Well it was about three years ago, it was, in fact it was in November and I noticed I had these fasciculations in my leg, which is like twitching in the leg muscles. And that’s the first thing that I thought was wrong. But I didn’t think that I had motor neurone disease then. So I didn’t do much about them for about a month because I was just kind of hoping that they would sort of go away and I did look on the Internet to find out about them and you know, that’s when I first thought that I might have got motor neurone disease. But also on the Internet it said that a lot of people have the twitching and it doesn’t mean they’ve got motor neurone disease.

So after they didn’t go away I went to the GP and the GP examined me and then he said that it was nothing to worry about and but I was still worried about it, about it, so I went back again. This was kind of over Christmas and I said I was really worried and he said he would phone up a neurologist and ask him.

So then he got back to me and he said he’d spoke to the neurologist and the neurologist had said there was like a 99% chance that I didn’t have motor neurone disease. So I was very relieved then. But he did say that he’d make an appointment for me to see the neurologist. And that took through to about April and then I saw the neurologist in April and he, obviously he thought then that I did have motor neurone disease, when, when the neurologist saw me. Because I asked him and in fact we, we went outside and my wife said, ‘Why don’t you go in and ask him?’ Because she knew I was worried about it and she thought he’d say I haven’t got it. So I went in and asked him and he said, ‘Well, yeah. You might, you might well have.

So, so then we well, it’s not confirmed because it’s a difficult disease to actually definitely diagnose. So nobody’s ever just going to say you’ve definitely got it. So you then have to like get further tests and things. So then I had a test called an EMG, where they sort of put needles into your muscles and they try and see if your nerves are working OK. And then they sent the results of the EMG to a consultant. And then we went into the hospital sort of mid- to late April and that’s when they told me that I’ve got motor neurone disease.

So I think compared to most, most people that’s quite a quick diagnosis because I only, only went to the GP at Christmas and then my the middle of April I knew that I’d got motor neurone disease. Where for some people it’s like three years or something before they actually find out.

I first noticed it probably eighteen months to two years before I was diagnosed. And what it was, I started to lose feeling in my legs if I did exercise. If I walked for a reasonable period or length then my legs would start to go numb. And at that time I smoked. So I went to the doctor’s and the usual thing happened, ‘Oh, you’re a smoker. So it’s, you know, your arteries are furring up and seizing up. So they sent me to see a specialist who dealt with that area. And of course the National Health being the National Health, it was four months to get an appointment, and then four months to have some tests done, and then another three months before he saw me to say what the test results were. So it was virtually a year to find out there was nothing wrong with me in terms of that side of my physiology. And what happened then was, I was out working and I fell over my foot, because it, I limped a little bit, and I fell over my foot and broke my rib. And went to see my GP after I’d been to the hospital with it, because obviously I couldn’t work, and explained what had gone on before. And he said, ‘Well, how did you do it?’ And I told him. And he said, ‘Oh, that’s nothing to do with that. That’s neurological. I’ll get you to see a neurologist. So he sent me to see a specialist in that field. And again it was the normal sequence of timings et cetera, and they then carried out some tests on me. And of course motor neurone is not testable. What they test for is everything that they can cure. And what you’re left with, if they can’t find anything there, is motor neurone. So we went through all the tests. I went in and had a scan done. They then did what I call the torture chamber, which is where they put electric needles in and what have you to see what your muscles responses are and so on. They did that again to me to finalise it. At that point I think they were fairly certain that it was motor neurone.

Well as I said because my job, my profession’s an occupational therapist. I know quite in depth the symptoms and signs of motor neurone and because I was treating three patients of my own with MND, I straight away thought it was motor neurone disease. But like many other people you always think that, you’re just thinking the worst and it’s human nature and it could possibly be something else. But I didn’t really actually fit the average age bracket which is normally men sort of 55, 50 plus. So obviously I wasn’t really in that bracket at all. And then nurse friends of mine that, who I worked with on the ward were saying that I could possibly just have a trapped nerve in my spine or it could be other past medical history problems that I had. That it could be an exaggeration of those but unfortunately my primary diagnosis of myself was correct.

Can you tell me how you felt when they told that?

