“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.