Cape Town - Rare Disease Day, observed on the last day of February annually, aims to raise awareness on the not-so-rare occurrence of rare diseases and the many ways in which to improve the lives of those affected.
Rare Disease Day yesterday shone a spotlight on the more than 300 million people affected globally, and about 4 million people in South Africa.
The head of Tygerberg Hospital’s medical genetics, Stellenbosch University’s medical genetics associate professor and head of the Rare Disease Genomics research group, Professor Shahida Moosa, said there were 7 000 to 8 000 different rare diseases.
Although individually rare, these affect a considerable proportion of the population, 6% to 8% or one in 15 people in the world.
Some of the rare diseases common in South Africa are albinism and achondroplasia dwarfism, with Mabry syndrome common in the Western and Eastern Cape.
“The situation is quite dismal in South Africa, but we are hopeful that this will change,” Moosa said, speaking of diagnosis and treatment.
“About 80% of rare diseases have a genetic origin which means that if we use the latest in genetic and genomic testing, we have the possibility of diagnosing these people and giving them a definitive diagnosis.
“The problem is that there isn’t wide adoption of genetic and genomic testing. There hasn’t been buy-in from our health ministry for our hospitals across the board to support funding for genetic testing and genomic testing.”
Moosa said the country had medical genetic services in only 2.5 of the provinces: Gauteng, Western Cape, and one individual in Durban.
Rare Diseases South Africa marketing and communications manager Missy Hayes said the diagnosing of rare disease in South Africa was costly and resources were limited.
“There is a lack of capacity in both the public and private sectors to recognise and test for rare diseases. Treatment for rare diseases is available, but treatment is extremely expensive and some medications are not available in South Africa,” Hayes said.