people with rare diseases
of the population
are genetic diseases
Over 6000 rare diseases are characterised 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.
72% of the diseases are genetic and almost 1 out of 5 cancers is rare.
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.
Rare Disease Day raises awareness for the 300 million people living with rare disease around the world and their families and carers.
The long-term cause of the Rare Disease Day campaign is to achieve equitable access to diagnosis, treatment, health and social care and social opportunity for people affected by a rare disease.
Important progress continues to be made with joint international advocacy efforts for universal health coverage (UHC), part the United Nation’s Sustainable Development Goals (SGDs) to advocate for equitable health systems that meet the needs of people affected by rare diseases in order to leave no one behind.
Rare Disease Day is the opportunity to advocate for rare diseases as a human rights priority at local, national and international level as we work towards a more inclusive society.
Rare Disease Day is a great example of how progress continues to be made, with events being held worldwide each year. Beginning in 2008, when events took place in just 18 countries, Rare Disease Day has taken place every year since, with events being held in over 100 countries in 2019.
My 5-year-old daughter, Angelina, is living with CASK-gene related disorders – more precisely, she is living with an X-linked intellectual disability, microcephaly with pontine and… Continue reading Angelina’s storyRead full story