ehlers danlos syndrome · Uncategorized

Ehlers-Danlos Syndrome Part 1- Diagnosis

On October 25, 2016 I was diagnosed with Ehlers-Danlos Syndrome Hypermobility Type after a life of declining health and a growing list of medical conditions. Ehlers-Danlos Syndrome is a group of connective tissue disorders caused by defective collagen. There are 13 types of EDS, three of them are the main types with the Hypermobility Type being the most common. The other two more common types are Classical and Vascular. Out of the 13 types, 12 can be diagnosed by genetic testing, one cannot. That would be the Hypermobility Type, go figure. The Hypermobility type of EDS can cause joint subluxations, dislocations, soft skin, stretch marks, Fibromyalgia, Irritable Bowel Syndrome, chronic pain, headaches, Interstitial Cystitis, among many other issues.

The process of this diagnosis wasn’t easy. I’ve had pain for as long as I can remember. When I was in the 6th grade, I subluxed (partially dislocated) my knee. In middle school I started having chronic headaches and knee subluxations. In high school I developed Irritable Bowel Syndrome, chronic migraines, increased pain, and I started passing out. Senior year I was named “Class Klutz” because I was always messing up my knee, and spent the majority of my high school life using crutches. It seemed like as time went on, I kept getting diagnosed with all these conditions; Irritable Bowel Syndrome, migraines, syncope, Fibromyalgia, joint hypermobility…so many conditions. I started to think, could they be connected? Well, during most of these sub diagnoses, I had a pretty crappy primary care doctor. His favorite thing to tell me was that everything was “all in my head”. I ended up reporting him and he magically left the practice about a month later. The primary care doctor I had after that wasn’t too helpful either, for the last 8 months she was my doctor, she was convinced I was pregnant and/or had STDs. All because I had stomach and bladder issues I should have reported her, I don’t know why I didn’t. I left that practice about two years ago, and now I get incredible care. I had seen my new primary a few times, but one day I decided to ask her if all these diagnoses could be connected. She told me yes, and that she had recently done some research about Ehlers-Danlos Syndrome, and she thought I may have it. I had known about EDS for a couple years, and an online friend kept urging me to get evaluated for it, but I didn’t think I’d get the diagnosis because I wasn’t flexible.

My primary care sent me to see a geneticist and after a 5 month wait, I got to see her. I got my hEDS diagnosis 5 weeks after. I had asked her how I could have it even though I’m not flexible and she told me that my joints are hypermobile, and my muscles do so much work keeping things in place/stable that they are tight. You can have hypermobility and not be flexible- it really depends on the muscles. I had genetic testing done to rule out the other types because some of them can be life threatening/have a shorter lifespan/have more complications involved. They are currently working on finding the gene that causes the Hypermobility Type. She also did a physical examination to check which joints were hypermobile, which skin issues I have, and to see other physical characteristics I have that relate to hEDS.

Let me tell you, it is such a relief to finally have a diagnosis. At one point I was beginning to think that maybe things really were all in my head, maybe I was just imagining all these issues. But, it is not all in my head. It is in my defective collagen.

You may be wondering where the “zebra” part of my name comes from. I’m using it because people with EDS are considered “medical zebras”.  In medical school, medical professionals are taught the phrase “if you hear hoof beats, think horses, not zebras”. This is so that they don’t go diagnosing everyone with rare illnesses, a person is more likely to have something common, not something rare. But many doctors forget that people do get rare illnesses. They forget that zebras exist.

Ehlers-Danlos Syndrome in general is considered to be a rare condition. Some researchers are starting to think that maybe its not so rare, but actually rarely diagnosed due to lack of awareness and understanding.

I am a medical zebra, I proudly wear my stripes, and I will never stop spreading awareness so that people will not forget that we exist.


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