Well, I did have an inkling but you never want to think it is that. And I’d already told the consultant in the hospital when I was in to have my tests that I thought I had MND. And when he came around unfortunately he confirmed it was. And that’s still very emotional for me now. It’s very, very hard. It’s hard for the family and hard for you.

Perhaps you can tell me a bit about the tests that you had and what they were like?

Right. First of all I had bloods done which is the normal course for everything that they test you for. And then I had an MRI scan. I mean it was a full body MRI scan sort of for my brain and for my spine to see if they could see anything on there. From there on then I had what they call an EMG which was testing my muscles and how quickly the nerve pathways would go, reaching my muscles and also if there was any muscle loss. And I had a lumbar, a lumbar X-ray as well, spinal X-ray and it was really the EMG that was quite conclusive because there was signs of muscle wastage and slowness in the nerve pathways. I also had a lumbar puncture and again the sort of that all concluded, all the tests, that I did have those it was most probably MND then.

And the time it took to took, to have those tests?

Right. I was advised by my consultant to go in as an inpatient and be admitted because it would be far quicker to be seen than if I waited as an outpatient because I’d have to go on a long waiting list. So basically I just went into hospital and whenever they had a gap to squeeze me in they squeezed me in. So I was in hospital for about roughly two weeks and I was diagnosed at the end of that time as well.

And over Christmas, which was just after Christmas, I had to go to see the specialist, over Christmas. I think my wife thought it was MND. How, I don’t know. I thought, well, I might have something, MS, Parkinson’s, some neurological condition. It didn’t seem like a trapped nerve. Anyway I went in the January. They examined me. They said, ‘You’ve got to come back in to hospital for full tests,’ which was in the March. And I went through the full gamut of tests.

Most of the tests are done to eliminate other possibilities. So you get a lumbar puncture, which I suppose eliminates the possibilities of other cerebral or spinal problems. But nobody with MND needs the lumbar puncture. It’s just to eliminate. I was lucky. I was the only person in my ward who didn’t have a stinking headache for 24 hours afterwards. They said, ‘Drink the water. They brought me sort of school jugs of water – I don’t know, a litre and half of water – and they said, ‘You’ve got to drink two of these in the next hour, and you’re not allowed to move,’ which is one of those impossibilities, because if you drink three litres of water you certainly need to go to the lavatory. Anyway I did, and I was the only person who didn’t seem to have a headache.

The tests are the standard tests. They put little electric probes into you. Some of them are passive and they read the electrical connections, I suppose. The others are active and make various bits of your anatomy twitch, mostly in the legs. It’s very disconcerting because you’re sitting there and suddenly your leg jumps. And there’s no logic to which way it goes, either. It’s a bit like starting a steam engine, you don’t know whether it will go backwards or forwards. And you get also an MRI scan, which I suppose is to eliminate other things.

Anyway, so the diagnosis was straightforward. I was one of the ones for whom there was no question. I had ALS and it was standard. My readouts showed all the standard features.

I first suspected there was something wrong in the beginning of 2003. I was a very keen dancer, Scottish dancing, Scottish country dancing, and I found that as I got to the end of a dance I couldn’t quite make it. I was having to scurry around, and I couldn’t jump up and down in the bouncy way you’re supposed to do it. And I found this was getting worse. I also found that when I was doing yoga, I couldn’t support myself on my arms to do the cobra and things like that. And when I was walking, I used to be a very fast walker, and I found that my feet were flopping as I was walking along. I couldn’t understand what was happening. I thought perhaps it was just my age. It might have been the menopause, something like that. But as it didn’t seem to be getting any better, I went to my GP eventually. Partly because I’d read in a novel about somebody who had motor neurone disease and I thought, ‘Oh, God, this might be it. So she took lots of blood tests and they took a while to come back. And I had to go and see her again, and she said the blood tests hadn’t shown anything. So she thought she’d refer me to a neurologist. She thought I might have something called myasthenia gravis. So she just gave me that as an idea to start with, which put me off the idea of thinking I’d got motor neurone disease.

So I then had to wait about four months before I saw a neurologist, which was a bit nerve-wracking really, because I didn’t know what was wrong with me and I could tell that things were going slightly downhill. Then I saw a general neurologist at the local hospital and he put me through all the tests. And he said he wasn’t sure what it was and he would like to have a second opinion and he would make an appointment for me to go to the main hospital in the region, where there was a specialist in the, whatever he thought it was, which he wasn’t telling me. And I’d have to wait to see her. So I went home and I immediately went to the computer and looked up motor neurone disease. And from the way he’d been testing me, I decided that was what I must have. So I didn’t feel too happy about it, but I just had to wait then, you see.

