Although it was hard to see any progress on medical solutions being made, things hadn't come to a complete standstill. I was referred to another neurologist who was head of the pain clinic at Mount Sinai. He ran another electrocardiography test on my legs and I purposefully triggered an increase in pain beforehand by using my legs to stand up and do the slump test. I was so desperate I figured maybe increasing my pain level would make a difference on the test. It didn't. The test was negative like the one I had a couple years before. Then the doctor came in to share the results. He apologized that since I didn't seem to have an active neurological problem, he wouldn't be able to help. As I sat there despairing and gathering my things to leave I habitually cracked joints throughout my body. As anyone who spends time with me knows this is a common occurrence that I can't seem to help. The doctor noticed this and started asking me questions about my joints and flexibility. I demonstrated that I was hyper-mobile, meaning very flexible, but we were out of time and he needed to see his next patients. He told me to look up Ehlers-Danlos Syndrome when I got home and see if it fits with my story. I of course couldn't wait that long, the tantalizing glimmer of hope too great, so I looked it up in the car.
As I googled what this strange sounding Ehlers-Danlos Syndrome (EDS) was several things caught my eye. First off was, "In some cases, the severity of the mutation can be life-threatening." I found that rather alarming, but who knows if there's a chance I even have this thing so there was no use worrying about it now. "There is no cure for EDS, and treatment is supportive, including close monitoring of the digestive, excretory and particularly the cardiovascular systems." If I had gulped at any point during that day, it would've been when I read that. I noted that this thing can be bad news but still hadn't reached any symptoms to compare with myself. "People with EDS are often misdiagnosed with hypochondriasis, depression, chronic fatigue syndrome, and other conditions because EDS is considered an invisible disability and there is generally poor knowledge about EDS among practitioners. Many sufferers of EDS have psychological difficulties as a result of frustration with the medical system and the socially inconvenient combination of appearing normal while being in severe pain." Now I was starting to see some connections. Throughout my years of illness I had been accused of having all 3 of those mental or exclusionary disorders. Suspicions of mine from that time have been confirmed many years later in that it was revealed to me that family and doctors had considered giving me placebos after the medical search turned up fruitless. The wikipedia post read: "Unstable hyper-flexible joints (it is possible to be very flexible or have "double joints" however, this is not the same as EDS) that are prone to sprain, dislocation, subluxation, hyperextension, myalgia (muscle pain) and arthralgia, (joint pain), which may be severe. Tearing of tendons or muscles and hernias are common."There we go. After reading that section I knew I had finally found my match. After over 4 years of searching, after years of being told the problem was in my head rather than my legs, I found my diagnosis in May of 2013. The description of symptoms didn't just accurately describe my current problems, they explained my entire medical history as well. I had bilateral hernias when I was nine which is not not altogether uncommon. The catch is that a year later I had a recurring hernia on my right side. To have multiple hernias of the same spot at that age is very very rare. They had to stitch up the muscle the adult way which leaves lots of scar tissue. Since I still hadn't gone through my growth spurt yet, the growing muscle laced with scar tissue caused a lot of pain throughout my childhood.
I wasn't sure how I was supposed to react. On the one hand, I received the validation I so desperately craved after years of searching. I wasn't crazy after all. I learned that there are other people out there going through what I was. In addition, there were plenty of online tips on how to manage symptoms. Yet the other side of the coin could not be ignored. The disease was plainly stated as being incurable. It was autosomal-dominant, meaning if I had children they would have a 50% of inheriting it. I knew then that I would not, could not have biological children; at least not until a cure is found. Yes, although it is not curable now, progress is being made. They're still tracking down many of the culprit genes but gene therapy is on the horizon. Using an agent such as a safe virus or nanobots, someone's genes will be able to be rewritten much in the same way a virus spreads throughout the body. The correct overwriting genes are inserted into a medium, and they "infect" and change all the defective genes. I'd wager this cure is a few decades off, but there's no way I'd chance putting my potential kids through what I go through. I love them too much. As it turns out, by the time I reached home I was far happier than when I left. I learned I was suffering through something very real, that there are others going through the same I can start reaching out to. Most importantly, those I respect the most would stop questioning my sanity. Regardless of who was right in the age long argument of if I was ever depressed or simply miserable, I was neither by the time I walked through my house's front door.
