Lisa Steen: The wilderness of the medically unexplained

lisa_steen2This patient perspective essay was written by Lisa Steen. She has since died. We have permission to publish the piece from her husband, Raymond Brown.

I am a GP, formerly a trainee psychiatrist and now 43 years old. In July 2014, I was diagnosed as having kidney cancer with multiple bone metastases. The cancer was extremely rare, associated with a succinate dehydrogenase B (SDHB) mutation. This genetic condition was later also found to be the cause of my carotid body paraganglionoma which had appeared when I was 18 and was finally excised when I was 27.

I had felt unwell in terms of dizziness and visual symptoms since August 2012, and presented to my GP in September 2012, nearly two years before my diagnosis was made in July 2014. So I spent two years wandering in the wilderness of the medically unexplained.

In fact I had been feeling tired for several months even prior to this presentation in August 2012, and had felt like I was lacking concentration. I had been put on a series of antidepressants, each of which caused “side effects” which may have been symptoms of illness all along. Fluoxetine caused headaches, sertraline caused diarrhoea, and dosulepin caused visual disturbance—at least that’s what I thought at the time.

I had considerable difficulty describing my symptoms: primarily visual disturbance; a sense of being behind a wobbly TV camera; also of diplopia—another image slightly below causing blurring, and negative palinopsia, prompting the GP to refer me to the eye clinic urgently, where all examinations were shown to be normal.

lisa_steen1There were many other minor symptoms too: fatigue, palpitations, cramps in my hands and feet, subtle cognitive impairments, difficulty finding words, memory problems, difficulty coping at work. I had time off sick even though I previously had an intact sick leave record. I had headaches which were worse on standing, also an altered sensation in a glove and stocking distribution, mild tremor, and gradual weight loss without dieting.

My GP sent me to a psychiatrist mainly because I had been on so many antidepressants, and we didn’t know which to choose next. But also because I had initially interpreted these symptoms as SSRI withdrawal or dosulepin side effects.

The psychiatrist’s immediate instinct was that the illness seemed “organic” not psychiatric, and neither was it SSRI withdrawal or dosulepin side effects.

A neurologist’s advice was sought and her first thoughts were of hypothyroidism or low calcium. The neurologist also requested an ultrasound of the neck as I had concerns that it was something to do with my previous carotid body tumour, and I wondered if it had returned.

The ultrasound and bloods proved normal. The neurologist did not find anything abnormal on examination apart from a Horner’s syndrome (longstanding and related to the previous carotid body surgery). An MRI of my head was subsequently normal.

The psychiatrist made a diagnosis of depression and health anxiety.

I did not entirely believe my psychiatrist however, mainly because the visual symptoms were so florid. I considered myself very psychologically aware and was not convinced about the anxiety/depression diagnosis. Though, unfortunately I had proved a highly suggestible subject during the cognitive behavioural assessment, due to having been trained in CBT myself.

lisa_steen3The symptoms did indeed get worse with stressful situations, but this was partly because those situations occurred whilst standing—such as presenting patients on the morning ward round. This had been a factor in stopping work, because there were problems with my word finding and memory. On reaching the patient’s bedside I found myself almost hallucinating in terms of palinopsia, purple haze and blotches, all of which was very distracting whilst trying to contribute to the ward round. It was impossible really to continue working without working life becoming a total humiliation. This did indeed lead to low self worth and anxiety. The low level acute confusional state, as I now see it, meant that I was functioning at a suboptimal level at work, for no clear reason, this then led naturally to anxiety and concern. It was then difficult for me to untangle my own symptoms from psychiatric ones.

Since I was being paid to be off sick, I felt it my duty to follow orders. So therefore to pursue psychological cure—though at the same time I was reading about the physical causes of my symptoms.

I spent the next few months trying to address my apparent mental health problems with a psychologist, and I mainly considered myself to have a psychosomatic illness maybe some sort of conversion disorder. Unusually, I worked backwards, as it were, to exclude a psychiatric illness so as to realise I had a medical illness.

But I gradually became convinced that exertion and not anxiety caused the visual symptoms to worsen, I also thought that the nature of the symptoms “felt” organic because of the pronounced and ongoing visual symptoms.

I then started to look for threads, clues, and a way forward to get treatment. This was thwarted by my earlier diagnosis of health anxiety and having medically unexplained symptoms. One could not be dogmatic in further requests for investigations for fear of looking even more “anxious” or suffering from “health anxiety,” aka a hypochondriac. I wanted to ask the GP for a chest x-ray and abdominal ultrasound, and thought about paraneoplastic syndromes but I always tended to think it was not cancer, in view of the normal inflammatory markers and the length of time it had gone on. But I suspect also it was a pitfall of being forced into the “physician heal thyself” situation.

I saw a vascular surgeon, privately, wondering if the carotid was narrowed by scar tissue from the previous surgery, thinking maybe inadequate blood supply to the brain/retina could be occurring—which is the cause of physiological palinopsia. The carotid was not narrowed, but the vascular surgeon who performed the duplex ultrasound suggested that I might have a genetic disorder and have a phaeochromocytoma, which was something that impacted on his field. I persuaded my GP to order a 24 hour metanephrine test which frustratingly came back negative. At my behest the GP also did blood tests for SLE, and infectious serology screen.

In Spring 2013, I presented to A&E with palpitations, whilst on holiday (the palpitations unhelpfully disappeared on arrival in A&E). The heart rhythm was normal, but the A&E doctor was convinced she heard a third heart sound, and suggested a follow up.

So the next relevant thing seemed to be referral to a cardiologist, in June 2013. I suggested to the cardiologist the possibility of a genetic syndrome related to carotid body tumours. The cardiologist was a kindly man, but after exclusion of any cardiac conditions with an echo and 24 hour tape he began to consider the initial health anxiety diagnosis—or at least it looked like that to me. Once again a kind of consulting room glazing occurred and I was left once more looking like a goldfish. My mouth moving but no sound conveyed to the doctor’s ears. This was by now a familiar feeling to me.

The cardiologist did at least acquiesce to my suggestion that I may have POTS syndrome: postural orthostatic hypotension and suggested referral to a specialist. So I could have some excuse for being off sick.

By now I had gone back to work. There had been a rotation, and I was assigned to a consultant psychiatrist, who made it her mission to rehabilitate me back to work.

By August 2013, I hoped that I had found a thread, something tangible that the specialist could investigate secondary causes of. The POTS specialist did at least do a full examination, though he was not worried about my concerns of a possible pulsatile mass on the left flank, and thought my aorta was just rather left of centre. A tilt table test was organised which was “borderline positive.” In February 2014 further urinary and blood metanephrines were normal. All bloods were repeated and normal. The ESR and CRP remained very low.

At this point I gave up my quest: I was back at work, part time with a benevolent boss, and coping, though tired. I had adapted to my visual disturbance and could now function with it, though I was still embarrassed by my word finding difficulties. I tried to be more organised, and write everything down.

I still knew there was something wrong, but it seemed so fruitless going to see specialists. It was so humiliating, feeling like a goldfish with no voice. Watching doctors’ faces glaze over at the multitude of symptoms. Trying to fit it all in with work and looking after my family.

I decided it would have to wait for clinical events to become more diagnosable. I had tried as hard as I felt reasonably possible. It is also taboo to discuss one’s own health in any depth at work, and I was so exasperated by it all that I felt I would cry if anyone were too sympathetic—which doctors might then interpret as a psychiatric symptom.

In February 2014 I had a follow up with an occupational health doctor. This time the occupational health doctor became concerned, and noticed that I had lost weight and suggested seeing a bowel specialist in relation to a change in bowel habit and to see a neurologist about my numb hands and feet.

I went home and gave myself a full examination. This time I was sure. I found a large mass in my left flank.

I saw my GP, but they couldn’t feel it. I saw my POTS specialist a couple of weeks later and he thought it might be an enlarged spleen. He ordered a routine ultrasound.

One evening in June 2014 the junior radiology technician, working on a waiting list initiative, found a solid/cystic mass 10cm in diameter arising from the left kidney.

I was initially jubilant thinking this would turn out to be a phaeochromocytoma—maybe dopamine secreting. And now I could have an “anxietyectomy.” An urgent CT of the abdomen and pelvis was recommended.

The result was not cause for celebration. The CT showed that the mass was arising from the left kidney and was reported as looking like a renal cell carcinoma. There were also multiple sclerotic lesions in the spine, ribs, and pelvis reported as metastases.

By then I had abandoned my psychiatric training. I had felt unable to study because of “brain fog,” however I had managed to get over the many hurdles to get back my GP status, which involved three exams and six months of retraining.

I had just landed a job as GP Lead for Inclusion service, treating patients with drug and alcohol problems. But the news came just a few days after my interview and offer of the post. My progression through medical services was much more efficient after that and I saw an oncologist and the urologist urgently.

