What is Ehlers-Danlos Syndrome (EDS)

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My beautiful blonde friend on the left is the last of her kind in the world. Blonde zebras were the rarest of rare animals to begin with and like so many animals they have fallen victim to global warming, so this sad and gorgeous captive is the last known to exist. I think of her often and whether she suspects how tragically special she is; feels the weight of it.

Her story came across my Twitter feed almost magically the week I began to really study Ehlers-Danlos Syndrome as if to reassure me that I was no where close to the most tragic of the animals that day or any other. Get over myself. So I made her my profile picture to remind me that one life is all any of us ever have. No matter how tragically rare it is, no matter how alone we feel, despite all the agony, there is still beauty in it and somehow that beauty keeps propelling us on.

Zebras have a strong connection to all Primary Immunodeficiency diseases, which is well explained by the folks at the Immune Deficiency Foundation here. More recently, zebras have been adopted as the semi-official mascot of Ehlers-Danlos Syndrome (EDS). EDS is one of many rare PI diseases the zebra was initially used to encourage doctors to sometimes think zebras instead of horses when “hearing the hoof beats” of autoimmune disease. Many people with EDS collect zebra items and use them as tools for awareness and more companies are coming out with zebra-striped mobility devices just for us.

What is EDS?

In short, EDS is a rare,genetic disorder that causes the immune system to disrupt the body’s ability to manufacture healthy collagen. There are several different types of EDS, each with different symptoms and prognoses, but all include this universal factor. Though most people think of skin and beauty when they hear collagen, collagen is used to make up almost every kind of tissue in the body, including but not limited to tendons, ligaments, fascia and other connective tissue, bone marrow, organ tissue, vascular tissue such as veins, arteries and capillaries, hair and nail tissue, and more. Collagen is literally the glue that holds the body together and when it starts to break down it becomes stretchy and unreliable, causing very unpredictable things begin to happen to every system in the body:

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Diagnosis of EDS is complex and difficult. Finding a doctor who is fully trained and equipped to diagnose it is even harder. Of all the types of EDS, only one cannot be confirmed via genetic testing, yet many geneticists will only work with adolescent age sufferers and finding someone who can diagnose based on symptoms alone takes a great deal of time and patience. Organizations like Ehlers-Danlos Support UK and The Ehlers-Danlos Society can help. Currently, the most popular diagnostic criteria, especially in the UK seems to be the Beighton Score and it’s accompanying criteria:

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WARNING: It’s important to understand that as we age, our flexibility changes, so it’s possible that you may have met the flexibility requirements at one time, but no longer do. Be sure to discuss these concerns with your doctor, as multiple dislocations and injuries can seriously curtail hypermobility. Also, please note that while you may still have it, testing your hypermobility CAN BE DANGEROUS TO A PERSON WITH EDS. While hyper-extension never hurt me when I was young, every time I hyper-extend something now, it now takes anywhere from several days to weeks for a joint to heal now and that damage is permanent!! If only I had known what I was doing to my body with all the gymnastics, yoga and crazy dance moves of my youth 😦

This diagnostic criteria, along with all the reading I have done is the reason I don’t feel I really need to wait for a professional to confirm my suspicions. In addition to the staggering number of boxes I can check off on this list for myself, my family history, which I am intimately familiar with back to my maternal great grandmother, neighs zebra. I’m surprised we’re not hoofed. With a lot of diligence and a little luck, I have actually managed to track down both a doctor who diagnosis and treats as well as a geneticist who works with adults in not too far off Lexington, KY out of the University of Kentucky, so hopefully I will have confirmation sometime around the new year.

If you suspect you too have EDS, I strongly encourage you to do your research, find a doctor and GET DIAGNOSED. There is no cure. There aren’t even effective treatments. But the reality I’m finding all too quickly with this disease just as ME/CFS is that it’s probably not nearly so rare as it is massively under-diagnosed and misdiagnosed. EDS patients are going to have a real fight on their hands for recognition and funding to get sufficiently available, adequate treatment.

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