So again it took another three months before I got to see the specialist. And I was actually admitted to hospital for three days while they did all sorts of tests on me. They put me all round the hospital, they X-rayed me. They ran the electric currents through me. They measured my breath and everything like that. And then the Prof. came and examined me herself, after I’d been examined by whole teams of medical students and things like that. And her conclusion was that I might have another complaint, which she proposed to try treating with gamma globulin or immunoglobulin, or something like that, or I might have motor neurone disease, but an unusual kind of it. So I went into hospital for a few more days to have treatment with this globulin treatment. That did no good.

So in January I went back and she decided that what she thought I must have was a fairly unusual form of motor neurone disease, which she called progressive muscular atrophy. And I then had to start visiting the hospital every two or three months for check-ups. And so they did all my motor neurone scores and things. They tested all the muscles and took my weight and things like that.

And then that week I went to see the GP, who said, tested me and said, ‘Well, you’ve got a bit of a weakness in your left leg’, which I think was an understatement [laughs], and referred me to a neurologist. Well, I went to see the neurologist, who just kept looking at me. And at the time I thought, ‘Why does he keep looking at me?’ He sort of sat and looked at my back and looked at – and I thought, ‘What is he doing?’ Well, obviously once you get a diagnosis of MND you realise he was looking for fasciculations. Why he didn’t tell me that I don’t know, and I, I, you know, it was a very scary situation. So he did all the sort of MS tests, asked me about my bladder, my bowel, my breathing, my swallowing, my – so obviously MND tests as well, and thoroughly examined me, asked me to walk across the room, then asked me to stand on my heels. Well, I couldn’t. And I thought, ‘Oh, that’s a bit weird. I’d never tried it. I did know that I couldn’t jump, because again retrospectively, I look back at things that I couldn’t do, and now I realise why I couldn’t do them. But at the time I just thought I was getting old, even though I was only 49. And he said, ‘Stand here,’ and I said, ‘Oh, I can’t. And so he said, ‘Okay. Sit down. And he was terribly austere [moves out of camera shot briefly] and he said, ‘Well,’ he said, ‘I, you have a thing called bilateral foot drop. And I said, ‘Well, what on earth is that?’ And having been in the pharmaceutical industry my whole life, I just had no idea what he was talking about. So you can, you know, know a lot of information but not know everything. And he said, ‘Well, basically you lift your foot up and, and it doesn’t lift up properly, and your foot drops and that’s why you trip over. So I was absolutely terrified. I thought I had MS. And I came straight home, I was on the Internet looking up all the symptoms of MS. And then he sent me for a scan, an MRI, and the MRI showed up this cyst on my spinal cord. And he said, ‘Oh, look, this is what we’ve found. This is a cyst on your spinal cord, and we think this is causing the damage. So obviously I’m immediately, ‘Oh, can you do anything about it?’ ‘Well, yes, hopefully. We can’t guarantee you’ll get back to what you were before, but we can at least stop any sort of progression of the problem. So he referred me to a neurosurgeon, and the neurosurgeon said, ‘Yes, I can operate. We can either remove the cyst or reduce the size of it. So in the December I had a massive open spinal cord operation, which was the worst experience of my entire life. I lost a stone in weight in a week, and it was absolutely horrific. And I eventually got over that and started rehabilitating. But of course over the next twelve months my condition worsened.

Did it make it any better, having the operation?

