In the last 20 years, we have seen a rise in diagnosis of rare diseases. While this sounds a little odd in that we suddenly have these diseases appearing in our society, the reality is that most of them have been around for quite a while. We simply have misdiagnosed folks with mental illness rather than the illness they actually suffer with.
This is not an uncommon occurrence. The medical field is not a perfect system of diagnosis and treatment. We are humans taking care of humans, and if we don’t already know about a problem, it’s hard to diagnose. In the past, we have had a history of labelling folks with mental illness when we cannot diagnose properly. At one time, society believed that too much sexual intercourse was a sign of mental illness. Sex addiction does exist, but the puritanical views of that historical era labelled those without an actual sex addiction as lunatics and put them in an asylum. Just over 20 years ago, children were often diagnosed with manic-depressive disorder (now referred to as bipolar disorder) that we now know had been misdiagnosed and were suffering from post-traumatic disorder (PTSD).
With the existence of Munchausen syndrome (now referred to as factitious disorder) and hypochondria, it’s easy to see how misdiagnosis can occur. Neither are easily diagnosable unless you have had plenty of experience in that arena. Most people who suffer from factitious disorder also tend to float around from hospital to hospital and clinic to clinic because they don’t receive the care that they want. Now consider an individual who truly has a legitimate issue and has to travel from hospital to hospital and clinic to clinic in an effort just to have someone listen to them and help them. They may look like they have a mental disorder rather than a true ailment.
How do we combat this issue? How do we know when a patient is truly suffering from a rare disease? As pharmacists, we listen to the patients as they lament about their frustrations to be heard and yet are unable to diagnose. The short answer is to suggest the patient seeks out a geneticist and/or an immunologist. Both professionals have been making serious headway in seeing how genetics and the immune system can impact a patient’s response to their environment. All too often, that is how the rare disease is diagnosed.