Unexplained, Misdiagnosed, Untreated

In my previous post I discussed what seems to have been a grand tradition in medicine, dating back to at least the 19th century, of assuming that any set of symptoms which is not understood or does not fit the template of an acknowledged illness must be psychological in origin. This seems to be based on the premise that everything physical is fully understood by doctors. So if a set of symptoms are ‘medically unexplained’ they can only be the result of some kind of faulty thinking on the part of the patient.

If this kind of logic had been left behind in Victorian times, it might have been thought to be quaint and perhaps even amusing. But the fact that it seems to not only survive but positively flourish in the present day is beyond a joke.

For the fact is that not everything physical is by any means understood. It never has been and it most probably never will be. Medicine is constantly evolving. More is being learned all the time. This is a good thing. So conditions that were previously dismissed as psychological in origin, such as epilepsy, Parkinsons, multiple sclerosis, even stomach ulcers for goodness’ sake, have gradually been understood to have a physical basis. And new advances in genomics and computer simulation – to name but two evolving fields – will no doubt lead to further such progress.

So if you ask yourself “are all physical illnesses fully understood even today?” you should only have to think for a moment to answer “no – of course not”.

So why is the medical profession still acting as if they are? Why are patients with symptoms that aren’t understood still automatically passed on to psychiatrists?

As I wrote that earlier post, it seemed to me that people with ME/CFS, dismissed as we so often are (in spite of evidence to the contrary) as people who are out of condition due to an irrational fear of exercise, have become the unwilling recipients of this grand tradition of blaming the patient. I was aware that others are dismissed in the same way of course: those with fibromyalgia and Gulf War Syndrome for instance. And I’m sure I’d have thought of a lot more if I’d put my mind to it, which – to be honest – I didn’t. I’m afraid most of us who are chronically ill are guilty, to some extent, of knowing a lot more about our own illness than we do about other people’s. So it wasn’t until I read the comments which people kindly left on the previous post and followed up a few leads they gave me that I realized the full extent to which the ‘medically unexplained symptoms’ (MUS) industry is flourishing in the present day. It seems that there is not so much a niggling problem with these ‘imaginary illnesses’ as a veritable plague of them. If you believe what some health professionals say – and I shall share what is said in a moment – there are more ‘imaginary illnesses’ than there are real ones.

It seems we are living through an imaginary epidemic. And there we were thinking that global warming was our main problem…

I should make it clear that I have used the expression ‘imaginary illnesses’ not because the symptoms these patients suffer are imaginary, which they clearly are not, but because the various conditions which have been dreamed up to explain them away seem to me to be imaginary, describing as they do various weird and wonderful mechanisms which appear to be based on conjecture rather than science.

One of the groups which is particularly vulnerable to the ‘MUS’ label is that of people with rare diseases.  As doctors don’t often see these conditions, they are bound to be relatively poor at diagnosing them, so all too often these patients are bundled off to the psychiatrist with ‘MUS’ on their notes. This can delay diagnosis for many years, which at best can lead to unnecessary suffering and at worst, in cases where early treatment is vital, the consequence of the delay can even be fatal.

The newly released Rare Disease UK Report The Rare Reality – an insight into the patient and family experience (compiled from a survey of over 1200 patients and their families) confirms that such patients often have problems persuading medical professionals to believe their symptoms. Their condition is initially written off as ‘psychological’ or parents are described as ‘neurotic’.

Those with invisible conditions and/or those who suffer from conditions without biomarkers are also especially vulnerable to the MUS label.