No, no. Obviously I had to get over the operation, so, you know, that I classed as my rehabilitation. And at the end of the rehabilitation I was no better, and I was just gradually getting worse. And funnily enough I bumped into my neurology consultant when I was interviewing another consultant at a hospital, and I had a stick at that point, and he said, ‘Oh, I’m quite surprised to see you in that condition. And I said, ‘Yeah,’ I said, ‘this has just gradually been getting worse. And he said, ‘Well, come and see me again. So I went to see him again. He referred me back to the neurosurgeon, who did another MRI and started talking about my spinal cord being thin in places. Which again absolutely terrified me, and I was in tears. And this went on for another, oh, eight months. And then I had several EMGs. And then eventually I had an EMG in the June, and the consultant there wasn’t terribly talkative. And I went back to see the neurologist in the July, the day before we got the Olympic Games for 2012, I remember it distinctly. And he sat me down and said,Do you remember when I first saw you, we talked about premature ageing of the motor neurones? And of course immediately the jigsaw fell into place and I said, Are you going to tell me I’ve got motor neurone disease? And he just started rambling on, and I said, Are you going to tell me I’ve got motor neurone disease? And he said, Yes. And his immediate next statement was, But I don’t want you to go shopping around for second opinions. Quite. So I [laughs], I said, Well, actually I do want to go shopping around for a second opinion, at least one, thank you. So he gave me the names of a couple of people.

The only thing really is, is the business of what happens in the interim between somebody knowing you’ve got a neurological problem to getting the actual definitive diagnosis. I, I think, I think the way it was handled with me was poor. And I think neurologists have to understand that if you even suspect motor neurone disease – I know it’s like saying to somebody, ‘Oh, you’ve got something or other, it could be cancer, but it might not be. I know you can’t really say that, and you can’t say, ‘Oh, it could be motor neurone disease, but it might not be. But the doctor saying to me, ‘Oh, premature ageing of the motor neurones. Well, what a stupid thing to say. You know, because it’s pretty obvious that an intelligent person like me is going to think, ‘Well, I might have motor neurone disease. You’ve got to talk to people about it and say that, you know, ‘These things take a long time to diagnose. It could well be a possibility. You have to sort of be prepared mentally for that possible diagnosis. Knowing that it takes so long to diagnose and knowing that the sort of things that led up to it are the, the sort of symptoms that could mean it, I think you have to let people know. And the fact that I didn’t know for so long I, I feel is really quite unfair. And the fact that they left me alone. No follow-up. You know, I was, I was given the operation, I had a follow-up MRI, and then it was, ‘Goodbye. Not, ‘Come back in six months to see how you’re getting on’ or anything. It was, ‘Goodbye. And it was this chance meeting in a hospital that made me actually go back to him. Otherwise I just don’t know where I’d be now, I really don’t.

I was diagnosed with Motor Neurone Disease in April 2000 whilst 7 months pregnant with my second child. My only apparent symptoms were slightly slurred speech, weakness and muscle wasting in my left arm; they appeared suddenly in February that year and I thought perhaps I’d had a mini stroke. Looking back I’ve realised that my very first symptom, emotional lability, started around April 1999. I would laugh or cry excessively and inappropriately and it bewildered and disturbed me because I couldn’t work out why it was happening.

I mentioned my symptoms to a doctor during an ante-natal check up. He referred me to a neurologist and I waited from February until April 2000 for an appointment. Considering I was pregnant I think a two month wait was unacceptable although in my case it didn’t make any difference because my form of MND isn’t hereditary. I do worry about my children developing it, although there’s no history of it in my family, but what if I’m the first? And if I was told it was hereditary I wouldn’t have had the option of aborting because I was kept waiting (although I’m thankful I didn’t have to consider abortion). I only received an appointment after numerous phone calls and was then told I’d been lost in the system and there was a long waiting list.

My appointment, when April came around, was impersonal and cold. My neurologist recognised my symptoms immediately I later discovered and booked me into hospital for tests that same week. She wouldn’t tell me why but I knew it must be serious from her haste. I burst into tears after leaving her office; that was the emotional lability, I’m sure.

I had several tests including a lumbar puncture, EMGs, brain scans and answered numerous questions from doctors. They gave nothing away although I fired questions at all of them. I’m plagued by their lack of honesty now; I function far better when I know the truth and by keeping me in limbo they actually tortured me. I’m aware they were trying to protect a young pregnant woman but surely honesty is imperative in a situation such as this? I know they couldn’t diagnose me without running all the tests but if I was told what they were testing me for they would have empowered me with choice. I could have chosen whether to have a lumbar puncture which left me flat on my back for two days or whether to have two sets of extremely painful electrical muscle tests because they botched the first set.

Because it was a teaching hospital, when asked I’d also agreed to take part in a session where doctors from other hospitals would observe me. I walked into a sizeable lecture theatre with about 40 people sitting in the audience which I wasn’t expecting at all. After an examination they started shooting questions at me and my response was to just deny everything! I now think that was an insensitive situation to put me through knowing almost certainly what was wrong with me.

