- as seen on rarediseases.org as a part of Pride stories -
I am one of the 47% of trans adults who have found that health-care providers know “not too much” or “nothing at all” about providing care to someone like me. I am also one of the 38% of trans adults who have found it somewhat-to-very difficult to find providers who treat me with dignity and respect. And I am absolutely one of the one-in-three trans adults who has had to educate my own doctors about providing health care to someone in a body like mine. However, it is not just my trans identity that puts me in this category; it is also my rare disease status.
I suspect many if not most rare disease patients, of which there are between 25-30 million in the US, will deeply relate to those figures from this Washington Post and Kaiser Family Foundation survey of trans patients, even if they are cisgender. We are a community that uses the zebra as our mascot—a rebuttal to the quote attributed to Dr. Theodore Woodward that states, “When you hear hoofbeats, think horses, not zebras.” Doctors and nurses are trained to assume that a patient’s symptoms point to something common, and to rule out every common possibility before considering that a rare condition could be present. Rare disease patients are all too familiar with entering a doctor’s office knowing they are a “zebra” but being treated like a horse by providers who lack knowledge about their conditions and are distrustful of patient-reported information. We are thus forced to become the experts of our own diseases and to educate our providers—if they will listen.
I can attest that my experience navigating the health-care system for years as a trans patient prepared me for the rigorous self-advocacy necessary to navigate the system as a rare patient. In fact, it was my pursuit of gender-affirming health care that set me on my diagnostic odyssey.
[Image Description: a graphic made by NORD shows a ribbon displaying this is a Rare Community Spotlight, as well as my headshot, the NORD logo, the logo for celebrating 40 years of NORD, the hashtag PrideMonth along with the flag, and the following quote, "My experience navigating the health-care system for years as a trans patient prepared me for the rigorous self-advocacy necessary to navigate the system as a rare patient. In fact, it was my pursuit of gender-affirming health care that set me on my diagnostic odyssey."]
In the summer of 2020, almost a year into my medical transition, I watched a surgeon double-take my pre-op work and fill with shock and confusion as he prepared to tell me he could not perform the gender-affirming top surgery I had been just minutes away from receiving. My prothrombin time—the time it takes for a person’s blood to clot—was demonstrative of blood “about half as thin as the average person,” which left the surgeon no choice but to not operate because I would “bleed out on the table and die.” It was the first time in his career that he had ever seen anything like what my test results displayed, and he had no name for what he was seeing. Keep in mind, I was being deadnamed and misgendered by the entire medical team that was supposed to perform gender-affirming surgery on me that day. It was ultimately their lack of rare disease knowledge, not their discriminatory behavior, that forced me to find a completely new medical team, as this one no longer felt qualified to work with me.
From there, I was referred to a hematologist. In the time between appointments, I had compiled a spreadsheet of possible disorders based on research from the National Organization for Rare Disorders. Included on that list was Factor-VII deficiency, the rare blood disorder I would ultimately be diagnosed with. This hematologist refused to consider the possibility of a rare condition, and we went back and forth for three months, during which time no assay tests measuring blood factors were administered. Fed up with my persistence, he referred me to another hospital that performed all manner of tests (including for snake venom) before finally performing the Factor-VII assay test that resulted in my diagnosis: severe Factor-VII deficiency. The doctor who delivered this diagnosis to me said there was no treatment and therefore no reason for me to return. He also advised me to make a will. I was 23.
Newly diagnosed, I continued to pursue top surgery, which would require expensive infusions of Factor-VII before and during the procedure. It was only through a referral from a high-profile trans acquaintance that I finally found a surgeon willing to perform the surgery. They required sign-off from their hospital’s hematologist, who insisted on re-diagnosing me himself. That process involved him asking me if I’d consumed rat poisoning, insisting that I couldn’t have the “real” Factor-VII deficiency despite my prior diagnosis, and directing me to take 100 Vitamin K pills each day for one week, which I had to empty into one big pile and put in a smoothie each day. After that week, my prothrombin time was even lower than before, undeniably indicating severe factor deficiency. Only then did he approve the infusions.
This entire process took over a year, during which time I had three canceled surgery dates. When the fourth date proved successful, I almost couldn’t believe it. To this day, it is still hard for me to fathom that I actually had top surgery — that some combination of persistent self-advocacy, perseverance through discrimination, and sheer luck had finally paid off. You can hear the hopelessness in the music and lyrics behind a song I wrote in the purgatory between the first surgery date and the last, consumed by the isolated experience of crying by myself as the medical ignorance did nothing but keep piling on. While others may see and celebrate my surgical scars, they cannot see the invisible scars of the medical gaslighting I endured, which keep me wary of entering emergency rooms to this day.
My experiences, along with the combined testimonies of trans and rare disease patients around the world, prove a throughline within medicine that I believe is getting in the way of a healthier experience for everyone: that medical professionals are too often on auto-pilot, looking for horses when faced with zebras, and not willing enough to learn from their patients’ self-reported experiences. I would go as far as to add that those with the specialized knowledge necessary to diagnose rare diseases are seemingly even less likely to have an up-to-date education on bedside manner that is inclusive of trans and gender-nonconforming people.
It is time for medical professionals to move on from questioning trans existence and start expanding their definition of what is included in gender-affirming care, ESPECIALLY considering the many rare disorders that contribute to the intersex experience, a core part of our community. (See my website for intersex info and resources.) Taking into account the more than 7,000 known rare diseases a person may live with, there is clearly no one-size-fits-all approach to care. The only method that works across all patients is truly listening to them, which requires us to take those assumptions based on outdated adages about hoofbeats, as well as assumptions about how a given gender must present, and put them aside for good.