Patients with a diagnosis of neurological MUS are often recommended to a site run by the neurologist Dr Jon Stone called ‘Functional and Dissociative Neurological Symptoms: a patient’s guide’ which seeks to explain to the understandably bemused patients about what is supposed to be wrong with them. They are told that the symptoms are ‘real, not imagined’ but ‘due to a problem with the functioning of the nervous system, not a neurological disease’. A substantial list of names is provided to describe the various categories and sub-categories of conditions which supposedly correspond to these symptoms: functional disorders, conversion disorders, dissociative disorders, non-organic, psychogenic, somatization, psychosomatic, hysteria… To which I can add some further examples pertaining to general MUS, courtesy of none other than Prof Trudie Chalder, who is well known to ME patients from her involvement in the PACE Trial: somotoform, hypochondriasis, idiopathic disorder, body dysmorphic disorder, health anxiety and factitous disorder (never heard of that one), all of these contained in her presentation An Introduction to Medically Unexplained Persistent Physical Symptoms. I should add that she also includes some very specific examples: irritable bowel syndrome, fibromyalgia, chronic fatigue syndrome… I thought we’d get in there somewhere.

Indeed, Dr Stone goes on to provide advice on which of the various weird and wonderful terms patients should use on official forms. If you ‘just have symptoms like weakness or blackouts’, he recommends the use of ‘conversion disorder’. This refers to Freud’s theory that patients convert their stress into physical symptoms in order to relieve it. He accepts that this is most probably a load of nonsense but ‘the term is recognized and you may need to use it in official documents’. If, however, the main symptom is fatigue, he says, then ‘calling the problem “Chronic Fatigue Syndrome with functional neurological symptoms” may help define it for everyone’.

(Thanks a lot, Dr Stone. That will indeed make everything clear – and it should help to keep those GET research cohorts more homogeneous than ever…)

Dr Stone goes on to explain that MUS patients can be helped by anti-depressants, graded exercise and talking therapies, interventions which will sound very familiar to people with ME/CFS. He also provides a ‘feedback’ section on his site, where people talk about their own situation and how the site has helped them. I found this a worrying read. Quite a few of these correspondents describe conditions which sound very like ME – and indeed like numerous other physical conditions – yet they have been told they have MUS and are not, at least for the time being, looking any further than that. What made the biggest impact on me is that they are heartbreakingly grateful to have discovered Dr Stone’s site. In many ways, it is easy to see why. In the context of what is happening, Dr Stone is actually one of the good guys. His site provides a welcome port in a very menacing storm. He tells the patients that their symptoms are real and are not ‘their fault’; they are not ‘going crazy’, that they deserve to be treated with respect. It is quite clear from what he says, time and again on his site, that a great many of his colleagues do not feel the same way.

Here are some quotes from the site:

“Patients with functional and dissociative symptoms have often had a raw deal from doctors over the last 100 years.”

“Some doctors really don’t believe patients with these symptoms.”

“They make a terrible mistake in thinking that most patients with functional symptoms are ‘making up’ their symptoms or ‘swinging the lead’.”

“Many neurologists have taken a very poor view of these sorts of problems over the years.”

“There is a tendency among some neurologists to view these symptoms with suspicion.”

“Some neurologists jump to unwarranted conclusions about past psychiatric or traumatic problems which can be very unhelpful.”

“In my view, a lot of the difficulties in this area could be overcome if health professionals were better educated on the diagnosis and management of these disorders.”

All of which makes it clear that a great many patients are given a terrible time of it for having the temerity to present with symptoms that are not in the textbooks or are simply difficult to diagnose. Patients with ME/CFS know all about this problem – but it’s obviously not just us that have to suffer the consequences.

Reading those quotes from the site makes me understand why a friend of mine had such a strange experience when he was examined with suspected Parkinson’s Disease. His symptoms were apparently not quite what would normally be expected and he detected an attitude in the neurologist which seemed to vary between amusement and hostility. Only when he was given a scan which confirmed the diagnosis did the consultant become more pleasant and empathic. My friend and I both found this puzzling at the time, but in the context of what I am now discovering, it all makes sense. Only when it is confirmed that you have ‘a proper illness’ are you shown respect.

