Alison

Age at interview: 63

Age at diagnosis: 55

Brief Outline:

Alison is 63 and is married with two adult children. Before she retired due to health reasons, she worked as a nurse practitioner. Ethnicity: White British.

Alison was diagnosed with MND in 2012. Due to her family history, she was tested for the C9orf72 gene variant, which came back negative. Alison questions why she wasn’t offered further genetic testing, which may provide useful information for relatives.

More about me...

Alison was diagnosed with MND in 2012, after noticing muscle wastage in her hand. Having looked up her symptoms, she had already considered a diagnosis of MND, though had hoped this would not be the case. She was grateful to receive a diagnosis within 6 months, as she maintains that it is much easier to cope when you know what you’re coping with.

The possibility of Alison’s illness being inherited came to light when she told her consultant about her family history. Her mother had died of frontotemporal dementia (FTD), which her consultant explained could be connected. Looking back, she also thinks that her mother’s uncle had MND, though she didn’t know this at the time. Alison had a session with a genetic counsellor, which was helpful in organising her thoughts. She opted to have genetic testing to try and understand whether other family members could be affected. She was tested for the C9orf72 gene variant, which came back negative. 

Alison was not given further genetic testing, a decision she is planning to raise with her consultant, as she feels this should have been offered. Although she finds it hard to think that her children and grandchildren could be affected, she believes that finding out whether the disease is inherited is the best thing she could do for them. She would like to be able to give them information to make their own decisions around genetic testing and starting families of their own. Whilst Alison has been open in discussing MND with her relatives, until she has more concrete information, there isn’t really much she can share.

After her diagnosis, Alison took the approach of focusing on the “here and now”. She and her husband bought a caravan, so they could travel without worrying about the suitability of holiday accommodation. She was grateful to have a supportive employer and arranged to work reduced and flexible hours. She was able to work in the clinic only, rather than doing home visits, and make use of the Access to Work transport scheme. This allowed her to continue to work for 5 years after diagnosis, which Alison valued. Since retiring, she has enjoyed doing voluntary work, including for a charity supporting people with lifelong conditions. 

Living through the pandemic has impacted Alison in several ways. Hospice services such as day respite have been stopped, and appointments with the physiotherapist and MND clinic are being done remotely. She has been frustrated by how members of the public are not always considerate of social distancing measures, which makes going out difficult. 

Alison has used support groups in-person and virtually, which she finds have both benefits and drawbacks. She is also a member of a MND research advisory group, which offers a great opportunity to ask questions. She would be willing to take part in research herself, but emphasises practical aspects like the time required. Allison highlights the importance of good and sensitive communication between healthcare professionals and patients. Patients should be seen as whole people, beyond their diagnoses, and the family context should also be considered. Alison encourages other families affected by MND to communicate; even if relatives take different approaches, talking is “always good”.

When she was diagnosed with MND, Alison was told that she could also get frontotemporal dementia, from which her mum had died. The way she was told made a difficult diagnosis “a lot harder to take”.

When did that kind of realisation come that maybe this was something that was not just sporadic?

Well, I think with my MND consultant’s assertion that she thought when we were going through family history and I was telling her about mum’s dementia, and she was on to that straightaway. And I suppose I went home and thought about it a bit and thought, you know, what about my great uncle? Do you know, I can remember, because his decline was so rapid and he worked for what was then British Railways, as my grandfather did, and the quick-fix solution to an accessible property in those days was an old railway carriage. You know, like a little bungalow, really, you know, all converted and what-not. That was the quick-fix solution to his mobility problems.

I had no inkling about the link of frontotemporal dementia with MND, I just hadn’t thought about it. But when my consultant mentioned it as a link, cogs started to click around.

She’s delivering a diagnosis of MND, and then effectively she’s saying to me, “Oh, yes, and you might have frontotemporal dementia like your mum as well, you could get, you know, both,” you know [laughs]? And I’m thinking, “Oh, god, great.” You know? It was as if she had blinkers on and it was the pure science of the situation was all she could see, she couldn’t see any further than that. It makes a very difficult diagnosis a lot, lot harder to take.

When she was diagnosed with MND, Alison was only tested for the C9orf72 gene variant. She feels she should be offered further genetic testing, which could provide information for her grandchildren.

The possibilities of further genetic testing, because it would be useful. We’ve got three grandchildren now and we could have that information for them, you know?  At the sort of age when they want it. I must admit, my daughters were… when I told them that I was going to be tested for C9orf, both of them sort of said, “Well, we’ll think about it, we’ll let you know if we want to know what the outcome is,” which I think is, you know, an understandable response. But I think if people have got that information at a younger age, from a step back, from a distance, if you like, I think it would be nice for my grandchildren to know what the situation is.

But nobody thinks to volunteer, I think clinics are under such pressure that nobody thinks to go, “Oh, look, you were only tested for the one genotype, we’ve got…” I don’t know how many we’re up to now, 19 I think when I last looked. Some of them associated with frontotemporal dementia, some of them not. So and certainly my great uncle, his presentation was not with frontotemporal dementia, it was more like an ALS, like me.

We need to know that there’s something useful to be gained by knowing, really. And I think what’s useful for them to be gained, is for their children to know and to be able to take a decision on whether, in the fullness of time, they choose to have children of their own or not. That’s really as far as it goes.

