eds_awareness

“What happened to you?” is a question I hear a lot, because when people see the crutch I use to walk every day, they think I’ve just had a recent injury. My reply of, “I have Ehlers-Danlos Syndrome,” is usually met with very confused looks.

“It’s a genetic disorder that affects the collagen in my body.” More confused looks. “I have hypermobile joints (I do my finger braiding trick – and regret it later, because our stupid human tricks can be pretty painful), meaning I dislocate and sublux easily. I also have osteoporosis.” “You’re too young for that!” they gasp. I nod. “I was diagnosed with osteopenia at 27, when I broke my femur and dislocated my knee, because of slipping on a wet floor, they told me it’s osteoporosis now. Also have osteoarthritis.”

I don’t get into the other parts of EDS (shortened version of Ehlers-Danlos Syndrome) that cause me so much pain on a daily basis, because by this point, the person is already feeling sorry for me, and regretting asking what’s wrong. And I hate pity. So I let them know, “I could be worse. I’m not in wheelchair full time yet, and it’s not cancer.”

What I don’t tell them, is that this disease can be very deadly. No one wants to hear that my lack of collagen could cause an aortic rupture and I could drop dead. I haven't presented with vascular symptoms yet, but I haven't been tested for them, either. No one wants to hear that I can’t have children because my lack of collagen could cause my uterus to rupture, and my hips would become so loose from the pregnancy hormones, I might never walk again. Or that there’d be a 50% chance that I could pass on this disease to any biological children, and I couldn’t live with myself, knowing that I’m the reason my child is in so much pain every day of their life. Or that I could end up resenting them.

 No one wants to hear how my body betrayed me and killed my dreams of being a singer, or ever having a vacation touring castles in Ireland, because I can't stand in large crowds, dance, or walk on uneven ground, or stairs without railings. I don't tell them how the chronic fatigue sometimes associated with EDS doesn't allow me to even cook dinner and do dishes in the same night, let alone actually work out at a gym, or go back to school.

But aside from all of that, what bothers me the most is how little the majority of doctors know about this disease. It’s currently classified as rare, but I have over 50 friends just in the Chicagoland area who have it. That’s rare? I know thousands and thousands more on facebook and twitter. That’s rare? I think it’s only classified as rare because so many doctors aren’t informed about what it is and how to diagnose it.

Some doctors will tell a person, “But you’re not tall with long limbs.” That’s not a symptom of Ehlers-Danlos at all. That’s a symptom of Marfans, a different disease, that can sometimes present alongside EDS, but still not that same disease. Marfans, Chiari Malformation, and POTS can all be common in people who have EDS.

Some doctors will say, “That’s too rare. You don’t have that,” without really knowing what the symptoms are, and that this person has classic signs of Vascular EDS. Or classic signs of Classic Type EDS with soft, buttery skin, that won’t hold stitches.

My whole life, doctors were stumped by what’s wrong with me. I was sent to Mayo Clinic for 2 weeks of testing. That’s where I learned I had osteopenia. If the doctors had been informed about EDS, they would’ve taken one look at my records and said, “Oh! Born with a dislocated hip? Chronically dislocating knees? Weak muscles? Slow healing? Osteopenia? Sounds like Arthrochalasia type of EDS to me! Do you bruise easily?” But instead, they put me through painful tests and came up with nothing, because they just didn’t know. Reading the symptoms of Arthrochalasia type is like reading my medical history.

So please, get yourselves informed. You probably know someone who has EDS and doesn’t even know it, like I didn’t know. Everyone's journey with EDS is different. Everyone's symptoms and complications are slightly different. But it is a painful, disabling, degenerative condition. There is no cure for Ehlers-Danlos. At this point, there’s just pain management, and surgeries to band aid our many things that go wrong. But the more we raise awareness, maybe someone will start working on a cure? More doctors being able to recognize the symptoms and taking them seriously would be a great start!

For more information about Ehlers-Danlos Syndrome, please visit The Ehlers-Danlos National Foundation http://www.ednf.org

I am not affiliated with EDNF, but they have the best informative website I've found so far.

~ Joy

I may be unlucky, but it could have been worse.  I did not live my entire life knowing I had Ehlers Danlos Syndrome (EDS), and for a good portion of my life, I did not live as if anything was wrong with me.  There were some symptoms that were easy to shrug off: like being a klutz, growing pains as a child, and later the typical aging aches and stiffness at 25.  There were symptoms that were actually fun to show off: like dislocating my shoulders or knee caps & jumping into the Chinese (sideways) splits.   There was only one life threatening event but it happened so long ago, when I was 23.  I unknowingly developed a spontaneous tear in my large colon which resulted in an infection.  It wasn’t discovered until I became dangerously septic.  After three surgeries, the mysterious tearing did not reoccur, but was replaced with ten years of GI issues and Crohn’s treatments. 