Ann: Well, the, the first lot, set of investigations were locally, and that required an MRI scan and blood tests and reflex tests. And really – and that was done on a daily basis. We had to go several times to the hospital. But obviously when we went for London, to London – and that, and they were just the, they were the same set of tests, which was very reassuring to think that, that the second tests, set of tests had the same results, so nothing could actually slip through on a local front. And they were the same. But you stayed in hospital for that, didn’t you?

Peter: Yeah.

Ann: But, and that was that. I mean, we were told he hadn’t got full-blown motor neurone. He didn’t, and we decided to come home and get on with it.

Was that the point at which you were told it might be primary lateral sclerosis? Or when did that happen?

Ann: That, that, I think that, that was a little later. In, in that when, when we went to see – because we did continue to see our local neurologist, didn’t we? [R1: yeah]. And I think as it progressed a little, that’s when the PLS came up [R1: yeah], wasn’t it?

So up till that point you were carrying on thinking it wasn’t

Ann: Motor neurone.

motor neurone. You just didn’t know?

Ann: And we just didn’t know what it was. It was a neurological disorder that they really didn’t understand, and didn’t know.

Peter: [starts writing]

Is there something Peter wants to add?

Ann: Yes, [reading] not, nothing – oh, and they said there was nothing left that they could do.

OK.

Ann: That was it really. And it was, Go, go home and see how you get on. And that’s how it was, wasn’t it?

Peter: Yeah [still writing].

Ann: [reading] Oh, and because they’d done all the tests, that was it, and then – then they called it primary lateral sclerosis, yes. Because that’s what was left. [Peter laughs]. I think they can have tests for other kin-, forms of motor neurone, but not for primary lateral sclerosis. Or that is the one that’s left. So that’s what they call it. That was, yes, that was the impression we got, yes.

Peter: Yeah.

Ann: Now I have to say in all this that probably we were very ignorant. And we also buried our heads in the sand and didn’t want to know.

Peter: Mmm.

Ann: We didn’t want to go and look – I mean, I don’t think we had the Internet then, nine, eight, nine years ago, but we didn’t want to know how bad it was going to be. We just wanted to get on on a day-to-day basis.

Peter: Yeah, yeah.

Ann: That was how we cope, and that’s how we still cope, we – daily, isn’t it?

Peter: Yeah.

Ann: Apart from when we book the holidays [Peter: laughs], which obviously is – so.

So do you remember a, sort of a moment at which you were given a diagnosis of PLS?

Peter: No.

It’s just sort of crept up on you?

Peter: No.

Ann: Yes, yes, it has. Well, do you know, that’s, I can’t specifically remember when.

Peter: [shakes head]

Ann: And you can’t either. No, it’s crept up on us really, you’re quite right. That’s a good, yes, that’s a good way of putting it. We were just, Ah, it’s not motor neurone. That was that. And also, you see, Peter’s condition didn’t deteriorate. Initially it, he det-, his legs and his walking deteriorated very quickly, but he did plateau then for about four years, didn’t you?

Peter: Yeah.

That was by then the Spring, and that led to a series of tests with the referral from the GP to [hospital] and a series of tests that were carried out there which were all the standard tests that would be associated with a nerve problem which had then been identified. So she had lumbar puncture, she had an MRI Scan, she had physical examinations, and that eventually ended up with a diagnosis by the consultant in [city]. And he said it was, It is extremely difficult to diagnose this but I can’t help feeling that it’s motor neurone disease But it’s so uncertain and so rare in someone of Olivia’s age, by then she was twenty-two, that there was, there was considerable doubt and she recommended a second opinion and he referred us to [another city] and the consultant there who we went to see. And that must have been in, by that stage we were through to about July or August of last year, and that meant there had been problems for about a period of probably about six months.

By then Olivia was finding it very difficult to walk. Her left side was starting to not function particularly her leg and so she was using a stick. And she was finding it difficult to go up and down the stairs, and all in all the left leg wasn’t functioning properly. The rest of it was fine but she was beginning to lose a bit of function in her left arm as well. So we went for the second opinion in [city] and the second opinion suggested that it might not be motor neurone disease. It was very difficult to diagnose and that we would need to spend more time to look at it and we arranged that Olivia would go in for a series of tests in [hospital], and she did that and that must have been in August of last year.

