What is a rare disease?

What is a rare disease? how can it be diagnosed? how is it treated?

World Rare Disease Day was February 28, 2022. Obviously, I forgot and skipped a date because I and World Days don’t get along.

Tackling the topic of rare diseases is very complicated, not simple. There are references to the various organizations and departments that deal with it in an excellent way.

I didn’t have a real rare disease, but I had a very difficult case to diagnose and I also went through rare diseases. One rightly asks “So what are you writing to do?” … and I write because I know what it means when no one believes you, you have symptoms, you explain them and no one believes you, and tells you that maybe you are exaggerating.

I had chronic meningitis on an autoimmune basis with cerebral venous thrombosis that made me completely deaf (then the scientific diagnosis is more complex and I could only place the cochlear implant on one side). Mine is not a rare “officially recognized” disease (it was too good).

This diagnosis arrived in May 2021 and I have been ill since April 2019. Two years spent between hospitals and times when the autoimmune disease regressed and I was fine with others when I just wanted to die from the pain. I once seriously thought about getting it over with, throwing myself off the fourth floor. (then I thought it wasn’t worth it … and that it was just a thought in a desperate moment). I have done all possible tests, ranging from tropical diseases, viruses, bacteria, and rare diseases.

In this part of the search for the diagnosis, the possible therapy, the cure, the question was “what the hell do I have? Why doesn’t it go away? Why don’t all these drugs that I take work?

In the end, the answer was given to me in the “rare diseases” team. They really understood what happened to me and what it was. I understood that when the other doctors told me that maybe I was exaggerating in the description of the pain, or of the symptoms and they told me that maybe I had the cervical, they were wrong. I was right, what my body was telling me was true. It wasn’t a lesser evil … it was a real pain. Many times I have fought and even quarreled with doctors who did not believe me.

I can’t answer what a rare disease is, but I know what it’s like to have it. I learned to listen to my body, my physical pain.

And most of all, I know now that rare disease doctors treat you differently. They know or at least imagine what you are going through and are there to find the solution. Luckily there are doctors like that.

Like mine.