Wednesday, August 3, 2016

Orphan diseases - orphan explanations

Having a rare disease (called orphan diseases by the medical researches) is a unique and exhausting challenge for the patients, their friends and families (that is if the latter two stay around long enough).   It is an isolating condition to have, as many will question the existence of the disease.
This is what I would like you to know about my rare disease:  
Most doctors have never heard of, nor seen a patient with the disease.
Ask me about my disease, don’t question its existence.
Do not give advice.  I know more about my disease than my own doctors.
Smiling, laughing and working on the internet does not mean that I am cured.  It just means that I am still doing these things despite being ill.
These diseases are only “rare” until it happens to you or someone you love.
Just because your disease does not fit into an easy diagnosable box does not mean that you should be dismissed or overlooked.
Research is a big deal because there are not enough of us to warrant government funding.
I hate it when people say “Shame, I hope you get better soon”- like it is some kind of flu.
Nothing about rare diseases is easy – not the diagnosis, not the medical care and not living with it. 
Physicians need to listen and be compassionate and understanding instead of being dismissive of you because they don’t want their own ignorance to be seen.
It is a very isolating condition that is imposed on your life and one that makes you look at your own mortality and the terror that the thought of your non-existence brings you.  
Stop saying that you know someone who also has the disease.  You will invariably be completely wrong and have only picked up one or two words you recognise.  When I ask if the person is still alive, I get told “no”… so I wonder what the hell the person was getting at.  I do not need that extra information.  It is hard enough to cope with what I have.  One of the words in your diagnosis may be one that someone else has heard but he or she seldom knows the different variations of that diagnosis.
One in three million means that it is possible.  And those “one’s” need to count!
A rear disease makes one learn things you never thought possible and your use of medical jargon will make you sound like a professor of medicine.  
It can’t be fixed with a simple visit to the doctor. No question can be answered in a single sentence.  There isn’t a drug that can cure it.  It’s always going to be like that without research.   Hope is sometimes the only thing we have. 
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