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....
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...
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,...
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...
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...
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...
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...
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.'
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....
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 developed symptoms in pregnancy. She believes the neurologist knew at once what was wrong but...
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...
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....
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...
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...
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.
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.
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.
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?
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?
It’s just sort of crept up on you?
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's daughter's diagnosis remained uncertain for some time, because she was so young and did...
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...
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 updated August 2017.