A rare disease is any uncommon disease with a very low prevalence rate. There are over 6,000 diseases identified as rare diseases worldwide. Most rare diseases are caused by genetic defects or mutation and are found during childhood or even early infancy. In most of the cases, they pose serious threat to a patient’s entire life with extreme disabilities affecting quality of life. Some of them are even degenerative and life-threatening.
The definition for rare diseases differs among different organisations and jurisdictions, as follows: less than 7 in every 10,000 in the US; less than 5 in every 10,000 in the European Union (EU); and less than 1 in every 10,000 in Taiwan.
Some commonly known rare diseases identified in Hong Kong include Mucopolysaccharidosis, Pompe Disease, Infantile Cutaneous and Articular Syndrome, Tuberous Sclerosis Complex, Myelofibrosis, Marfan Syndrome, Spinocerebellar Ataxia, Muscular Atrophy, Fabry Disease, Gaucher Disease, Achondroplasia, various forms of Osteochondrodysplasias, Inborn Errors of Metabolism and Mitochondrial Diseases . Most of the rare diseases are genetic in nature. In spite of a very few reported cases, rare diseases present a real threat to patients’ health, and bring heavy burden to their families.
Hong Kong has in place a world-renowned public health policy, and a healthcare system of high standard. However, we lag far behind in terms of prevention, diagnosis, treatment and protection of rare disease patients, as compared with many countries and places in Europe, US, and Asia. Government has not come up with a clear definition of rare diseases, or formulated related policies. The general public, including some healthcare professionals and social workers, have inadequate understanding and knowledge about rare diseases.