Elastigirl: The Autistic Zebra

My name is Meredith and I am an 18 year old student. I have autism, dyspraxia, functional neurological disorder, chronic migraines, various still being diagnosed neurological symptoms, idiopathic intercranial hypertension, hypermobile Ehlers-Danlos syndrome (hEDS), postural orthostatic tachycardia syndrome (POTS), scoliosis, an essential tremor, a bowing of the mitral valve, and chronic pain syndrome. Most of my diagnoses can be traced back to hEDS.

Ehlers Danlos syndrome is a collection of genetic conditions that cause various malformations of collagen, which is a crucial structural protein that composes about one third of the proteins in the human body. While this condition is quite rare in the wider population, in the neurodivergent community, the condition is unusually common. Symptoms of the condition can include organ prolapse, fragile and unusually soft skin that may be unusually stretchy, soft lumps on the feet that bulge when bearing weight, symptoms of allergic reactions without apparent cause, atrophic scarring, joint hypermobility, widespread chronic pain and joint instability, the whites of your eyes having a blue tint, recurring or multiple abdominal hernias, feeling sick upon standing, stretch marks without cause, dental issues, various cardiac problems, unusually long fingers and arms that are disproportionately long compared to your body. Although the symptoms are not particularly subtle, securing a diagnosis often takes years and can be extremely traumatic, as it was for me, but is very important as if left unmanaged it can cause various complications which can be avoided or better managed with earlier detection. Diagnosis will also likely change your treatment to account for the various issues and risks that come with EDS.

I have lived with the symptoms of EDS my entire life, with joint pain and symptoms of POTS appearing when I was a toddler, although being so small I was unable to adequately express what I was experiencing. Having lived with a certain degree of chronic pain and fatigue my entire life, and being unable to remember a time when I did not live in agony, I assumed it was a completely normal part of the human experience and I was simply lazy and weak for being unable to push through like everyone else did. My twin sister and rest of my family displayed similar symptoms, with chronic joint issues and early arthritis occurring in most of our relations. Although I lived with chronic pain as a child, I enjoyed my flexibility. It allowed for a great many delightful stims when I was young. I used to entertain myself for hours clicking my jaw in and out of socket, twisting my fingers every which way, and pretzeling myself into various small spaces. At the time my party tricks were not painful, and they also gave me an easy way to socialize with my peers when I was younger, as we used to take turns showing off various tricks like flipping our eyelids inside out. When I got older, my childhood tricks that used to be a sensory heaven became a hell. Joints that were once bendy were now unstable and painful. Everything clicked and twisted and snapped all the time, my pain which used to be intolerable became unbearable. It hurt to walk, it hurt to breathe, it hurt to be touched. I was so tired I struggled to sit up for long periods of time. All of my joints were swollen and stiff, especially in the morning. I would collapse from fatigue, and my ankles and knees and hips would randomly pop and send me crashing to the floor. I would wake up in agony and seriously consider amputation, because nothing could possibly be worse than the bone pain and burning I was experiencing all the time. In desperation, I went to my primary care physician who drew over a dozen tubes of blood to test for every autoimmune and rheumatological condition they could think of, plus extras in case they found anything else in their research. The tests came back positive for nearly every lupus antibody, and lupus could explain the excruciating joint pain and fatigue, as well as the photo-sensitive hives I had begun experiencing. I was sent to a rheumatology clinic, which agreed that lupus was a reasonable condition to suspect but that it was inconsistent with my symptoms. My joints were stiff in the mornings, but that dissipated within about thirty minutes to an hour of getting up and beginning to move after getting everything to stop clicking so loudly. My rashes did not look like a malar rash or any other rash normally associated with lupus, and they lasted little more than a day. Lupus rashes often last for weeks and some leave deep scars. My joints were overly flexible, with a range of motion abnormal for even a healthy person, and no signs of inflammation besides minimal swelling like one would see with an old but still healing sprain. I was told I was an interesting enigma but that there was nothing clearly wrong with me and sent on my way with a trial of steroids, after another batch of bloodwork that found nothing.

