Ehlers-Danlos Syndrome is complicated, and surrounded by misconceptions and simple lack of knowledge. So, as part of raising awareness for EDS is always going to be explanation. After searching for answers for nearly two decades, I've learned perhaps just a little bit about what all EDS entails. Here, I hope to make the seemingly impossible to understand, a little bit simpler. What, exactly is Ehlers-Danlos Syndrome?
EDS is, at its simplest, a genetic syndrome that affects the connective tissue in the body. The human body is made up of four main types of tissue: connective, epithelial, muscular, and nervous. Having connective tissue that is the result of mutation means that one of the main building blocks of our body is faulty.
Most commonly, people think of connective tissue as having to do with the joints and even sometimes the elasticity of the skin. While this is true, connective tissue is so much more than just that. There are seven types of connective tissues: cartilage, bone, adipose, blood, lymphatic, elastic, and fibrous. In other words, EDS affects the entire body, not just the joints and skin. But being able to identify the joint and skin related issues can lead doctors down the right path.
There are really only a few visual tells for EDS, which in turn, make it extremely hard to diagnose without a geneticist's help. The visual cues for most people with EDS revolve around hyperextensibility. Simply put, we're stretchy. Our skin tends to be soft and velvety, and we get stretch marks without a discernible cause (i.e. stretch marks before puberty, with no weight gain, or without pregnancy). And we're flexible in that contortionist sort of way. The range of motion of our joints is more than it should be. (Joint mobility can be assessed easily with the Beighton Scoring System.) There is also the possibility of easy bruising and scarring due to blood vessel weakness and skin weakness respectively.
As for the other symptoms of EDS, they're invisible, and everyone's experience is unique. I personally suffered from fatigue and misdiagnosed "growing pains" from a very young age. From there, the syndrome progressed as my digestive system began having trouble processing food and the "growing pains" became a daily occurrence of just outright pain. In my next blog, I will talk about how to make the invisible visible, at least to an extend that we can better understand what our bodies are going through.
If you have any questions, feel free to comment and I will answer them to the best of my ability!