Med Soc Conference 2025: Autoethnography and postpolio hypoventilation misdiagnosis

• Ruth, a Community Researcher with the Cripping Breath project presented an account of her experience of misdiagnosis at Med Soc, and this post provides an overview of her talk.
• It focuses on the subjective experience of living with breathing difficulties and struggling to get an appropriate medical diagnosis and treatment.
• When a researcher draws on their personal experience to understand an issue they wish to study it is described as autoethnography. This blog also explains a little bit about this approach.               

A number of probably illogical and unconnected reasons brought me to this year’s British Sociological Association Medical Sociology conference (Med Soc) in Newcastle, having not been to a sociology conference in some years.  It was only a 45-minute drive from my house, and I was interested in whether they would accept my abstract which drew on an article I had written about my experience of hypoventilation (raised CO2) misdiagnoses that had been rejected by two sociology journals for being a subject they did not deal with. My breathing difficulties appeared years after having childhood polio at the age of 2, although I had started deteriorating with postpolio syndrome in my 30s. The abstract was accepted by the conference and I began to wonder whether anyone would be interested in a subject that seemed so taboo to sociologists. I pictured myself alone in a room talking to myself. Luckily it didn’t happen that way. I could only go to the conference for a short time but I felt that people were interested in stories of misdiagnosis, and the previous talk, by a doctor, was on a related subject, intuition in diagnostic thinking.

Autoethnography

An autoethnography is a study, often done because a subject is being silenced, which embeds a personal story in its wider cultural meaning. What was different and probably unacceptable (to some) about the article I tried to publish is that, instead of just writing about my experience, I concentrated on the doctor-patient interaction, and looked into studies of medical reasoning and the flaws that can lead to misdiagnosis. The two doctors who had made the misdiagnoses in my case (more about this below), had told me what they thought about my main postpolio symptom, muscle fatigue, and my respiratory test results, as written opinions and beliefs in their letters. Such detail on why a misdiagnosis is made does not appear in many research studies as it is not something doctors want to talk about in an interview.  So often only an autoethnography can uncover these private conversations and shed light on this issue. 

Medical misdiagnosis and atypical cases

This was the first condition I was thought to have which was potentially fatal and had a treatment, ventilation, which could help, so it was particularly important to acquire the correct diagnosis. However, the main problem in making a diagnosis is that medicine is an uncertain science and patients do not fit the average case described in the evidence. So doctors are trained to use heuristics, shortcuts used to simplify diagnosing common diseases, which disregard the atypical, but bring some certainty to medicine and confidence in diagnosing. This leads to problems with complex or atypical cases where there may be contradictions in the evidence, history and test results, causing dissonance or conflict for doctors, leading them to disregard or distort some of the evidence in order to construct a coherent judgement (Kostopoulou et al 2009; Zwaan et al 2013). This is what two respiratory consultants, over 5 years, who had strong beliefs about polio and respiratory tests, did in my case.

And now to the story…   

I was referred to the first respiratory consultant, Dr R1, in 2017, by a neurologist I had been seeing for several years who believed I had a breathing problem, probably shallow breathing due to weak or fatigued respiratory muscles, and thought I needed a test to measure my CO2 levels overnight.

Before seeing Dr R1, I had an overnight oximetry and some basic lung function tests. He took a detailed history and then told me that my tests so far were normal, both the vital capacity (lung function) and oxygen levels, which are considered important indicators for hypoventilation although they don’t necessarily have to be abnormal for there to be a problem. He said he believed my sleep problems were due to ordinary ageing aches and pain although I had not mentioned aches and pains.

He ignored that I had described suddenly waking every hour in the night and suddenly having much worse muscle fatigue in my right arm which led to trembling and increased weakness with the slightest use. I also had memory and cognitive problems, and extreme sleepiness on and off in the day. My sleeping and arm problem improved a few weeks later when I changed my sleeping position to be more upright, which aids breathing, suggesting that both problems were related to breathing. I asked Dr R1 if he believed in postpolio muscle fatigue and he said no, which is a common view among neurologists. I also asked him about the normal values of different tests and he said he made up his own values.

I then had some more tests with a respiratory physiologist, who saw the results of my earlier tests and told me he knew I was going to have a difficult time getting a diagnosis, so he wanted me to know that one of the tests he had done, the MIP, a respiratory muscle test, was abnormal. I was extremely grateful that he went out of his way to tell me this. That night I took home the CO2 test.

A few days later Dr R1 rang me at home to tell me that all my tests were normal and he never wanted to see me again. This was quite scary because I might not be able to get another referral if my notes said I had no respiratory problems. His letter arrived a few days later and I found he had not mentioned my description of extreme muscle fatigue. He had listed the test results and I saw that the MIP was 57, below the cut-off of 60 which is used in many guidelines to diagnose hypoventilation. The overnight CO2 averaged 6.6, a figure nocturnal hypoventilation is also diagnosed from.  Dr R1 must have had his own values for these tests. He obviously did not believe muscle fatigue could cause a breathing problem, and then felt some conflict about my abnormal test results, which had annoyed him.

Three years later, just at the beginning of the Covid 19 pandemic, the neurologist referred me to a more specialist clinic and I had a telephone consultation with another respiratory consultant, Dr R2. The referral letter described my muscle fatigue which he knew was a common symptom of polio patients, but which I found out later. Dr R2 didn’t take any history and just said he wanted to do overnight oximetry although I told him my oxygen had always been normal. After the test, he rang me and shouted, “Your oxygen is normal, you can’t have anything wrong with your respiration”. I suggested maybe he should meet me before dismissing me, so he arranged an overnight CO2 test, lung function and arterial blood gas test (ABG) at his clinic. He dismissed the raised bicarbonate in the ABG test, which shows nocturnal hypoventilation, as normal, and put me in a ward where he knew I would not sleep so the CO2 test became irrelevant. In the report he said that I have insomnia and some shallow breathing at night from pain due to muscle fatigue, because he did not believe muscle fatigue could cause hypoventilation. But I experience very little pain and none at night. 

After such a disastrous experience, I managed to see another doctor for my follow-up. This consultant saw that my tests were gradually worsening and referred me to my local clinic, now that I had moved to another part of the country, to be monitored. When I saw them a year later, my tests were definitely abnormal and it was felt that I needed BiPAP treatment, a form of ventilation, right away. They saw that my lung function and oxygen were still normal, which sometimes happens in polio patients, but were open-minded enough to simply question where the abnormality lay and try the MIP test. It had now dropped from 57 to 33 which was seriously abnormal. I could now see the different kinds of thinking between doctors who develop rigid beliefs about symptoms and test results to simplify making a diagnosis and those who listen to the patient and try to find out what is causing the problem.

Back to Med Soc…

When I finished my talk at the conference, the doctor who had given the previous talk came up to me and said that my experience would never have happened in his country, Israel, where doctors know that muscle fatigue can cause respiratory problems. What amazes me about the studies I found on diagnostic reasoning is that they described very much what these doctors did, and it seems to be accepted as normal, even though this thinking is prone to causing misdiagnoses. Now I hope I have shown in some detail through my story how and why some of these misdiagnoses occur and how difficult and harmful it can be for the patient who may wait years for treatment.

References

Kostopoulou O, Mousoulis C, Delaney B. (2009) Information search and information distortion in the diagnosis of an ambiguous presentation. Judgment and Decision Making. Aug;4(5):408-19.

Zwaan L, Thijs A, Wagner C, Timmermans DR. (2013) Does inappropriate selectivity in information use relate to diagnostic errors and patient harm? The diagnosis of patients with dyspnea. Social Science & Medicine. Aug 1;91:32-8