Hugh

Age at interview: 66

Age at diagnosis: 64

Brief Outline:

Hugh is 66 and before he retired, worked as an Ecologist. He has two adult children aged 29 and 35 and is widowed. Ethnicity: White British

Hugh was diagnosed with MND aged 64. Because his aunt had also been affected, he had genetic testing, which failed to identify a gene variant associated with MND. Hugh’s focus now is on making the most of life and finding ways to access the outdoors.

More about me...

Hugh realised something was wrong when he started to find exercise difficult. At first, he put it down to getting older, but over the next few months he felt like his legs weren’t working properly, and he was also losing weight quickly. He was referred for further investigations and diagnosed with MND. For Hugh, this was not a shock; he had done his own research online. Because his aunt had had MND, his neurologist said that his condition was likely familial. At the time, Hugh’s mum was experiencing neurological symptoms, which since her death have been diagnosed as progressive supranuclear palsy (PSP). There are questions over whether this could be linked to his condition.

Hugh’s neurologist discussed with him the possibility of genetic testing. Hugh was keen to pursue this, in order to provide information to his relatives. Receiving the results took some time, but did not find a gene variant associated with MND. Hugh was disappointed; he felt that knowing could have given the younger members of his family the opportunity to consider reproductive options, potentially preventing the disease in future generations.

Prior to his diagnosis, Hugh was looking forward to a long and active retirement. He had planned to achieve goals that he hadn’t gotten around to in his professional life, such as writing books and papers. However, his priorities have now shifted to focus on how he can make the most of the time he has left and have as many experiences as possible. Early on in the disease, Hugh’s low appetite and energy prevented him from making the most of his mobility. He was eventually put on non-invasive ventilation, which led to an immediate improvement - something he describes as like “being born again”. Hugh feels disappointed that this was not suggested sooner as something that could benefit him. 

As a lifelong naturalist, Hugh tries to keep mobile and independent, in order to do the things he enjoys for longer. He has found it challenging to find information on the mobility options available for people who want to be a bit more “adventurous” in terms of accessing the outdoors. He has tried different aids and vehicles, at a significant financial cost. He has bought an electric trike, an all-terrain wheelchair and an off-road mobility scooter, and is having a motorhome made and adapted, meaning he would be able to travel without relying on hotels and restaurants. However, putting in place such adaptations is a “race against time”, as his needs change rapidly. Hugh also has concerns around the long-term cost of his care, and the impact of this on being able to provide for his children in the future.

Living through the pandemic has been frustrating for Hugh. He has been unable to do the things he had hoped to do, such as travelling and spending time with friends and relatives. Hugh has thought more about his future care and has put in place an expression of wishes and a do not resuscitate order. He is reassured to know that there are palliative options available to make his end of life and death more comfortable.

Hugh has looked into research around MND, but due to practical reasons, has not pursued getting involved in trials. From his experiences, he would like to see better coordination between different departments. However, he is grateful for the support of his Macmillan team, who act as a link between other services. Hugh emphasises that GPs should be given information on inherited forms of MND, so as to best support their patients.

Hugh’s consultant told him that not everyone who carries a gene variant associated with MND will develop symptoms. This could be one reason why more family members haven’t been affected.

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.

Being diagnosed with MND “wasn’t a huge shock” to Hugh; his maternal aunt had died of MND and his mum was diagnosed with another neurological condition shortly afterwards.

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.

After being told about options to prevent inherited MND in future generations, Hugh decided that having genetic testing was a worthwhile thing to do.

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.

Whilst he has questioned whether he did the right thing in telling his family that he may have an inherited form of MND, Hugh feels it is better to “have the information out there”.

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.

As his needs have changed, Hugh has bought an electric trike, an all-terrain wheelchair and an off-road mobility scooter, which enable him to enjoy the coast and countryside.

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?

Hugh feels angry that he was not recommended earlier for non-invasive ventilation. This meant he was unable to make the most of the time when he was still mobile.

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.

Hugh has written an expression of wishes and a do-not-resuscitate order. He has discussed this with relatives, so they are aware of what he wants.

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.