So how many people have to go through this MUS indignity? According to Dr Stone, around 15% of new patients at neurology clinics are diagnosed as having functional disorders. That sounds bad enough but according to some in the MUS industry, the proportion is much higher. Neuropsychiatrist Kate Seddon believes that 20-50% of all consultations in primary care and up to 50% of all general hospital outpatients concern MUS conditions. She reports “one UK study showed prevalence between 24% in chest clinic to 64% in neurology clinic”. So according to her, there’s sometimes more of a problem with these imaginary conditions than there is with the real ones. Indeed, she cites a 2001 study by Nimnuan et al (the ‘et al’ including one Simon Wessely) which quotes 52% of cases at hospital clinics to be MUS (broken down as 37% of Dental, 41% of Chest, 45% of rheumatology, 53% of cardiology, 58% of gastroenterology, 62% of neurology and – I suppose we should not be surprised that it heads the list – 66% of gynaecology).

What I find even more concerning is Dr Seddon’s analysis of the underlying factors behind all these unexplained symptoms. She talks about “different layers of conscious awareness”, “links with factitious/ malingering” and “layers of motivation (including secondary gain)”. She adds, “it’s usually a continuum”, strongly suggesting that in her opinion there’s usually some element of malingering and fabrication involved in these unexplained symptoms.

Now, it might be that Dr Seddon is a bit of a maverick and most doctors do not share this view or agree with such enormous estimates of the extent of the problem. But the above quotes come from her presentation ‘Diagnostic Dilemmas – Medically Unexplained Symptoms’ which she is using as a training aid. She is teaching her fellow health professionals about MUS.

It is difficult to avoid the feeling that her students must end up so busy looking out for MUS that they scarcely have time to think about the possibility of other conditions.

To be fair to Dr Seddon, she does say that she finds it helpful to admit ‘uncertainty’ to her patients, but I get the feeling this is more because the patients like to hear it than because she actually believes in such fallibility.

Indeed, it is this ‘certainty’ which is one of the main problems in all of this. Look, I myself am willing to accept that the mind can affect the body. The two are linked after all. If we’re under stress, it seems likely that this can impact negatively on our physical health. It also makes sense to look at psychological therapies which can help with such problems. What I am objecting to – and what is surely hurting patients  – is this certainty, this erroneous conclusion that any physical symptoms which are not presently explainable must be psychological in nature. There’s no logic to it, no proof for it, no rationale whatever. But the medical profession has been doing it so long they never stop to look at it and ask themselves if it makes any sense.

Well no, it doesn’t make any sense, unless (as one of my correspondents – @bluesky on Twitter – put it) MUS is medical-speak for ‘we haven’t a clue what’s wrong with you but we don’t want to admit it’.

This gross perpetuated error is bad enough, but what is worse is that having erroneously categorized these patients as ‘MUS’ so many doctors go on to withdraw their respect and treat them with disdain, leaving the likes of Dr Stone to set up a website to placate their patients and apologize for his colleagues’ behaviour. It really is an outrageous situation.

And of course the ultimate irony is that it makes no sense to draw a distinction between physical and ‘non-physical’ symptoms anyway. They are all manifestations of malfunctioning bodily systems. There is no proof that MUS symptoms are caused by the nervous system – they are (by definition) ‘unexplained’ – but even if they were, would it make any sense for a doctor to hold a malfunction in one bodily system in lower regard than that in another – and to reflect this supposed distinction in their attitude to the patient?

It is one ridiculous notion heaped upon another – and dressed up as sensible medical practice.

The farcical yet damaging nature of all of this is summed up very well by the case of joint hypermobility syndrome, a condition in which the joints are flexible beyond their normal range. In his 2013 paper Joint hypermobiliy: emerging disease or illness behaviour? the rheumatologist Prof Rodney Grahame discusses how two more or less indistinguishable conditions, joint hypermobility syndrome (JHS) and Ehlers-Danlos syndrome (EDS) were first described by two different sets of doctors on either side of the Thames, the latter as ‘a multisystem heritable disorder of connective tissue with clinical expression in many bodily systems’ while the other, JHS, was taken to be ‘a purely rheumatological disorder in otherwise healthy individuals’, the extra-articular symptoms of which (though fully recognised in EDS) were dismissed as a form of ‘illness behaviour’, which is yet another expression for MUS. (However many of these I list, there always seem to be more…)

Because there was no contact between the two sets of doctors, even though they were both in London and only a few miles away from each other across the river, the two conditions remained entirely distinct for many decades and apparently even today, according to Prof Grahame, “JHS is still more often than not overlooked, misdiagnosed and hence untreated”.

