Today is Rare Disease Day. Normally held on Feb 28th each year, this year is a leap year so it’s held on Feb 29th. Which makes it extra rare. So, I’m going to attempt to write something, while sick in bed.
A disease is defined as being rare if less than 1 in 2000 people suffer from it. So, under that criteria, Ehlers Danlos Syndrome is officially rare. It’s prevalence is officially 1 in 2500 to 1 in 5000 people. Which doesn’t sound like a lot, but in Ireland it adds up to over 1000 people.
But, they’re just the people who are officially diagnosed. It took me 36 years to get diagnosed. It’s clear to me that my mother, who is 64, suffers from it too. But she is not pursuing diagnosis. Especially since each component of it, eg joint pain, IBS, fatigue etc are treated the same as you’d treat someone without the condition. (Except maybe exercise/Physio, where you need to be aware of the Hypermobility in the joints and not stretch things too far.) My two sisters and brother are showing symptoms too.
And that’s just in my family. I know many many families where one member is diagnosed but it’s clear that others in the family have inherited the condition as well. There is a lot of heterogeneity with this condition, so some people may have it very mildly and fly under the radar. But it can also worsen almost overnight. So, where someone might not has been diagnosed when they were younger, they may suffer greatly when they get older. And as people’s joints naturally stiffen as they get older, these people may find it difficult to get diagnosed.
And that’s not factoring in all those who have been misdiagnosed with other conditions, and who may not have any diagnosed family members to hint at what they really have. I’m thinking of all conditions such as fibromyalgia and CFS especially, as well as IBS. These people may not be ‘misdiagnosed’ as much as the condition that is underlying their illness has been missed. It is estimated that up to half of those with fibromyalgia may also have H-EDS*. As for CFS, many of these patients actually have POTS, which is often associated with, and caused by, H-EDS. Similarly, gastrointestinal issues caused by EDS as often labelled IBS.
So, when you add up all the undiagnosed and misdiagnosed, it becomes clear that the prevalence of H-EDS is much higher than 1 in 2000. Prof. Rodney Grahame estimates that only 5% of those with EDS are diagnosed. He claims that the true prevalence is closer to 2% of the world’s population.
The zebra is often seen as the symbol of rare diseases. But if H- EDS prevalence is actually 2%, does that mean I’m actually a horse? For the moment I get to keep my stripes, but who knows… I may be a horse in disguise! And while I like being a zebra, having more people diagnosed with hypermobilty EDS may lead to better awareness and ultimately more resources for those of us diagnosed with this condition.
*hypermobilty type EDS
UPDATE: I need to clarify that in this blog post I’m talking only about the hyoermobility type of EDS. There are many other types and these ones really are, and probably always will be, rare. Some extremely so.
[image is of a brown horse with a light coloured mane, standing in a green field. It’s head is in profile and one eye is visible, which is looking straight at the camera. ]