As a disability sibling and scholar, my professional and personal lives blur. They unfold within a tension and, when I’m in the thick of interviews with family members or am sifting through my existing data, I necessarily engage with the words and experiences more fully – or simply differently – than if I had the luxury of empathetic detachment. The stories cut just too close to the quick. The modern term of art would be trigger warning: my data, my project, is one continuous trigger warning. But that’s so dramatic. Lives happen, experiences unfold, and we deal with the affective and practical worlds in which we land. So I sweat out the memories in my long runs or watching an episode of “Parks and Recreation” on Netflix at the end of a day of recording and coding data. I knead the old negativity away as I prepare pizza dough from scratch, marveling as it doubles in size, or baking chocolate chip cookies. I do what I can to detoxify the old stresses, doubts, and what-if’s of my own family’s story as I listen to others share theirs. It’s a balancing act, but it’s the one I chose.
My research examines family experiences with rare and undiagnosed disabilities. This is an incredibly important and largely unrecognized population numbering well into the millions, and my work is part of a slowly stirring effort to raise awareness about this world. On both a personal and intellectual level, I am fascinated by the possibilities for diagnostic identity – for reframing a lack of diagnosis not as an individual anomaly (often with heavy moral undertones), but rather as an expansive reality that is neither a negation of modern biomedicine’s promises nor an inherently isolating and ambiguous embodied reality.
My sister has a rare genetic syndrome and was undiagnosed for much of her childhood, although I somehow did not realize this until the last few years. I simply knew that there was no clear answer to the dreaded questions of “what’s wrong with her?” There was no way around the long-winded response: “She has visual disabilities and is legally blind. She was born with some hearing, but lost it due to a series of antibiotic-resistent staph infections. She is nonverbal, although we do not know why. She has various minor medical and clinical symptoms, such as being born with a cleft pallet and misshapen pupils. She has intellectual disabilities, but we don’t think she was born with them.” People didn’t want that. They wanted an easily digestible label. As Katie got older, we called her “deafblind.” She was, of course, on the deafblind spectrum. But the name didn’t fit, not in the social parlance of disability. And it did absolutely nothing to connect my family with others in similar situations. We had no community. We were perpetually floating, (mis)led to believe that we were a singular case.
Katie received a clinical diagnosis of CHARGE syndrome when she was approaching adolescence, I believe. It’s all a blur, to be honest. What stands out unequivocally is that she was undiagnosed for far too long. And even today, when the average time-to-diagnosis of a rare disorder is over seven years, her story is far less unique than it should be. Biomedical technologies have made incredibly advances, particularly in the form of genetics, and the digital revolution gives us access to information and a previously unimaginable rate and speed. Nonetheless, diagnostic odysseys continue. And they continue to evade far too many individuals and families for far too many years.
An anthropologist by training, I have been enculturated to think in terms of obtuse questions about on-the-ground realities. I say “enculturated” because it’s not simply an approach that I learned to apply, but rather a broader way to frame my world. I ask big, bold questions about the things that go unnoticed, unacknowledged, or unspoken. Why has the rare and undiagnosed population been so marginalized and ignored? What might this reveal about broader anxieties, fears, norms, and hopes? A lot, I suspect. It is time for those of us with other skills and experiences – the researchers, families, artists, storytellers, and allies – to begin shifting the social and cultural world of diagnostic ambiguity. It is time to raise awareness of this all-too-common reality.
If you are curious about this topic, please keep an eye out for my work. I will publicize any articles or relevant findings here on my blog or via my Twitter account (see sidebar). I also encourage readers to check out “Undiagnosed: Medical Refugees,” a documentary by a fantastic team of filmmakers and allies that is the first to really approach the undiagnosed as a medical population that must be recognized. There is also a growing number of organizations working in this area, including U.R. Our Hope, SWAN USA, the NIH Undiagnosed Diseases Program, and more.