John

Age at interview: 69

Age at diagnosis: 67

Brief Outline:

John is retired, and previously worked as a project manager in IT. John has a long-term partner. Ethnicity: white British.

John was diagnosed with MND in March 2018. Although his mother previously had the disease, he did not initially think it could be hereditary. John feels that knowing what to expect has helped him prepare for the future.

More about me...

John was diagnosed with MND in March 2018, after noticing a weakness in his leg. Although his mother had died of MND, he wasn’t aware that it could be hereditary. John saw several healthcare professionals, who ruled out other causes for his symptoms. Once he was referred to a neurologist, he was quickly given a diagnosis of MND. 

John felt it was important to know whether his MND was inherited, as this could influence future treatments. This was confirmed through a genetic test, and John was told he had the C9orf72 gene variant. In a way, he felt this was “good news”, as there is a lot of current research and trials into this particular cause. 

John has 5 siblings, and his diagnosis started a debate in his family about whether to have pre-symptomatic genetic testing. Each of his siblings have taken a different approach, and John emphasises that it is important for everyone to make their own choice. One brother has recently been diagnosed with MND and frontotemporal dementia. Another brother has been tested and has discovered he carries the C9orf72 gene variant but has no symptoms yet. His final brother is currently seeking testing. John’s two sisters, who are the only siblings to have children, have both decided not to be tested currently. John feels his condition has brought the family closer, due to the need to communicate.

John has used the MND Association website, as well as information on research sites, to find out more about MND. He has used the internet to connect with other people with MND, who have been a source of practical support. John’s approach to living with MND has been to stay “ahead of the game”. He feels that seeing his mother with the disease helped him know what to expect. He organised adaptations to his home early on and has been learning to use an eye gaze tablet before he needs it. 

John has had to make changes to his life as his illness has progressed. He describes a process of “losing activities”, as he can no longer do some of the things he did before. Although leaving the house is becoming more challenging, John plans to continue his holidays, and enjoys visits from friends and family. His partner has taken on a caregiving role, although he also has support from other carers to relieve pressure on her. 

John has taken part in research around MND and has opted to donate his brain after death. He is positive about the potential of new clinical trials around inherited forms of MND, and has been invited to join a C9orf72 trial. John is planning to be assessed for eligibility, although has yet to make a decision on whether he would want to participate due to the time commitment this would involve. He describes taking part in research as a way to contribute to finding a cure.

John emphasises that life with MND can be enjoyable and is positive about the support he has received. He feels technology has improved the lives of people with MND, particularly from when his mother was living with the disease. The availability of assistive technologies is a source of comfort for John when thinking about the future, as he knows he will be able to connect with others and what is going on in the world.

When John’s mother had MND, it was not known that it could be inherited. John’s neurologist told him that this was a possibility when he was diagnosed.

Well, my mother had motor neurone disease and she died 30 years ago, and I saw how it went with her all the way through. And it, the disease in her lasted about three years and at the time it was not thought that MND was hereditary at all. So when I got first symptoms in 2017, I discounted MND as being a cause. And it took nine months before I got a surprise diagnosis, and it was in fact MND. Of course that caused a stir in my family. I have five brothers and sisters and it started them all wondering.

For John, “there’s plenty of life to be enjoyed” whilst living with MND. He is reassured by the technology available to connect with others and the world as the disease progresses.

I think really that… having MND isn’t the end of the world. There’s plenty of life to be enjoyed while you’re going through the process. Okay, so the end stages aren’t that pretty, but most of the lead-in, you can live your life. And with technology, particularly with eye gaze tablets, you can stay in touch, you have machines speak for you, it’s, that’s where the difference with my mother is really pronounced. I was, I’ve been loaned an eye gaze tablet, I’ve been practicing using it so if I can’t type in a keyboard or tap at an iPad, I can talk through a computer, watch films, read the news just with my eyes, which makes later stages less of a big issue.

Having seen his mum living with MND, John started organising adaptations to his home soon after he was diagnosed. His approach is to stay “ahead of the game”.

That’s really the way I’m tackling this, is to try and stay one or two steps ahead of the game. If you don’t do that, you inevitably run into crises. I heard about one friend who was stuck upstairs for so many weeks because they hadn’t started the lift early enough. And on the forum, you constantly read about people who run into roadblocks, perhaps through denial, not wanting to face up to the disease. When you’ve had a mother go through it, you can’t really hide. There’s no point in trying to deny it. Quite the opposite.

Having seen his sister care for his mum, John knew it was too much for one person. He now has professional carers to help take pressure off his partner.

You said earlier about your partner providing a lot of care for you.

Yes, and she was keen to do it. But it’s too much for one person, and I was very mindful of my sister’s experience caring for my mother, so we now have two local people who come and help. One of them comes in every weekday morning and helps dress me and sort things around the house. The other does three days – three evenings a week, doing the bedtime routine. All this takes pressure off my partner. We are now looking at employing a home care company to beef up arrangements, initially at weekends. I expect as I get less, less able to help, we’ll need to do more of that. That’s when I expect my main financial outlay to start. And depending on how long I last, I may eat up my capital, and if I do, I get equity release on this house. So I’m pretty sure I can fund my own care for as long as I’m likely to live. 

John’s decision on whether to take part in a clinical trial will be based on the trial design and the time commitment involved. He questions, “Is there something in it for me too?”

So I’ve learnt about clinical trials. You could say they’re a bit heartless but that’s the way they have to be. A proportion of any trial get given a placebo drug, and who knows who that would be. There’s also the issue of whether after the trial they will continue to give you the drug. As far as I can see, in these phase 1 trials, there’s no commitment to do that, which will affect my decision, ultimately, about whether to partake or not. 

So you’re yet to make a decision.

I’ve yet to make a final decision.

That’s interesting

Because it’s a big commitment, lots of trips to [city], both for the trial and for follow-up. And all that is eating into what’s left of a pretty finite life. So I’ve got to ask, is it all me being selfless or is there something in it for me too? At the moment, I’m not convinced that it’s, there’s enough for me in it. But I will go there, in [area of city], have the conversations, be screened, and then I’ll make a decision.