Prof Grahame encapsulates the whole MUS situation very well: “there is a common tendency in medicine when faced with medically unexplained symptoms to assume that they are psychogenic in origin. This is a high-risk approach that can have disastrous consequences.”

So it seems. Over and over again, down the decades, and still largely unchallenged today.

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14 thoughts on “Unexplained, Misdiagnosed, Untreated

  1. Surely ALL illness, whether it be ‘psychiatric’ or otherwise, has to stem from biomedical underpinnings. It can’t be any other way. Psyches aren’t keen on that idea as to accept it would make their whole raison d’etre disappear in one puff!

    Liked by 2 people

      1. Dr Stone seems to suggest that any diagnosis should be given on the basis of positive test results, not just following an oral history. Somehow I get the feeling his advice is not always adhered to – another reason for needing more guidelines from the GMC, NICE etc.

        Liked by 1 person

  2. Thanks for another great post and particular thanks for mentioning the plight of many people with rare conditions. I was horrified to read the Rare Diseases survey report (with respect to delays in diagnosis often being to do with the very strange attitudes and beliefs of some doctors) but in a way this acts as a warning beacon for the patients of the future. What I hope will happen is that more patients will stop waiting until they see an expert for a diagnosis but will, instead reach for the Isabel Symptom Checker and apps such as FindZebra, prior to their consultations.
    Meanwhile Kate Seddon is an interesting clinician. I saw her a while ago having requested a referral to the sleep clinic. Sensibly she asked if anything had disrupted my sleep in the past and/or disrupted my schooling and development. I mentioned that I had had a skiing accident which had resulted in a broken leg and a missed term at school. This she recorded as ‘an illness’ (and got the date wrong). My Dad, who is a retired GP, felt she may have been trying to portray MdDS as some type of somatoform condition (rather than a relatively straight forward, if rare, neuro-otological condition) using this earlier ‘illness’ to build her case. As our family GP said ‘This is a dangerous approach because all any self-respecting GP needed to do was to go back through your notes and they would have seen that you’d broken your leg and not had some un-named illness. So, in my view, all Dr Seddon succeeded in doing was discrediting the rest of the clinical notes she wrote for you – and her profession.’
    Another interesting thing I discovered as a result of consulting with Kate Seddon is that her patients think they are getting a copy of their notes, but the version they get differs from the one their doctor receives which contains a whole extra paragraph. (I found this out due to clerical error, having requested my notes to be sent electronically – the missing paragraph then came to light). The hospital trust she works for say this is standard practice and done because patients might not understand the language used in this paragraph, which covers the ‘mental state report’. I’m not quite sure how they’ve reached that conclusion (how could they survey patient understanding of a paragraph that patients are not permitted to read read??) but it doesn’t sit well with me that patients are being told that they’re getting a copy, when this is not the truth. It also brings up another issue: we’re told we have the right to an accurate set of notes (and there are excellent note-writing guidelines freely available from the GMC) but how can we know if they are accurate if we can’t read them?
    I’d like to think that she covers comments and questions like these in her training sessions, along with – as you mention – admitting uncertainties. But I can’t be certain.

    Liked by 1 person

  3. Thanks, Polly. I look forward to finding out more about the symptom checker and app you mention.

    Your experience with the letter is disconcerting. I sincerely hope it *isn’t* standard practice to have two versions like that. It would largely defeat the purpose of asking for a copy in the first place. I wonder if anyone else has had a similar experience? Perhaps I will ask in a future post. I guess you are still entitled to have access to your GP’s notes – which presumably would contain the unexpurgated letter – but it isn’t really feasible (and certainly not convenient) to request such access on every occasion.

