Seeking information on inherited MND

People have different approaches to and experiences of seeking information around inherited MND. We spoke to people about:

  • Approaches to seeking information: from wanting to know everything to not wanting to know too much
  • Views on information about inherited MND
  • What information about inherited MND would be helpful

Approaches to seeking information: from wanting to know everything to not wanting to know too much

What information people want and need on inherited MND (including areas such as genetics  and research) is specific to their personal situation and approach. Some people we spoke to wanted to know as much as possible.

Finding out about the C9orf72 genetic variant in her family enabled Lillian to search for scientific papers. Learning as much as possible is “the way my mind works”.

I’ve been all over the internet, I’m that kind of person that immediately you can just Google C9orf72 and find out rafts of scientific papers about the age of onset, the number of repetitions and whether that’s got an effect on onset, whether you’re likely to get it younger than your parents or not. And I immediately became, I got myself as far knowledgeable about it as I possibly could, because I’m like that. I know a lot of people wouldn’t do that but it’s the way my mind works.

So that was a massive time of activity, and I think I must’ve sat at my computer for months researching familial motor neurone disease and obviously the dementia side of it as well, and everything that they’d found out about this gene so far.

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Family members sometimes had different approaches to how much they wanted to know. Helen, whose husband doesn’t know if he carries the C9orf72 gene variant in his family, found it helpful to learn about inherited MND. She said, “even if my husband doesn’t want to know any more about it necessarily, I find it really useful knowing as much as I can… if I ever end up in that situation where I have to be a carer, [it] will help me to stay calm and deal with it”.

David, who is living with MND, is active in keeping up with research around the disease. In his experience, patients are sometimes more knowledgeable than healthcare professionals, which can be “empowering or very frustrating”. Having seen other family members living with MND before her own diagnosis, Liz X points out; “I can’t electively choose not to know…I already know too much”.

Other people didn’t have time to do lots of research or felt this wasn’t how they wanted to spend their time.

Adam thinks that once you know the facts about inherited MND, it doesn’t really help to keep looking up information. For him, it’s more important to “live in the now”.

“Don’t cross the bridge too soon because you’ll pay the toll twice,” you know?  You can research into all this stuff but it’s not going to, it’s not going to help, you know? You know the facts, once you’ve read the facts, it tends to be best to just kind of stay away from that information. I don’t think it really helps once you know, obviously, the main points, I don’t think you should keep looking for things that affirm or deny anything you might think. Just kind of live in the now and do all the things that seem fairly trite but are very true when you’re dealing with such severity.

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Louisa tried not to “overload my head” with information on inherited MND when she first found out about her mum’s diagnosis. Since then, she has sometimes found herself “perusing” online, but normally life is too busy. Hugh, who has MND, said, “I don’t want my entire life to be taken up with researching MND”.

One reason why some people didn’t want to look for information was because they didn’t see it as relevant at present, either because a gene hadn’t been identified in their family, or because no one in the family was currently affected. For JW, whose wife died of MND and whose children had an increased chance of developing the disease, “there’s not much point in looking too much”, given there is currently no way to stop or prevent the disease. As she has no control over it, Georgia Y didn’t think reading lots would be a “good use of my time and energy”.

Given there is no cure, Georgia Y feels that knowing more about inherited MND would “really scare me”. It’s not something she wants to worry about at the moment.

If there was a cure, this would be a completely different conversation. I think I’d want to know everything. I’d want to be aware of percentages, how likely it was that I was going to get it, plan for things. I think, I suppose I do, I do in the back of my mind feel like I want some information about, or need to look at some information about early symptoms. Because if it’s in my family, then perhaps I should be looking out for those because if there’s a higher likelihood that I could get it and then if you’re diagnosed earlier, you might be able to do more things to slow the progress. But again, there is no cure and I don’t want to spend my life waiting for the symptoms to happen. And you can paralyse yourself, can’t you, with Google. Like, you can have a headache and Google your symptoms and it says you’ve got a brain tumour, and I just don’t want to fall into that trap.  
 
So, it’s really difficult for me to answer what information I would find useful at the moment, because I think it would just really scare me if I also saw lots of other people that were my age, for example, who had the gene or had familial, inherited MND, and were developing it really young. In my head, it’s an illness that affects people that are 50 and above, and so it kind of doesn’t feel like something that I want to worry about at the moment, so I feel like if there was more information about younger people who are also in my situation, I think it would actually really scare me. But I can appreciate that others in my situation might feel really differently and they might feel comforted knowing that there are other people their age going through the same sort of processes. But for me personally, I don’t, I think less information as possible, but again if there was a cure, it would be completely different.

