An Underdiagnosed Condition
I’ve been struggling with chronic pain and fatigue as well as circulatory and digestive issues for roughly over a decade now, with these symptoms getting worse over time. This is because I have hEDS (Hypermobile Ehlers-Danlos Syndrome). I inherited it from my mother who also has it. It is considered a “rare” condition in general but it’s the most common type of EDS out of the thirteen that there are. This could be the first time you’re coming across the condition, if so I would not blame you. I’ve encountered doctors who have never heard of it. Yet it seems like everyday I’m meeting someone new with the condition, such as my partner and his family, and in my friend group alone there are five of us with the condition. So what’s the big deal? It could be just a coincidence.
But what if I told you it wasn’t? What if I told you EDS is far more common than people believe?
From my own personal experience, my siblings and that of my friends, getting a diagnosis is an uphill struggle full of medical practitioners either brushing aside your concerns or stating that it’s not worth going through the process of diagnosis. But why is this? Maybe it’s because the NHS is overwhelmed or perhaps it’s because EDS can’t be cured, just managed. And the “tests’’ they do for diagnosis are not even 100% accurate since it’s a genetic condition. They look at your medical history and then subject you to a points-based physical assessment. “Can you bend your thumb to your wrist? Can you touch the floor without bending your knees?” etc… It doesn’t take into account that though EDS does in fact cause hypermobility, it can also cause hypomobility (where joints have less than average mobility) as well. But there is an accurate test they can perform — a DNA test — but they do not due to the price of one test being rather expensive.
Is it dangerous to not get the diagnosis?
Yes. Very recently when calling 111 (the UK’s non-emergency medical line) about chest pains, they asked if I had EDS due to the heart issues it can cause. I couldn’t answer them clearly because though my GP believes I have it and it is present in my immediate family, I do not have the official diagnosis from a Rheumatology Unit. EDS affects your collagen and can cause more issues than being overly bendy. It can give you circulatory issues — in fact Raynaud’s Disease and Postural tachycardia syndrome (PoTS) are common comorbid conditions for those with EDS. Currently I am being investigated for a possible heart condition that could be from EDS, but only because I insisted that they at least do an ECG for my palpitations. Now I know that I could very well have a sometimes fatal arrhythmia. EDS can also affect the thickness of your vascular tissues, making them tear easier than the average person which leads to easier bruising and hemorrhaging.
And let me tell you, trying to get what you need to manage the symptoms without the formal diagnosis is also a pain. Because guess what, EDS can make you sensitive to pain medication or make you resistant to it. Now if you fall into the sensitive category, you’re rather lucky in that your GP will be able to manage your chronic pain rather easily. However, if you’re like me and fall into the second category… I am sorry for you, truly. Without the diagnosis the prescription pain medications I have access to are limited and so far ineffective. The real kicker is this means you’re most likely resistant to anaesthetics too as they work in a similar manner. This means that going for an operation is a risk factor as doctors could accidentally overdose you in order to make them work as they should, same goes for if you need stronger pain medication while in the hospital. This happened to my mother when she was in labour with my older brother, they overdosed her on the pain medication they provided her, and due to the shared blood flow between her and my brother through the placenta, they overdosed him too. This led to him being born blue and needing intervention. Bare in mind these are just the dangers me and those I know have encountered and that’s just for hEDS. As mentioned earlier, there are thirteen types out there with varying degrees of severity and all of those are even less diagnosed.
So what can be done?
On an individual level, not much other than being stubborn about being referred to Rheumatology to get that diagnosis. Some people give up on getting it through the NHS and raise/save up the funds to be seen by a private practice. But this shouldn’t have to be the case. In an ideal world, our public health care would be well funded and staffed and would be able to provide the services necessary for a smooth diagnosis. GPs would be better informed as not all even know EDS exists. Patients would be able to do their own DNA testing if they wished and have the results added to their medical records as a diagnosis. If that patient goes on to have children, those children should be suspected of having EDS as well since there is a fifty-fifty chance of it being passed down. So it would be logical to refer those children at a reasonable age, likely thirteen as that’s when most start showing worsening symptoms.
There is more that could be done to help people with EDS after diagnosis, as most patients go on without further care unless they pester. If there was a streamlined process of diagnosis followed by a referral to physiotherapy, cardiology and the pain clinic, people who suffer from EDS could see a significant increase in quality of life. On top of that, mobility aids and supports should be subsidized by governments as they can be ludicrously expensive, especially if you are unable to work and rely on benefits.
In conclusion:
Underdiagnosis is a problem that affects more than just EDS. Other chronic conditions such as fibromialgia, endometriosis and more are similarly underdiagnosed for various reasons. Fibro because it can’t be cured. Endo because the cure is a hysterectomy and medical institutions do not like to perform those on premenopausal people even if it would increase the patient’s quality of life. Something about “What if they want children in the future?” as if adoption doesn’t exist.
This does not mean that all “rare” conditions are not rare. Because there are thousands of actually rare conditions out there but sometimes some conditions are rare due to infrastructural laziness which surrounds invisible disabilities. For example, once upon a time autism was thought to be a rare condition that only affected young white boys, but now with better diagnosis criteria and screenings we know it’s a fairly common condition that can affect anyone.
So, if you’re noticing your joints are a bit bendier (or less so) than your friends’ and colleagues’ but you have family members like you, it might just be that you have hEDS — “The most common rare condition”. Might want to get that checked. Here’s some resources for you:
