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ABOUT RARE DISEASES

Rare Diseases reflect a group of conditions with low prevalence, often accompanies the individual from birth and cause cause functional or structural abnormalities. Rare diseases represents health conditions that affect on the average 5-76 cases/100,000 people (Richter et al, 2015) .

Though individually the prevalence of rare diseases are low, Collectively they pose huge public health burden to the people affected and the country.  

There are more than 7000 rare diseases. 80% of rare diseases are genetic in origin, and thus are present throughout a person’s life, even if symptoms do not immediately appear.

 More than 300 million people are affected by rare diseases globally. 1 in 10 people or 10% of the population may be affected by a rare disease at some point in their lives. We estimate that close to 3 million Ghanaians may be affected. 

Approximately 50% of the people affected by rare diseases are children and 30% of children with rare disease die before their 5th birthday.

Since the 1950s, Congenital anomalies (which are mostly rare diseases) have been one of the major causes of disabilities and deaths in Ghana. Congenital anomalies are the 13th leading cause of death in Ghana 

It takes on the average 4-8 years and on average, trips to eight doctors for diagnosis to be made. Many rare disease patients still remain undiagnosed while a large number are misdiagnosed. 

Delayed diagnosis has significant impact on the family of the patient. It causes anxiety, frustration and stress, and also worsens symptoms or disease progression.

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. Recently the FDA in Ghana has adopted a new guideline for the registration on Orphan Drugs in Ghana (click here to download the FDA guideline) 

There is currently no registry for a single rare disease in Ghana, which under reports the current statistics and data.

There are fewer specialists, researchers and centers who have shown interest and care for rare diseases. Training Institutions pay little attention to rare diseases during the training of health professionals in Ghana. Health care professionals require training to improve diagnosis and subsequent management. 

There exist negative socio-cultural and superstitious beliefs about rare disease in Ghana like most african countries which increase stigma and worsen the  mental health of the family.There is evidence that caregivers and patients living with  rare diseases reports low quality of life and poor mental health. 

There is a need to increase awareness, research and support for rare diseases.