There is something fundamentally wrong with a medical system that leads those who are training within it to believe that rare doesn’t happen. In chronic illness circles we often refer to ourselves as Zebras, which is in reference to the medical school phrase “ if you hear hoofbeats think horses not zebras”. It is to teach doctors that not every patient they see has a rare medical condition but has it gone so far in the other direction that they now see “rare” as a never event?
There was a question posed on a social media group I am part of over the bank holiday weekend around this subject. As you can imagine it provoked a flurry of responses. All of us come together in this group as we are suffering from rare conditions, perhaps our viewpoint is skewed because we are surrounded by “rare” conditions? I don’t think so, these groups contain 1,000’s of members based in the UK alone. Where newly diagnosed people join all the time. I am beginning to wonder that the figures used to ascertain the number of people diagnosed per year or the number per thousand diagnosed isn’t accurate. Possibly it’s because of better technology or testing is now available and we are still basing these figures on the number of people diagnosed with a condition before these better more reliable tests became available? Whatever the reason behind the inaccuracy some “rare” conditions aren’t actually that rare, they are massively under diagnosed and that is another source leading to inaccurate statistics.
Reading patient UK over the weekend, I saw that the number of people diagnosed with the rare autoimmune disease Sarcoidosis per year was 3,000 (the population of the UK is estimated at just over 65 million - ( source ) now I am crap at maths so can’t do all the percentages for you but you’d have to agree 3000 new diagnoses per year in a population of 65 million is quite small. Yet I know 3 people with this disease, not through social media but in actual real life. Now obviously there will be statistical anomalies, there always will be. However there are plenty of conditions that some doctors still class as rare yet aren’t, they are simply under diagnosed. What is even more frustrating is how simply some of these conditions can be diagnosed, crazily some can be diagnosed without the need for expensive tests, EDS hypermobility type and PoTs just being two of them.
When I first raised the possibility of EDS and PoTs with my old gp, I was told that EDS was too rare ( estimates at this time was 1 in 5,000 https://www.ncbi.nlm.nih.gov/books/NBK1279/) and would have been picked up in childhood, I was 37 and PoTs simply didn’t exist. He informed me quite confidently that everyone's heart rate increased on standing. When I tried to argue with him that I wasn’t talking about a 15-20 bpm increase but up to 80 bpm, he told me that wasn’t possible, despite all the data I had captured on my blood pressure monitor whilst performing a poor man’s tilt table test, proving otherwise. He simply couldn’t get his head around the fact that rare doesn’t mean it never happens and nor was he educated about the existence of PoTs. Instead he was happy to go along with the label already given to me as somatization disorder.
So many people are ending up with a psychiatric label instead of dr’s just admitting that they don’t know what they are dealing with. We have moved away from doctors listening to the clues their patients are giving them and now have a situation where they are relying on expensive tests for what is known as a “gold standard” diagnosis. If your condition doesn’t fit with the medical textbook then it is completely dismissed as a possibility. We have moved so far away from understanding that rare means it will happen but not often to thinking that rare doesn’t exist. It means that doctors are no longer seeing a patient with an open mind or realising that diseases/ conditions don’t read the textbooks they themselves are taught from.
I was lucky, I only had to battle for a year once I had worked out what was wrong with me (after countless hours searching on google, reading medical papers, joining patient forums etc) to get the test - a tilt table test, that would prove what I had been saying was indeed correct. It took paying for a private consultation to get the diagnosis of EDS hypermobility type (and even with the change in classification I still have EDS). However there are many other patients out there that have been desperate for a diagnosis for years being told that there is nothing wrong with them and that their symptoms are all in their heads.
The whole point of the saying “when you hear hoofbeats think Horses not Zebras” is to ensure that overzealous medical students don’t overlook the common conditions in the race to diagnose something rare. It doesn’t however say “if you hear hoofbeats always think Horses because Zebras are like unicorns and don’t exist”. Zebras are mentioned in the saying because although it is 9 times out of 10 more likely to be a horse than a Zebra, the odd Zebra will be seen during your medical career.
The problem of rare not happening becomes even worse if you're like me when you only tend to do the rare (or possibly massively under diagnosed) conditions. In 2015 I was told by my then consultant that I spent too much time on the internet looking up syndromes to have, this was after telling him I was feeling very unwell (much worse than normal) and that I knew something wasn’t right in my body. Reluctantly he ordered some blood tests to placate me, at the time I was concerned I may have PCOS (poly cystic ovary syndrome). What the blood tests found was that my level of prolactin in my blood was too high (it’s a hormone that is produced by the body when we lactate / breast feed or it can be because you have a pituitary gland tumour). I never did get to the bottom of why my prolactin levels were high but a few months later another blood test showed that I had abnormally low luteinizing hormone. That is the hormone that is needed to produce eggs from your ovaries. It can indicate premature ovarian failure, unfortunately due to me then having a spontaneous cerebrospinal fluid leak investigations went no further. I was too unwell to be worrying about what my ovaries were doing when my head felt like it was going to explode on sitting up or standing. So in the space of a year I had two rare(ish) conditions on top of EDS and PoTs (the luteinizing hormone being low could have been due to the raised prolactin.) Now who says lightning doesn’t strike twice? In my family we only seem to do rare or rare presentations of common conditions.
I have been lucky in the last few years, that 99% of the doctors I have seen have understood that rare can and does happen. I have only had an issue with one dr in the last two years, someone who was supposed to be an expert yet within a few seconds of me being in the room it was clear that he wasn’t. Now when I come across those situations I don’t argue with them, I just do my dumb blonde act. There is no point trying to educate a person like that, as their mind is closed off. You are but a meer patient and have no knowledge as far as they are concerned. I suppose you could say that I pick my battles now. I don’t have the energy to waste on fights that I have no chance of winning. I now change doctors (when it is possible) or see my gp to explain what has gone on, to try to ensure that I don’t have to see that dr again. I am lucky, many people I know don’t have that kind of support from their gp and everything is a battle. I don’t take it for granted though as with my gp leaving back in February I don’t know what kind of support I will get in the future.
Thankfully on the day of finalising this piece I saw a new gp and the appointment went very well. I finally bit the bullet and decided after several days of horrendous back pain (which I have bored you all stupid with) to book an appointment. The upshot is I have to go back tomorrow (today for those of you reading this) for blood tests to ascertain if my inflammation markers are elevated plus I haven’t had any bloods done for about a year and they like to see what’s going on. The gp is also organising for me to have an x-ray of my back as it is just so tender to the touch, that I yelp and leap out-of-the-way when even just light pressure is applied. I have to go back once the x-ray has been done.