After that rheumatology clinic failed to find anything useful, I flailed around for a bit, researching various obscure and rare autoimmune conditions which could explain my symptoms and finding very little. There are not many diagnoses other than a collagen disorder that can account for neurological abnormalities, difficulties with stopping bleeding, extreme skin fragility along with an unique texture best described as “a soy candle”, massive blood pooling and tachycardia, atrophic scarring, hives with no apparent cause other than sunlight that were not due to lupus, soft lumps on feet, hypermobility and instability of the small and large joints, various esophageal and vocal issues and stretch marks and injuries that quite literally appeared overnight. I knew what Ehlers Danlos syndrome was and that it caused frequent dislocations and symptoms relatively similar to mine. But my understanding of the condition was that it was unimaginably painful and that joint dislocations were gruesome affairs often accompanied by a great deal of screaming and required immediate emergency treatment. I did not know what subluxations were, that EDS patients are often able to self-manage most of their own dislocations and subluxations, or even that while dislocations can be excruciating for anyone, for EDS patients they are not usually medical emergencies like they would be for a healthy person. So, I ignored EDS, as my understanding of EDS did not align with my situation.

I was desperate for relief and my lab work kept insisting I had some kind of inflammation so I tried turmeric, prednisone (which tore my skin to shreds), various high dose NSAIDS and had vials and vials of blood drawn to try and find whatever autoimmune condition or conditions were making me so sick, all of which did absolutely nothing other than make me feel nauseous and sorry for myself. After that period of experimentation, I was forced to change primary care physicians due to my previous one only seeing pediatric patients. My new primary care physician felt a patient who had already seen an experienced rheumatologist who could not identify whatever condition was causing my pain would benefit from seeing the rheumatology clinic at a research hospital in a different state. That rheumatology clinic would probably recognize whatever chronic illness that was ruining my life and know how to treat it. The rheumatologists there were unable to diagnose me. While they were very knowledgeable about lupus and were willing to explain all the ways my situation did not align with the diagnosis, they could not identify I had EDS. When asked directly, as by this point I had found other EDS patients and was relating far more than I cared to with their experiences, they said that they did not see any signs of the condition other than hypermobility, and that they did not believe my condition was rheumatological in nature.

With the new rheumatology clinic failing to deliver answers, my primary care physician became more unpleasant. A doctor who used to at least act like they were listening to me while I talked now regularly steam rolled me. When asked about what options I had in terms of pain management, I was told there were few to none as I was unable to tolerate most opiates and a person of my age was far too young to be taking such medications, even while I lived with chronic pain so severe I was willing to amputate body parts to get relief. Simple requests like a referral to cardiology for terrifying symptoms that turned out to be not very serious and caused by POTS and mitral valve bowing, became a multi-week ordeal that required weeks of data and me drinking water to the point of discomfort to prove it was not caused by dehydration, just to be denied. They were simultaneously unqualified to have any opinion about whether or not EDS described my situation and certain that a diagnosis would be completely meaningless (it’s not, it’s actually extremely important), and refused me referrals to any genetic clinics on the grounds it was not their role. But it was their role to refuse me any kind of symptom management or attempts at improving my quality of life because I did not have a diagnosis, which they made nearly impossible to access. I gave up on getting any referrals and instead sought out a genetics clinic specialized in EDS who would see me without a referral. I applied to one and was sent to a rheumatologist who was also part of their hospital system. Within five minutes of me beginning to describe my symptoms, the rheumatologist asked me if I had EDS. They were unable to formally diagnose me, as they did not have the ability to order the tests I needed to confirm it, but they were able to establish PT and OT for me along with various other supports and documentation that have greatly improved my quality of life. Unfortunately, the wait for the clinic that was a part of their hospital was extremely long so I was forced to look for other clinics that would see me. I soon found the geneticist who diagnosed me with hEDS, and although physically I have never been in a worse state, the validation from that diagnosis along with the medical support I now receive has greatly improved my mental health and quality of life.

 My pain is now well-controlled, I have access to treatment and testing to quickly identify any new complications and manage them. My doctors are aware that I am at a high risk for bleeding and surgical complications, that I need stitches to stay in longer than normal, that I need general anesthesia for most procedures as local anesthetic does not work for EDS patients. I am no longer tempted to remove body parts to attempt to get rid of my pain, now that I have access to pain medication and surgical procedures to keep my pain within livable ranges. I have specialized physical and occupational therapy regularly, I receive saline infusions to pull me out of POTS crashes, medication to control my intercranial hypertension, and use specialized mobility aids so I can move around with minimal pain. I am not healthy and never will be, but I am happy.