Messages to healthcare professionals: Living with inherited MND and genetic testing

People we spoke to had advice and messages for healthcare professionals and other organisations supporting families affected by inherited MND, covering a range of areas:

  • Living with an increased genetic risk of developing MND
  • Genetic testing after a diagnosis of MND
  • Pre-symptomatic genetic testing

Lizbeth summed up what many people thought in recommending professionals should “be kind and informative and listen”. There was generally a lot of praise for the empathy and understanding shown by staff, even when working under pressure.

Living with an increased genetic risk of developing MND

People emphasised the importance for professionals to recognise the possible emotional impact of living with an increased genetic risk of developing inherited MND. Calum’s advice was, “don’t forget the mental consequences that come with diagnosis of someone with an inherited condition, because they’re not obvious on the first day”. Kirsty’s advice to healthcare professionals was to “appreciate that everybody will react differently… there’s not necessarily rhyme or reason to what is causing the most fear”.

Richard emphasises the “mental baggage” of living with an increased chance of developing inherited MND. It’s important for healthcare professionals to acknowledge this “bigger picture”.

It would be just to be aware of how much of a mental baggage it is, especially if you’re in the scenario that the genetics have been confirmed and you’ve got siblings or whichever family members, that they’re almost seeing a potential, a real sort of potential outcome in their life, albeit not confirmed, but… That’s quite a big emotional scenario to deal with, that you’re, without getting too dark about it, you’re seeing how you’ll die, basically, and that’s quite a big emotional baggage to have.

Albeit, I’d be surprised if most people weren’t in the space that I was in, that you can’t feel too sorry for yourself and get too emotional about it, because one of your loved ones is dealing with it first-hand, but it’s just having that, I guess, acknowledgment of the emotional baggage of the bigger picture, as well, for those individuals.

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People felt there should be professional support available to help them manage this knowledge and cope with how it affected them. Lexi gave several suggestions:

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.

 

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Other things people suggested included:

  • Support around talking to children about inherited MND. Some people weren’t sure how best to approach such conversations or when to share information on the family history and genetic risk
  • Pointers to reliable and accessible information, which could be difficult to find
  • A register or repository with details of research studies to find out the latest research and be able to volunteer
  • Recognising that people’s information needs may vary, depending on their circumstances. Not everyone wants to know everything all at once

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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  • Bereavement counselling after a family member has died, tailored to inherited conditions
  • Fast track referrals if worrying symptoms appear
  • Being realistic with people but also offering hope, given that it is unpredictable whether people will develop the condition

Genetic testing after a diagnosis of MND

Families had a range of experiences of genetic testing after a diagnosis of MND. People had several suggestions around genetic testing which they felt were important for healthcare professionals to consider:

  • Recognising the potential impact of genetic testing results for family members – finding out the genetic variant of MND in the family and the possibility of inheritance was upsetting and scary for some people
  • Having dedicated time to discuss the implications of genetic testing for family members, who may have questions of their own

In hindsight, Louisa feels that the decision for her mum to have genetic testing after her diagnosis was made too quickly. The test results are “a big nugget of information that I don’t know what to do with”.

That was quite quick actually, and in hindsight it was probably too quick. It was a case of, “We can do your blood tests and one of them can include looking at your genes, what you might have, given that your mum, your gran” – my grandma – “Your mum had it”. And the doctor asked a lot about anyone else, like her parents that had had a diagnosis of dementia or motor neurone disease. It probably lasted about a minute or two, I mean to give him the benefit of the doubt it maybe went up to five, with going back into the family history and stuff …. And then it was just like, “Yeah, well I guess so”.
 
Then the next thing… I maybe helped my mum say yes to that, I don’t know, I couldn’t be 100% sure to be honest. I feel like it just happened quickly, it was a blood test that she could have done and then it wasn’t really a lot about the impact of the information discussed at the point of testing, “Shall we test? This might bring up this problem and this problem and this problem”. Maybe there was a little, wasn’t enough of that or a lot of that.
 
I guess I feel like finding out its inherited is huge. There was so much gravity on the first neurologist not diagnosing my mum with motor neurone disease and waiting for a specialist to do that because of the gravity of the diagnosis, that I feel like that was pitched right. Yet, the inherited factor doesn’t have the same pitch. The gravity is the same for me – I mean it’s not the same, you’re not actually being told you’re going to get it – but the feeling that you get is like that.
 
