National Committee of Rare Diseases Cyprus
According to the European Union (EU) definition, a disease is considered rare when it affects 5 out of 10,000 people in the Community. It is estimated that approximately 37,000,000 Europeans have been affected by a rare disease while a total of 6,000 – 8,000 rare diseases have been recorded worldwide.
patients in Europe
patients in Cyprus
Why are rare diseases an issue?
In general, when we talk about rare diseases, we refer to rare-unusual and unknown clinical cases. It is difficult to suspect, recognize and confirm diagnostics. Furthermore, genetic diseases show great heterogeneity and are difficult to treat. In Cyprus, they have been recorded in increasing numbers over the last 20 years with them they are diagnosed mainly in the neonatal, infantile, childhood adolescence.
Some examples of rare diseases are:
Chromosome abnormalities
Genetic syndromes
Hereditary metabolic syndromes
Rare cancers
Childhood cancers
Rheumatic diseases
Autoimmune
Multisystem diseases of unknown etiology
Rare complications of common diseases
Rarely infectious
Diagnostic Odyssey
The journey/quest (for) a diagnosis of a rare condition is often referred to as a 'journey' or 'odyssey'. Often a large proportion of patients with a rare disease may take up to 5 years to receive the correct diagnosis, while often many have been misdiagnosed or even many never received, experiencing what we characterize as a 'diagnostic odyssey'.
There are many reasons why it can take years to reach a diagnosis. Due to the large number, variety and rarity of patients, there is great difficulty in recognizing symptoms and in diagnostic access (achieving). Also, scientific knowledge and research is limited and consequently exists lack of specialist health professionals dealing specifically with rare diseases. Also due to the low prevalence of these diseases, research in the field of rare diseases is sporadic and limited, and pharmaceutical companies display/ are reluctant to invest in pharmaceuticals or medical aids for them due to limited demand. So rare diseases and drugs for rare diseases are called orphans.
