Thursday, 15 September 2011

Sometimes it's zebras

Today my medical school did something right. They do that from time to time. Well, not the med school, a consultant from one of the teaching hospitals, but I've decided it can count in the med school's favour.

This afternoon we had a session on SLE (lupus) and a bit of immunology. Part of the session was led by women from a local support group. It was a very good session - both useful in passing exam terms and useful in being a good doctor terms.

It was especially interesting for me hearing these women discuss their experiences of diagnosis. The average length to diagnosis of lupus in the UK is between 7 and 8 years. One of them summed it up well as "my doctor thinks I'm a hypochondriac - one week my leg hurts, the next I've got a rash".

I can't tell you how good it is to hear someone essentially telling my colleagues that "sometimes hoof beats are actually zebras"*. It is something that I think people need to hear. A lot of med school is pattern recognition (weight loss + polydipsia + polyuria = diabetes) and based on excluding the worst possible diagnosis (as in first you consider if a headache's a bleed, infection etc that could kill you today, then a tumour that would be fatal if untreated, then something that's likely to recur / cause serious problems like cluster headaches or migraine, and so on).

It would be ridiculous if we left med school thinking that every joint pain is caused by Ehlers-Danlos, but it is equally ridiculous to me that most doctors attidue to joint pain is "it's not septic, it's not rheumatoid (both potentially very serious if untreated), it's OK". It's bloody not. "It's not rheumatoid, so that's good", to quote the rheumatologist who diagnosed me illustrates this problem quite well. Yes, I am glad that I don't have rehumatoid, but my condition can also be very disabling and can also cause a wide range of systemic effects. I was stunned that she could say that when I had told her how much I'd been struggling - it made me feel completely invalidated.

I have had telltale signs of EDS since I was born, and it took until age 23 to be diagnosed. I first saw a doctor about fatigue at the age of 13, I had been telling my doctor I'd joint pain for 3 years before I saw rheumatology.

The attitude that "it's not one of the big nasties, so it's OK", that a vague constellation of symptoms indicates hypochondria and that a diagnosis is too rare to apply to the patient in front of you, is understandable (we're taught to think like that) and incredibly frustrating to deal with from a patient's POV.

I am looking forward to reading the Rare Disease UK strategy for dealing with the need of those with rare diseases, when it is completed. I don't mind that my GP didn't know what EDS was. I mind that he dismissed my joint pain because he didn't know what was causing it, and I mind that since my diagnosis he has not done anything to learn about it. To my mind those are two good learning points from my case, and the discussion this afternoon.

*It is often said in medicine that "if you hear hoof beats, think horses not zebras", that a common condition is more likely than an uncommon one


  1. Speaking as a fellow Zebra, I know what you mean. I half-dread meeting a new doctor or nurse, because they invariably end up asking about my condition, which is a 'once in a career' type thing. Not only do they invariably fail to understand it (to the extent they have no idea what physiological process is messed up), they try to rediagnose me with something they've heard of (narcolepsy, depression or apnoea, with only the first being within arms reach).

    I actually changed GPs because of my Zebraness. Recently they've started putting up signs saying they won't prescribe hypnotics, sedatives or opiate analgesics to 'young men'. As a 'young man' with a very rare neurological sleep* disorder, that's... alienating, and a good way to ensure I'm not comfortable discussing my condition with them. Not to mention the insinuation that I'm a crime on feet isn't particularly welcome!

    *which is particularly fun, because you get to constantly hear about peoples aunties who drink warm milk before bed, which means you just aren't trying hard enough.

  2. Blanket refusals to prescribe sleepers is really irritating. I did placement at a practice who had signs sayingthat they would only prescribe in exceptional circumstances, and instead offered (same week) appointments with a psychologist who taught relaxation techniques / sleep hygiene. I thought that was a great system. But it wouln't have been useful for me, nor for you, and they recognised that.

    I had a locum tell me a couple of months ago that all I needed was to take ibuprofen and lose some weight. She then admitted that she'd never heard of EDS. *sigh*