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Motor Neurone Disease (MND)

Path to diagnosis of MND

Diagnosing motor neurone disease is often a difficult and lengthy process. This is for several reasons. Firstly, MND is comparatively rare. Secondly, it affects each person in a different way; there is no definitive symptom which would immediately suggest the diagnosis. In addition, the early symptoms can be quite mild and could be caused by various other conditions. These need to be ruled out before a diagnosis of MND is given, and no simple test exists to diagnose MND. Several people talked about their tests as a 'process of elimination'. Progression of symptoms over time provides evidence to support the diagnosis.

Many of the people we talked to had been experiencing symptoms for months or even years before finally getting a diagnosis. Some lived with their symptoms for a long time before deciding to go to their GP, perhaps putting them down to stress, old age, or injury. (See 'First symptoms of MND'). Most people, once they went to their GP, felt they had been referred promptly to a specialist in neurological conditions. Looking back, some people thought they were lucky to have been diagnosed so quickly. However, not all were referred to a neurologist so quickly.

 

At first his GP reassured him it was nothing to worry about, but referred him to a neurologist....

At first his GP reassured him it was nothing to worry about, but referred him to a neurologist....

Age at interview: 45
Sex: Male
Age at diagnosis: 42
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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.

MND is a rare condition and most GPs will only see one or two people with it in their careers, so they are likely to think first of other conditions or causes for the symptoms. One woman said her GP did not refer her straightaway because he thought she was stressed, which she also thought was a likely explanation. Some said their GP reassured them it was probably nothing serious and took a while to refer them. A few people were referred to a specialist in another area such as ear, nose and throat (ENT) or other specialties.

The MND Association has worked with The Royal College of General Practitioners (RCGP) to assist early diagnosis of MND. Their Red Flag tool is designed to help GP's make accurate referrals and therefore reduce the time to diagnosis (see their website for more details).

 

The first GP he saw assumed his symptoms were smoking-related. After a fall he was referred to a...

The first GP he saw assumed his symptoms were smoking-related. After a fall he was referred to a...

Age at interview: 60
Sex: Male
Age at diagnosis: 59
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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.

Once referred to a neurologist, several tests will be carried out to rule out other conditions (such as multiple sclerosis, spinal muscular atrophy or myasthenia gravis) and look for evidence of MND. Some people were admitted as an inpatient and had these tests within a couple of weeks. Others waited several months between various test appointments.

One important test is EMG (electromyography), which involves using fine needles to record naturally occurring electrical impulses in the nerves. Muscles which have lost their nerve supply as a result of MND show an abnormal pattern. 


Nerve Conduction Tests: may be carried out at the same time as the EMG. An electrical impulse is applied through a small pad on the skin. This measures the speed at which your nerves carry electrical signals.

Transcranial Magnetic Stimulation (TMS): may be carried out at the same time as a nerve conduction test. It is designed to measure the activity of the upper motor neurones. Its findings can help in the diagnostic process.” (MND Association 2017)

 

As an OT she suspected she might have MND. She describes the diagnostic tests, including an EMG,...

As an OT she suspected she might have MND. She describes the diagnostic tests, including an EMG,...

Age at interview: 39
Sex: Female
Age at diagnosis: 38
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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.

Blood tests can detect a substance called creatine kinase in the blood, which is sometimes raised in MND but also in other conditions. MRI (magnetic resonance imaging scan) and lumbar punctures (taking a sample of fluid from the spine) cannot in themselves confirm MND, but may be used to look for other conditions which can mimic the symptoms of MND.

One woman chose not to have MRI because she had had one before and found it 'very scary', and her consultant felt he already had enough information to be pretty sure about the diagnosis. Lumbar puncture is not commonly used, but may be useful for people whose initial symptoms are not typical and who may have a different condition. Some people who had a lumbar puncture had a bad reaction, developing a severe headache afterwards, but one man felt lucky to have avoided this. People felt it was important to get as much information as possible beforehand from clinical staff about what to expect, to help them prepare for the procedure.

 

He had such a bad reaction to the lumbar puncture that his wife called an ambulance. It would...

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He had such a bad reaction to the lumbar puncture that his wife called an ambulance. It would...