 

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Like Georgia, other people also found it scary to think about. Robyn said, “I’ve got a bad enough health anxiety and just general anxiety as it is anyway”. Kirsty said, “Normally I am somebody who would go and look these things up and want to find out more, but I think maybe I was probably a bit scared of what I might find out”.

It took Richard some time to get into a “positive headspace” in managing his thoughts around inherited MND; now that he is there, he is reluctant to do anything that might unsettle that.

I think to a certain extent where my head is, is less is more, a little bit, because I’ve moved it into a relatively positive space in my mind that it’s a toss of a coin: I’ve either got it or I haven’t, and, then, what will be will be.  To a certain extent, I don’t want to know much more because I could find something out that says, “Well, actually it’s not as clear cut as you think.  It’s… there’s other factors at play.” And maybe that’s a bit of ignorance on my part, but because it took me a while to get it to that positive head space, in terms of that, what will be will be, live life to the full. Because, again, until I know that there’s something that can really be done about it, why go into a greater level of detail to a certain extent?

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Occasionally people felt that spending a lot of time online had been harmful to their well-being. Mary stopped looking at online forums when she found herself getting a bit “obsessed”. Looking back, Kelly thinks it would have been better to talk to a healthcare professional than keep reading about inherited MND on the internet, which was “gut wrenching”. Lizbeth values having direct contact with healthcare professionals and asks the neurology team she is in contact with when she has questions, which is better for her than going “down a rabbit hole” online.

In the past, Lizbeth spent too much time searching for information online. It’s important to know where to look, because “at 4 o’clock in the morning… it all looks like a possibility”.

When there’s something I don’t understand I’ll, I’ll always email it to those guys and they’ll always come back and dumb it down a little bit for me or tell me not to worry or tell me that there’s hope for something here, there’s that or something there, they’re very good at that.

In the beginning when I Googled and Googled and Googled, I found all sorts of stuff. I could’ve gone to China and had stem cells and stuff if I’d have wanted it. I could’ve tried all sorts of bizarre stuff, and yeah, at 4 o’clock in the morning when you can’t go to sleep it all looks like a possibility and I think the internet’s a little bit dangerous for that.

But I think it’s important to know where to look, and it was because of the, my conversations with the neurologist that I talked to that pointed me in the right direction rather than… I totally get it that you know, anybody in my situation wants, can be really hungry for some information sometimes. I was fifty, almost two years ago, around that time in my life I was probably on the internet a little bit too much looking… but Jade [interviewer], what do you look for? You’re not going to get… was I looking for a miracle?  Well probably.

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Some people felt they knew enough about inherited MND. Harriet said, “I’ve not been hugely interested in reading absolutely everything about it… I know all too clearly what it looks like if it develops… I don’t feel like I want to know anything more just yet. I can see that changing”.

Paul also pointed out that people’s information needs may change over time.

Paul wouldn’t have wanted lots of information on inherited MND when his mum was unwell; it would have been “swallowed” by his focus on supporting her.

I wouldn’t want to be swamped with information about the hereditary nature of MND at the time. I think professionally it’s appropriate to say, “There’s been an MND diagnosis, and we’ve identified a contributory gene, which is hereditary, it doesn’t have immediate implications for you. If you have the gene you may or may not develop the illness”, and that’s what basic information which is where I started was really important.

But if I’d have got a lot of technical information it would’ve been swallowed by the fact that I’m trying to process the diagnosis of my mum and think about how I’m going to support her and my dad and what contribution I could make from a distance, so I had to settle into a role, and that role was really , which was good for us, we were the, doing things different and the enjoyment bit , rather than the day to day caring.

So they’re two quite important messages. I’m not sure whether the health service can resource for the extended families of familial MND, a tailored service. I think the information that’s held on appropriate websites, if you can be directed towards that I think that’s helpful, because it changes over time as well and I don’t think I can expect my GP to keep up to date with it all; if I expected MND, somebody would expect something else. I think that’s partly our own personal responsibility as well. So, I think it’s about understanding as, as medical professionals would, and that’s my perspective and my needs, other people’s needs may well be different.

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Other people spoke about wanting to know more at specific points, for example after receiving a positive pre-symptomatic genetic test result, or after a family member with MND died.

Robyn emphasised that it is important for people to take the approach that is best for them, “If you want to educate yourself educate yourself, if you want to bury your head in the sand bury your head in the sand”.

