Show your support by simply watching and sharing the official video of Rare Disease Day to help bring about change. This is the 6th year of what has now become an annual event to raise public awareness, and although the idea of Rare Disease Day 2013 is to inform and educate the general community, it's aims are also to bring these diseases to the forefront making politicians, researchers and professionals in the health field pay more attention.
Having a rare disease is very isolating for the patient and family. Often there are no support groups, and no cure or even treatment available. I guess the cruel reality is, that it is not cost effective to the pharmaceutical companies to spend millions on new medications for a rare disease that has a relatively small number of sufferers. I know only too well, for I was born with Gaucher disease, a genetic rare disorder that until 21 years ago, there was no treatment available at all. Thanks to a very special Professor, who made Gaucher disease his life's work, the first Gaucher clinic was opened, and a Gaucher Association was created to offer support and help to fellow sufferers and their families. My husband and I were part of this initial committee that helped found what today is a successful group. Our numbers were small to start with, but as word began to spread, other sufferers started to emerge out of the woodwork and today there are hundreds of patients and their families who have gained from the keen dedication of a marvellous Professor and the drive and determination of an amazing Chairlady who created the Association. Together in numbers we are strong and have a voice.