    Liked by 1 person

    1. The problem is that people won’t know if they have had a similar experience – they think they have a copy, so probably wouldn’t check – and even if they do there is no guarantee that they will be sent the full notes. When I bought my notes, there should (according to Kate Seddon) have been a note in them to send me her notes without that paragraph. There wasn’t, so it was two lots of clerical errors that allowed me to read it – but I don’t think patients can rely on clerical errors to have full access to their notes.

      Liked by 1 person

      1. “There should have been a note in them to send me her notes without that paragraph.” I fully accept that’s what you’ve been told but surely if that were standard practice it wouldn’t be feasible? Can you imagine the admin staff having to go through a patient’s notes each time someone requested them, presumably taking photocopies with the relevant paras blanked out and switching them with the originals? Then presumably switching them back when the notes were returned? I can’t see that happening. Yet if that is the intention, it involves the deliberate deceit of patients.

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  4. Add seronegative myasthenia to the list.

    And in the Netherlands these are all lumped together as SOLK…. MUS .

    They bigger problem being that doctors are diagnosing SOLK rather than first looking for the real cause. And they are proudly Claiming that 50%+ of patients in any clinic are SOLK.
    It may be true but how can any scientist be proud that more than half the time they have NO IDEA what is going on and NO interest in finding out!

    Liked by 2 people

  5. Thanks for this Julie. This appears to be another example which illustrates the issue perfectly. Seronegative myasthenia was a new one on me but I did a quick google and the Wikipedia entry for ‘myasthenia gravis’ contains the following:
    “Acquired myasthenia gravis is the most common neuromuscular junction disease.[18] Important observations were made by Patrick and Lindstrom in 1973 when they found that antibodies attacking the acetylcholine receptors were present in around 85% of cases of myasthenia gravis.[26][27] The remaining diseases were also a result of antibody attacks on vital proteins, but instead of the acetylcholine receptor, the culprits were MuSK, a muscle-specific serum kinase, and lipoprotein receptor-related protein.[27] So these mechanisms describe myasthenia gravis that is acquired, and not congenital, affecting the these vital proteins by an immunological response against self-antigens. The cases not caused by antibodies against the acetylcholine receptors became by convention called seronegative myasthenia gravis.[28] The term seronegative came about because scientists would be testing for acetylcholine receptor antibodies in patients that had myasthenia gravis resulting in negative tests in the serum. This does not imply that there are no antibodies present, but this terminology only became present because scientists were testing for the wrong antigen.”
    There is no entry for ‘seronegative myasthenia’ because it doesn’t exist any more. It was only seronegative (i.e. the blood test was negative) because ‘the scientists were testing for the wrong antigen’. So, if I have this right, Dutch doctors have purloined an outdated term for something that is no longer ‘medically unexplained’ and are using it as one of their favourite terms for MUS. Another illustration of how crazy the whole thing is.

    Liked by 2 people

  6. Julie – I agree. Every time I see a chart that says x % of conditions/symptoms are organic and the rest are ‘unclear’ I ask the clinicians to explain why they are so bad at clearing up the unclear. They tend to go quiet at that point. So I press on and say that these stats are unacceptable from the patient perspective and could they please get a move on and do the research so that they can explain things that they currently can’t. And, in the meantime, could they please stop being so complacent and/or pleased with themselves. This approach doesn’t win me many friends amongst these clinicians. But when I go and do patient narrative events with medical students it usually gets a good laugh.
    I know the Netherlands is hot on the ‘patients involved’ movement so I’m sad to hear that patients there are still getting a rough ride and a raw deal. My ray of hope is that a wonderful Professor (Floris Wuyts) has co-authored a book about vestibular conditions with one of his patients – let’s hope this provides a template for future patient/clinician collaborations. I hope you can find a scientist to help you soon and can steer clear of the psychobabble merchants in the meantime.

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