I have struggled with being invalidated about my experiences as a disabled person my whole life. Like many others, I was told that I was too young to be experiencing certain types of pain or difficulty. I was told to ignore them and just keep up with the other kids. By the time I had graduated high school, I had somehow flung my exhausted body across the stage for months as a Jet in our production of West Side Story, accumulated almost a decade of experience in full-contact sports, and amassed a significant amount of pain in my upper body from being an artist and percussionist. When I went to college and navigated the unshoveled, icy sidewalks in Fredonia, New York, the pain became impossible to ignore. With the nearby hospital carrying a reputation for snubbing people who were reluctantly brought to the hospital in paralyzing, agonizing pain, I was unable to see any providers for my disabilities until I moved to Atlanta, Georgia. There, I received what I facetiously call a “woman’s diagnosis” from my first rheumatologist (I do not identify as a woman, but that is how I am perceived). This is a special kind of medical cruelty many female-presenting people experience once they finally bring forth their concerns about their health, and are told they have anxiety; the cure is exercises like yoga, maintaining a healthy sleep cycle, and seeing a psychiatrist.
It wasn’t until I had COVID-related heart difficulties (which have since cleared!) at the beginning of 2022, that I realized the doctor at the esteemed hospital in Atlanta had neglected to report significant results in my blood labs back in 2018—instead, he told me they all came back normal. This landed me at a new rheumatologist in upstate New York to reassess some of my chronic issues. I originally insisted that I did not have Ehlers-Danlos syndrome (EDS), even after I was diagnosed with POTS. I had some hypermobility, but nothing like what other typical EDS patients exhibit. We knew my biological father’s family had a different genetic condition that involves weak connective tissue, so we stuck with the diagnosis of undifferentiated connective tissue disorder, knowing that it could possibly be something else. It felt like we were waiting for my body to age and evolve until the point it could finally express symptoms that could direct us to a more concrete diagnosis. Finally, I asked if we could do an EDS genetic test panel. I expected yet another negative result that led to a diagnosis of exclusion once again. To my surprise, in November 2024, at the age of 29, a mutation in one of the genes linked to arthrochalasia Ehlers-Danlos syndrome (aEDS) was found! This was both terrifying and exciting. I received little education about what this condition is and little guidance on the next steps to take, so I immediately went to The Ehlers-Danlos Society website to find what I could about my specific gene mutation and read published studies. With the help of these resources, I was able to ask for referrals to the appropriate specialists for aEDS patients. I was able to see a cardiologist, a key doctor in aEDS treatment, and had a detailed conversation about my genetic results so we could design a regular monitoring schedule for my cardiovascular health. I also asked my general practitioner to support me in getting bone density scans and switched to a physical therapist who uses different techniques that better suit me. The work of these providers, with the right attitude and resources, has informed my healthcare in ways that many others who struggle to access a diagnosis do not receive. Feeling isolated, I looked for others who have aEDS online. I struggled to find anyone in my usual haunting spaces, so I signed up for support group sessions with The Ehlers-Danlos Society. There, I gained inspiration from people like me doing things I never thought I could do, which pushed me to pursue things I love once again.
Still unable to connect with anyone else with the arthrochalasia subtype, I decided to look deeper into the published research. I found out that the gene in which my aEDS mutation is located is also the gene that is mutated in people with osteogenesis imperfecta (OI), more commonly known as “brittle bone disease.” This better informed me on the specialist care that I pursue now. I dug deeper, hoping for more nuanced guidance on what treatments to pursue for aEDS patients. In the research resources posted on the aEDS page of The Ehlers-Danlos Society’s website, the studies reported less than 50 published cases of aEDS worldwide. I have since been passionate about talking about aEDS, its intersection with OI, and learning more about rare diseases. Realizing how few reported cases there were, I wanted to prove there are more of us. I immediately went to The Ehlers-Danlos Society’s website to sign up for the DICE Global Registry and to see what research studies were available. Unfortunately, all other studies posted at the time were no longer looking for people, but I noticed the Global Biobank described on the website. Seeing that it was enrolling in Philadelphia, I immediately wanted to sign up! It was the perfect distance away for us to contribute to something I really valued—and a way I could finally give back after being turned away from the same clinical trials my loved ones were participating in. I recognized, as someone who is enthusiastic about ethical medical research and who has a rarer type, that this was something I needed to do. I would not have been able to participate if it weren’t for the donations that allowed us to get a hotel room on-site and reimbursement for gas. My ultimate goal is to contribute to research so that we can create safer environments to seek better healthcare; by studying the condition, creating better diagnostics and treatments, and educating healthcare providers, we can redefine what the experience of an EDS or hypermobility spectrum disorders (HSD) patient looks like. I look forward to changing attitudes towards this diagnosis and pushing the research to newer conversations; I personally have many other health complications I don’t seem to share with other types, and I am still searching for answers. While considering the role of connective tissue within my bones, I hope to learn more about its intersections with aEDS, immune system deficiencies, full-body nerve pain, and more.
The biobank event was a touching and memorable experience for me. It was the first, and I fear the only, time someone who truly knew my rare type had spoken with me. I learned more about my unique body in the evaluation than I have learned in any of the other countless medical offices I had been to before. I had always been ignored or met with disgust when I’d ask, “Why does my body do this?” I unfortunately did not get to meet them, but I learned I was one of three people with aEDS who attended. Just that information eased my sense of loneliness. Instead, I had the privilege of speaking with the organizers as the last patient of the event, where I learned about Willem Mesman’s donation for people with aEDS to participate in the Global Biobank in memory of his daughter, Claire. It gave me new inspiration to be louder and prouder about having aEDS! If you are considering donating to the Biobank, I highly recommend it. If you are passionate about helping evolve EDS and HSD research into a new era in an effort to help others and those who come after us, please do it! It is an experience perfectly curated for us, creating a comfortable and supportive environment. I hope my story can inspire you to help contribute and make a change.
Riley (xe/xir/xirs/xirself)
You can follow my art account on Instagram @reg.in.color
