- Posted February 5, 2014 by
This iReport is part of an assignment:
Living with a rare disease?
Elastogirl aka Ehlers-Danlos Syndrome
About a year ago I came across the form my mother filled out to admit me to kindergarten. They had asked for a list of medical issues and my mom dutifully filled out every idiosyncrasy - easy bruising, clumsy, exercise intolerance. The admissions committee probably dismissed her as a paranoid first time mom. It would be another 16 years of dismissals before I had a name for the symptoms that were so clearly outlined a decade and a half before.
I was 21 when I was diagnosed with Ehlers-Danlos Syndrome, a collagen disorder that caused the easy bruising, the clumsiness (now known as poor proprioception: aka I don’t know where my body is in space), and the exercise intolerance (it’s hard to run around when your joints aren’t stable, coupled with extreme fatigue). The diagnosis, in my last year of college, finally gave me a name for what had made me different from my peers. Two years later, I was diagnosed with POTS (Postural Orthostatic Tachycardia Syndrome), which is often concomitant with Ehlers-Danlos. Essentially, when I stand up, the blood pools in my feet. My brain and heart don’t appreciate the lack of blood-flow as this registers as shock from blood loss (even though the blood is still in my body, just in the wrong place) and I get a rapid heartbeat and a drop in blood pressure, which led to seizures for me.
Ehlers Danlos Syndrome affects one in every 5,000 people, and is thought to be under diagnosed. These patients have abnormalities in their collagen. Collagen makes up almost everything in the body, from the skin, to bones, to holding up the internal organs. Symptoms of the disorder often include joint dislocations and fractures along with extreme hypermobility . There are six main types of the disorder, but I have the hypermobility type, which is the most common.
I had learned a long time ago that I would never be a sports superstar. I didn’t have the stamina to compete with my classmates and my myriad of injuries made consistent practice all but impossible. I figured, since I can’t be good at sports, I can be good at school. I focused on my coursework, trying to get into the best college that I could. I recently finished my PhD through the support of my family, friends and my medical team. I'm a postdoctoral researcher at MIT now, studying bone and cartilage regeneration and repair. I may not be able to fix myself, but I hope to further the skeletal biology field so that others don't have to suffer needlessly.
The one thing that allowed me to be where I am now was the idea that I was not disabled, but differently abled. I chose to define Ehlers-Danlos, not have it define me. Having spent so many years learning about my body and its eccentricities has made me incredibly adaptable. I know exactly how far I can push myself and how much I will suffer if I push too hard. I know my body better than any doctor and I have to take care of it so I can function well into the future, and hopefully do some good for those who are suffering in the endless cycles of wrong-diagnoses. I wish I had been diagnosed at age six, with my first fracture (of many), but since that wasn’t meant to be, I can at least tell the world about Ehlers-Danlos and make it a household name, not just for patients but for doctors. With research and education we can make lives better for those affected.