Ehlers-Danlos syndrome was a disorder I had never heard of in my youth. Growing up it wasn't something you heard mentioned like Jimmy's peanut allergies or Susan's asthma. Honestly even now as I'm older, while I do hear it more often, many people have no clue what I'm talking about if I bring it up. How, I wonder, could something that affects so much of the body stay so hidden from the public eye?
Ehlers-Danlos syndrome is a collective of connective tissue disorders that can be genetically inherited through both dominant and recessive means. This unusual inheritance pattern is due to the fact that there's 13 different sub-types of EDS-- 12 of them dealing with multiple different identified genes in the body and 1 still considered a mystery. These 13 different issues are all linked back to that key idea of connective tissues-- a more prevalent tissue than most people know.
Connective tissue for me first brings to mind collagen-- which is a major component of many of the disorders within EDS. However it's also muscles, airways, veins and arteries, eyes, and even the biggest organ of all- your skin. A whole host of issues comes tumbling down on people with this disorder, from tops of heads to tips of toes. Hypermobile limbs, floating bones, elastic extra skin, development milestone issues, and even heart valve and organ rupture problems.
Yet still, if you ask the average room no more than one or two people will know what Ehlers-Danlos syndrome is.
Even with an estimated incidence of all types being 1/2,500 to 1/5,000 births, EDS suffers from the issue most chronic illnesses do: under diagnosis. Chronic illnesses of many types suffer from this issue. In a study of people who might have COPD, it was found that in the 205 diagnosed with it only 67 knew they had had it previously. This can also be seen in things like depression, which is finally getting the spotlight for how common its symptoms actually are in society-- things people had just seen as stress and sadness bringing to light a whole chemical imbalance issue they might have never gotten treated for otherwise. Overlapping symptoms with other issues and somewhat mild presentations of obvious EDS exclusive ones lead to misdiagnosis and stress for patient and doctor alike.
As many of us are interested in the future of health and it's associated careers, I use this syndrome as a tale of caution. Listen to your body. Listen to your patients and your friends. Look for hidden links in places you might have not thought to look before. One woman waited 47 years to be properly diagnosed with her form of EDS, and truly suffered for it. Our job is to lessen the burden of illness on society, and these hidden chronic issues are the root causes of some of the most suffering. We can't let them continue to hide.
References:
Ehlers Danlos Syndromes - NORD (National Organization for Rare Disorders). (2018). NORD (National Organization for Rare Disorders). Retrieved 7 March 2018, from https://rarediseases.org/rare-diseases/ehlers-danlos-syndrome/
Ehlers-Danlos syndrome: My 47-year search for the right diagnosis. (2018). Patients Rising. Retrieved 8 March 2018, from https://patientsrising.org/ehlers-danlos-syndrome-diagnosis/
Falagas, M., Vardakas, K., & Vergidis, P. (2007). Under-diagnosis of common chronic diseases: prevalence and impact on human health. International Journal Of Clinical Practice, 61(9), 1569-1579. http://dx.doi.org/10.1111/j.1742-1241.2007.01423.x
Hill, K., Goldstein, R., Guyatt, G., Blouin, M., Tan, W., & Davis, L. et al. (2010). Prevalence and underdiagnosis of chronic obstructive pulmonary disease among patients at risk in primary care. Canadian Medical Association Journal, 182(7), 673-678. http://dx.doi.org/10.1503/cmaj.091784
Parapia, L., & Jackson, C. (2008). Ehlers-Danlos syndrome – a historical review. British Journal Of Haematology, 141(1), 32-35. http://dx.doi.org/10.1111/j.1365-2141.2008.06994.x
The Ehlers-Danlos Society. (2018). The Ehlers Danlos Society. Retrieved 7 March 2018, from https://www.ehlers-danlos.com/
Now that you mentioned it, after a few google images, I realized I had some friends who definitely had EDS. They thought it was fun to show off their freaky joints and skins. From now, I'll definitely bring their attention to the disease, convince them to maybe get tested for a more severe version of EDS.
ReplyDeleteHow interesting!! If you don't mind, may I ask, why do you care about this disease specifically?
I don't mind at all! I mostly know and care about it because one of my friends growing up had a pretty severe version of EDS that caused their bones to float out of place sometimes. Obviously, this causes a bit of a problem for them, and they struggled to explain to other people why they had to be so careful with their body due to the generally unknown nature of the illness. My family also tends to display traits pretty similar to a form of EDS that's less dangerous, but we've never been tested.
DeleteBoth of these facts just really peaked my interest with EDS and made me question just how many people might not know they have it in some form too! Like you said, what some people think is just a fun party trick with their joints could be a really big problem in the future.
This seems like an interesting disease and certainly not one I have ever heard of. I agree with you when you say we need to draw more attention to chronic illnesses. It seems there are a few chronic illnesses that get a lot of attention but the rest are simply left in the shadows. It's almost as if physicians are afraid to give unusual diagnoses. This is a problem we need to fix because doing so will allow our healthcare to better for everyone.
ReplyDeleteOne of my childhood friends has a more mild form of this disorder, but it made it very difficult for him to play the sports he loved and that lead to the onset of depression. I agree with you that I’ve never heard anyone outside of our friend group talk about the disease and if not for knowing him, I would likely be completely unaware as well. It’s hard, when there are so many genetic disorders out there, to be fully aware of every single illness.
ReplyDeleteIt's truly sad about your friend- several of my friends also struggled with tasks they enjoyed due to their EDS. I believe it's for them that we need to work on getting more awareness out there! Every little thing counts, as they say. It won't be easy, but I think we'll all benefit from a little more knowledge on these kinds of topics.
DeleteWow! This is very interesting. I personally do not know anyone with this disorder, but I really enjoyed reading this blog. It is amazing that this relatively common (compared to some of the disorders that we learn about) and I have never heard a peep about it. Many chronic illnesses (COPD, asthma, etc) receive a lot of attention but you are correct in saying that there are many that go unrecognized and deserve a lot more attention.
ReplyDeleteAs many people are involved in healthcare and other associated fields, the goal of any professional is to try to cure and save every patient. There are so many diseases out there, and each set of symptoms can have so many differential diagnoses! EDS is just another example of a disease that can kills painfully and terribly. This is probably the most frustrating part of working in healthcare: no matter how hard you try, it's impossible to save everyone.
ReplyDelete