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.

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.

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.

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.

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.

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.

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”.

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’”.