I can be one hell of a skeptic, especially when it comes to my health. Over the years, I’ve dealt with plenty of doctors trying to fit me into diagnostic criteria for different illnesses, just to have something to treat. To the point of trying experimental treatments of these misdiagnoses. In the long run, no matter what treatment I tried or what specialists I saw, my body just couldn’t heal. I wasn’t getting better and everyone involved was getting frustrated. Last Summer, we discovered I had a structural problem with my digestive tract; a birth defect. At the age of twenty-one we discovered I had a birth defect. My mind could not comprehend that, I was so upset. How did this happen? I finally bit the bullet and reached out to a geneticist, as a last-ditch effort. Nearly a year later, I got my full genetic testing results back in the mail. That being said, I received a proper diagnosis of Ehler’s Danlos Syndrome (EDS) several months beforehand.
I left work for “lunch” — which I usually don’t do and it’s always a hilarious joke, for the most past my coworkers know I can’t eat. I flew to the post office, sifted through my PO box and found exactly what I was hoping not to see: the little yellow slip notifying me there was something delivered that was too large for my box. I brought it up to the counter and handed it over. Within a few minutes, the grumpy postal worker plopped it down on the counter; Confidential Documents Enclosed. My heart sank. In that moment, I just knew — an envelope that size did not contain normal results. After the workday ended, I drove my car over to the beach, I sat there for well over an hour, the sun had begun to set. Reading over and over; trying to understand; analyzing and studying what was typed out in the tiniest font over many pages. As I began on my commute home, tears flooded my eyes. I wanted to be grateful; I yearned for this to bring relief, but instead I was flooded with anger. How did this happen? Why has it taken over this long to find? What would my life have been like if we had known? Would I have gotten this sick? Was any of this avoidable?
I’m past that anger, for now. I still have countless unanswered questions and fears, some more testing to undergo. I’m a bit less skeptical, the more and more I learn about the types of EDS found in my genes, the more it makes sense. The geneticist I’m working with has provided me with some peace of mind, “This is the last piece to your puzzle,” she told me, “and you are quite the puzzle”. And here it is, to blame for my body’s inability to get well all these years. The reason I developed an autoimmune condition; the reason I couldn’t fight off the Lyme; the reason I choke every time I swallow; the reason I can’t digest my food; the reason behind nearly constant pain; and most importantly, the reason behind my passion for advocacy.