Age at interview: 61
Sex: Male
Age at diagnosis: 60
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Jack' I had the lumbar puncture the end of the afternoon on a Friday. And it was a bit hurried. I think it was hurried anyway. And they didn't give me long to rest afterwards before I was kicked out [laughs]. They closed up the shop and it was all a bit untidy, you know. And we eventually went - my wife was with me - we eventually went outside and it was a hot day and I started to feel pretty ropey. And we were in the pub opposite the hospital. 

Mary' We were not drinking. We were waiting for our lift to come along. So we thought it was easier to be picked up there.

Jack' We were sitting outside. Yes. And I really did feel rough, you know. And eventually my son came and he picked us up and brought us home. I didn't feel good at all for the rest of that day or the next day to be honest.

Mary' For the week.

Jack' Well yeah, for the week, I suppose.

Mary' He couldn't sit up because of pains in his head.

Jack' Yeah, pains in my head. They did warn me I might have pain for a couple of days but it went on for the best part of a week. So my wife rang the ambulance and off we went to the hospital and this guy he gave me a good going over. I told him the story that I'd had about three or four days previously I had a lumbar puncture and I was still getting the pain in the back of there. And well, he just more or less said, 'Some people do. You'll be all right.' [laughs]. He was a very young doctor. They all seem to be these days.

Mary' But again if we had been told that my husband could have suffered a week we wouldn't have disturbed the ambulance people. Do you know, we wouldn't have had them out here. But he was so bad on Tuesday, he was in agony.

Jack' But the one that did it was only a young guy, early twenties I reckon. He probably hadn't done many.

Mary' They should have given us more details about what to expect afterwards.

 

He had various tests including a lumbar puncture. He was the only person in the ward not to...

He had various tests including a lumbar puncture. He was the only person in the ward not to...

Age at interview: 60
Sex: Male
Age at diagnosis: 56
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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.

Some people were given intravenous immunoglobulin (IVIG). In some rare diseases of nerves (for example conduction-block neuropathy) the immune system becomes directed against motor nerves and damages them in a way that can at first be hard to distinguish from MND. IVIG can restore the immune system leading to recovery of nerve function. Unfortunately IVIG has no effect on the course of MND. 

 

She saw two neurologists before being diagnosed with PMA. She had a range of tests and treatment...

She saw two neurologists before being diagnosed with PMA. She had a range of tests and treatment...

Age at interview: 58
Sex: Female
Age at diagnosis: 55
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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.

Several people were referred to another neurologist before their diagnosis was confirmed. Not all neurologists are specialists in MND and they may want to ask a colleague for a second opinion. Some people waited several months between appointments. Some chose to get a second opinion, either through the NHS or privately. The frustration and anxiety of waiting for appointments and waiting for a diagnosis could be considerable.

 

He had problems getting referred to neurology and had long waits between appointments. In the end...

He had problems getting referred to neurology and had long waits between appointments. In the end...

Age at interview: 55
Sex: Male
Age at diagnosis: 55
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Yeah, so I seen the neurologist about six months after I see - more, more than that, more than that, it was eight months after I noticed something wrong. He sent me for the test, EM, EMR test and EMG, which was again four months to wait. After that they sent me the letter from the hospital. So I will see the neurologist - I think it was about again five months. I tried to call him. Nobody answered the phone. I left messages on the answerphone. Nobody called me back. I called the hospital. They told me, I asked them if I can see private. They say, 'Yes, tomorrow.' They contacted me with a private neurologist in the same hospital. I make appointment for next day. They say so they will have my results. They have only half of it, without the scan, brain scan. And they then say, the doctor says according to this thing I should be seen by neurologist straight away. He say only half of it, the EMG test. And he make appointment - he haven't charged me any money because he say he cannot charge me because he got only half of my things - and he make appointment with my doctor, the doctor who was supposed to see me within the four or five months, for next morning. And he says, 'So probably this is motor neurone disease.' But he sent me for another MRI of the spine. I wait another four months. After that he say so he will send me to his colleague. I wait another three months because they sent the letter to the wrong address [laughs]. And they say, 'So probably it's motor neurone disease.' But what type, nobody knows. They don't say, at least they don't say nothing.

