On the 28th of February, 2019, Rare Disease Ghana Initiative in collaboration with West African Genetic Medicine Centre with Support from Sickle Cell Disease Genomics Network of Africa (SickleGenAfrica) organised a symposium on Genomics and Rare Diseases in honor of Rare Disease Day 2019. The event which was held at the Obstetrics and Gynaecology Auditorium attracted high level audience including Heads of Departments in the hospital as well as other clinicians, researchers, nurses, students, patiences with their caregivers and the general public.
This symposium was gracefully moderated by Emily Sheldon, Director of Health Innovations, Impact Hub Accra. Having suffered from a rare disease herself and experiencing challenges with regards to misdiagnosis, and finally being diagnosed after 7 years, she also shared how her journey has been and expressed her joy with regards to the inception of the initiative and the achievements so far.
Keynote address was delivered by Professor Solomon Ofori-Acquah, Dean, School of Biomedical and Allied Health Science, University of Ghana and also the lead investigator for SickleGenAfrica. He touched on the importance of creating awareness and being a voice for rare diseases in Ghana and also touched on the important work SickleGenAfrica is doing now with regards to Sickle Cell Disease in Ghana. He also highlighted that a grant has been won to establish the West African Genetics Medicine Center which seeks to provide training in Genetics across the West African Region.
Mr. Samuel Agyei Wiafe, Founder and Executive Director, Rare Disease Ghana Initiative also spoke at length on developing a working and long lasting Rare Disease Program in Ghana. He took the opportunity to introduce Rare Disease Ghana Initiative to the participants. He stated that the organisation aims to develop, seek wide endorsement and advocate for the implementation of a plan to support research, education, service development, promote awareness and increase support for affected individuals and their caregivers. In addition, he also shared some achievements of the organisation and highlighted on some upcoming projects aimed at improving the lives of people living rare diseases in Ghana.
Professor Ebenezer Badoe, a paediatric neurologist and Head of Department of Child Health, Korle-Bu Teaching Hospital also presented some cases of rare diseases he has encountered during his practice in the hospital and the need for early diagnosis and appropriate treatment of rare diseases.
Dr. Emmanuel Ameyaw, a pediatric endocrinologist at Department of Pediatrics, Komfo Anokye Teaching Hospital. As the first pediatric endocrinologist in Ghana, he presented on some rare disease cases he has seen at the Komfo Anokye Teaching Hospital. He highlighted on the low knowledge of rare diseases among healthcare professionals and affirmed the challenge of misdiagnosis of rare diseases.
Dr. Dorothy Kemevor-Asimah, a specialist in the Obstetrics and Gynaecology Department of the Korle-Bu Teaching and a beneficiary of the NIH training program on Human Genetics and Genomics also spoke at length about the need for a noninvasive perinatal and newborn screening program for congenital and rare diseases in Ghana. She also shared information on a pilot surveillance program for congenital anomalies currently taking place at the Korle-Bu Teaching Hospital.
Dr. Abena Tannor, a rehabilitation specialist at the Department of Family Medicine, Komfo Anokye Teaching Hospital also spoke on rehabilitation for rare and congenital diseases. She reiterated the importance of infusing schooling of these kids with rehabilitation to help in the holistic growth and development.
Mrs. Charlotte Nebbah Myers, a Clinical Psychologist at Lekma Hospital also touched on the need to look into mental and psychosocial issues affecting individuals with rare diseases and the family as a whole.
Miss Debbie Mangortey, an advocate for Down Syndrome in Ghana also shared her experience bringing up a child who lives with Down Syndrome and some of the challenges she has encountered during the period. She spoke about the stigma and the stress she had to endure due to limited support for genetic disorders in Ghana. She recommended measures she thought could help in take the situation better for others in her shoes.
Dr. Todor Arsov, Department of Immunology and Infectious Diseases, Australia National University also shared his experiences from the Australian Genetics and Rare Disease landscape and admonished Ghanaians to pay particular attention to rare diseases.
Dr. David Nana Adjei Coordinator, SickleGenAfrica and spoke about an ongoing sickle cell screening project which seeks to identify genetic biomarkers associated with the development of organ damage, with special on body’s defence against molecules released from damaged red blood cells that cause tissue injury. He emphasised on how this project is aiding to tackle the sickle cell related issues in Africa and the progress they have made so far. He highlighted that so far, the project has helped to screen more than 500,000 babies for sickle cell disease.
Amanda Budge and Farouk Iliasu who are Founder/Executive Director and Programme Director for Multikids Africa respectively, highlighting on the need for an inclusive educational program for children living with rare diseases and disabilities.
All in all, the program was a success and we hope that this will continue and improve annually. We acknowledge all our speakers, sponsors and attendees. We acknowledge the presence of other advocacy organisations such as The Rheumatology Initiative and Sickle Life Foundation.