Inherited motor neurone disease (MND)

The first I knew of MND was when my dad’s youngest sister started with motor neurone disease, bulbar motor neurone disease.

We didn’t think anything at that stage about it being in the family, it was just somebody in the family had been affected by motor neurone disease.

She died about two years later, and you just carry-on thinking, “That was really sad, that was quite horrible, quite disturbing to see how quickly the onset was and how quickly she moved, to dying.”

The next thing that happened that we didn’t link to my dad’s youngest sister’s illness at all was my dad’s oldest sister was affected by dementia. We didn’t pay any attention to when the onset was because we didn’t see any link, but she died with dementia. And again, we still didn’t think there was any family connection, we didn’t connect motor neurone disease with dementia, we just thought they were two isolated incidences.

Life ticked along, as it does, and my dad had a fall and again, we thought nothing of it, he was in his 70s, people in their 70s fall. But following on from the fall he started with weakness in his legs and his arms, and it became apparent over testing that he again had got motor neurone disease. So, he was diagnosed with motor neurone disease and his was initially through his arms and his legs, but eventually did get to his speech and swallowing, and my dad died.

At that stage, sort of the cogs start turning and you’re starting thinking, “Well that’s, you know two in the same generation with the same illness, there must be a family connection.” So, I went to my doctor’s and just asked, “Is there a family connection, am I likely to get this? Are any of my relatives likely to get this, my brother, his children?” And at that stage, I think there hadn’t been anything familial specifically identified. All that was known is that there was a family connection and none of, no genetic link or how likely it was. So, I went away with a slight worry in my mind that there was something in the family but there was nothing concrete to tie it to, there’d been no genes identified.

The next thing that happened was my dad’s oldest sister’s daughter was diagnosed with motor neurone disease, and we just thought, “This is odd, she’s the daughter of the sibling who had dementia, how come this is motor neurone disease?” And again, I thought, “There’s something going on here”, and it took a little while to get to the point where her husband got in contact with me and said, “There’s a gene, and it’s C9orf72”, and he explained the 50/50 chance of it being inherited from a parent.

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.

We’ve sort of struggled off and on with trying to get power of attorney and things, but there was a bit of a faux pas with the paperwork, so it never went through, and then by the time… We probably, mum’s got a transient capacity, so it’s getting her at the right time with the right people, that makes that process quite difficult because it’s all got to be done in order, you know, so you can’t sign before I sign and blah, blah, blah.

But in the end, we’ve decided that we don’t really need the health power of attorney, like there’s no real, I don’t think there’s, all the decisions that are getting made medically are in her best interests at heart, the doctors and the nurses and by us, we’re all just acting in her best interests, so. And we’re not going to ever go outside the norm to the point where we need to say like, “No, this is what has to happen”.

The financial power of attorney was the one which would make things easier. Pensions, bank accounts, etc. are all impossible to manage without that.

I’m more worried about - no, not more - I’m as worried about the frontal lobe dementia as I am about the motor neurone disease, because you know, people with motor neurone disease without dementia, I know that there’s the physical disability and inability to speak and stuff, I don’t know. Like is it better that you understand and hopefully by some method of communication can get your thoughts and feeling across?

I think it’s a blessing for my mum, you know, I think - I totally like contradict what I say there, don’t I - but for my mum, I think, awesome. She doesn’t think she’s got it until recently and she’s plodding on with her life as normal. The only, but the problems are for us because she poses a little bit of a risk to herself when she picks up knives and well, she’s fallen over now and broken her wrist so that’s something that my dad’s having to cope with and, well we’re having to cope with.

But I think at least she’s happy just getting on like she would normally, and it’s probably a bit selfish that I want her to be able to not have that so we can like sit and chat about just stuff, you know, like life, love, that sort of thing, by whatever means would assist her to communicate.

But for myself I’m as worried. Wouldn’t it be nice like not to actually know anything about it - or not not know anything about it, but like not be quite so tuned in? But that’s not, I don’t feel like that because I don’t want that to, I don’t want to have any burden on my family.

So I think whilst observing MND and its form is incredibly tragic and it’s incredibly sad to sometimes have to observe and obviously have to cope with knowing that a loved one is having to endure that, FTD seems to take on its own kind of life. I do feel like it’s a bit more overtly scary, but that’s just in my case, you know? The way that my auntie presented was quite odd, and you don’t know what’s going on, you don’t know what they’re thinking, you don’t really know how they’re processing what you’re saying, you don’t know if you can communicate basic things to them. Whereas MND, you do feel like you’re resonating or certainly your words are being received okay, even if they can’t respond or they’re, you know, they’re losing track of thoughts because they’re focussing on their symptoms physically.

So, I think there’s those kinds of differences, but obviously, you know, they can both happen at the same time or concurrently. So, thinking about that, although I haven’t known a relative [knocks on the table] who’s had that, thinking about possibly developing FTD and MND combined is obviously, given the aforementioned, quite intimidating and again, very overwhelming to think that that could possibly happen comorbidly.