RARE DISEASES DAY 2018
The World Rare Disease Day marked the first time an event has been organized in Ghana to support rare diseases.
The event, dubbed #RareShowcase, was put together by Rare Disease Ghana Initiative, which has the mission to improve the quality of life of families affected by rare diseases in Ghana through advocacy, awareness creation, research, patient support and partnership.
The event commenced with social media awareness, which started on February 26. Hundreds of people shared posts on rare diseases via their social media accounts with the tag #ShowYourRare, #RareShowcase2018, and #RareDiseaseDay2018 to show their support.
On the February 27, as the founder and coordinator of the Rare Disease Ghana Initiative, I gave a talk to a team of researchers lead by Prof. Mate-Kole at the Department of Psychiatry of Korle-Bu Teaching Hospital at the department’s weekly research meetings.
In my presentation, I explained that a rare disease is defined as one that affects a very small number of people in a population. Per the international definition, it affects 1 in 25000 people. About 350 million people are reported to be affected with about 7000 rare diseases identified globally and more being discovered.
I noted that about 80 percent of rare diseases are genetically inherited and thus are present throughout an individual’s life even when symptoms do not immediately appear and approximately 50 percent of people affected are children. Though individually rare, collectively rare diseases pose a huge public health burden on the country and the families they affect. This is why the scientific community and government need to pay attention to rare diseases.
The burden of having a rare disease in Ghana and Africa at large may be worse due to some socio-cultural issues that impact on healthcare delivery in the sub-region. The high prevalence of HIV/AIDS and malaria also creates access issues for people affected by rare diseases. This is why they need support.
During our event, I encouraged the team of researchers to show interest in investigating rare diseases and assist in finding answers to the questions associated with living with rare diseases, especially in Ghana and Africa. The researchers showed their support and solidarity with families and people living with rare diseases in Ghana and across the world, as well as the Rare Disease Ghana Initiative by taking some pictures to support the day.
On February 28, a team from Rare Disease Ghana Initiative joined Ghana International School in their event organized by the school to show support and love towards the son one of their formal tutors who had been diagnosed with WAGR Syndrome. WAGR syndrome, also known as WAGR complex, Wilms tumor-aniridia syndrome, and aniridia-Wilms tumor syndrome, is a rare genetic syndrome in which affected children are predisposed to develop Wilms tumor (a tumor of the kidney), aniridia (absence of the colored part of the eye, the iris), genitourinary anomalies, and intellectual disability.
The students engaged in face painting and hand painting to support this day. They also watched a short documentary about WAGR Syndrome. After, there was a drone captured image of love created by the students, teachers and the team from Rare Disease Ghana Initiative.
Overall, the rare disease day event, though it was a first, was successful! We enjoyed every aspect of the event and we know that this will go a long way to instill some hope in individuals and families battling with rare or undiagnosed conditions in Ghana.
Samuel Agyei Wiafe
Founder/Coordinator at Rare Disease Ghana Initiative