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.