We’ve partnered with Inspire, a company that builds and manages online support communities for patients and caregivers, to launch a patient-focused series here on Scope. Once a month, patients affected by serious and often rare diseases will share their unique stories; the latest comes from patient advocate Heather Pierce.
Though I’ve been impacted by Ehlers-Danlos Syndrome (EDS) ever since I was a child, I didn’t first hear of this genetic connective tissue disorder until I was in my 30s. A serendipitous meeting with a geneticist changed my fate.
In my nervous introduction, I promised the new doctor that I was not a hypochondriac, but really did have a funky body. Her curiosity piqued, she smiled a little and responded, “Try me!” After hearing my symptoms, she had her own questions, which initially seemed random, then slowly started to connect the dots of my life. Who else in my family was like me? What were my pregnancies like? What injuries have I had, and did I have any problems healing? She felt my skin and started bending my joints. Then she started talking about Elhers-Danlos Syndrome.
For the first time I made perfect sense to a doctor, and it blew my mind!
Lack of awareness about EDS and stories of it taking years to get a correct diagnosis have led us patients to call ourselves “medical zebras.” For me, my hoof beats were not those of the horses that doctors are asked to think of first; doctors who saw me would mention multiple sclerosis, lupus, and irritable bowel syndrome before settling on fibromyalgia. While I spent years seeing specialists and undergoing tests, EDS was not considered by anyone. After my misdiagnosis of fibromyalgia, I spent the next 14 years damaging my body believing my pain was a false indication of an otherwise functioning, if neurotic, body. Well-intentioned doctors, seeing the horses they were supposed to look for, used my misdiagnosis as a dumping ground for my growing problems.
Eventually, the compiling effects of injuries, increasing dysautonomia, pain and joint weakness created a virtual checklist for a doctor educated in EDS.
EDS is a frustrating diagnosis – the disease exhibits itself differently in each person and has no cure or treatment outside of supportive interventions. Some people are mildly affected while others find themselves unable to function outside their beds. Genetic testing is not fully developed for some of the six types. And current imaging techniques don’t show the severity of the impacts on the body, especially the pain, which is both chronic and acute.
But looking for answers with my great team of current doctors, researching the ever-growing amount of information, and connecting with others with EDS keeps bringing home to me the fact that even medical zebras have different stripe patterns. One patient may be struggling with mobility issues from sudden dislocations of knees and hips, while another experiences more subtle impairment, as a joint slowly slides out with an activity such as walking. One person’s body may react to the hypermobility by locking in spasms, while another can do nothing effective to tighten up a loose joint. Someone may have severe gastric issues while another struggles with vision. The possible effects of faulty connective tissue are endless.
Last spring, I met with my new primary care doctor for the first time. Our discussion began with him reacting to my diagnosis by saying, “I see here you have EDS. How does it feature itself in you?” I wanted to hug him! It was so wonderful to feel like I had found someone who would treat me individually.
As EDS patients, our experiences are so different that all theories, symptoms and treatments won’t apply to all of us. But it’s important for people to understand that this doesn’t make EDS less legitimate or our experiences in it less valid. After all, zebras make hoof beats too!
Heather Pierce, of Baltimore, MD, is a married mother of two who co-leads an Ehlers-Danlos support group and is a volunteer for EDS awareness and education.