Accra Dec. 03, GNA – Dr. Charles Hammond, a Pediatric Neurologist at the Komfo Anokye Teaching Hospital, has appealed to government for support to reduce misdiagnosis of rare diseases among children.
Rare disease, also referred to as an orphan disease, is any disease that affects a small percentage of the population.
It includes sickle cell, cerebral palsy, autism, epilepsy, hydrocephalus, hemophilia (inability of blood to clot), thalasemmia (absence of adequate haemoglobin), spinal muscular dystrophies, and sickle cell.
He made the appeal at an African Summit on Rare Diseases in Accra, organised by the Rare Disease Ghana Initiative (RDGI) to discuss the hindrances to the health and social growth of persons living with rare diseases in Africa and develop recommendations for improvement.
The three-day summit, which began on Wednesday December 01, is on the theme: Achieving Universal Health through Equity”.
Participants of the summit include persons living with rare diseases, their caretakers, and other stakeholders within the rare diseases space from 15 African countries, including Ghana, Lesotho, Botswana, Ivory Coast, Mali, Kenya, Nigeria, Mozambique, and Rwanda.
The challenge so far with controlling the condition among young people, he said, included misdiagnosis as a result of inadequate specialists, and the less than five neurological centres nationwide, which made most of the diagnosis, suspected cases, and high cost of seeking true diagnosis.
Apart from misdiagnosis, neurologists also have mismanagement challenges rising from uncertain diagnostics and others such as lack of genetic counselors, diagnostic closure, and cultural, traditional and religious beliefs attaching non-medical meanings to condition.
Others are difficulty in dietary modification, non-availability of genetic therapies, and non-availability of enzyme replacement.
Dr. Hammond, who said “rare diseases are not so rare” among Ghanaian children, as they seemed, admonished government to make efforts to increase expertise in the area, and enroll free screening programmes onto the national health insurance scheme.
He also entreated Government to enhance access to investigations into the conditions, such as neuro-imaging, electrophysiology and genetic testing and support stakeholders to improve advocacy in the area.
Mr Samuel Wiafe, the Executive Director, RDGI, said people with rare diseases needed their concerns addressed with equity in all spheres, including how buildings were designed.
He reiterated the need for Government to make technology available for the diagnosis and management of rare diseases and support to cater for the costs.
Mr Wiafe said rare disease care was expensive, however, there was an aspect that was free, such as “showing love, care and attention,” and cautioned against stigmatisation.
“I entreat communities to show an act of kindness, concern and love and let’s all try to make a world that is very inclusive and does not segregate on the basis of disease, for example. I believe that all of us will not be happy that we have a condition and because of the condition, we are treated as unworthy.
“For the fathers who run away from home leaving their children with special condition with the mothers, I will say they are just cowards. I rather congratulate those who stay behind to support in taking care of the children,” he said.
The Executive Director said participants at the end of the summit would develop a ‘Regional Action Plan’ to improve awareness on rare diseases, and come out with recommendations for governments of participating countries to consider.
According to the Rare Disease International, there are 7,000 rare diseases that affect more than 300 million people worldwide.
In an interview with one of the parents with children living with rare diseases, who pleaded to speak on anonymity, she said: “The disease started with my son being unable to walk, it affected his legs and the second child too who is a girl had same problem. So because of that I was hesitating to give birth to another child. It took a long time before I gave birth, I was scared.”
Source: Ghana News Agency