So probably yeah, it needs to be… I know it’s held in high regard, I know that it’s not taken lightly that people give this information and I think that mum’s neurologist is amazing, his way of speaking with us and her is brilliant. I guess it’s just, what I’ve found is it’s just a big nugget of information that I’ve got now that I don’t know what to do with. So, something that would be like helpful about that would help.
 
Yeah. Are you thinking of anything specific?…
 
I’m not really thinking of anything in particular, I just feel more time dedicated to that information given. It’s just a blood test result but it’s not really just a blood test result, do you know what I mean? I don’t know, maybe your own appointment, separate appointment, because then I could speak about all my irrational thoughts and feelings, or rational, maybe one or the other, without being in front of mum and dad. There’s questions that I might’ve asked at the point of testing for genetics, doing the test, if my mum and dad hadn’t had been there.

 

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  • Encouraging and supporting people to think through family communication around genetic testing and sharing results
  • Using accessible language when sharing results, and making sure people know where they can go for more information

Pre-symptomatic genetic testing

People also had advice and messages for healthcare professionals around pre-symptomatic genetic testing:

  • People wanted to be given standard and accessible information on the genetic counselling and testing process.
  • It could be helpful to have written/ recorded information to take away, to recap the information given in genetic counselling and to share with other family members.
  • It is important for healthcare professionals to respect individual views on genetic testing. As John said, “People have different ideas and approaches and shouldn’t be pushed one way or another”.

Kelly thinks it’s important that genetic counsellors avoid “medical jargon” when talking to people, and don’t make them doubt their decisions on pre-symptomatic genetic testing.

Don’t expect them to understand all the medical jargon. If someone, like my counsellor did… try and do it as though you’re speaking to them never having spoken to a doctor, they’ve never spoken to a doctor or done any research. Speak to people in layman’s terms, and appreciate the fact that if they’re there, they’ve made the decision that they want to do something about this and start the process. Don’t make them doubt themselves because they are there for whatever reason is good enough for them to be there, that’s their good reason, and I don’t think making them second guess themselves on whether they’re making a right decision… they’re there for them, nobody else.

 

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  • People emphasised the need for consistent practice around the pre-symptomatic genetic testing process.
  • It’s important to know what to expect in terms of the timetable for getting results and how they will be delivered.
  • Individuals should be told how the results will be presented to avoid surprise or confusion.
  • GPs should be made aware of services available to support people in making decisions around pre-symptomatic genetic testing.

People emphasised that individuals need different levels of support after receiving their result, but the importance of offering ongoing professional support to those who were given a positive pre-symptomatic genetic test result was highlighted. Not being offered such support had a negative impact on some people, who described feeling “at sea” or “abandoned”. Jade feels post-test support should be “mandatory”.

In Jade’s experience, receiving support after pre-symptomatic genetic testing is “off your own back”. She questions whether people with a positive result could be referred to a dedicated counsellor.

They have sent me emails and sort of kept in touch early on and said, “You can always email me with anything or any questions you have or anything you need.” I know where to find them and I know where they are. But I guess I might have benefited back at the time with them giving me, I don’t know, if there were some specific counsellors for this type of thing to talk to you if you know you have a positive gene, to just sort of bring you back a bit. You’re reeling when you first find out.

If there was, you know, somebody who could do that for people, and perhaps that could be mandatory, that you know, that you go and have a chat with somebody if you find out that you’ve got the gene, that would probably be quite beneficial. Like I say, they don’t just give you your result and cut you loose; they do give you the information you need and it is there. But you have to kind of get off your own back and find it, and I think after all the hoops you have to jump through just to get the test, it might be worth making you jump through one more, just for your mental wellbeing and your mental health.

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Other suggestions for post-test support included:

  • Having someone to talk to who could check how the individual and their family were coping. As Lizbeth said, “It would’ve been really useful to have somebody to help me come to terms with it”.
  • If genetic counsellors are not able to provide such support, people felt that they should signpost to other resources and services.
  • Being given a standard information sheet with advice on where to find out about participating in research and any next steps, such as whether people would benefit from being monitored by a healthcare professional.
  • Being offered ongoing monitoring to assess health. Having ongoing monitoring was reassuring for some people.
  • Hearing other people’s experiences or having contact with someone in a similar situation.

Receiving a negative result could also be accompanied by a range of emotions. People in this situation would appreciate:

  • Information on how to raise awareness on inherited MND
  • Information on how to best support other family members who had an increased chance of developing the disease in the future.

From her experiences of genetic counselling and testing, Jade’s message was “thank you”, “everything they’ve done for me has been perfect, so I can’t tell them to do it any better”.