'Rare Disorders Without Borders' is this year's theme for World Rare Disease Day 2013 which takes place on 28th February. The very first Rare Disease Day was held on February 29th 2008.The main goal being to raise awareness with policy makers and the public.
The original date was chosen because 2008 was a leap year and so 29th February was indeed a rare day. Also on that day it was the 25th anniversary of the passing of the Orphan Drug Act in America. All over the US events took place and also an open session of the European Parliament was held specifically dedicated to discussing policy issues related to rare disorders. Since then the last day of February has been set aside to raise awareness all over the world for families affected by rare disorders and improve access to treatment for all individuals affected.
The main objective of Rare Disease Day is to raise awareness among the general public and decision-makers about rare diseases and their impact on patients’ lives.
The campaign targets primarily the general public but it is also designed for patients and patient representatives, as well as politicians, public authorities, policy-makers, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases.
Since Rare Disease Day was first launched by EURORDIS and its Council of National Alliances in 2008, more than 1000 events have taken place throughout the world reaching hundreds of thousands of people and resulting in a great deal of media coverage.
The political momentum resulting from the Day has also served for advocacy purposes. It has notably contributed to the advancement of national plans and policies for rare diseases in a number of countries.
Even though the campaign started as a European event, it has progressively become a world event, with the US joining in 2009 and patient organizations in 63 other countries participating in 2012. We hope many more will join in 2013. Our objective is for the WHO to recognize the last day of February as the official Rare Disease Day.
A rare disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000. A rare disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time.
One rare disease may affect only a handful of patients in the EU (European Union), and another touch as many as 245,000. In the EU, as many as 30 million people alone may be affected by one of the 6000 to 8000 rare diseases existing.
• 80% of rare diseases have identified genetic origins while others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative.
• 50% of rare diseases touch children.
Characteristics of rare diseases
The 6000 to 8000 rare diseases are characterized by a broad diversity of disorders and symptoms that vary not only from disease to disease but also from patient to patient suffering from the same disease.
Relatively common symptoms can hide underlying rare diseases leading to misdiagnosis and delaying treatment. Quintessentially disabling, the patients’ quality of life is affected by the lack or loss of autonomy due to the chronic, progressive, degenerative, and frequently life-threatening aspects of the disease.
The fact that there are often no existing effective cures adds to the high level of pain and suffering endured by patients and their families.
Common problems faced
The lack of scientific knowledge and quality information on the disease often results in a delay in diagnosis. Also the need for appropriate quality health care engenders inequalities and difficulties in access to treatment and care. This often results in heavy social and financial burdens on patients.
Due to the broad diversity of disorders and relatively common symptoms which can hide underlying rare diseases, initial misdiagnosis is common. In addition symptoms differ not only from disease to disease, but also from patient to patient suffering from the same disease.
How can things change?
Although rare disease patients and their families face many challenges, enormous progress is being made every day.
The ongoing implementation of a better comprehensive approach to rare diseases has led to the development of appropriate public health policies. Important gains continue to be made with the increase of international cooperation in the field of clinical and scientific research as well as the sharing of scientific knowledge about all rare diseases, not only the most “recurrent” ones. Both of these advances have led to the development of new diagnostic and therapeutic procedures.
This year's theme emphasizes the need for international cooperation. Click here for more information on rare diseases.
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