When I was diagnosed with my genetic disease, Ehlers Danlos Syndrome (EDS), I found myself thinking about pie. It was a graham cracker crust with a layer of coconut cream, a layer of key lime custard, with a lime whipped cream, and topped with toasted coconut. For me, like Keri Russell in the movie Waitress, I find emotional solace in cooking. The year I learned how to bake, I made 27 pies. Cooking is like the imaginary realms of childhood, where nothing can go wrong. In the refuge of the kitchen my parents weren’t divorced, no one ever died, the world was at peace, and I was healthy. When I feel particularly unnerved I imagine myself in my kitchen and I invent new dishes to distract myself. Sitting in the doctor’s office, however, developing “diagnosis pie” was not enough to distract me from the reality of my health.
Getting a name assigned to my condition was not a new or surprising development. I have been uncomfortable in my body since I can remember. Sometimes it feels like my body was poorly assembled from a picture-to-perfection IKEA manual. It is partly manufacturer and partly user error that one leg is shorter than the other, one hip dislocation, two joints with bursitis, two torn muscles, and a variety of strained muscles. A good day on the pain scale is usually a two, but I have become accustomed to aching, burning, throbbing, tearing, stabbing, and crippling as daily sensations over the years. My condition is referred to as an invisible disability, because from the outside I look like a normal 20-year-old woman. Therefore getting people, and more importantly doctors, to take my pain seriously has always been a twisted road that consumed large portions of my adolescence.
Whether it was my asthma, or minor injury, things in my body never quite worked as they should. Like most young girls, I spent years hating my body. Not because it bulged or sagged in certain places, but because it was constantly attacking me. My first major injury was the summer before my freshman year of high school when I tore my TFCC (Triangular Fibrocartilage Complex). No one knew where the injury came from, but after an arthroscopic surgery the doctor explained that the damage to my wrist was irreparable and I would deal with mild pain the rest of my life.
My wrist was just the beginning, and I quickly became what the nurses call a “frequent flyer.” By the end of the year I had seven muscular injuries that seemed to arise from nowhere. Extreme hyper flexibility (double jointedness) was my main symptom. By the end of high school, I had nine specialists and the most excused absences anyone in my school could remember. I was a medical irregularity. My body hurt daily. My joints were like quicksand, the more I fought back the worse they became. Unfortunately, like with most muscular conditions, the best treatment was waiting. The pain radiated and each stiff, struggled, motion felt like a war.
I started combing the internet for pain blogs. I was 15, undiagnosed and looking for some sort of confirmation that this wasn’t all in my head. I never found that. I found sites of people suffering from martyr syndrome, who were convinced that their experiences were unique and unparalleled. There were dozens of people who had let their condition become an all-consuming aspect of their identity. Instead of solace, these sites made me feel further alienated, as if there was no normalcy in pain. I knew my experiences weren’t extraordinary, but I still wanted them validated. I found little ways to assure myself that I was fine. When I was a little girl, my grandmother told me that if you lace your fingers over your solar plexus it will give you that “warm soup feeling.” I found these little ways albeit cooking or coping to convince myself that I was fine.
By the time I was 18, my body was worn out. It cracked and creaked like an old house, but new coats of paint, could do nothing for my failing foundation. Then the TFCC pain returned with renewed intensity. I stayed quiet, because college was my chance to redefine myself and avoid the pity. I wanted to be strong, but the pain in my wrist was undeniable. I could not think in class. I could not read. As I closed my eyes and breathed through the pain, tears involuntarily trickled down my face. I caved and saw an orthopedic surgeon. He explained that my TFCC was in tatters, the tear had grown and I had a secondary tear in my ECU.
My bones had set enough by my sophomore year of college that I could have I full blown reconstructive wrist surgery. Bone drilling and all. I spent four months in a munster cast, which went up to my armpit and everyone felt entitled to ask invading questions about my health. Their curiosity came from concern, but to me it all felt like pity. They kept asking what made me injury prone. I wanted to scream “I don’t fucking know and I don’t want to find out. Can we please move on?” I desperately did not want to become the poster child for the persistently unwell.
I spent nearly seven years in chronic, constant pain with no identified cause and a pocketful of symptoms. Before this year I was able to reassure myself that I was generally healthy, safe, and an extremely privileged woman. I was not dying. I was not paralyzed. I was just chronic. I would get better. I told myself this. Then I admitted I was fighting a war against my body and my worst enemy was myself. I have had four surgeries, three casts, one boot, and countless braces. I have spent at least three months a year in physical therapy since I was twelve. I can recite my parents, my brother, my grandparents, and my own medical history flawlessly. And as hard as I try, I cannot remember the last time something did not hurt. My condition was stagnate and I didn’t feel motivated to pursue a diagnosis. I was thankful for the hundred tests and scans that came back negative. Without a title, my symptoms were an inconvenience to my family and friends. I was laughably medically unlucky, but that came to an end this fall.
