At the moment, it’s “happily lying dormant”.

People described times when they didn’t think about it very much at all, and a few people felt that they hardly ever thought about it, as it wasn’t relevant at their stage of life. For Georgia, thoughts of inherited MND are “infrequent”; she says, “I’ve sort of trained myself to think that it’s not an issue for me to worry about at the moment”. For others, inherited MND is “always in the back of your mind”, even if a lot of the time they weren’t actively thinking about it. People used phrases like “worming around in my head” and “lurking in the background”.

Although for the most part worries may stay in the background, people we spoke to found that there were times where their thoughts turned to inherited MND, which could have an emotional and psychological impact. These were different for different people but included either during or after the illness or death of relatives; significant dates and anniversaries; when approaching the age where relatives developed symptoms; when noticing possible symptoms; over genetic testing and after receiving results; when taking part in research; seeing things about MND in the media; and when thinking about the future. However, this wasn’t the case for everyone. For Calum, “it just happens unexpectedly”. Others thought about it more at times of stress, or in quiet times or free time, such as after work or at night.

“Some days are better than others” for Lillian. Whilst there are times where she is more or less preoccupied by the possibility of developing inherited MND, she has strategies to help her cope.

Richard has “trigger points” which bring worries around developing inherited MND to the front of his mind. He has to push them back to a space where they don’t rule his life.

Getting closer to the age where a parent or relative was affected can intensify fears, as people often imagined that they might develop symptoms around the age family members had been diagnosed. Some people talked about “doing the maths” to calculate how long they might have before symptoms developed. They based this on their family history and what they knew about the average age of onset. Liz Z explained, “because both my mum and her mother died at the same age of 57, the years from 50 onwards, I was living in dread of symptoms and every twitch”. Other people questioned whether they might get more worried as they got closer to the age where relatives were affected. However, knowing symptoms could develop at different life stages meant it was sometimes hard not to worry at any age.

Pre-symptomatic genetic testing can be a significant time. Nobody we spoke to said they regretted having the pre-symptomatic genetic test but receiving a positive result can change people’s outlook. Harriet has been more preoccupied by thoughts of the future since finding out she carries the C9orf72 gene variant. It is especially prominent as she goes through a process of pre-implantation genetic testing. She describes how, “I feel quite at peace with the thought of it all. I don’t feel a great deal of resentment towards it… but then on the flip side I resent having to go through IVF, 100%… that’s frustrating and disappointing but it is what it is”.

Before the test, Jade recalled thinking, ““Well, I’m not going to sit and cry about something that might never happen”. Knowing she carries the C9orf72 gene variant has shifted how she perceives the future; now, “it’s more of a definite ‘you might get symptoms’”. Whilst knowing this is “a bit more depressing”, Jade feels she has got to the stage where she has processed this information and can “get on with it”. She described inherited MND as “a fly in your glass of wine”, “It’s just a little tiny annoyance. I know it’s there, I can fish it out and put it out of the glass if I want to, but it will keep coming back because it’s not going away. But there’s more wine than there is fly, so it’s okay”.

Worries over inherited MND may have an emotional impact for other family members too. Helen, whose husband Richard doesn’t know if he has inherited the C9orf72 gene variant, described how “it comes and goes in waves… it’s always on our minds, but it’s often like hidden away and then it occasionally rears its ugly head and then disappears again for a while”.

Worrying about possible symptoms

Like Liz Z (above) focusing on ‘every twitch’, being very alert to possible symptoms was a common experience. This is sometimes known as being ‘hypervigilant’. People often worried about things that other people might brush off, like tripping over or dropping things, and felt particularly aware of early symptoms family members had experienced. Whilst not everyone felt worried, especially when they recognised these things as irregular or having a particular cause, others described going into “full scale panic” or “meltdown mode” when this happened. For Liz Z, worries around inherited MND are “always the go-to place if you have any health problem”, and Lexi said, “the first thing you think about is, “Is this it?””

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”.

Like Lexi, other people described how over time they had learnt to take a step back, calm themselves down and recognise other possible explanations for the symptoms they were experiencing. Some went to see healthcare professionals for advice on possible symptoms, including neurologists, GPs and physiotherapists, which could be helpful and reassuring.

Family members sometimes found themselves watching partners or children for signs of MND. One person, whose partner had a 50% chance of having inherited a gene variant linked to the disease, described how in the past they “whipped ourselves up into a bit of a frenzy” worrying about possible symptoms; now, she tries to keep her concerns to herself so as not to upset him.

People sometimes found it helpful to share their fears and talked about finding support in those around them. Mary described how her sister “gets it” in a way her previous partner did not. “They kind of look at you as if to say, ‘Are you all right? Like, it’s only a funny twitch in your hand’, like, it’s not a big deal to them because they don’t fully understand the extent of it”. Other people also felt that those who had not been directly affected could not always understand their concerns, including doctors.

Liz Z is “constantly worrying” about possible symptoms. Going to the GP has made her feel like a bit of a “hypochondriac”; she doesn’t think other people understand that “overwhelming fear”.

Despite anxiety about the possibility of developing symptoms, people often found ways of coping with their worries around inherited MND.

Ways of coping with worries around inherited MND

This section covers how people coped with worries around inherited MND, including: Attitudes and perspectives Practical strategies and sources of support Attitudes and perspectives People...