So how long was it altogether from when you first started thinking something was wrong to getting to this point?

'Over a year, much over a year. One and - nearly one and a half.

But you know, the speed how they work is - I went to Poland in August - September. I'd been waiting for MRI test here of the spine. They give me about four months to wait. I call them, I call, I find in the Internet somewhere, actually it was in the same hospital but a private company, they could do tomorrow, '1200, on same machine which normally they're doing for rest of them. But it's four months waiting. I went to Poland, I spoke to someone. They called to a hospital - it's again private, private, but most of the jobs there were for sort of NHS in Poland. They call them, and they says if I want I can be there tomorrow at 5.00. And it cost 100, sorry, 500, 500 - 500 Polish Zloty, which is 1 to 6, below '100, which cost '1200 here. And we went there. They did the thing. It was about half an hour, 45 minutes. I ask, 'How long we have to wait?''They say, 'So the result will be ready for Monday, because it's Friday evening.'

So that's'

I say, I say, 'So I want to go back to England on Monday.' She said, 'I will talk to them.' And I had Cds, two Cds and the photos and everything within less than one hour. And here, results 5 working days.

Several people thought that doctors had suspected they had MND but had not told them straightaway. Although people realised doctors might be trying to protect them and not make them worry unnecessarily, many felt it would be better if doctors shared their uncertainties more openly with patients.

 

She had lengthy investigations and an operation for a spinal cyst which made no difference....

She had lengthy investigations and an operation for a spinal cyst which made no difference....

Age at interview: 54
Sex: Female
Age at diagnosis: 52
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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.
 

She would prefer doctors to explain that MND is one of the things they are looking for and that the diagnostic process can be long and uncertain.

She would prefer doctors to explain that MND is one of the things they are looking for and that the diagnostic process can be long and uncertain.

Age at interview: 54
Sex: Female
Age at diagnosis: 52
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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.
 
 

She developed symptoms in pregnancy. She believes the neurologist knew at once what was wrong but...

She developed symptoms in pregnancy. She believes the neurologist knew at once what was wrong but...

Age at interview: 41
Sex: Female
Age at diagnosis: 34
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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.

 

For months she had no idea it might be MND. In a way 'blissful ignorance' was good, but she...

For months she had no idea it might be MND. In a way 'blissful ignorance' was good, but she...

Age at interview: 53
Sex: Female
Age at diagnosis: 51
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So in the January, I saw the consultant again, and he still said, 'Could be something or nothing, I don't know. Let's see which way it goes.' I said, 'Oh, OK.' He never mentioned motor neurone, and although I was extensively on the web, and I have got a slightly medical background, my father and stuff, and I do seem to know slightly more about it than a lot of people, somehow or other I missed the connection between the dropped foot and motor neurone, because if I had Googled 'dropped foot' and 'motor neurone' I'm afraid it probably would have said one of the first symptoms. For some reason I missed it, so I never thought about motor neurone. I thought the first symptom of motor neurone - how I could glean this - was something to do with the throat. But I got that wrong. In fact it's often the foot. But, OK, I missed it. So I was in sort of blissful ignorance, and being as by the January I still wasn't much worse, I wasn't that worried. I was a bit, obviously a bit anxious that this, we were now stopping running. I was still going to the gym, I was still doing the swimming, but I, you know, I was still, anxiety was starting to creep in here because we didn't know what it was six months down the road.

But I wasn't too bad. I mean, I could go on norm-, fairly normally, walking. And then January, February, March - in the May the running was all over. And I decided I'd take up walking instead, perhaps join the Ramblers or something. So I joined the Ramblers, and I had two fairly disastrous walks in the May. They were too long, I wasn't up to it. They were both of 10k, and one of them I remember was in the May and it was 10k. Hmm. I got half way round and I was swaying, my balance was going, you see. My balance was going. And I couldn't keep straight. And I still had no stick at this time, and the foot was still a bit funny, and I was like swaying. The balance was, was going. My balance was just not right. I could fall over quite easily for, to the sides, you know?

