What are rare diseases?
Rare and undiagnosed diseases are a global health priority recognised by the United Nations Resolution on Rare Diseases and the formation of the Global Network for Rare Diseases in December 2021: a partnership between the World Health Organisation and Rare Disease International.
Even though they are individually rare, collectively rare diseases are very common, affecting more than 300 million people worldwide. There are currently more than 8,000 identified rare diseases. Over 70% of rare diseases start in childhood, and 80% are genetic.
People living with rare or undiagnosed diseases face additional challenges compared to other chronic conditions. Rare diseases often have a long diagnostic journey and patients can see many specialists and receive multiple incorrect diagnoses before their rare disease is identified. Some people never receive a diagnosis.
Rare and undiagnosed diseases are often chronic, progressive, and frequently life-threatening. Patients receive inadequate clinical management, fragmented care and have a lack of treatment options. People living with a rare or undiagnosed disease often experience isolation, stigma, and discrimination.
Resources
GNNRD Roundtable Presentations
Key rare diseases websites
For patients and carers
The Global Nursing Network for Rare Diseases is for nurses and nursing students. For more information about rare and undiagnosed diseases for patients and carers please visit the links below, speak to your healthcare provider or contact your local patient advisory organisation.
