Support families living with Rare and Undiagnosed Diseases in Ghana

Rare diseases represent a wide and varied group of illnesses characterized by their low prevalence among the population. Though their prevalence is low, collectively they exert a public health burden on the society of their manifestation, and total number of people they affect. More than 7000 rare diseases have been identified globally. Though each individual rare disease has a low prevalence rate, they collectively affect 350 million people worldwide. Approximately 50% of people affected by Rare Diseases are children; rare diseases are responsible for 35% of deaths in the first year of life; 30% of children with rare disease will not live to see their 5th birthday. Many rare disease patients experience many barriers in access to healthcare, and fewer than 5% receive disease-specific treatment.
Delayed diagnosis has significant impact on the family of the patient. It causes anxiety, frustration and stress, and also worsens symptoms or disease progression. Receiving diagnosis of a rare disease is a life-changing event for many families, and most require support. Access to psychological support and genetic counselling is required for all parents receiving diagnoses for their children.
Countries in Africa, such as Ghana, remain the most vulnerable. Due to global issues such as poverty, hunger and financial instability, healthcare problems exist across the country. The high presences of communicable diseases such as HIV/AIDS, Tuberculosis as well as the presence of Malaria further create access issues for those diagnosed and affected by rare conditions, as funds and resources are limited. There is also currently no Rare Disease registry in Ghana and Africa, which underreports the current statistics and data in terms of the contribution of rare diseases to the under 5 mortality rate.
Though some few studies have highlighted their existence, little is known about the occurrence of rare diseases in Ghana. As a result, families do not get the needed support. Patients and caregivers face many obstacles throughout their lives. Among these are the lack of scientific knowledge about their condition mainly due to the paucity of research within the area; delayed and/or wrong diagnosis; lack of appropriate multidisciplinary health care; lack of quality information and support during the time of diagnosis; difficulties in access to treatment, rehabilitation and care; dissatisfaction and loss of confidence in medical and social services, and many more. In Ghana, these problems mentioned above are worsened by some socio-cultural beliefs people have towards these conditions and the families who experience them. Due to issues such as socio-economic, cultural, developmental problems and inadequate resources, there is a need for a united front in order to ensure that rare diseases are not left behind in the healthcare system.