But it was only in the August about five months after I’d been diagnosed, that they referred me to an assisted ventilation consultant who put me on to a ventilator, a non-invasive ventilator. That totally transformed things, more or less immediately. Within a couple of days, my appetite came back, I started putting weight back on again, my energy levels increased. Yeah, it was like being born again, it was wonderful.

And… people have often asked me, “Do you feel angry about my condition?” telling me it’s natural to be angry. Like, I almost felt it was abnormal not to feel angry about my condition, but the one thing I guess I have felt angry about is that my MND consultant didn’t pick up on my, you know, on how useful ventilation could be for me. I remember talking to the assisted ventilation consultant about my symptoms and when I mentioned my difficulty in swimming, which at that time had started the year before, he said, “Oh, that’s an absolutely classic sign of it affecting the breathing muscles, the diaphragm.” So it seems that although obviously in the MND centre, they’d been testing my peak flow and other breathing parameters, but they hadn’t been such as to kind of trigger the consultant’s thoughts that I needed to go on to ventilation. Then, yeah… Well, I understand it’s relatively unusual for one of your presenting symptoms to be an effect on the chest muscles, but in my case it clearly was and had been from very, very early on. So I guess I kind of feel disappointed that I kind of lost that summer of 2019.

Yeah, so basically I filled in an Expression of Wish form which says that, you know, if I do catch Covid, then I don’t want to be admitted to hospital unless there’s a very good chance of my surviving and pulling through. I talked about it with the consultant beforehand, and he – and I guess this was very early on in the pandemic, back in March, before we knew quite so much – but he felt my best chances if I developed Covid were probably, you know, basically to put my ventilator up to the maximum settings and just hope for the best.

What I didn’t want to do was kind of end up in hospital on, you know, for weeks without the ability to kind of say goodbye to my own family, and with no good prospect of coming through. You know, I’d rather if I was going to die, I’d rather do it at home… Luckily, I haven’t needed to act on that so far, but I’m still inclined to respond in the same way. I don’t, you know, the thought of being in hospital with sudden massive progressive organ failure with a cytokine storm, lots of invasive procedures with a relatively low chance of success, it doesn’t appeal to me in the slightest. I’d rather go, if I have to go a few months or a year or two earlier than I’d like to, then I’m willing to kind of take that.

So, you’ve done some kind of thinking around the future and your wishes…

Yeah.

For that kind of thing, yeah.

Yeah. As I say, it’s documented and I sort of keep that in an envelope by my bed, by the ventilator, along with the Do Not Resuscitate forms, so that the medical profession are aware of my wishes. I’ve discussed it also with my brother and my daughter, who are my closest – they’re the kind of nominated family members that the medical profession go to for guidance on this kind of thing, if I was unable to express my own wishes anymore.

I had looked into getting an electric bike, but I couldn’t kind of keep my, well whenever I put my foot down, it was liable to kind of give way and I’d end up on the ground with the bike on top of me. So I got an electric tricycle which, which kind of kept me mobile through the autumn and winter of 2019-20, and then got an electric, an all-terrain mobility scooter, which allows me to kind of, you know, again go considerable distances and up into the hills, and generally get on with doing the things I enjoy, albeit with a certain amount of constraint. 

And I got a mobility vehicle, a Berlingo with a ramp that I could get the tricycle and then the scooter into. So I’ve been able to kind of keep mobile, until September when basically the weakness in my legs developed to the extent that I could no longer handle the ramp and didn’t really feel safe driving the car, either. So I’ve now bought a van with a lift and hand controls, which I’m struggling to get used to. But yeah, in the hope that I will kind of keep mobile for as long as possible, keep getting out there, yeah. But increasingly, it does feel like just having MND and trying to, as I say, keep mobile and independent has almost become a full-time job in itself.

The biggest frustration was that the places I like to go with my, with my electric tricycle, what I really loved to do, I had an engineer friend increase its capability so it could go a bit faster than it was kind of set to do. I loved to take it up the coast and then take it on to the beach at low tide and go whizzing along at 25 miles an hour on the sand, it was just so exhilarating, made me feel really alive. I never found out who – the police or the county council or the local farmers – blocked all the car parks along the coast so you couldn’t get there, you know? It felt so unnecessary, you know?

I mean, you know, given that I don’t have one of the known gene variants, there doesn’t seem to be an awful lot one could do, you know? In the light of that, I have to admit, it has crossed my mind sometimes whether I should have shared the information. But by and large, you know, I’m comfortable with what I did, I feel it was better to kind of have the information out there and for other people to do their own research and draw their own conclusions. But much better that at least the basic information about it being in the family was there.

Prior to the admission to the ward, they hadn’t mentioned MND; they just said they needed to do more tests. But it had already been going through my mind that it might be MND, you know? Having, I suppose as everybody does, you go searching on the internet to try and understand your symptoms as well. And you know, reading about foot-drop and how foot-drop could be, can often be, you know, an initial symptom of MND. It got me wondering, and obviously with my aunt’s history, it started to make me think whether this was what… it was a possible diagnosis, anyway. So it wasn’t, you know, by any means a huge shock when the neurologist said that he was pretty certain it was MND.

My mother, however, who was still alive at that time, did have a neurological condition which hadn’t been, you know, securely diagnosed at that time, but they thought it was some kind of Parkinsonism or possibly … now, the condition is temporarily eluding my, the name of it has kind of gone. The one that makes you fall over backwards. [pause 4 secs] Oh, it’ll come back to me. As I say, we weren’t clear exactly what the condition was, but it was clearly a neurological condition.

Was it progressive supranuclear palsy? Was it that?

That’s the one, PSP, yeah. It was only securely diagnosed after she died, when they did an autopsy and diagnosed it as that.  But we only got the results from that I guess about the beginning of this year. Mum died in May 2019, just a couple of months after I was diagnosed, but it took a while for the autopsy to be done and the results to come back. At that stage, the consultant said although there was no further, you know, known link between MND and PSP, he felt that, again, the chances of there being… because in his experience, PSP was even more unusual a condition than MND. He felt that having, you know, two relatively rare neurological conditions in people so closely related, plus my aunt’s diagnosis, was all far too much to be just coincidence, basically.

Anyway, even before my mother’s diagnosis then, as you might expect, he – because of the link with my aunt – he had referred me for genetic testing to look to see whether I had any of the known gene variants which were linked with MND.  They took some time to come back of course, but by late 2019, he was able to tell me that no, I didn’t have any of the known variants, I was one of the, whatever it is, 30%, 40% of people with familial MND who don’t have a known gene.

If me or any of my offspring or relatives were carrying one of the known gene variants, then you know, in light of the discussions I had with the consultant, then it would be possible to screen embryos of any members of the family choosing to have children thereafter, and then choosing not to go ahead with the pregnancies if the embryos were in fact carrying those gene variations. So, you know, he made it clear that there was a very real chance of wiping out the deleterious gene from the family line, which seemed to be a very worthwhile thing to try and do. Clearly, the starting point had to be whether I was carrying any of those known gene variants, which could then be, other members of the family could then choose to have looked for in their genomes.

My consultant did make it plain that you know, you could be carrying it but not exhibit the symptoms, which is one of the… what’s the term? Penetrance, the penetrance of the disease was very variable. I guess what I concluded from that is that in this particular case, while there might be quite a number of members of our family carrying the genetic variation, it must have pretty low penetrance or else an awful lot more of us would be affected than has proved to be the case so far.