4/26/2021

Classical Ehlers-Danlos syndrome (cEDS) is a genetic connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include skin hyperextensibility, abnormal wound healing, and joint hypermobility. Genetic and Rare Diseases Information Center.

As a person growing up in chronic pain with a condition that will never go away or get better, I felt well prepared for the future. I had been diagnosed at four and knew most of the pitfalls I would encounter, but knowing and actually living through them are honestly not the same. I often wonder if this diagnosis turned me into a type-A planner or if I was born this way; Nurture verse Nature, I guess. I will never know the answer, but being someone who needs to have backup plans for backup plans did make my life more workable. What also kept my head well above water was the fact that I was on the manageable end of the spectrum. I never had to worry about exploding arteries, skin tears from sticking to a seat, or organ prolapse. The pitfalls were joints leaving secure sockets for no reason, skin tearing so deeply I could see the bone and severing nerves, and tendons ripping just because it’s a Tuesday. I also was warned that if I did want children, I could transmit this genetic disorder on and would be on bed rest for the entire pregnancy, for fear the little one would just slide out. I realized there was no way I would subject someone to this lifestyle, and if I did want a child, I would adopt.

Most of my childhood was spent trying to protect my shins and ankles. Those seemed to be the most vulnerable areas of my body. My first memory was walking on railroad ties; what child didn’t want to balance on a railroad tie pretending to walk the tight rope over a crowd at the circus or through alligator-infested waters. My ankle turned, and I was rushed to the hospital to have my shin sewed back together. Another time a bike fell over, and its kickstand cut a cavernous-sized opening in the side of my shine. Almost every other year, I was in the ER, having my favorite plastic surgeon sew my skin back together. There was no vanity in this at all. If you saw the scars, you may have decided he wasn’t very good at his job. But in my case, his mission was to keep my skin from tearing open again. A typical cut may have taken a hundred stitches, but because of my conditions, he would need to sew inside and out, coming up with a total of 500. That was the worst fall I had as a child, and since then, I have a deathly fear of walking on ice. Needless to say, ice skating and skiing were not in my wheelhouse.

This obviously made for an interesting childhood. I was given shin pads to wear to school. Not because I was on the soccer team, but because if I fell, hit something the wrong way, or just brushed past a dead corn stalk (true story), I would need stitches. I can’t say I was ever made fun of because of these issues, but I was defiantly self-conscious about them. What kid wants to walk around with shin pads that go all the way to your knees every day in school. I did not like to stand out, and it felt like that’s all I did. I was taken out of all gym classes and not allowed to participate in any contact sports. These decisions were actually not heartbreaking; I was never going to be Mary Lou Retton or Megan Rapinoe. Athleticism did not run in my bones, and my joints were thankful for that. This, in turn, may have been the cause or precursor to being overweight, which I was made fun of, but I assume everyone was picked on at some point in their lives. No one seems to escape pre-teenism without some form of emotional scaring. Looking back on it now, I often wonder how my pre-teen to teenage mind dealt with all of the information I had stored from this diagnosis and all the ways I tried to hid it.

Whenever I went somewhere out of the county for a period of time, I had to know where the hospitals were just in case I needed to visit. I had friends prepared with a list of things that needed to be done if I fell, and I was not above fighting with a nurse or doctor if they didn’t believe me. Becoming my own medical advocate was not easy at first, and I was lucky I only ran into a few less than accommodating doctors. Most people are not this fortunate. I was diagnosed at four years old, but the average age of diagnosis from the groups that I belong to tends to be the late 20’s early 30’s. I was given years to adjust and grow into cEDS, with groups giving me limited guidance on what to expect. Most people I have found are struggling for their doctors to even believe them.

There are now genetic tests that can help diagnose someone with certain forms of EDS. Just a few years ago, they found 13 subtypes. When I was growing up, there were only three options- Classical, Vascular, and Hyper-mobile. I was told I had Classical, which affects 1 in 20,000–40,000 people. I basically hit the genetic lottery, so much so that I am an anomaly; my EDS was not passed down from my parents, which most cases are. I was officially diagnosed through genetic testing on April 3, 2020, at age 43, which confirmed that I had cEDS: Classic Type. The diagnosis did not change my care, but it gave me proof that my condition existed.

Although at a young age, a doctor told my parents that I had cEDS, there was no physical proof besides my skin and joints. They took a skin sample from my leg to test and promptly lost it, asking my mother to return for another try. She refused. The process must have been so traumatic that I was not subjected to that again. I do remember the beginning part. I was sitting on a cold steel doctor’s table, and the tool they would use to extract my skin looked like the end of a pencil eraser. It would be placed on my skin and retract a ladybug-sized sample. I do not remember past sitting on the cold, sterile table. Most of my memories are like this. Maybe it was the numbing agent that didn’t work. I don’t know, and I won’t subject my mother to reliving that memory. A fun fact about EDS is that sometimes numbing agents and even pain killers just do not work or take a lot more to actually do the job. I was given fentanyl and morphine during a previous injury, which did nothing for my excruciating pain as I screamed for 3 hours in the ER.

I do still have flashes of being a child begging nurses in the ER to give me a minute to calm myself down before they stuck me hundreds of times with numbing agents in the area to sew. They, of course, refused and held me down, getting the papoose to wrap me up so I could not move. I remember screaming and crying until I was horse begging for them to get off me; they did not realize their body weight was hurting me more. I was double-jointed, and the extra weight bearing down on my chest and arms felt like I would break. The table was sold; there was nowhere for me to go but to be crushed between flesh and steel. I do not know if they knew the damage they were doing to such a fragile young mind. The feeling of grown adults laying on you, restricting you, not listening to your needs, or trusting that you needed a minute to just breathe is terrifying for a child. In fact, I was shocked by how much emotion I still have wrapped around those visions. Be quiet, stay still, stop moving were typically words they would repeat to me. I do not remember anyone other than my father telling me I would be OK. Not one of them tried to calm me; it just seemed they wanted to get their job done. As an adult, I wonder if it was because of their experiences with prior patients who beg for the same thing but continue to be unruly. I was never given a chance to calm down, so I could not prove I could do it.

After 44 turns around the sun, going on 45 in a few weeks, I have realized after this last accident that I have not dealt with as much of the trauma I thought I had. I also have learned that life is fragile, and so is my body. I always soldiered on, put on a good front, and tried to keep everyone around me calm, but this last accident has sent me spiraling and realizing I am not prepared enough to deal with this all calmly or even gracefully. Always controlling my emotions and trying to only feel the good parts is exhausting. I have been holding down fear with my entire body weight; my torso on its belly, arms on its chest, hands over its mouth. Telling it just to sit still, stop moving, calm down. I have realized this is precisely what was done to me as a child. I am only now starting to allow myself to sit with the fear and let it calm down, to let it breathe. I have ignored its pleas for too long in the past, and I will try to sit with it until it is ready to move on. I was not given that option as a child. That is the least I can do for myself as an adult.