Today is International Rare Disease Day, a day designed to highlight rare diseases and the particular difficulties patients with rare diseases face, in gaining diagnoses, and in finding appropriate treatment.
What does it mean to be rare, or to be considered rare?
- (of an event, situation, or condition) not occurring very often.
“a rare genetic disorder”infrequent, few and far between, scarce, sparse, scattered, thin on the ground, golden, like gold dust, as scarce as hen’s teeth; (of a thing) not found in large numbers and so of interest or value.
2. (of a thing) not found in large numbers and so of interest or value.
“one of Britain’s rarest birds, the honey buzzard”
unusual, uncommon, unfamiliar, out of the ordinary, atypical, singular,remarkable, recherché, special, precious
3. unusually good or remarkable.
“he plays with rare sensitivity”
exceptional, outstanding, unparalleled, peerless, matchless, unique,unequalled,
incomparable, unrivalled, inimitable, beyond compare, beyond comparison, without equal, unsurpassed, surpassing, exquisite, superb, consummate, superior, superlative, first-class, first-rate, special, choice, excellent, very fine;
Are those with rare diseases sparse or unrivalled, singular or exquisite? What does it mean to be labelled as such?
My partner’s mother has a genuinely rare disease, a kind of vasculitis called Wegener’s Granulamatosis. She had a lot of difficulty getting diagnosed. Her symptoms worsened and irreparable damage was caused during the time that a consultant failed to check biopsy results, precisely because he was so sure it was too rare to be possible.
Neither of the genetic diseases I have – Hypermobility type Ehlers Danlos Syndrome (H-EDS or EDS HT) and Haemochromatosis – are actually rare, although they are both treated as such, which raises the same problems. In some countries EDS is officially considered a rare disease, but I would suggest this has more to do with the failure to diagnose it than with the actual number of people with it. Consider this – for every person diagnosed late in life, with no other family member already diagnosed, there is a whole family of potential sufferers to take into account. There are a lot of undiagnosed people with EDS. Currently physicians at all levels consistently fail to recognise hypermobility in patients or ‘establish its clinical importance’. Specialists now argue that EDS-HT is ‘the most common, though the least recognized, heritable connective tissue disorder’. Many sufferers are misdiagnosed or dismissed as hypochondriacs or depressives, receiving mistreatment or no treatment. As Marc Scheper et al note, even a positive diagnosis of EDS is ‘often received with skepticism and disbelieved due to lack of awareness of these diseases, which further adds to the suffering of patients.’
This affects every stage of our treatment. I had to wait until I was 34 for a diagnosis, and now have to pay to travel to London for clinics, because there are no specialist clinics elsewhere.
I thought things would get easier after diagnosis. In some ways they have, but the continual battle against ignorance is crushing. I expect ordinary people to not know what EDS is, but it would be really wonderful if medical professionals knew. On recent trips to hospital, I’ve had to write out Ehlers Danlos Syndrome for a nurse who had never heard of it (I was too ill to spell out loud!); explain to a doctor why this means I go over on my ankles without wearing ‘unsuitable shoes’ and that my injury was not the fault of foolish womanly behaviour (don’t get me started on the basic misogyny encountered in the health system); explain why EDS means I break bones easily; explain why small accidents make big injuries for me; explain over and over again how it affects my blood pressure and makes me faint and why this is important; show off my EDS skin symptoms to my Haemochromatosis consultant and his assistant.
Hereditary Haemochromatosis (HH) is completely and utterly in no way rare, yet almost unbelievably, it is still treated as such by the medical profession, who seem to know very little about it, and not test for it. The simple blood test for ferritin and transferrin saturation that show HH up could be done as routine on every blood screening, and save the 1 in 200 people with the genes for it in the UK from years of suffering and pain, and from the life-altering consequences of the diabetes, heart-disease and liver disease that are common products of untreated HH.
For both EDS and HH it is largely misconceptions about the diseases which stop doctors from looking for them – not just the primary misconception that they are rare, so not worth checking for (which bares deep scrutiny as a position in itself) – but also outdated ideas about what to look out for, or the kind of people that may suffer. With EDS, for example, a lot of cases are missed because they are not as extreme as the text book cases. This article is excellent on the history behind these ideas, and calls for correction and reassessment of the diagnostic procedure. With HH, younger women like myself are often discounted because of the idea that we get rid of the extra iron through menstruation. This assertion makes the common mistake of assuming all younger women menstruate regularly and consistently, which anyone who has ever spoken to more than one woman about menstruation will surely know is not the case. With diseases considered rare, it is more important than ever for doctors to check their assumptions and actually speak to the patient; treat the patient as an individual not a statistic.
So this Rare Disease Day I’m asking everyone to think not only about diseases which really are rare, but those which aren’t, and should be recognised as not being rare. The forgotten or overlooked diseases. The misunderstood diseases. The symbol for EDS is a zebra, referring to the old adage that medical students are taught: if you hear hoof beats, expect horses not zebras. Zebras do exist though. Sometimes those hoofbeats will belong to a zebra, or a donkey, or a Marwari, or any number of other hoofed creatures. It’s time doctors were taught to distinguish between different hoof beats, to look at the evidence in front of them, and to consider all options, rather than assume all animals are horses.
 Rodney Grahame, ‘Hypermobility: an important but often neglected area within rheumatology’, Nature Clinical Practice Rheumatology, 4 (2008) , 522-524 (p.523) http://www.nature.com/nrrheum/journal/v4/n10/full/ncprheum0907.html [accessed 10 Jan 2016]
 Marco Castori, ‘Ehlers-Danlos Syndrome, Hypermobility Type: An Underdiagnosed Hereditary Connective Tissue Disorder with Mucocutaneous, Articular, and Systemic Manifestations.’ ISRN Dermatology, (2012)
 M. C Scheper, J. E de Vries, J Verbunt and R.H. Engelbert, ‘Chronic pain in hypermobility syndrome and Ehlers–Danlos syndrome (hypermobility type): it is a challenge’, Journal of Pain Research, 8 (2015), 591–601 http://doi.org/10.2147/JPR.S64251 [accessed 10 Jan 2016].
5 thoughts on “On Rarity”
I have been just diagnosed with both
EDS and Hemochromatosis.
I am 51.
Hello love! I am also EDS and hemochromatosis. 26 years old. This is a great perspective. You took the words out of my mouth! Stay strong.
Great to hear from you – glad (is that the right word?!) it resonated. I think there are probably quite a lot of us with both – hoping one day we’ll be recognised as not so mythological after all. All v best to you and hope you’re doing as well as can be.
I have Ehler Danlos. Diagnosed around 48 years of age. Finally so much made sense 7 family members now also diagnosed. Also suggested it was their issue to 3 others who now all have medical diagnosis of it. Husband recently diagnosed with hemochromatosis. Pretty sure oldest son has both. Trying to learn what I can about those 2 conditions in one person.