I was diagnosed with hypermobile-Ehlers Danlos syndrome (hEDS), Postural orthostatic Tachycardia syndrome (PoTS), and related comorbidities when I was 20. It represented the culmination of six years of searching for answers to explain my complex symptom presentation and the reason for a lifetime of recurrent pain.
After such a tumultuous diagnostic odyssey, it was also a moment of profound relief: in an instant, I found a name for every symptom that had mysteriously hounded and disabled me. Most transformatively, with that new understanding came hope for a future I was now empowered to advocate for and build towards. Accompanied by the knowledge of how I was built, I could finally begin to work with my body to find accommodations and solutions, instead of continually waging war against it in the dark.
In the four years since my diagnosis, I have been gifted with the opportunity to live life immersive and vibrantly: studying sociology, history, and philosophy at university; conducting research throughout American and European cities; trekking through the rainforests of Costa Rica; and finding meaningful work, friendship, and community. While there have been setbacks, with my hEDS ever-present and remaining a source of often severe pain; the tools found in physical therapy, careful medical management, and consistent accommodations have made it so that it is rarely debilitating anymore. Critically, I am fortunate to now have an interdisciplinary clinical team that listens to me, is responsive to my concerns, and partners with me to resolve the challenges and barriers my genetic code brings. Without their attentive support, my participation in life would be much less active.
While I am thankful for this care, that gratitude is punctured by the grief of another truth: for years, the medical treatment I received was not only inadequate but hostile and negligent. My reports of pain, weakness, and palpitations were dismissed as psychosomatic, and when I sought to push back against that assessment I was berated. Falsely blamed for what physicians assumed were a pattern of poor sleep and unmanaged anxiety, or at times outright accused of subconsciously wanting to be ill. In reality, I did not have an anxiety disorder at all and, except when pain kept me jolted awake, remained desperately committed to a schedule of sleep hygiene in an attempt to mitigate the fatigue I was experiencing. Yet, the more I worked to explain this and advocate for better care, the more I was maligned. I was finally diagnosed only because a friend was, allowing me to connect the dots on my own and seek out appropriate specialist assessment, confirmation, and treatment.
Becoming a part of the zebra community upon receiving my diagnosis taught me that I was not alone: the dismissal, denial, and unaddressed pain I was faced with are endemic to the EDS community. Rather than isolated incidents of chance or individual bad actors, our experiences instead reflect systemic cultural harms and biases that medicine is not immune to. To comprehensively address diagnostic delays and improve patient outcomes, we will need to keep these in mind as we further our education and advocacy work.
For example, we know that hEDS appears to present more commonly or more prominently in people designated female at birth. Unfortunately, research has consistently shown that providers are less likely to take the pain of people they perceive to be female seriously and are more likely to attribute symptoms to psychiatric causes. This is the legacy of a medical culture that historically attributed women’s experience to episodes of emotional “hysteria”. As such, even though I am not a woman (I am transgender non-binary, they/them pronouns), my physicians’ perception of me as female likely led me to be subjected to an unconscious pattern of gender bias. Due to this bias, my reports of pain and fatigue had a greater chance of being interpreted as psychosomatic. It’s also possible my providers were viewing my symptoms through the frame of “trans broken arm syndrome”: the phenomenon in which medical practitioners attribute any of a transgender patient’s experiences to the physical and emotional aspects of our identity. Similar biases persist against people of color, low-income individuals, people with mental illness and substance use disorders, people at higher weights, and additional intersectional experiences and identities.
While genetic research will be critical to solving the EDS puzzle, we must also seek to more deeply understand and address the role of health disparities in determining patient outcomes: social determinants of health matter. Without doing so, we will fail to actualize our vision for a world in which all zebras have access to affordable, accessible, and comprehensive medical care that allows us to live our best lives.
Because in 2020, it’s time we break down barriers to equitable care for everyone.