Views on information about inherited MND

People found information from a variety of sources, including:

  • The MND Association and MND Scotland websites and resources, as well as other MND-related websites.
  • Scientific papers
  • Symposiums and conferences
  • Information days for families
  • Healthcare professionals including neurologists, research nurses, genetic counsellors and geneticists
  • Researchers (through involvement in research studies)
  • Social media, social media groups and online forums
  • Family members and other friends or acquaintances

People found certain websites helpful in providing accessible information that met their needs, particularly those provided by the national MND charities. However, Kelly feels the internet presents a “worst-case scenario”, and others described things they had read as “scary” or sensationalised. Adam found some websites cold, “there’s black and white information, there’s nothing else, there’s no feeling to anything MND… there’s no warmth to anything: diagnosis, symptom management, support systems, anything”.

Searching for information could be intimidating and hard to navigate. It could be difficult to read and understand, particularly scientific jargon or information on genetics. Some people described “skimming over the surface” when they found things they couldn’t understand, and others stopped reading or didn’t start in the first place.

Kirsty didn’t do lots of research on inherited MND at first; she didn’t feel it was a good idea as she wasn’t sure she would be able to understand it fully. David’s approach was to write down words he didn’t understand and look them up, or ask questions to people he knew. Calum went from knowing nothing about inherited MND to reading 60-page journal articles. A lot of what he read was “gobbledygook”, and he feels the quality of what he learnt wasn’t good until he saw a genetic counsellor.

Reading about inherited MND can be “confusing”. Some of the information Calum read made him question things he has been told, and he isn’t sure he gains anything from knowing.

I find it awfully confusing, there’s so much research out there and when you do read into these things it changes your perception of things that you’ve been told or things that you know… I’ve met people in this process and some have been of the opinion that “It won’t be curable for me and I’ve got to live with that”, whereas others like that doctor was saying, you know, it could be in my lifetime that it can be completely cured.
 
So to read into something specific like how your test is, then it just confuses the hell out of you because every research is different, every journal article, everything. And it’s just trying to find the middle ground – what are they all saying that matches? But to do that, you have to read ten articles or whatnot. Time consuming, it’s really time consuming.
 
And I’m a very sociable person, I live my life and I work and if I spent hours reading these things that don’t really have a tangible benefit in life, I don’t really gain anything from knowing. It seemed pointless to me.

 

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Angi said, “I had a look and I thought, ‘What’s the point?  I’ll just wait and see’. It’s pointless getting bamboozled with everything”. Another person wasn’t sure how to assess whether what they were reading online was correct and legitimate.

What information about inherited MND would be helpful

People generally wanted information that was accessible, informative, and balanced. Some felt that the information available met their needs, or they didn’t need to know more at present. Others suggested areas where they had a need for further information. This included around the genetics of MND; the latest research (suggestions included scientific articles written in accessible language and overview articles); research opportunities; genetic counselling and testing (including on next steps after pre-symptomatic genetic testing and on post-test support); managing the emotional impact of living with genetic risk; insurance implications; and caregiving. People wanted:

  • A single place for finding reliable and useful information that is quality controlled and regularly updated
  • Accessible information written for the public. Information should be pitched at the appropriate level so it can be read by people without a scientific background. However, some people might want more detailed information too.
  • Opportunities to seek information face to face
  • Written/ recorded information to take away, for example after meetings with healthcare professionals. Some people felt this would be helpful when sharing information with family members.
  • Opportunities to hear from others in a similar situation
  • Information that comes to you, such as through mailing lists

Kelly would like to see more positive information on living with MND, and specific to inherited forms, so people know that their life is not over, and they can still achieve their goals.

I think the main thing that I want… when I was Googling it at the time, and I know it sounds really daft, but if I just clicked on a website and the first thing popped up was, “Just take a minute”, you know, “Before you click anything else just take this and know you are okay”. And then it then could explain in layman’s terms what it is. And instead of saying, “These are all the symptoms you’re going to potentially go through”, have, “Everyone’s symptoms vary, these are some of the things that you could go through, and these are things that can be caused from…”.
 
For example, you can have issues where you can’t breathe as simply as anyone else in the room could because all the organs are starting to shut themselves down and suffer. They can explain, “Yeah, you are going to struggle to breathe but there are things in place that can help you. You can have an oxygen tank next to you for those moments when you need it, this is what you need” you know.
 
From my perspective, one of my first things was, “Oh my god, can I have kids?” and instead of just going through in technical jargon that no-one could understand, just saying, “There’s a hundred different option for you. If you are hell-bent that you want to carry your own child, you can do it. You can still do that, you can still have your dream and there are other options, but if that’s what you want to do, it is possible.”
 
I think a lot of it needs to be on “Your dreams aren’t over”, if you know what I mean. Your life isn’t over, you can still achieve what you want to do with your life, you haven’t in the sense as I saw it, you’ve not got a death sentence.

 

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Other people talked about the kind of information and support that would be helpful in messages to healthcare professionals around inherited MND.

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