When I get into talking about chronic illness, my least favorite question is, “so what do you have?” I used to respond with “Well, what don’t I have?” and a giggle. I could tell you I have Ehler’s Danlos Syndrome, complicated by a paralyzed digestive tract full of dead nerves; Chronic Lyme Disease complicated by autoimmune and genetic conditions. Throw in a PLOD1 gene mutation,
some major sensory issues, loads of anxiety and that doesn’t even begin to scratch the surface.
I’m still quite the medical mystery. My history is complicated at best; I’ll attempt to break it down a bit, but after too many misdiagnoses and specialists, the reality is we still don’t fully understand what’s going on in my body. As I began to chase down answers, seeing specialist after specialist, they threw labels on symptoms yet didn’t bother looking for the root cause or a solution. I’ve only recently begun to weed out those catch-all diagnoses to find quality answers and possible solutions.
My early childhood was rather uneventful, in the best sense of that word. I was a super quirky kid, I’ve always just beat to my own drum. I was excited, curious, rambunctious; I never stopped. I was just a typically healthy kid, until I wasn’t; that’s exactly how it happened. Seemingly overnight I went from this bubbly, quirky, inquisitive kid to a whole new life of mystery and fear, without a chance to look back.
The first symptoms that showed up weren’t all that concerning, and seemingly unrelated. I started struggling with my ability to sleep and self-regulate, then stomach issues joined the party. I became an anxious, sensory-seeking disaster and avoidant of most foods. Soon after the physical symptoms started to pop up, I began to struggle with school and social relationships, so much so that my teachers and parents proposed a developmental evaluation. I remember it so vividly. I completed the tasks asked of me, but I fell out of my chair six times and destroyed several pencil erasers by chewing on them. That was my normal, yet nothing came of the testing. I’m not sure what they were expecting, but as someone who now works in the special education field, if you were to tell me “I have a quirky kid who eats four foods, can’t self-regulate, is a sensory disaster, socially disconnected, doesn’t sleep, doesn’t have body awareness, but excels at academics in the right environments,” I’m not going to lie, my immediate thought would be autism but not in this case.
By the age of fourteen, something in my brain just turned off. I lost a few years’ worth of memory starting around this time, so there’s some events I can’t quite recount though my memories seem to be returning slowly — like flashbacks. I can remember being completely disconnected, living in a constant state of fear. With all this going on, I began high school…which quickly came to an end. A new symptom had appeared: excruciating stomach pain. On top of all of this, I dealt with relentless, brutal bullying on a daily basis at a school of 2,000+ students. I was sent home from school every single day before I could even make it to my second class. They told me it was anxiety, I just knew it wasn’t — but don’t get me started on the gut-brain connection (I’ll save that for another post). I begged my parents to bring me to the doctor, so my pediatrician sent in a gastroenterology (GI) referral. Lo and behold, the GI sent me to a psychiatrist. “It’s all in your head”
Over the next couple of years I began to believe I was crazy. I bounced from various psych professionals and therapists hoping to find some answers and get back to the life I was supposed to be living as a young teen. I was put on every anti-psychotic, anti-anxiety, anti-depressant drug on the market, only making me sicker and more dissociated. Still, I wasn’t getting better.
My journey to finding an answer began in such an unexpected way. I met a doctor at a local seminar (who did not know of my history), he listened to my concerns and responded with,
“I can see in your eyes that you are not crazy, but you are sick and I can help you; I want to help you”
The answers came the day before I graduated from high-school (yes — I may have left school, but I never stopped). This was the prime of my memory loss; I can’t even remember my graduation, but I what I do remember is the phone ringing the Sunday evening before and the doctor on the other end…because when a doctor calls you on a Sunday night, it’s usually not good news. He asked me to pull up a PDF he had sent via email, I had no idea what I was looking at or what any of this meant. He referred me to a local physician who saw me within a week and we got started on understanding and treating what was going on in my brain.
Initially, I was diagnosed with PANDAS, which has been recanted and now we know it is actually a form of Autoimmune Encephalitis. What? Basically, my immune system was attacking my brain stem and spinal column. More about this, here.
After beginning treatment for this autoimmune condition, that was causing damage to my brain, I still wasn’t getting better. My doc referred me to yet another specialist. This time we found out my body was full of undetected Lyme disease and co-infections (co’s; which are other tick-bourne illnesses). The Lyme and co’s were triggering my immune system to produce antibodies, those antibodies were attacking my brain instead of killing the triggers due to the autoimmune condition I had been diagnosed with. This caused a multitude of things to happen. First, nothing was working to kill the Lyme and co’s. They reproduced and invaded my body so rapidly that by the time we caught it every system of my body was affected. My immune system saw Lyme and co’s as a threat (it was doing something right!), naturally producing more antibodies, which which continued to attack the brain instead of the parasites. Those brain attacks never stopped because this trigger (Lyme and co’s) was still living within my body.
I heavily treated the Lyme, the co-infections, and the autoimmune misfiring for several years following these diagnoses but again, I wasn’t getting better. In fact, I was getting worse. Around the age of nineteen/twenty, I encountered my next big challenge: I lost my ability to eat and digest food. I had central lines and feeding tubes put in, but still no explanations. I went through intrusive testing to find that my GI tract was structurally incorrect, as if it were a jigsaw puzzle with all the pieces in the wrong places. To add a whole new level of confusion, we learned this was congenital, meaning I was born with it. The question now was, why did this happen? How have I gone twenty years without knowing I had a birth defect?
I finally went to see a geneticist who diagnosed me with two types of Ehler’s-Danlos Syndrome (hEDS & kEDS). “This is the last piece to your puzzle,” she told me (if only!). It was the reason I wasn’t getting better; the reason I developed an autoimmune condition; the reason my blood-brain-barrier developed a hole, letting antibodies in; the reason I couldn’t fight off the Lyme; the reason I choke every time I swallow; the reason behind nearly constant pain; but most importantly, the reason behind my passion for advocacy.