She was moving downhill quite rapidly at that stage although none of us knew exactly what the problem was and the difficult one here, and in terms of other people learning from these lessons, is the speed at which the deterioration took place. The original consultant in [city] said he had seen only once, and only peripheral involved, involvement on his part. He had seen another case in a young female of Olivia’s age, but only one in his whole career. And so we all hung on to the hope that it probably wasn’t and that there was some other cause and that it might be a whole array of other things and that’s what the tests were for in [the city].

At the end of those tests most of those alternatives had been dismissed as not being possible and so we were left with the thought this was motor neurone disease and that it could deteriorate very quickly. But it was still not distinctly diagnosed as such, and I think that’s the key lesson to learn from this that in circumstances that were similar to Olivia’s, we would hope that the professionals could actually say, Okay, let’s take the worst case, rather than the best case, and deal with it accordingly Because following those tests in [the city] we came back with possible motor neurone disease and therefore there wasn’t a positive steer for the health support team back here in [our county]. We talked to the consultant concerned who was, who was terrific always through this and he actually re-worded a letter, more positively in the sense that it, he said that it is a form of motor neurone, but they didn’t know what it was and how long it would last. But the support team at this end really couldn’t move at the speed that the disease was taking hold.

Well, I guess my first knowledge of motor neurone disease would have been when I was about 19. That was when I discovered, because my mum died when I was 3, but I’d never been told how she died or what it was, and that was when I found out that she’d actually died of motor neurone disease, as had one of my uncles, her brother. And our grandfather had died of what they said at the time was creeping paralysis. And then in 1980 another brother, an uncle, my uncle had, he was diagnosed. And that was when my sister and I, mainly my sister, decided to get in touch with the association, which at the time was probably about a year old, as a, a charity. And all the information that we got then was that there was no way it could be hereditary, that it was coincidence that three members of the family had been hit, and the likelihood of it happening again was very, very slim. So we got on with our lives. And my sister did trace the family tree, couldn’t find anybody else that had died prematurely. So we assumed that that was it, we’d never hear of motor neurone disease again. And then unfortunately in 1992 my sister was diagnosed, by which time I’d already had my two children, and she died in 1994. And then round about 1997 I started having problems with my legs feeling heavy, and by the time I finished work, walking home was a real effort. And at night I had muscle cramps and twitchings. And I was running for the bus one day with the children and my, both knees gave way. And I suddenly started thinking, ‘This, is it not like the symptoms my sister described?’ And I remember phoning her husband up and having a chat to him. And he said, ‘If it is motor neurone disease, you know better than anybody that you need to know sooner rather than later.

So I went along to my GP, who was wonderful. And he straight away said he didn’t think it was, but given the family history he would refer me to a neurologist, who would put my mind at rest. Six months later I went to a neurologist, who said the same as my GP, ‘I don’t think it’s motor neurone disease, because you’re not describing any muscle weakness as such. But he ordered EMG tests. And when I had the tests a letter came that I had to go back to the hospital, and I knew then that it wasn’t good news. He told me it was motor neurone disease and he was very sorry, but he would refer me to another neurologist, who would do another check. So I was referred straight away and she, my neurologist confirmed again that it was motor neurone disease. And I remember saying to her, ‘It’s not. If I hadn’t have told you my family history you would have done more tests. You’re not looking for anything else. And, and, but unfortunately I think I just wanted it to be anything else other than motor neurone disease. Having been a carer, I already knew too much. So, and the initial reaction was that I would have eighteen months and then that would be it. And that was, every other member of my family has gone in such a short time.

But luckily it was in the very, very early stages, probably about two years before someone else with MND would even present. But a lot of that was because of my knowledge of the illness, which had made me go earlier. I mean, a lot of people have said, with it being in the family was I not tempted to just ignore it? And yes, I was. That would have been the easy option. But I also knew that the sooner I was diagnosed, then I could start making the most of the time that I had left, rather than wasting it pretending it isn’t going to happen. Because I think the earlier the diagnosis the better. And I think that having the riluzole so early in the illness could have brought me prolonged life expectancy, as well.