Genetics Results Part 1: Goodbye Ehlers-Danlos Syndrome

Since my last blog-post I have been unsure about how to write the next couple of blogs. I eventually decided to do a two-part-results reveal. This is partially because I believe that saying “goodbye” to EDS should be a post in and of itself. But I am also not quite ready to share the results of my genetic testing for several reasons (one being that I would like to remain anonymous still and right now I’m sure that my family is currently googling the abnormal gene and the condition it’s associated with). I will share one thing though; I do not have Ehlers Danlos Syndrome.

I started this blog as a method of detailing my journey with EDS and also to raise awareness. While this blog is only a little over a year long, I have known about and suspected EDS as my diagnosis for over 5 years. I have researched it, I have joined support groups for it, and I have advocated for it. Ehlers-Danlos Syndrome has always played such an integral character in the story behind my health.

For many years I just assumed that EDS was my answer and didn’t bother looking any farther or getting a formal diagnosis. There is no treatment, there is no cure, and I just didn’t see the point in going through the hoops. After a while though, as I started to get worse and to become more and more sick I began to realize how beneficial a diagnosis could be. Once I started developing the co-morbid illnesses that go along with EDS (such as POTS, Gastroparesis, MCAD,…etc.), I realized the importance of having a diagnosis… It makes doctors take you seriously. With a diagnosis of EDS doctors know what co-morbid diagnoses to consider. With an EDS diagnosis maybe I would have had a Tilt Table Test to check for my POTS right at the start of my search, instead of after countless other tests. Above all else though, a diagnosis would give me credence. I wouldn’t be the hysterical female who is clearly a hypochondriac. I would be the young patient with a genetic disease.

So I started down the road towards getting a diagnosis of EDS. After the first appointment with my geneticist, when I was told that I wasn’t going to walk out of that appointment with a diagnosis of Hypermobile Type EDS, I realized that the diagnostic process was going to take longer than I thought. Next I was confronted with the idea that instead of Hypermobile Type, I might actually be diagnosed with Classic Type or possibly even the scarier Vascular Type. Always though, there was the underlying belief that I would eventually be diagnosed with EDS. Sure my geneticist listed several other conditions as a differential diagnosis, but EDS was always the assumption.

The majority of my blog posts had tags of “Ehlers-Danlos Syndrome”, “EDS”, “EDS woes”,…etc.

But it’s not EDS.

I do not have Ehlers-Danlos Syndrome.

So this is my “Goodbye”. I have decided to keep the earlier blog posts the same. I will not remove or change the tags. Nor will I delete the ones where I have talked about having EDS. But from here forward I will start to talk about my new diagnosis. If any of my readers have a question concerning EDS, however, or just need someone to talk to who understands the disease and the process of coming to a diagnosis, please pleases feel free to comment and/or ask me anything.

Goodbye Ehlers-Danlos Syndrome.


4 thoughts on “Genetics Results Part 1: Goodbye Ehlers-Danlos Syndrome

  1. This is a great post especially for those of us who have been pointed in the EDS direction, but haven’t finished the diagnostic process. It sounds like it not being EDS isn’t the end of the world and that there are other answers to what we may be going through and that is so important to remember. I wish you well on your journey and I hope having the actually DX will help you immensely!

  2. I’m glad you liked it!! This is the reason why I would recommend genetic testing for everyone. Although I know that that’s not always feasible :-\ Thank you! It is good to have some sort of answers now 🙂

  3. Wow, I’m going through the same thing. I was told I likely had EDS by a few different medical professionals and thought I had HEDS, but then went to a geneticist to find out that while I was a 5 on the Beighton Scale, I did not fit HEDS and might have VEDS. Just had the cardiac ultrasound and thank God the results of that test showed my heart is ok, though I still need to have the EKG. I’m thankful if I don’t have EDS, but am still left with a myriad of chronic health and pain problems. Living with this as a diagnosis has made me become an advocate like you, which I will continue to be because there just isn’t enough being done for people living with EDS!

    • That’s how mine was (although I tested a 9 on the Beighton Scale). I really thought that I had CEDS and that the vascular CTDs was just being paranoid 😛 Whoops.

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