Oddly enough, I never let these issues interfere with my dreams or internal drive.  My compliance career was flourishing, I jumped out of airplanes, and I lived & loved a LOT.  Each medical concern was merely a hiccup in the greater plan for my future.  Fast forward to today and that future has vanished.  I hold onto these memories as if that person no longer exists.  It all started when I came to the realization I no longer controlled my joint dislocations… they began to control me, instead.

Googling “chronic dislocations” led me to discover my symptoms and medical history were related.  I made an appointment with a rheumatologist and, armed to the teeth with data on EDS, asked to be evaluated for the disorder.  The physician did not appear to believe me… thus began my disappointing love-hate relationship with physicians.  I quickly learned not all physicians are the same.  Some physicians listen; some don’t.  Some inaccurately think they know everything about EDS; some don’t care to learn anything about the disorder at all.  Some doctors even hit on your fiancé; some don’t even look the patient in the eye.

It often takes some time and doctor shuffling before an EDS patient finds a physician willing to listen and offer logical, realistic advice and treatment.  Cardiologists will always test for Marfans first, Rheumatologists are only willing to help if you have documented osteoarthritis, and Orthopaedic Surgeons believe surgery is the only option.   In my experience, joint surgery does not provide long term relief and have often left me worse off than before the procedure.  I’ve also tried every non-surgical treatment option. but did not obtain pain relief from these methods, as well.  For example, I found a chiropractor willing to do adjustments using an activator. Unfortunately, even a minimal adjustment causes my spine to become more lax.  After three manipulations I developed nerve impingements and twitching in my head and arms which has not resolved in years.  Many EDS patients find excellent results from chiropractors, so I can’t say my experiences are typical for all EDS patients.  It’s important to try everything to see what works best for the particular individual.

I’ve achieved the best pain results by modifying my lifestyle and taking pain medication.  When traveling by train to the city became too physically difficult, I downplayed my career skills and achievements just to get a job working at a desk very close to home.  This reduced the physical exertion needed to get to and from work every day.  It also allows me to go to bed for a half hour during lunch so I have more energy for the second half of the workday.  I’ve learned to pace myself in all aspects of my home life, such as taking sit down breaks while doing dishes, and having my fiancé do all the shopping for the home.  I’ve stopped going out with friends except for once or twice a year, not only because it can be physically draining, but also so they don’t have to listen to me complaining about my pain so often.  I typically spend my time in bed surrounded by pillows, braces, and ice packs.

I have tried various forms of medication, including spinal injections.  I’ve found the best relief for me is an oral drug cocktail; short term & long term pain, neuropathic and anti-depression medications.  This cocktail allows me to get out of bed every day and do the best job I can at work.  This is important to me because my job became the only part of my life I still had control over.  It’s the only place where I can get so wrapped up in a project I forget to feel my misery.  It’s the only place I feel I suit a purpose.  It’s the only place where the person I used to be pops up every so often.

In reality, EDS is not physically affecting my brain, but it sure has messed with it a lot.  I’ve become a person who watches life go by instead of leading it to something new.  I’ve had to readjust so many priorities that I’m no longer going in the direction I initially planned for myself.  There are days when I don’t even understand how my fiancé can still love me because I’m not the same girl he fell in love with so many years ago.  What choices can I offer him for our future when my body continues to go downhill and is bringing my emotional state of mind with it? 

The answer is quite difficult and hopefully will become the motto for the new person I’ve become:  don’t stop.  Don’t stop moving, don’t stop trying, don’t stop learning, don’t stop dreaming, don’t stop laughing, and never ever stop loving yourself and the people around you.  Do not allow EDS to control the ability to like myself or wallow in self-pity because it could be much worse.  Many other EDS patients are in wheelchairs or suffer major life-threatening issues.  I just hurt.  Many other EDS patients have had to hold back all their lives for fear of EDS.  I had no fear for many, many years.  Many EDS patients are unable to work.  I am lucky to have a job close to home I wholeheartedly enjoy. 

There will always be pain and doctor visits in my life.  There will always be peaks and valleys in my emotional state of mind.  There will always be difficult days/nights and difficult questions to answer about my future.  But I still have control over who I will be in the future.  I can choose to let EDS control my happiness, or I can make changes to adjust with it.  The choice of control is up to me.

It could have been worse, which is why I’m actually a very lucky girl.

Essay contributor:  Jeanne Potter, Skokie, IL