What Is hEDS?

So what is hEDS exactly? Hypermobile Ehlers-Danlos Syndrome is a subtype of the Ehlers-Danlos Syndromes which are a collection of inheritable genetic connective tissue disorders. There are thirteen subtypes with the hypermobile subtype being the most common. hEDS has several main characteristics but by far the most well known is the generalized joint hypermobility (a fancy way of saying we’re extra bendy). There are also additional joint issues that come along with hEDS such as subluxations and dislocations, as well as skin issues like unusual scarring, hyperextensibility (you can pull our skin out extra far; it’s cool, honest!), fragility, etc. Accurate estimates are difficult to measure, but currently the predications are that EDS occurs in about every 1 in 5,000 people with about 80-90% of those cases being hEDS. At present doctors aren’t sure what causes hEDS as there has been no single gene mutation identified, although it is more dominant in females, the theory being hormones have an influence on joint hypermobility (which means hEDS is worse during a woman’s menstrual cycle and pregnancy).

This disease will affect a person in varying ways throughout their life, and there are many other co-morbid diseases associated with hEDS that a person is likely to be diagnosed with in additional to hEDS (see additional posts). Oftentimes a child who is diagnosed with hEDS will have pain with repetitive tasks (such as handwriting during school) or lower limb pain (like “growing” pains) as well as subluxations of their joints, especially knees (pick me, pick me!) and shoulders. They are also more likely to be uncoordinated as they have poor proprioception due to their joint laxity (anyone a super clumsy athlete?). As one ages you’re more likely to enter a “pain” phase and this is where many misdiagnoses happen such as fibromyalgia and chronic fatigue syndrome. This is also where some of the other co-morbid diseases (such as Postural Orthostatic Tachycardia Syndrome and Mast Cell Activation Syndrome) will begin to raise their heads and multiple body systems begin to get involved such as GI issues, headaches, etc. Oftentimes the disease seems to lay almost “dormant” until it is triggered by an event at which point the person will appear to suddenly go from healthy to bedridden almost overnight. The trigger can be anything from a viral/bacterial infection, stress, injury, or even childbirth. Thus begins a roller coaster ride of management as one begins to relearn their body. Sounds familiar…

Once this “trigger” happens us zebras tend to begin our search for answers as our bodies become foreign to us. We have good days and bad days. We have days where we are bedridden and days where we feel we’re almost back to normal. We have to revamp our diet as things we used to eat we can no longer tolerate. We begin to hunt down things that trigger us because all of sudden things like a glass of red wine makes us break out in hives, and going from a hot to cold environment makes our skin itch, and eating a bowl of ice cream means sitting on the toilet with IBS like symptoms, and having a bowl of pasta means a foggy brain three days later, and that approaching storm makes our whole body ache as if we have the worst flu known to man. Our entire lives become one big mystery after another as we search for causes and effects. We constantly experience a cornucopia of symptoms and we begin to think that we’ve gone a little crazy. We go to doctor after doctor explaining our symptoms searching for answers and if we’re lucky we get a sympathetic ear, if we’re not we get dismissed as a psychosomatic hypochondriac. This is our lives.

As we slowly start to relearn our bodies and take back control many of us stumble onto the answer ourselves via the internet, social media, podcasts, etc. There is a wealth of information at our fingertips now compared to even a decade ago, and for those of us who are searching for answers, it has provided a route to education and an avenue of hope. The more that we are able to spread the word about these rarer diseases the quicker that people will be recognized having them and be able to receive treatment to improve their quality of life. At present the medical practices that the Western world follow make it extremely difficult to diagnose a complicated multi-systemic illness such as hEDS. Appointments are at best thirty minutes long which is barely long enough to take a history when discussing a zebra patient (if the medical students are even taught to take a thorough history). Students are also encouraged to specialize in medical school and develop a myopic view rather than look at the whole body holistically; again, a huge detriment to a zebra who’s disease(s) is crossing bodily systems. With the deck stacked against us, it’s no wonder that it takes an average of a decade or more for most zebras to get diagnosed.

It is many zebras fervent hope that with further research and education that someday hEDS will be more than just a passing footnote in med school. That many more medical professionals will become aware of it and its multi-systemic presentation so that years of waiting will turn into only months. In the meantime we will continue to do all we can to educate the world and spread the word about our unique stripes.