Rare Disease Day!

 

February 29^th is Rare Disease Day, an annual event co-ordinated by EURORDIS at the international level and National Alliances of Patient Organisations at the national level.

The main purpose of the day is to highlight and raise awareness to the public and decision makers about rare diseases and their impact on patients’ lives

Rare Disease Day was first launched by EURORDIS and its councils of National Alliances in 2008.  With more than 1000 events taking place over the past four years, the publicity and media attention that has been generated, has enabled information to reach hundreds of thousands of people, including patients and patient representatives, as well as targeting policy makers, politicians, public authorities, researchers and anyone who is interested in rare diseases. 

The political momentum resulting from the day has also served for advocacy purposes and consequently has led to the advancements of national plans and policies for rare diseases in a number of countries where health inequalities may also be prevalent. 

What is a rare disease?

Information from the EURORDIS website describes a rare disease, also referred to as an orphan disease, as a disease which affects a small proportion of the population, that is less than 1 in 2000 citizens (Orphan Drug Regulation 141/2000). 

Most rare diseases are known to be genetic, chronic, degenerative, life threatening and where there is no existing effective cure.

It is estimated that there are between 6,000 and 8,000 rare diseases and each disease can be so broad and diverse that even symptoms and suffering levels for the same disease can vary from patient to patient.  In many cases, where symptoms are not always immediately evident, or where symptoms are common, can often lead to misdiagnosis and further pain.

For many rare diseases, there is often a lack of scientific and quality knowledge of the disease, which not only delays access to the appropriate diagnosis and medical procedures, but it is also detrimental for the patients’ health and wellbeing.    

The evidence shows that around 75% of rare diseases affect children and that 30% of rare disease patients die before the age of five.

Bring About Change

Advocates believe that by developing appropriate public health policies and implementing a comprehensive approach to rare disease, will help to eradicate many of the existing hurdles experienced by patients and their families.  Similarly by increasing international cooperation in scientific knowledge, and the sharing of knowledge of rare diseases, will subsequently lead to faster and new diagnosis as well as therapeutic procedures.      

Undeniably people with rare diseases often experience high level of pain and suffering, which impacts on their surrounding family and friends.  It is hoped that with worldwide growing interest in rare diseases and the need for further research and awareness, one of the objectives of the day is for WHO to recognise the last day of February as the official Rare Disease Day.  For further information on the events and the day please visit the official RareDiseaseDay website and the EURORDIS homepage