A Long Road to a Diagnosis: Ehlers-Danlos Syndrome

By Dawn Michelle Shepley

I started having symptoms that were easy for the doctors to miss during my first few years. Things like delays walking, lack of fine motor skills, more bruising, more accidents, and slightly delayed physical development, on top of severe allergies. I cried often learning to walk, and often would beg for an adult to carry me instead. As far back as I can remember I was told pain was normal or in my head and to keep going. I started having migraines from the hypermobility in my neck at 8 years old. At 12 I started spraining/straining my back. At 13 I tore my Achilles tendon the first of three times. At 15 I had my first full dislocation of my right shoulder. Of course this all was all because I was clumsy according to everyone. At 20 my back and pelvis pain due to pregnancy put me on bed rest for over half my pregnancy, and my second pregnancy at 21 was two-thirds on bed rest.

At 27 I was rarely out of bed anymore. I was sick almost all the time. I was having injury after injury, 3 or 4 migraines a week, and near constant infections. I was always hurting, and thought maybe I had fibromyalgia as my mom had just been diagnosed with it herself. My doctors told me I was over reacting and dismissed my pain, again. I referred myself to a rheumatologist in my frustration. It took her two hours and her college textbooks to figure it out, but everything pointed to Ehlers Danlos Syndrome.

I had seen orthopedic surgeons dozens of times, physical therapists, and countless doctors in emergency rooms or offices for injuries, and none ever looked for a reason behind it all. None pointed out my hypermobility, or any other slight issue. I spent the better part of 19 years in regular pain with no answers due to a lack of education and awareness on this rare and disabling condition. I had been sent to more mental health therapists than orthopedic specialists. I did not even find out about the second part of my genetic condition, Marfans, until I seen Dr Nazli at the National Institute of Health’s Connective Tissue study. The fact the doctors all those years missed not one, but two conditions I was born with is appalling to me.

The worst part is most with EDS or Marfans are not diagnosed until their 20s and 30s, and they spend many years being convinced they are crazy when they are just in pain and in need of any answers. Now both of my girls and I face educating our doctors, friends, and family about our rare medical conditions rather than a qualified experts, because those are almost unheard of.