What it's like having a "Rare Disease"
Sjogren's is still listed on NIH's website for genetic and rare diseases, even though the disease is estimated to affect 1-4 million people in the United States.
Some official websites will distinguish primary Sjogren's from secondary and label primary Sjogren's as rare (more on that later...). Don't get me wrong, there are some benefits to being labeled as rare. For one thing, treatments for primary Sjogren's can benefit from the Orphan Drug Act and receive expedited regulatory approval to conduct clinical trials, which can bring the treatments to market. Being labeled as rare can also give us access to the rare disease community, whose members often share the same struggles: delayed diagnosis, lack of effective treatment, shortage of specialists, and so on. The problem arises when physicians are taught to essentially not diagnose rare diseases.
Doctors love to say, "when you hear hooves, think horses not zebras." The problem with this is, if you think there are only horses, you will only find horses, and you will call zebras horses and treat them as if they were horses. This is especially the case with Sjogren's (and perhaps all autoimmune diseases), because it is an invisible illness and requires specific tests to detect autoimmunity. But if a doctor doesn't think he'll encounter any patients with Sjogren's, then he won't order the tests that can confirm or rule out the disease. Instead, he'll think you probably just have depression or anxiety, or are just making up your symptoms for attention (which is probably actually a rare phenomenon, yet doctors are more willing to believe this than accept that they've encountered a more nuanced disease that they do not fully understand).
When doctors are only looking to find horses, they will only see horses, which will then reinforce their preconceived notion that there are no zebras (or so few that they are unlikely to encounter any). It is a vicious cycle that hinders the proper diagnosis and documentation of patients with Sjogren's and creates a devastating impact for patients.
Even in the face of scientific evidence that Sjogren's is more common than previously thought, I have still encountered many rheumatology specialists who claim they'd never had a patient with Sjogren's before. And the prejudice doesn't just extend to the diagnosis, but also to the symptoms attributed to Sjogren's. I have met multiple specialists at highly regarded institutions that told me Sjogren's should just be dry eyes and dry mouth. Even when I tell them those are not my symptoms and that my main symptom is the overwhelming fatigue/flu-like experience, they would rather attribute that to depression or something else than accept it as a symptom of Sjogren's.
I've come to realize that the biggest enemy to understanding and treating patients with "rare" diseases is doctors who believe there is certainty: that this disease is definitely rare and its symptoms is definitely only dryness. In reality, there is little understanding of the disease and doctors should be approaching the disease with a scientific mindset, which is to learn more about its various manifestations from each new patient they encounter and gather the data to formulate a better set of diagnostic criteria.
I wonder how many others are living with undiagnosed, "rare" diseases and how prevalent these "rare" diseases really are. What is your experience with your "rare" disease journey? Please share in comments or let me know through the contact form on the bottom.