Rare diseases are life-threatening or chronically debilitating diseases. Due to the low prevalence of each disease, medical experts are rare, knowledge is scarce, care offering inadequate, and research limited. Very few cures exist. While the diseases are rare, collectively they affect more than 60 million people in Europe and the US alone. Despite their great overall number, rare disease patients are the orphans of health systems, often denied diagnosis, treatment and the benefits of research.
To help raise awareness, the international Rare Disease Day campaign was initiated by the European Organisation for Rare Diseases (EURORDIS) in 2008, and since has been annually organised on the last day of February by EURORDIS, in conjunction with 25 rare disease national alliances, together representing over 1,000 patient groups.
This year’s focus is on health inequalities. "Most rare disease patients spend years wandering through the maze of health systems to find an accurate diagnosis. Many are fighting to obtain life-saving treatments or to be reimbursed by their health authorities. Others are denied access to specialised services and to disability compensation. They have further difficulties finding a job, getting into school, obtaining a loan or accessing life insurance," says EURORDIS’ Chief Executive Officer Yann Le Cam.
To further the objective of equal care for rare disease patients, EURORDIS is organising a one-day conference in Brussels in partnership with the European Commission, addressing the issue of health inequalities and discussing mitigating measures. Ms. Antonyia Parvanova, MEP and shadow rapporteur on the new EU Directive on Cross-Border HealthCare and Patient Mobility, will participate in the conference. The programme will spotlight examples of inequalities, such as the absence of widespread neonatal screening in Romania for phenylketonuria, a rare disease that is systematically screened for in most of Europe; the disparities in life expectancy for cystic fibrosis patients between European countries; the unequal access to new therapeutic approaches for rare cancer patients leading to variations in survival rates across Europe.
February 28th, 2011 will mark the fourth international Rare Disease Day coordinated by EURORDIS, together with rare disease national alliances and patient groups from more than 40 countries worldwide. Awareness-raising activities are being planned throughout Europe, USA, China, Japan, Colombia, Burkina Faso, Australia, India and many other countries across the globe.
More information about Rare Disease Day and the events planned in participating countries can be found at www.rarediseaseday.org
The European Union considers a disease as rare when it affects fewer than 1 in 2,000 citizens. 80% of rare diseases have a genetic origin. 5,000-7,000 rare diseases have been identified to date, affecting 30 million Europeans today.