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About Rare Diseases

Rare diseases are diseases that affect a small percentage of a total population. According to the European Union rare diseases affect approximately not more than 1 out of every 2,000 individuals and in the USA a disease is considered rare when it affect fewer than 200,000 people (EURODIS, NIH). Though the definition varies from one geographical location to the other, generally, rare diseases represents health conditions that affect on the average 5-76 cases/100,000 people. There are about 7000 rare diseases recorded and new are regularly defined. About 80% being known to have a genetic cause and some due to bacterial or viral infections or other environmental causes and may be degenerative or proliferative. This notwithstanding, the exact cause of many of these diseases still remain unknown.

Rare diseases may be present at birth (Congenital) or occur during the lifetime of affected individual. About 50% of rare diseases are known to affect children. Symptoms of rare diseases are not always specific and are sometimes misunderstood by physicians. Rare diseases are characterised by a broad range of signs and symptoms that vary not only from disease to disease but also from patient to patient suffering from the same disease. As such one disease may present clinical signs similar to another. Non specificity of the signs and symptoms and the rare nature of the disease makes appropriate diagnosis very difficult. Lack of proper diagnosis or delayed diagnosis may eventually delay treatment if any available. Potentially this interferences with the social, physical and psychological aspects of the patient’s daily life, with a direct negative impact on patient’s family and caregivers.

Globally the exact prevalence of rare disease is not well known. However it has been estimated that 1 out of every 20 people may be affected by a rare disease at some point in their life. Gradually public awareness on rare disease is increasing in recent years with the effort undertaken by patients support groups in Europe and USA; with support groups like NORD being instrumental in the establishment of the orphan drug act. About 95% of rare diseases have not one single FDA approved drug treatment. The few approved treatments are not available to patients in low and middle income countries like Ghana. There are fewer specialists, researchers and centres who have shown interest and care for rare diseases. Health care professionals require training to improve diagnosis and treatment. Due to the limited public knowledge on rare diseases, there are negative socio-cultural beliefs about rare disease in Ghana like most African countries with increasing stigma (affected patients and families considered a curse or social misfits), worsen mental health and worsen the disease progression.

Ghana through the Rare Disease Ghana Initiative is in an excellent position to learn best practices from extensive international initiatives.