I have Hypermobile Ehlers-Danlos Syndrome

Last week, I reached a point in my health journey that I have been hoping for, praying for, and working towards for the better part of two years. Since May of 2016, I’ve been fighting to identify what systemic issue it is that has seemingly come out of nowhere and changed my life—and I can finally say that I can name it. Nine doctors later, I have received a primary diagnosis, and, as crazy as it sounds coming from someone with an incurable and life-changing genetic disease, I absolutely BEAMED when I finally got my answer after all this time!

I have Ehlers-Danlos Syndrome (EDS) Type III (hypermobility type), often referred to as hEDS. EDS is a family of tissue disorders resulting from specific gene mutations in the part of our genetic code that dictates connective tissue growth. It affects the production, structure, and processing of collagen and other similar proteins. Collagen is a crucial connective tissue, and unfortunately for people like me, is laced throughout our entire bodies. When something goes wrong in collagen production, our brains, hearts, stomachs, skin, joints, and more are all affected by these changes. Thanks to these widespread tissue differences, EDS can cause a variety of other symptoms and  syndromes bridging across just about every body system: such as Postural Orthostatic Tachycardia Syndrome (POTS), Mast Cell Activation Syndrome (MCAS), and many more. Most of the effects of EDS are invisible, but one outward sign of these connective tissue differences is that most of us are flexible and hypermobile, as shown below.

beighton

(Note: although many “normal” people can be “double-jointed” or hypermobile, their hypermobility usually does not bridge across many joints or cause systemic issues. The chart above is used to calculate the Beighton Score, which defines true hypermobility. A 5 out of 9  is the threshold for hypermobility; I’m a 7 out of 9.)

Hypermobility sounds somewhat benign, and even fun at times, but unfortunately can cause some unfortunate complications. The loose and stretchy joints of people with EDS are unfortunately also more prone to early onset of wear-and-tear conditions such as osteoarthritis. They tend to shift out of place as well, causing pain and stress (some patients must pop their joints back into place multiple times every day). Chronic fatigue is another common symptom resulting from joint hypermobility, as our muscles work much harder than the average person’s — they are literally holding our bodies together in the places where our joints lack the ability to do so.

Ehlers-Danlos Syndrome is a spectrum, and some subtypes are more likely to alter or shorten lives than others. I do have to push past pain and fatigue each day, but I still count myself incredibly lucky. Many people with hEDS, which I have, are completely wheelchair-bound or bed-bound. Some patients cannot even lift light weight without completely dislocating their joints. Other individuals suffer from a complication where the tissue of your brain literally falls through a hole in your skull into your spinal cord. There are also more dangerous forms of EDS, such as the vascular type (my doctor was considering this in my case at first) for which the average life expectancy is about 40. These individuals are are in danger of fatal aneurism bursts at any time.

While having an EDS is no picnic (in fact, it is very painful), I thank God every day that this disease has not affected me as severely as was possible. My body is able to withstand the stress of keeping a full-time job, and I do pretty well at staying out of the hospital most of the time. While my life is going to be more physically challenging than it would be if I was “normal,” my medical team has full confidence that I will be able to attain the best possible outcomes with my conditions. My cardiologist said I was “tenacious” (lol), and one of the foremost genetic experts in my disease told me that based on what he knew of my story, he didn’t envision my spirit being broken by this anytime soon.

However, the reality is that my condition has no cure.

I have spent a year and a half fighting to find out why I’ve been in pain. I am so relieved to have answers, to know that my body did not just suddenly turn on me–it’s doing the best it can with what it has been given. I’ll continue fighting, throughout my whole life, for anything that will make me feel a little better (I’ll try just about anything—for example, I had my first ever IV therapy session over the weekend!). I don’t give up easily, and I refuse to let a chance mistake in my genetic code ruin my life. I have too many things I want to do.

Thanks, as always, for keeping up with my story! I’ll keep telling it as long as you are willing to listen.

2 thoughts on “I have Hypermobile Ehlers-Danlos Syndrome

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  1. If you don’t mind me asking, how were you diagnosed with EDS? Doctors have suspected I have it, but have not been formally diagnosed. I do have Dysautonomia.

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    1. Hi! I saw a geneticist in my area (Texas) who specializes in EDS. He’s great! A lot of people see geneticists, but really any doctor can diagnose you with EDS if they are knowledgeable. I’d encourage you to research EDS-literate physicians in your area and ask one to evaluate you. Your Beighton score as well as your symptoms will yield a diagnosis or not. You can get a diagnosis based on a clinical evaluation or gene sequencing (I am pursuing this next as further proof for any new doctors I may see one day).

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