In September 2014, my legs started falling asleep. I would be standing in the kitchen or sitting at my desk and slowly from the hip down I would lose all sensation. I thought it was odd, but not particularly concerning, of all the things I have tolerated as a medical anomaly this seemed minor. My roommate however disagreed and insisted that I went to a doctor. In the following weeks the dramatic decline of my health was sudden and unpredictable. The chest pain was next; it was infrequent, but sharp and disturbing. Sitting in bed, working at my computer, I would be disrupted by massive contractions. Next, the fatigue. I started to feel tired, even when well-rested. My eyes became heavy in class and weekly I fell asleep in the front row of lecture. My tiredness was all consuming. I could not safely drive and my days were measured in the times between each nap. My doctor decided it was time to see a neurologist and I realized it was time to tell my parents.
In the following weeks my skin became thin, translucent, and easily impressionable. I was shocked one morning when I got out of the shower and I could see a map of dark blue veins snaking across my chest and up my thighs. A hair tie on my wrist would leave a red indent in my skin for hours. The final development was the pain in my back. Throughout all of my years of injuries my shoulders have always managed to stay safe. Then in November a deep and consuming pain developed. The muscles constantly felt like they were going to collapse and for the first time in a years my body terrified me.
In the span of three months my understanding of my health unraveled, but I didn’t want to let anyone help me. In sickness I refused to be weak. I went to physical therapists, cardiologists, rheumatologists, neurologists, and orthopedists. Everyone was stumped by my amalgamation of symptoms, but felt simultaneously confident that my situation did not fall within their specialty. It was late in November that someone mentioned EDS. Reading through the symptoms on Web MD I felt like I was reading through my own medical history, but I was skeptical. I had never heard of the condition, a rare genetic disease of the collagen, and doubted that I could have it. Skimming online I learned, however there is no cure and no treatment.
I made some calls and got an appointment with a genetic specialist for after final exams. Monday December 15th, my appointment began with an hour-long review of my medical history with a genealogical specialist. Then my mother, my father, my step father and I crowded into a small examination room, where we met with the doctor. He examined me in the echoing silence of anticipation. Then he conferred with the first specialist. He felt absolutely confident that I have Ehlers Danlos Syndrome. I sat in a whirlwind of questions. My mother the empathizer wanted to know about quality of life. My father the professor had an onslaught of questions about his methods of diagnosis and their accuracy. My stepfather the scientist wanted to know about long term risks. I quietly listened and tried to focus on the pie. Finally the doctor turned to me and asked if I had any questions. I’ve never thought of myself as the maternal type, but I heard myself ask if I could still have kids. “Well that’s complicated,” he said. If I got pregnant the natural way there is a high likelihood I would transmit the disease to my children, and I could never subject someone else to this.
We walked out of the appointment and stood outside the hospital in a prolonged silence. Finally someone asked if I was alright. “I’m fine.” I had to be, I was going to have this the rest of my life and fine felt like the only option. Two weeks later, however, I went to another specialist for a second opinion. He told me with as much certainty as the first that there is no way I have EDS. He entered the waiting room with a team a team of doctors, like I was a case on display, instead of a person in pain. He talked over me to my parents and when he did address me it was clear he did not take me seriously. My disability was invisible again.
In that moment the walls fell down and I no longer had the energy to be okay. I just wanted someone to tell me what was going on in my body. I wanted to stop subjecting those I love to the uncertainty of my health. I sat in the doctors office and sobbed. Then I walked out to the waiting room, where my best friend sat and let myself break. For the first time I let myself be crushed by my condition. We went back to the car and in the safety of the confined space I got furious. Furious at the doctors, the medical system, the avoidance and disrespect. I was mad at my body and myself, but mostly I wanted to let it hurt. In my diagnosis I realized that this condition of mine, regardless of its title, is permanent. I looked down the barrel of my future and was faced with the fact that I may never have a day where I am not in pain.
Living with an invisible chronic physical illness is truly confounding. I have learned to normalize and compartmentalize my pain, so that no one sees me struggle. And in some ways that’s the beauty of my invisible disability. I can hide my differences and look “fine.” But then I need to keep reminding myself I exist outside of my pain. I find myself waiting for someone to shake me and shout “you are more than this disease.” Like most people I want someone to say I am beautiful and lovable and kind and important, but more than that I am not and I will never be, just my pain. In my diagnosis I have gained the privilege of legitimacy. I am finally learning to let people look at my pain and say this is where is hurts, please accept me for more.