What Is Ehlers-Danlos Syndrome?

Ehlers-Danlos Syndrome is a genetic disorder that affects the connective tissues made of collagen in the body which include the joints, skin, and blood vessels. The condition is very rare (my kind affects 1/10,000-1/15,0000) , and is represented by the zebra because the phrase, “When you hear the sound of hooves, think horses, not zebras” is taught to medical students throughout their training so they can draw the most generally accurate and common diagnosis from a set of symptoms, so as not to worry about the most bizarre diagnoses that are rarely the case. Ehlers-Danlos is the exception to that rule- it’s the zebra. It can cause severe musculoskeletal pain which can make everyday things that most people don’t even think about become a very painful experience. For me, holding my head up and even moving my eyes causes pain because of the hypersensitivity that affects my whole body. I bet you didn’t even realize how much you’ve been doing both just in reading this!

There are seven subtypes of Ehlers-Danlos Syndrome, and I have the hypermobility subtype. The thing with this genetic disorder is that the same subtype will be passed down through the generations with a 50% chance of it manifesting in the posterity, but it will always be the same subtype unless another subtype is brought into the gene pool by another parent. My disorder is prevalent in myself, mother and sister, each displaying different symptoms within the same disorder.

Invisibility does not mean invalidity.

With hypermobility, “double jointed’ or overly bending joints is common. People who know me know that I am flexible. Before it all got out of control, I was able to cartwheel and land in the splits and play the piano backwards with both feet behind my head (crazy, I know). I mean, we all accepted I was a weird kid, but you don’t just go into the doctor’s office and explain that as a symptom for chronic headaches, because then they’d really think you’re crazy. While there truly was something very real underlying, many doctors already thought I was crazy to some extent because a skinny teenage girl with invisible symptoms and no explanation simply must be depressed and just seeking attention. Not always, and not all doctors, but this is why it is so important to know- invisibility does not mean invalidity.

Now that you’ve read these three paragraphs, you can remember that when you see a person walking and looking normal from a handicapped parking spot we all secretly are envious of in a parking jam, you might think twice before immediately dismissing them for hypochondriacs. Before understanding this first hand, I have been guilty of the same. The truth is, you never know what their story is, and just because you can’t see what they are going through doesn’t mean that it isn’t just as real to them as your own struggles. I think like books, our stories often go under cover because we try to conceal our struggles and sometimes our successes, too. We all have a different story, so think twice before you judge a book by its cover! We are all learning to write our own stories, and the best part is we get to write our own. Keep working through your struggles, whether you are under cover or an open book- your story is a masterpiece in the making. Stay beautiful!

#EhlersDanlosSyndrome #writeyourstory #staybeautiful #invisiblityinvalidity

Learn more about Ehlers-Danlos Syndrome here (and here for a less medical, more English/not doctor language version).