It’s a dubious distinction to suffer from a rare, or relatively rare, disease. Believe me, there are many other ways in which I would rather be considered special.
There are unique challenges with having developed a rare disease. Such diseases, after all, are rare. Physicians are not trained to think of rare diagnoses as differential diagnoses. They are trained to initially consider more frequently occurring diagnoses. (If you hear hoofbeats, think of a horse approaching, as opposed to a zebra).
More common diagnoses may share the very same symptoms as those that present in rare diagnoses. In 2002, I was diagnosed with asthma. Nearly five years later, I was accurately diagnosed with having a subglottic stenosis.
I can’t help but wonder how different my current medical status might possibly be if I had initially received the correct diagnosis. Of course, this would have led to initiating the most effective medical treatments at a far earlier stage.
More than one physician has informed me that I’m actually his/her first patient who has been diagnosed with a subglottic stenosis. This is less than reassuring to an apprehensive patient in need of relief from symptoms.
Furthermore, research funding is relatively more limited for rare diseases. There is less profit to be made for treating relatively rare disorders, after all.
Ultimately, this affects the types of treatments to which patients have access. Patients with relatively rare diagnoses often feel very isolated, since it is very challenging for them to find others who can relate to their experiences.
Thankfully, online forms of chronic illness support groups have afforded individuals with rare diseases the opportunity to make meaningful connections.