Professional support and monitoring (including after genetic testing)

This section covers people’s experiences of seeking professional support, including:

  • Information and support after pre-symptomatic genetic testing
  • Having tests and monitoring for possible symptoms
  • Having counselling and emotional support

Information and support after pre-symptomatic genetic testing

People we spoke to had different experiences of support after receiving a positive presymptomatic genetic test result. People often felt that finding further information and support was “off your own bat”. Harriet said, “it’s up to us to delve deeper into that and find things”.

Some people had further contact with their genetic counsellor, like Calum who had some questions after finding out that he carried the C9orf72 gene variant. He went back to his counsellor for more information on the way his results were presented (see glossary for key terms mentioned in Calum’s clip).

Receiving his pre-symptomatic genetic test results, Calum had almost expected to be told “you’ve got it… we can see it in the microscope”, but he found the way the results were presented unclear.

I think one of the things I would say to you is how the result is presented to you is ambiguous because they test you and say you have it, but they do it on a marker of repeats in your gene, so do you have ‘X’ amount of repeats in that gene, and if it’s over a certain mark the NHS classes you as “has it”, whereas in other countries the mark is lower.

So when you’re researching about these sort of things you don’t really know where you stand against other tests, and there’s no like great international testing standard that says people have got it if they’ve got ten repeats, whereas Calum’s got 40, so it’ll go over. And that was really, really difficult to comprehend that yeah, so science is all great and whatnot but actually we can’t test properly to know what the result is.

So, I asked the genetic counsellor in my result’s appointment to request a detailed breakdown of my results. So instead of just saying I’ve got 40, and I think I asked for a breakdown of my father’s results and my results to see how many repeats there were, and I can’t remember what the other thing I asked for. Basically I wanted to know how many I had, because basically the test is “have you got more than 40, if you’ve got more than 40 you’ve got it”, but I didn’t know how many I had. So I said, “Well how many did my father have and how many have I got? Have I got 41?” because if I’ve got 41 my opinion is going to be, “Well what’s the difference between 40 and 41, am I just at a lower risk?” whereas you could have 39 and 40 and I’m thinking, “Well, am I in that category that I’m at risk if I was tested in a different country?” you know, so I wanted to know.

So in February, the counsellor came back to me with the results. She’d sent the tests to [hospital] to do a detailed breakdown and they came back and said that they couldn’t identify how many I had because different parts of the body have different amounts, so the repeats in one section that they took the blood from in my arm could be 40 bloods, but I could have less in my neck or wherever.

So, they did test but they couldn’t count every repeat because it just goes on forever, so I have no idea how many repeats I’ve got. I don’t know if it makes a difference like Huntington’s disease where you have a different stage. They say it doesn’t, but some research says you’ve got it at different rates. So, I felt in worse space for knowing that I had it and don’t know the results, which was a bit annoying.

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Anthony’s genetic counsellor called him on the phone a few weeks after giving him his results and again a year later, which he appreciated. Jade’s genetic counsellor stayed in contact by email early on. They were both told to get in touch if they had questions or needed anything.

Although Lillian saw her genetic counsellor after receiving the results, she didn’t feel he was well placed to support her, “We kind of sat in the room staring at each other because he isn’t there for managing sleep and anxiety, he’s there to manage genetic counselling and the build up to results”. Her genetic counsellor suggested she ask her GP to refer her for Cognitive Behavioural Therapy (CBT). He also told her about opportunities to get involved in a research study and information day around inherited MND, though these suggestions seemed like “after-thoughts rather than a plan”.

Lizbeth and Lillian both felt unsupported after the test, with insufficient follow-up or outline of the next steps.

Lillian felt “at sea” after receiving a positive pre-symptomatic genetic test. She had to work hard to find research opportunities and support.

I went into a dip after the result because I just felt totally unsupported. The genetic counsellor sort of fed me a couple of things but I wasn’t seeing him anymore, he just rang me a couple of times, so, “Can you go to [city redacted] on Saturday for this FaTHoM meeting?” and that’s been the end of it from him, I heard nothing more after that tip off about the FaTHoM event. That was the worst bit of it, having had all this support from a genetic counsellor and you know, the doctor initially involved, it just went, and if I hadn’t pushed doors and thrown myself around the country, I wouldn’t have the contacts I’ve got now, and I just feel I need to do something, and it’s the being busy and being active and trying to help.

And it is, you know, anything I can give I want to, but also, I want to feel I’m getting the right support. And you know, it sent my head almost exploding that one of the ladies at [city redacted] said, “Well I was just speaking to my neurologist the other day”, and I thought, “How come you’ve got a neurologist? You know who’s supposed to tell me where to do that?”

So that has been my bugbear is that you’re all at sea after you’ve got a result.

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For Lizbeth, this had an impact on her mental health.

After being told she carries the C9orf72 gene variant, Lizbeth felt “abandoned”. She was angry about the lack of support after the test, which had an enormous impact on her and her family.

