Sarah Berkowitz
Having narcolepsy is exhausting, literally. Excessive sleepiness, cataplexy, and brain fog are just the symptoms of an invisible disease, compounded by the frustration and struggle to receive a diagnosis and get approved for treatment. A diagnosis of narcolepsy takes two years longer in women than men (Won et al, 2014). Gender bias in medicine furthers a woman’s journey of invalidation, inaccurate diagnoses, and medical gaslighting that is not unique to one disease or disorder. Why was a readily available sleep study so out of reach, even in the presence of multiple physicians who could have ordered the test? In medicine, medical students are taught the maxim, “When you hear hoofbeats, think horse, not Zebra:” The goal is to encourage medical students to look for what the most likely cause of an issue is first. While a zebra and a horse outside your door would be a fine guess if all you had to work off were the sound, it’s much more likely to be a horse than a zebra that escaped the zoo and made it to your front door. Well-intentioned, this may be effective in deterring eager medical students from looking for uncommon diseases they only read about in textbooks, putting them on a path for what the most likely answer may be. It inadvertently dissuades healthcare professionals from finding us zebras when we are there. Searching for patterns of what is the most common and not what is the most likely diagnosis for a particular patient.
Over the five-year period of searching for a diagnosis, I saw over half a dozen doctors. I must have appeared as an otherwise healthy 16-year-old complaining of brain fog, exhaustion, difficulty waking to my alarm, and insomnia. I seemed like a typical teenager and was told to practice good sleep hygiene, stay off my phone, and avoid caffeine after 3:00 pm. This escalated to lab work to test for anemia, b12 deficiencies, referrals to rheumatologists and psychiatrists, and screenings of my mental health to rule out depression as the cause. Even neurologists, the same specialists who can order the sleep study I need for a proper diagnosis, missed it entirely, instead slapping on labels of other sleep disorders, from restless leg syndrome to delayed sleep phase disorder. Adding more and more medications into a chemical cocktail that was far too complex for an otherwise healthy teenager. None helped much or caused me to chase my tail with side effects. A vicious cycle of side effects that feels like you can’t win.
There was a breaking point as hot tears streamed down my face in a parking lot. I had just left yet another doctor’s appointment, who raised their eyebrows in surprise as they quietly reviewed my long list of medications and extensive medical testing history.
Another doctor that didn’t provide me with an answer or a solution. The frustration of exhaustion compounded with gaslighting made it tempting to give up, to accept that maybe this is my reality and life will have to be different for me. I did not give up. I became my own best advocate. Diving into peer-reviewed articles on narcolepsy, finding cases of atypical presentations of an already rare disease. People like me that often present with insomnia at night and hypersomnia during the day. At my next
doctor’s appointment, I was ready to advocate for myself. I printed articles out with me and was prepared to push to find answers because there had to be something more of a quality of life than what I was experiencing.
I found a doctor who heard the hoofbeats but resisted the urge to leap to conclusions, unlike the others. He took a step closer, peered through the peephole, caught a glimpse of black and white stripes, and didn’t flinch. He sat down and listened without judgment. A sleep latency test was ordered, and in less than a month, I received a diagnosis. A diagnosis that validated every experience I had endured, providing answers and paving the way for treatment, allowing me to live life more fully.
The journey to diagnosis is a challenging one for zebras like me. It’s an isolating experience grappling with the symptoms of a disease without the validation of a diagnosis, lacking the support and treatment of a doctor, and even the understanding of a community. It’s a lonely existence being a zebra.
Sources:
1. Won, Christine & Mahmoudi, Mandana & Qin, Li & Purvis, Taylor & Mathur, Aditi & Mohsenin, Vahid. (2014). The Impact of Gender on Timeliness of Narcolepsy Diagnosis. Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine. 10. 89-95. 10.5664/jcsm.3370.