Um, What is Ehlers-Danlos Syndrome?

Dear readers,

Right now, I am battling a challenging flare-up of all of my symptoms. After a few very busy weeks at work, I’m struggling with a recurrence of my uveitis, and pain throughout my body caused by my other main condition; Ehlers-Danlos Syndrome.

I was attempting to explain what this condition actually is to my optician the other day when I realised that I have never explained in any great detail what Ehlers-Danlos is, and why it affects my life in such a profound way. You can check out my very first post, ‘Into the Maelstrom’ for a brief introduction, but today I wanted to take a deep dive.

Ehlers-Danlos Syndrome (EDS) is not a joint condition. It’s a connective tissue disorder. There are currently 13 different types of EDS, categorised based on the different effects which faulty connective tissue can have on the body. For example, hypermobile EDS, which is the most common type, primarily affects the flexibility of joints. Vascular EDS primarily causes problems with the cardiovascular system, such as fragile arteries. The rarer kyphoscoliotic EDS causes curvature of the spine. However, these types often have overlapping symptoms and commonalities because they share a common cause; weak connective tissue. People with all types of EDS often have hypermobile joints, stretchy, fragile skin, and digestive problems caused by weak or floppy connective tissue.

The complications associated with having weak connective tissue are many. Joints bend far beyond the normal range of movement, causing chronic pain, dislocations and other injuries. Veins and arteries can struggle to carry blood around the body, and can even rupture, causing problems that range from dizziness to internal bleeding. Internal organs can tear. Even people like me, with the least severe and most common type of EDS, can suffer a range of complex and scary symptoms. My constant joint pain is my main concern, but I also experience difficulty walking, dizziness, heart palpitations and acid reflux because the connective tissue holding my entire body together just doesn’t work as well as it should.

This wide range of symptoms can also make EDS extremely hard to diagnose. It can take years, and potentially decades, for your average EDS patient to find the right doctor who can piece their symptoms together to form the correct picture. I was misdiagnosed with different types of arthritis before being given my diagnosis, and other people can face diagnoses such as depression, fibromyalgia and a wide range of heart conditions before the truth is found. In some cases, children’s EDS symptoms (such as dislocating joints and skin which bruises extremely easily) have been mistaken for signs of child abuse.

The cause is genetic. For the vast majority of types of EDS (hypermobility excluded) specific genetic tests can be done on patients to see if they possess the mutations associated with that type of EDS. This means that there is no cure; there is no undoing of complex genetic mutations. So for patients, it’s about working with doctors to manage the symptoms, and prevent further complications.

For hypermobile EDS patients, this typically involves a combination of painkillers and physiotherapy designed to strengthen the muscles around the joints to combat their inherent floppiness. I went through physiotherapy and hydrotherapy to strengthen the muscles in my core and limbs, so that they could better hold my joints in place. For those with other types of EDS, management techniques can include screening for aneurysms caused by weak arteries, wearing assistive braces to prevent joints from moving out of place, and even surgery to correct curved spines. Common medications include painkillers and blood pressure medication, although I’ve also been given steroid injections in places where my joints have slipped out of place and caused inflammation. The exact treatment of a person’s EDS will depend entirely on their unique symptoms, and there is no magic cure.

So there we have it. A simplified run-down of what Ehlers-Danlos Syndrome is, how it’s spotted and what the future holds for those of us who have it. I hope that, for the uninitiated, you have learned something useful which will help to put the content of the rest of my blog into context. I hope that by offering a brief explanation of what the condition is, you will understand why it has such a profound impact on my life, to the extent that my diagnosis has affected every life choice I’ve made since the age of 17.

Next week, I’ll talk about my upcoming holiday! Stay tuned for some more positive material!

Thanks for reading,

Rebecca