***

I do not know how long I’ll live. It probably won’t be for many weeks. But right now I am glad to be alive, I am grateful for the expensive drug which is holding back the cancer. I am angry at being left in the medically unexplained wilderness and I did not like the way my colleagues looked at me, when they believed me to have health anxiety.

If anyone of the doctors I saw had gone another mile they would’ve stumbled upon it. I almost told them the answer; I repeated over and over my belief of a genetic syndrome linked to the carotid body, something related to it, but they were unable to hear the answer from a patient. They were reluctant to lay their hands on and examine a fellow medic. I was disappointed in finding a very poor appetite for a diagnostic hunt, which may in part be the result of protocolisation and superspecialism. I disliked being unable to order my own tests, and I regret not pulling more strings. I was too embarrassed about my “psychiatric” condition, too confused by not having the whole answer ready.

My story is a cautionary tale to all of us health professionals when we get ill. Illness is somehow not the done thing. It upsets our “them/us” belief system, which helps us cope with the horror of what we see. “We do not get ill, they are ill.” We are a lot more military than we realise.

We are trained to keep going, as if there was a war on. Our workloads are superhuman, and we seriously do not appreciate it if those around us “slack off,” particularly those taking sick leave with depression or stress. “Heaven knows the rest of us are depressed and stressed, all right for some putting their feet up.”
I felt deeply ashamed of being too unwell to work.

The communication was different, it didn’t go the same way that it would have if I was a non-medic. Doctors do not like being told what to do, and if you try obliquely they don’t notice. They don’t worry much as they assume you’ll come back. But it is hard getting to appointments when one is working, and just how many times can you come back if it gets worse? I was beginning to think that our etiquette for being seriously ill is to drop dead on the job—it is fairly common practice, anecdotally anyway.

Mine is a cautionary tale to those treating health professionals, and those of us who are unwell—doctors do get ill, they don’t always know what is wrong with themselves: give them a class A service because it is actually harder getting treated as a doctor than a lay person.

Note: This blog was edited to remove a small piece of text on 30 August.

  • andrewkewley

    “Harder getting treated as a doctor than a lay person?”

    Most people with medically unexplained symptoms like this aren’t able to self-examine and would never have found out what was wrong with them.

    The whole story is tragic. The lesson isn’t about how to treat other medical professionals, the lesson is to look at zebra cases more deeply. Don’t simply dismiss patient concerns or tell them it’s psychosomatic without strong evidence.

  • David Berger

    This is an incredibly sad story and it’s hard to comment more specifically without knowing the full facts, but her symptoms were very unusual and went on for a very considerable time. She had extensive blood tests and other investigations and saw several specialists.

    I am sure everyone involved in her care wishes they had found the diagnosis more quickly and that they repeatedly go back over events in their minds to discern possible clues they missed, but it was evidently an extremely obscure presentation of an extremely rare condition. And I don’t think someone examining her a bit more closely a bit sooner would have necessarily found anything. After all, her GP didn’t feel the renal mass that she had felt. She thought she had a pulsatile left renal mass six months before, but the tumour would not have been pulsatile, so maybe she was feeling a transmitted aortic pulsation. Who knows?

    What does this tell us? It tells us that sometimes diagnosis is extremely hard and you always have to be vigilant. As portrayed, I don’t think it tells us that she was necessarily dismissed or written off or that anyone did anything that was not completely understandable. On the contrary, it looks like people tried hard and did some serious thinking and from the information given it is not at all clear what the relationship between her symptoms over two years and the renal carcinoma actually was. Remember, all her bloods were serially normal. As I say, though, this will, of necessity, not be a representation of the full facts.

    As a GP who has been late to diagnose plenty of conditions much less obscure than this (haven’t we all?), I read this and sit back and sigh a release of pent-up anxiety as I say to myself: “There but for the Grace of God, Go I.”

  • Cyclist247

    Thank you to Lisa for a very brave and honest account of the search for a diagnosis and treatment. My condolences to her family.

    Renal cancers are known for producing a range of hormones, which may have caused some of her symptoms.

    I hope we learn from Lisa’s account how dangerous ‘Medically Unexplained Symptoms’ [MUS] and related ‘diagnoses’ [‘stress’, ‘psychosomatic’, ‘functional’ etc] are. They are self-fulfilling prophecies. They make us lazy. Once a patient has this label, all their symptoms and concerns are too easily explained away as an expression of MUS.

    Perhaps we should review every patient with MUS every half a year with a thorough history and physical examination and basic bloods? We should at least remain open to somatic explanations, even in people who have had MUS for years.

    Perhaps we should re-phrase the diagnosis as MNYES: Medically Not Yet Explained Symptoms. As doctors we may like to think we know everything – and that if we do not HAVE an explanation, there IS no explanation. And that therefore the cause must be MUS, stress or health anxiety. That is a fundamental flaw in our thinking. Let us acknowledge that we don’t know everything. There may be a [rare] disease we don’t know of, causing the symptoms. As in Lisa’s case. Common things are common, but we must remember that rare things happen quite frequently too. We need to keep our eyes and ears open for any lead to a diagnosis.

  • Lijsje Nodon

    The problem here is not Lisa Steen being a doctor herself nor the medically unexplained. It’s the terrible lack of interest that doctors show in patient stories, blinded by their own ego? Lisa Steen is just one of the thousands of people that have to make their own diagnosis, since their doctors find it easier to tell them something’s wrong between their ears. It’s sheer disbelief: if doctors can’t see it right away, something must be wrong in the patients head. This is not only extra sickening for the already suffering patient, it’s an affront to our intelligence and to our wisdom in what we feel.

    Concerning Lisa Steen: when I, as a lay person, can find out with ONE mouseclick (Oncoline, Netherlands), that someone who has suffered a paraganglionoma, can develop kidney cancer as a rare (about 2%) complication, as a doctor I’d feel deeply ashamed not checking that out.

    So away with that attitude, all of you medical professionals, and back to basics: listen to your patients. In 9 out of 10 times, just like Lisa Steen, they tell you exactly what’s wrong with them. Stay curious, instead of dismissing people as being crazy or stupid. That takes lives, you know.

  • Polly

    This is a great legacy from a very sad story. It gives me hope that in the future doctors will never dismiss/diagnose patients as having ‘medically unexplained symptoms’, ‘illness anxiety’, ‘conversion disorder’, ‘functional symptoms’ or whatever other euphemism they want to use when their medical knowledge is, entirely understandably, incomplete.

    These are wastebasket diagnoses and can be very dangerous, as evidenced here. I have lost count of the number of ‘zebras’ I know who have been through similar hell. It is tragic that not all of us live long enough to help doctors to raise the bar so that no one else has to suffer the psychological impact of lengthy delays in diagnosis. Or the psychological impact of being treated badly (in all senses of the word) whilst waiting for a diagnosis, which happens to far too many of us.

    I am grateful to this GP’s family for sharing her story – may her legacy live on for many years.

  • Wil Hoefnagels, neurologist

    This is an appalling story. After all, if renal cell carcinoma is detected early, it can be cured. However, i do not believe that her vague complaints for more than 2-3 years are explained by the final diagnosis of renal cell carcinoma with metastases. Unfortunately in many patients this diagnosis is made rather late than early.
    I am very sorry to hear that she met doctors who did not go for the extra mile. Of course with a very rare tumor such as carotid body paraganglionoma, one should look up what this means. This tumor is indeed associated with several cancers. But even after you learned this: dizziness, fatigue en palpitations do not indicate cancer. Paraneoplastic syndrome is also a very unlikely explanation. This syndrome is usually fast progressive (months not years). This sad story leaves me with the question whether I as a neurologist would have done better?

  • Will Bilton

    Perhaps the cancer resulted in a paraneoplastic POTS syndrome. This has been mentioned in the literature. “POTS can also be a form of paraneoplastic syndrome that can be seen with adenocarcinomas of the lung, breast, ovary, and pancreas. It has been reported that these tumors produce autoantibodies to the acetylcholine receptors of the autonomic ganglia similar to those identified in the postviral syndromes.” ref: Klein CM, Vernino S, Lennon VA, Sandroni P, Fealy R, Benrud-Larson L, Sletten D, Low P. The spectrum of autoimmune autonomic neuropathies

  • Ingrid Hoeritzauer

    It was incredibly kind of Dr Steen and her family to share her story, thank you. It emphasises several key points, the impact of being medically unwell and a doctor, the guilt that goes along with it, the complexity of getting a diagnosis and the frustration and difficulty of truely medically unexplained symptoms. To reassure others commenting here, there are functional neurological disorders but they must be diagnosed based on positive clinical findings, they are never a diagnosis of exclusion. The misdiagnosis rate on a systematic review done in 2005 was 4% on studies done after 1970 which, although still too high, is similar for the rate for many other neurological diagnoses.
    Dr Steen has given us an insight into the vulnerability of the patients we treat and a reminder that there are limitations to our knowledge. We must consider that any one diagnosis does not necessarily explain or exclude another. We must diagnose based on positive grounds and when we don’t know what is wrong we need to be honest and be prepared to listen and listen again on our journey with the patient to a diagnosis. Thank you to Dr Steen for her honesty and the bravery she and her family have shown in sharing this with us.