What they don’t do and I think is important and is something that I really am, I was really angry about for a long time, and I know this happens for lots of genetic testing, it’s, it’s not just MND, they do the due diligence to find, to make sure that you’re stable enough to accept the results of the test and then they send you home. And then there’s no follow up, and that’s really tricky. So if I was wanting to do anything about that past I think that- I had the test on December the 18th, or December 12th, December the 18th in 2012- I think they should’ve been touching base with me for a good six months afterwards because my family had all of that and that was not nice for any of us. The knowing was much worse than I thought it would be.

Genetic counselling is important but support afterwards is far more important because what you do with information like that? It reminded me of my grandmother in 1981 being told, “You have MND, go home and die”. It really resonates with me that way, “You’ve got the test, go home and get on with it”.

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However, not everyone felt that they needed further support after the pre-symptomatic genetic test. Harriet said, “I don’t know what they could give me right now truthfully. I don’t know, I don’t think I need anything”.

People we interviewed who had received negative pre-symptomatic genetic test results had not been given any follow up support since finding out their results. Maggie and Kelly were told by their genetic counsellors to call if they had any questions or needed anything, but they didn’t feel they did.

Some of the people we spoke to had suggestions about what support would be helpful after pre-symptomatic genetic testing. This is covered in advice and messages to healthcare professionals.

Having tests and monitoring for possible symptoms

Several people we spoke to had been to see their GP about possible symptoms. A few felt they had to “educate” them on inherited MND, as their GP didn’t know much about it and had to look it up. Anthony suggests there could be better awareness on inherited MND amongst GPs and healthcare professionals.

Others felt it was hard for their GP to understand their worries. Liz Z said, “you feel a little bit like a hypochondriac… I mean, I went to the GP last year and I said, ‘I’ve got fasciculations (muscle twitches) in my hand,’ and she looked at it and she said, ‘No, there’s nothing to worry about,’ but for me, there is something to worry about. And I don’t think people understand that… overwhelming fear”.

Liz was referred to hospital for an electromyography test (EMG test), which measures how well nerves and muscles are functioning. The technician doing the test told her that her symptoms were probably caused by the way she slept, which “put my mind at rest…because there was a reason”. Mary has been for tests on two occasions after worrying about possible symptoms.

Mary felt she had to push her GP to refer her for tests over possible symptoms. The neurologist she saw was “lovely” and “reassuring”, but going to a different hospital was a less positive experience.

It would be a case of going to the doctor, the doctor doesn’t really understand MND first of all, because he’s just a general practitioner.

Then you’d have to try and explain, ‘I know that I’m panicking but it’s in the family,’ da-da-da-da-da, ‘I’m getting a bit worried,’ and they kind of look at you as if… and then they usually get the book out or go on the computer, and then you kind of push them so that you get an appointment at the hospital. Then when you go, it’s not really… the first time I went, it was with the consultant that my dad had been seeing for a few years, so I’d had that general relationship with him. And he was lovely, really reassuring.

You could speak to him about things and stuff like that. And he basically reassured me and said, you know, did basic tests on my reflexes and looked at my muscles and he said, ‘No, you’re perfectly fine, Mary,’ kind of thing.

You know, ‘It’s all in your head but if you ever feel like this again, just go to your doctor again and come and see me,’ that’s what he said, but I’d moved out of the area. So, and then, now I’m in a different area, it’s just your general hospital and it’s just a random person who just hooks you up on the machine, which I’d never had before, and then just gives you the results and that’s it.

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Richard had a period where he was worried about possible symptoms, and went to see a neurologist, who reassured him that he did not have MND. The neurologist gave him more information about inherited MND and talked to him about his concerns. He said, “it was quite a defining moment in terms of how I’ve got my head round it all and how I manage it… the language he used around, by default the human body is wired to be positive and to recover and to move forward…they were invaluable words that I’ve tried to apply”.

Adam has been having ongoing tests about possible symptoms. He felt “dismissed” at first, partly because of his age, but has been seen more urgently since paying for an appointment privately.

Angi feels people with a family history of MND should be fast tracked for tests if worried about possible symptoms.

I’m aware of any changes within me and what to look out for, so I hope I’ll be fast tracked. If I go to my GP in you know, if I notice some changes in me, whether it’s me speech, whether it’s me hand not working or a dropped foot or something like that, I would like to think I can go to the GP and ask to be referred straightaway to be tested, I haven’t got to go through the long process, you know what I mean? I would like to be able to get fast tracked if I notice any difference in myself, and I hope that would happen.

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Lizbeth and Calum have annual appointments to assess their health and any changes.

After receiving a positive pre-symptomatic genetic test, Calum asked his GP to see him every year to monitor his health. He doesn’t want any changes to come as a surprise.