June, I was due back at neurology, so I didn't worry because my appointment was booked. And I walked in and I said, 'Well I've just been on two walks, you know, 10k, and it's not looking good.' He said, 'Well, you know,' I think he said something like, 'Well that was quite a distance, anyway.' I said, 'OK, all right.' He said 'I don't, I don't know what it is. You were clear on the, clear on the MS. Don't think it's that, you know, because, because' - then he said, 'because MS tends to have a sensory factor, and I'm sticking needles in you and you know where they are. So I think we'll, you know, rule that one out.' I said, 'Well what else could it be?' He said, 'I don't know,' he said, 'could go either way, I don't know.'

He never mentioned motor neurone. In one way, I'm really glad, because I was in blissful ignorance. In another way, I wish he'd said, 'It could go either way - for God's sake start enjoying your life, because if it does go one way, you know, if there's something you want, somewhere you wanted to go, some' - you know, like that. I, I wish he'd said something like, 'Go for it. It could be nothing, but if you've got the burning and you wanted to go on holiday and there's somewhere you wanted to go, go now.' But he didn't. I wish they'd said that, something like that, and just to - you know. Anyway we were, so now we were a year down the road and we still haven't got a diagnosis.

Some people said their neurologist asked them what condition they thought they might have. However, a few felt this was like a 'guessing game' and were upset by it. 

A few people felt they had been given false hope when doctors reassured them it might not be MND or emphasised the uncertainty of the diagnosis. Others were comforted by uncertainty - one woman was pleased when the second consultant she saw said the diagnosis was only 97% certain rather than 100%.

 

One doctor told her husband it might not be MND, so they went home and celebrated with champagne....

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One doctor told her husband it might not be MND, so they went home and celebrated with champagne....

Age at interview: 59
Sex: Female
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And he had many tests and they sent him home and said they would get in touch with us again. And then we went back to our GP and he said it didn't look good. He thought it could be motor neurone.

Your GP told you that?

Yeah, he was the first to tell us. Ok? 

Were you together at that stage?

Yes we were together. He took it exceptionally well. I went to pieces. I went absolutely to pieces.

What did you know about the disease at the time?

All I knew about it that, like this lady who was on TV months before that who wanted to have the right to, you know, to die and things like that. So it was all very negative thoughts in my mind.

Very hard for you.

Yes it was. And.

Did you have any support at that time?

No. No. We just supported each other really. Well he, my husband supported me because he was stronger than I was at that particular time. And we went to the hospital then for some more tests and we went back for the results and this doctor, one of the doctors said well it's not definite, motor neurone disease, which lifted our spirits up no end. She said the tests haven't proved conclusive. So we came home. We had champagne and you know we were so happy. Went back again. She said but I would like him to see someone else. And we did see someone else and we did see someone else very quickly and he went through all the routines with [my husband] and he said I'm sorry but it is motor neurone you've got. Which sent us all, you know, sent me down again into the depths if you like.

One woman who initially suspected she had MND was told it might be spinal muscular atrophy. She felt she would have preferred to have known it was MND straightaway, even though she thought it would have made little difference to how she dealt with it psychologically.

 

She went to a conference on spinal muscular atrophy, thinking this was her diagnosis. A...

She went to a conference on spinal muscular atrophy, thinking this was her diagnosis. A...

Age at interview: 76
Sex: Female
Age at diagnosis: 75
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At that stage my GP said he thought I might have spinal muscular atrophy, SMA, so I then thought, 'Well, perhaps that is it.' And he said, 'It is not as bad as motor neurone.' And so off I went to a conference for SMA, because I thought, 'Well, if I am going to have this, I want to know about it.' So I went off to a conference and there I saw my present neurologist. I had seen another neurologist - yes, I told you that. I saw another neurologist and he said straight away, 'You are at the wrong conference.' And he didn't actually say, 'You have got MND', but he said, 'You are at the wrong conference.' So I wasn't as shattered as I might have been, I suppose, because I think I guessed that.

So then I went to see him and he's absolutely super and he's a specialist in MND, and I went to his again NHS clinic and he saw me and this was - let's see what date that was. This was last year. So they kept on stressing you won't die with SMA. Well, you know, it was all really just to make me feel happier I think. I think they knew that I was fussing.

