A disease is considered as rare in Europe if it affects fewer than 1 in 2000 people. According to rarediseaseday.org, there are over 6000 diseases classified as rare; 80% of which have a known genetic origin, whereas others are caused by various other factors, such as bacterial or viral infections, allergies or are degenerative.
The problem with these diseases is that since they are rare, not many people know about them, and there is therefore less of an effort to find a cure than with other well-known diseases. The lack of scientific knowledge on the disease often leads to a late or wrong diagnosis, and therefore a progression of the symptoms. Since the disease is not well understood, treatment can be ineffective and very costly.
This year, the slogan for Rare Disease Day is “With research, possibilities are limitless”. The emphasis is really on the importance of research, as it brings hope to the millions of people who live with a rare disease across the world. The promotional video (see below) highlights the impact of the lack of knowledge on these diseases. More research into these diseases and how to treat them, will greatly improve the lives of the people effected and their families, and save a lot of lives.
The Rare Disease Day website has some case studies of people who live with rare diseases, such as pemphigus, a serious condition which causes blisters to develop on the skin and lining of the mouth, nose, throat and genitals, retinitis pigmentosa, a degenerative disease of the eye, and congenital myasthenic syndrome, an impairment of neuromuscular transmission.
This year, events took place in over 90 countries around the world, compared to only 18 when Rare Disease Day was first organised in 2008. A list of events per country is available here. Most events will have already happened, but the website has a lot of information about how you yourself can help raise awareness for these diseases, and will keep you up to date on how you can get involved with Rare Disease Day 2018!