THE BLOG

Rare Disease Awareness Day 2014

27/02/2014 11:30 | Updated 28 April 2014

The last day of February each year has been designated as Rare Disease Awareness Day, a world wide effort to bring greater awareness to the general public, governments, health policy makers, along with research and development. The idea of bringing the plight of those suffering rare diseases to the international stage was first started in 2008 by Eurordis and its Council of National Alliances and Patient Organisations.

Everyone's heard of heart disease, diabetes, cancer, AIDS, Alzheimer's and countless other diseases. However when suffering a rare disease, many don't know about, or understand what is entailed, being a minority in the community, one encounters many obstacles and difficulties simply due to the lack of knowledge relating to uncommon illnesses.

I was born with Gaucher disease, a genetic disorder (to put it in a nutshell, my body is missing an important enzyme), there are approximately only 10,000 known patients worldwide. To top off my rare condition, as if this wasn't enough, I was diagnosed at the age of 44 with Parkinson's. Everyone has heard the name Parkinson's, for it's a common and well known disease, but a patient suffering both Gaucher and Parkinson's is rare indeed. In fact so rare, there are barely 200 of us in the entire world!

I am quite sure anyone in my situation, living with a rare disease, has had to explain repeatedly about their particular illness on many occasion. Not all diseases are immediately recognisable on a visual basis alone, and a patient can suffer years in silence, receive initial misdiagnosis along with the feeling of terrible isolation. I've found it exhausting over the years repeating myself and explaining to family and friends, or neighbours who show genuine interest and care, but haven't a clue as to what its like living with a rare condition. Even entering hospital, can be a harrowing experience especially when confronted with doctors and nurses who haven't heard of Gaucher disease. I find myself once again swapping roles from patient to lecturer, giving a short discourse (which over time I've got down pat and recite almost parrot fashion) delivering a concise summary of the disease. Most doctors during their medical training have likely read just the two meagre paragraphs that inadequately describe Gaucher disease, but have never actually met a Gaucher patient before. Suddenly after all those years of studying, coming face to face with someone like me, its here a vague recollection of those two insignificant paragraphs about Gaucher disease that now seem far more important and interesting than back then. This is not a comforting or reassuring situation, but its what many people like me, who suffer from a rare condition have to deal with.

Over the years with education and great efforts made to enlighten the general public, such as Rare Disease Awareness Day, huge strides and changes have been made, but we still have a long way to go. Often with a rare disease, certain problems arise from insufficient information, to no available support groups, where social and heavy financial burdens are ultimately placed on patients and their families. A serious problem is lack of medication due to the small number of patients suffering a particular rare disease, for it is often not financially viable for pharmaceutical companies to invest years into research and development, clinical trials, not to mention the immense funds necessary to produce a new expensive treatment for a very small percentage of the population. As awful as this may sound, the saying "the needs of the many outweigh the needs of the few"; unfortunately sad but true, due to financial budgets and economics of governmental bodies.

I am very lucky that time, energy and funding was put into creating a successful Enzyme Replacement Therapy administered by infusion for Gaucher disease. I am extremely grateful to the doctors and professionals who were passionate about their vocation and with tremendous vision and determination made Gaucher disease their life's work. Without these special individuals, my life and that of all other Gaucher patients around the world would be very different today.

If you suffer from a rare disease, here is your chance to speak up. Leave a comment below (anonymously if you prefer) and take this opportunity to inform and educate the general public of a rare disease they may not have heard of. You may also like to take a look at The Rare Disease Day site.

http://www.elainebenton.net/