I’m certainly… I look upon it as one of the few constructive things that I could do now, really, for them, is to sort of stamp my foot a bit and say, you know, “Test me for all the known genotypes,” really. I’d rather they had that information. That does mean that obviously, I’m not going to just go and tell five year olds and seven year olds, I would need to discuss it with their parents and that means that their parents would need to be accepting of that information. But I think in the interests of research, it would be useful information as well, you know? I really do.

Alison was understanding when her daughters didn’t want to know the results of her genetic test. She would keep this in mind if having further genetic testing.

My concern was whether they were just taking on board the diagnosis that mum’s got MND, whether they would actually want that information. And certainly at first, when I first said, “Well, I’m going to be tested for this”, and they said, “Well, at the moment we don’t actually want to know the results.” And I can, you know, a measure of me can understand that because it’s pretty scary information. But when I had the test and the test showed that I didn’t have the gene that I was tested for, it seemed logical to give them, in a way, the good news, in that at least we know we can cross that one off the list. I know I haven’t got this one and that’s the only one. But I must admit, for the sake of my grandchildren… in fact, interestingly, I’ve got a remote MND clinic appointment on the 22nd, so there’s my opportunity to say to my consultant, “What’s the reasoning behind not doing any further genetic testing?” Because I think, you know, the youngest generation are here now, three of them, but I think in the future when they’re adults, my grandchildren would probably rather know.

Moving to part time and annualised hours gave Alison more free time and flexibility. She appreciated the support of her employers, which enabled her to work for 5 years after her diagnosis.

Yeah, it’s I was – I mean, basically we decided, as I think several people living with MND who I’ve met, you very quickly assimilate the attitude of, “It’s here and now,” most of your opportunities, because, you know, you don’t know what’s around the corner. And so my reaction… fortunately, I was in a situation where I was actually working in a GP out of hours service by now, so for quite a large employer, so an employer who had significant flexibility. They were very good, they were very understanding when I went and said, “First of all, I’d like to reduce my working hours,” but the other thing they agreed to was annualised hours, which was absolutely brilliant for me. Because it meant that we could… I could take big chunks of time off, basically I just told my manager when I wasn’t going to be available for work, told her when we were back, and I could stack up the hours a bit when we were back.

They also allowed me just to work at the main base, in other words, I didn’t have to go out and do any visits, because doing visits, you’re carrying equipment into houses, up however many steps and stuff. Obviously, that wasn’t going to work so because of that, I was actually able to continue working for five years after I was diagnosed, which was good on all counts, really, because I enjoyed my work, I enjoyed, you know, interaction between work colleagues and so on. You feel useful, I suppose. And to be blunt, I could earn some money while my husband was unable to because he’d had to finish work.

So I mean, that sums up our reaction, really, was, “Let’s get on with living life now.” We talk about – what happened was we brought our retirement forward, if you like, which we were very fortunate to be able to do. Not everybody is in a position to be able to afford to do that, and that must be horrible.

Alison has Marfan syndrome and suffers with pain. She felt her consultant couldn’t see “the whole patient” when she tried to talk about her experiences.

I mean, I can remember her saying to me as a side issue, I get a lot of pain because the other side of the family, basically we’ve got Marfan Syndrome, the other side of the family. My dad was 6ft7 and I’m very tall, I have the joint hypermobility as my siblings do. So, if and subsequently, both my father and my brother have died of a ruptured aortic aneurism, so it’s definitely Marfan Syndrome. So you add in the joint hypermobility and the muscle weakness that goes with Marfan’s and MND, which means you’re losing muscle so you’re putting more strain on the muscles that you’ve got, and that adds up to pain. So I began to try to talk to her about the pain I was in and she just said, “MND is not painful.” And I’m sorry, that is again, that’s blinkers on. That’s going, “MND affects motor neurones only; it doesn’t affect sensory neurones.” That’s what she was saying.

But subsequently, I know, you know, several people with MND who I’ve met through the association who have a lot of pain. Because, you know, as you’re losing muscle, you’re sitting maybe in a lopsided position or something, you know, your head’s not on straight and it can be painful. And that’s without the joint hypermobility and tall stature that goes with Marfan’s. And she just sat there and said, “No, you don’t get… it’s nothing to do with it.” How can you say that to somebody? You’ve got to look at the whole patient.

Being on an MND research advisory group is a “two-way street”. Alison values the opportunity to connect with others and ask questions.

I’m fortunate in that I am on a motor neurone disease research advisory group. Certainly when I started as a new member of that group, it was the only motor neurone disease research advisory group in the country. And so we have quite a lot of researchers coming into the group and presenting their research, and that’s a great opportunity to ask questions, it really is. I mean, that’s how I first met the guy who is my consultant now, he came into the group to present his research. So it is a great opportunity to ask questions. It’s sometimes better than a consultation [laughs].

So, I’ve got that facility as well, and the fact that I’m going to the group – it’s remote meetings now, unfortunately. Although I say unfortunately, I don’t know why you know, remote meetings- particularly as there are now, I think, four people on the group living with motor neurone disease - it makes sense even if they’re meeting. You know, somebody can be a remote addition to the group, or the whole group can meet remotely. And if it means it happens regularly, then I think that would be a good thing to do. But it’s a great source of information, so it’s definitely a two-way street.