“Everything has been said before, but since nobody listens we have to keep going back and beginning all over again.” ~Andre Gide
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I wanted to bring you another guest post, this time from someone that I’ve been in contact with more than once and how always offers a very friendly ear, as well as a VERY experienced brain, in helping others learn about, cope, and deal with their own journey with a rare disease:
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4 years ago, my neurologist decided that there is no known neurological disease that can explain my illness (this was after 3 years in which he couldn’t make his mind if I do or do not have MG). At the same time my respiratory physicians told me that unless I am injecting myself with a muscle relaxant (which I knew I wasn’t)I have episodes of respiratory failure, and would eventually require respiratory support.
I was left on my own to decide what to do with this very conflicting information.
In fact, as my neurologist (who truly wanted to help me receive the care I require) made sure that everyone around me will be aware of my “emotional problems” and need for emotional support, I was really on my own.(not that I am against emotional support, but not when it comes instead of proper medical treatment).
The summary letter my neurologist gave me, reminded me of the case description section of a clinicopathological (CPC) in a medical journal called NEJM. After which always come the brilliant discussion of how this mystery was eventually solved.
I was determined to find the solution before it is too late and I find myself (according to what my respiratory physicians planned for me) in a nursing home connected to a vent.
Recently, as part of the 200 year celebration of this journal, they asked for personal stories related to it. And, it reminded me of that day, and for the first time I wrote about it under my real name.
It was my way of telling the medical community, from a personal perspective, that rare disease and even rare presentations of rare diseases do exist. And that it is very easy to dismiss them as unexplained or impossible, with out realizing the consequences of doing so.
On the other hand it takes a lot of time and effort to figure it out, and I doubt that anyone but me would have had the motivation to do so.
Which explains why it is unfortunately not so rare, in the busy medical world, to find people who remain with “unexplained diseases” and only a minority is eventually figured out.
Like many physicians around the world, since the early days of my training the NEJM had been a continuing source of knowledge and a place to practice and improve my clinical thought process and skills. I didn’t know that one day it would also provide significant hope and the tools required to decipher my own illness. It was a very hard day for me when my neurologist, after nearly three years of various tests and therapeutic trials, told me there is nothing more he can do for me. I was suffering from an “unexplained neurological illness” that was by now severely debilitating and, according to my pulmonologist, could even endanger my life. The letter my neurologist gave me, so that I could consult others, mostly looked like the case description section of a CPC. There were no suggestions of what my illness could be, or what further tests should be done. After a short while of despair, I remembered all those times since being a fourth year medical student in which I would eagerly read those cases in the journal and try to think what the answer could be. I would sometimes be successful in figuring them out and sometimes fascinated by the beauty and complexity of our profession. Time and again I was impressed by how a meticulous assembly of seemingly unimportant and easily overlooked details, combined with proper knowledge and skills, can lead to the diagnosis and management of a seemingly unexplained illness, preferably before it is too late to intervene. This gave me enormous hope and motivation to search for a solution for my own “mystery illness”, before it was too late. It took much patience, time and involved consultations with many physicians and scientists around the world, as well as learning as much as I could on my own, to gradually put together the pieces of this complicated puzzle, and find not only the diagnosis, but also the optimal management approach. Putting together seemingly unexplained symptoms and findings eventually led to the understanding of a possible novel disease mechanism causing an unusual presentation, unexpected response to commonly used treatments and confusingly normal test results. This was the most rewarding CPC solution, as it restored at least part of my personal and professional life, helped me find those who could help and enabled me to go back to my clinical and academic work, albeit in a somewhat different way.
Michal Haran/ Kaplan Medical Center
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If you are affected by a rare disease, or you know someone who is, please feel free to contact me if you would like to share your experience on here as that would be more than welcome!