I am still thinking it is SMA right up until January '06 and going on through January '06, sorry, until I went to see the neurologist. After going to the SMA conference I went to see the neurologist. And I went in July, and he immediately said, 'You have motor neurone disease', which he then proceeded to say, 'I expect that is a shock to you.' And I said, 'Yes, it is a shock to me.' And he gave me a tape of what he said. He then talked to me, talked it through and a brilliant tape of what it meant. And so then I came home and then I started dealing with it.

Now what do I say? It is shattering. I have very bad kind of moments but on the whole I think that it is true to say that 75 or 80% of the time I am extremely happy. I have got my head round it. I have reduced my lifestyle completely down from what a lot I was doing and, you know, although as I say some moments are very, very dark and black because you think you are getting better, getting worse and it is a bit black. That is enough of that.

I don't think it would have made a scrap of difference whether I had known at the beginning or not, and I think possibly psychologically they were all right. They were getting me up to the stage when I would accept the fact that I had this terminal disease. So I wouldn't blame anybody. I prefer the way the last specialist did it. But it could well be that he realised that I had been brought up to accepting this.

Some people were upset to discover their likely diagnosis almost by accident, for example getting a letter signed by the MND clinic co-ordinator asking them to come for an appointment. One man went to an appointment with a consultant holding one of his regular clinics and said, “While I was getting dressed again, my wife asked him what his speciality was. And at that moment we found out that this was an MND clinic.” A woman who thought her husband might have MND had her suspicions confirmed when she looked at the file on the neurologist's desk while he was examining her husband in another room.

There are several types of MND, some of which are less common, including PLS (primary lateral sclerosis) and PMA (progressive muscular atrophy) - see footnote. It can take some time for specialists to determine whether someone has one of these rare forms, so sometimes people had a diagnosis of MND which was later revised, or the diagnosis remained unclear for some time. 

 

At first they were told his symptoms did not fit the diagnostic criteria for MND. They were happy...

At first they were told his symptoms did not fit the diagnostic criteria for MND. They were happy...

Age at interview: 64
Sex: Female
Age at diagnosis: 56
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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.

 
 

Peter's daughter's diagnosis remained uncertain for some time, because she was so young and did...

Peter's daughter's diagnosis remained uncertain for some time, because she was so young and did...

Age at interview: 62
Sex: Male
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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.

In about 5-10% of people, there is a family history of the condition (MND Association 2017), indicating that the disease is caused by a variant of a gene which is passed through the generations. This is known as inherited or familial MND. (See 'Possible causes of  MND'). People who had seen other family members with the condition were quick to spot similar symptoms in themselves and to seek diagnosis. One woman whose father and uncle had died of MND was diagnosed within three months of first noticing symptoms, which she thought was unusually fast. Professionals alerted to a family history of MND may also be able to confirm the diagnosis more quickly.

 

MND runs in her family so she was referred quickly when she developed symptoms. She didn't want...

MND runs in her family so she was referred quickly when she developed symptoms. She didn't want...

Age at interview: 45
Sex: Female
Age at diagnosis: 37
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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.

One man whose brother had died of MND did not yet know it was the inherited form, and his symptoms were quite different to his brother's, so a connection was not made straight away. It was only when he was diagnosed that they realised it ran in the family. (See Interview 34 - Ken's story). 

Footnote: less common types of MND diagnosis

A few people diagnosed with MND will be told they have a less common form of the condition such as PLS (primary lateral sclerosis) or PMA (progressive muscular atrophy). PLS affects only the upper motor neurones, and PMA only the lower motor neurones. The first symptoms of these forms are very similar to other more common forms of the condition, so in the early stages it can be difficult to distinguish them. In PLS, legs, hands or speech can be affected, as well as sense of steadiness in walking, and in PMA it is usually hands or legs. People with these forms generally live longer than people with more common forms of MND, but they share many of the same problems of increasing disability. See our resources section for further information about the symptoms and progression of these forms.

The MND Association provides a range of information sheets, including content about symptom management and 2C: Primary Lateral Sclerosis and 2D: Progressive Muscular Atrophy.

Last reviewed August 2017.
Last updated August 2017.
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