  • Andrew Nielsen

    As other people here have mentioned, I am not sure that I would have done any better. To the people who say that doctors are lazy or blinded by their ego, or say too soon that a condition has a psychological cause, I say ‘nuh’: the problem was that the condition was obscure.

    An earlier poster said that they discovered with “ONE mouseclick” that there was a 2% chance of renal cancer after developing a paraganglionoma. They must have a better internet than me because the first few sites that I visited did not mention the risk of later cancers. When I meet a patient with psychological symptoms who has had cancer, I try to see if they might have had a complication. In this case I would have missed the connection. I wondered why Lisa Steen did not come up with the differential diagnosis herself. It seems that it is easy only with hindsight.

    With new patients, I usually order dozens of bloods. I often order MRI brains, holters, ECG’s and sleep-deprived EEG’s. I have never detected any major organic illness. Not ever. Not one. The one time the MRI brain came back with a mass, it was a diagnostic error.

    I will add to my list of things for people with prominent somatic symptoms: history of tachycardia, especially after standing for some minutes, CXR and USS abdomen. As I write this, I can’t help but think I’m going to be over investigating.

    If someone was able to come up with a list of conditions often misdiagnosed as having a psychological origin, I would be interested to hear it. I would have no hope of writing one. (Of course, CFS and fibromyalgia don’t count because the treatment is psychiatric anyhow.) I wonder if this would have been diagnosed in Australia. We might be a little less parsimonious with our imaging here, by that I mean that we over investigate.

  • evidmed

    I think anyone in the medical profession could read this gently observant story, and learn something from it. It was really brave of the family to publish it.
    I think what struck me most is the time Dr Lisa Steen had to spend trying to untangle the real physical symptoms she felt, from the real worry of what they could be.
    The difference between us as doctors and a lay person is that if we have a list of non-connected unexplainable symptoms, we KNOW that what we are saying does not sound logical. The anxiety is not “health anxiety”, it is anxiety that we are coming across as a hypochondriac.
    This need to rationalise our symptoms, could potentially make us challenging historians, and that should be recognised.
    Unfortunately, I also recognise Dr Steen’s initial jubilation at having a phaeochromocytoma, but is that not in itself telling, that it is preferable to have a potentially life threatening tumour, than being diagnosed as anxious.
    Thank you again to the family for publishing, I think it is a really important essay

  • Hi there, Laura. I’ve read this comment from a month ago and I’m looking for that AARDA study. If you could point me in the right direction, that would be great. Thanks in advance.

  • kidsandliz

    I think when MD’s decide to blow someone off, they suffer from confirmatory bias and that just makes a bad situation worse.

    I hate to say it but as others have pointed out it isn’t just MD’s who get treated as hypochondriacs. Breast cancer #1 was 5.5cm when I was finally allowed to have a mammogram because I was “too young” and it was just “normal lumpy breast”. I had B symptoms for 18+ months connected with an indolent non-hodgkin’s lymphoma…and looking back at my medical record people realized that I had had it for 13 years prior to the dx – early per-menopause symptoms, hypochondria, depression when I complained of massive fatigue, etc. were all dx’s and this was in the face of concrete symptoms like enlarged nodes, hematocrit of 7 for no apparent reason (coupled with B symptoms). The later cancer was found by accident when a gastroenterologist ordered a CT scan in frustration.

  • nancyblake

    ‘Of course, CFS and fibromyalgia don’t count because the treatment is psychiatric anyhow.)’

    These are physical diseases: treating them as psychiatric pushes mild cases into severe physical incapacity and permanent intractable pain, intermittent paralyses and a range of other symptoms. The IOM confirm that in this disease, ‘exertion of any kind … may adversely affect many organ systems….’ and exercise is what the psychs prescribe.

    http://www.positivehealth.com/article/cfs-me/medically-unexplained-symptoms-diverting-5-year-funding-from-mental-health

    http://www.positivehealth.com/article/cfs-me/lost-in-translation-the-me-polio-connection-and-the-dangers-of-exercise