Rare Disease Day is the globally coordinated movement on rare diseases, working towards equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with a rare disease. Since its creation in 2008, Rare Disease Day has played a critical part in building an international rare disease community that is multi-disease, global, and perse – but united in purpose. Rare Disease Day is observed every year on 28 February, the rarest day of the year.
A disease is rare when it affects fewer than 1 in 2,000 people. Currently, there are 300 million people with rare diseases, which represents 5 % of the worldwide population.
Over 6000 rare diseases are characterized by a broad persity 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. The patient’s 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.
What are the universal challenges faced by those living with a rare disease?
- The lack of scientific knowledge and quality information on the disease often results in a delay in diagnosis.
- 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.
- Owing to the broad persity 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.
- Research needs to be international to ensure that experts, researchers, and clinicians are connected.
Source: Rare Disease Day