I had the appointment booked with the GP and he was bummed for me, like absolutely gutted. It was horrible because he remembers when you come to, and you know, it’s just horrible for him as well. But I said to him, “The reason I’ve come to see you is I want to be able to monitor my life going forward, I want to be able to track how I’m doing because I don’t want it to come as a surprise, I don’t want it to be just completely random. What I want is to be able to come to you each year for a health check. You check reflexes, you check BP, whatever, you do your thing, and I come to you and I say, ‘Look this year I’ve had 20 muscle spasms’ and something like that that just seems bizarre, it’s more this year, and we can just record that and maybe do a quick capacity test to see if that’s changing”.
 
That was my view when I went in and he was like, “We can do that. What we’ll do is we’ll do just a standard health check on your birthday every year, like around your birthday”, so that’s what we’ve agreed to do. But I still feel like I’m pushing him for that, like he didn’t have to ask for that. I felt that should be something that should come as standard really because I think it’s important for people to have that, but when you’re diagnosed with something that could happen, you’ve got that comfort of knowing that your GP is there to support you. Because it’s not like I’m going to be coming to him every five minutes and being like, “My arm feels a bit heavy today” or whatever.
 
I only want to come just so he can monitor my health because if in 20 years I suddenly have something dramatic happen then he can say, “Well actually for the last 20 years Calum has been coming to me and having no change in his life whatsoever, why has it changed this year? We know he’s got something diagnosed, let’s look into this in a bit more detail”. I would hope that they would start to do better testing around that. I don’t know if I’ve got high expectations for my GP and the service that they’re supposed to provide me, but I’m just hoping it would benefit not just them but me.

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Lizbeth started seeing a neurologist after her mum died, as the neurologist thought this would “keep my head in a sensible place”. In these appointments she can talk about any concerns and is examined for changes like muscle weakness. She has found these appointments give her “peace of mind” and hopes having regular monitoring means that any changes would be picked up early.

Other people we spoke to valued being able to go to neurologists and other healthcare professionals for information, advice and reassurance.

Having counselling and emotional support

Some people we spoke to had opted to have counselling or therapy to help them manage the psychological or emotional impact of inherited MND and knowing they had an increased chance of developing symptoms. A few people had paid for this privately and others had been referred through the NHS.

After receiving a positive pre-symptomatic genetic test, Lillian asked her GP to refer her for CBT, which she hoped would give her some tools to manage her worries. Her GP offered her antidepressants at first, but she said, “I’m dealing with an anxiety about something that’s sort of inside me that may start to do something sooner or later, I’m not depressed”. After 12 months on the waiting list, she started CBT. Although she felt that “CBT isn’t quite the right thing to deal with this”, it has helped her to understand how she worries. Lizbeth has tried individual and family counselling.

After being told she carried the C9orf72 gene variant, Lizbeth had counselling through the NHS. Her counsellor suggested that she might benefit from family counselling, which “really helped”.

It was very effective because… family counselling team and screen sort of thing is what they do. For the first three, two thirds of the counselling session you and your family sit in a room with a window and there’s a team behind that window watching you with your counsellor. Then for the last third of the meeting you go and sit behind the screen, the team of counsellors sit and they talk about what they’ve listened to and what they’ve heard and then you see your story being talked about from a different perspective, from a different set of eyes.

And it’s probably really, really powerful, well I know it is because then I would be, we’d be driving home and I would think to myself, “Is that the way, is that the way other people see me?” So it can’t be all that bad. “And is that the way, is that really what my husband thinks?” because they, you know, they listened and heard everything, and it would start conversations at home that were a little bit more sensible than the conversations that we were having, so that really helped.

And then at the end of that they, well one of the guys who was one of the tutors on the course said that he thought it would be a very good idea for me to come on their course because not only would I learn, I’d learn- I didn’t know what I was going to do with my life anymore, I need some direction. He said, “It’ll be good for you professionally perhaps, but I think it’d be very good for you”, and I learnt an awful lot about myself in that three years, as I was learning how to do what I do. And that was a big part of getting me back on, getting me back to a place where I can live my life.

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Liz Z decided to seek help to face the impact of inherited MND on her life. She explained, “I had a lot of grief suppressed, and it led to a lot of issues with my moods and my behaviours, and it got to the point where I had to have the therapy to help me understand why I was behaving in a certain way. So from a decision-making point of view, I decided that I needed to face how the disease was affecting me and my life, and asking for the help that I needed to manage that”. Anthony took part in an awareness course through his work on how to deal with emotions and not “spiral”.

JW was offered bereavement counselling through the hospice that had cared for his wife. He had appointments every two weeks at first, and after that met with his counsellor once a month for about two and a half years. He said “We talked about everything and anything. Two cups of coffee, hour and a half, two hours… she was wonderful”.

A few people we spoke to had not had counselling or psychological support but questioned whether it would have been helpful to talk to someone about how they were feeling; people had often been through the illness and loss of relatives to MND, as well as facing the possibility of developing symptoms themselves. Louisa told her mum’s MND nurse that she needed help to manage her thoughts and worries, but nothing came of it which was a bit “disappointing”. Robyn felt it would have been “beneficial” to have been offered such support, “even if you then say, ‘that’s okay, actually we don’t need it’”.