98% of rare diseases estimated to go undiagnosed in SA — advocacy group

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Owing to healthcare constraints, up to 98% of congenital and rare diseases go underdiagnosed in South Africa. City Press reports that this is according to Kelly du Plessis, CEO of not-for-profit advocacy organisation Rare Diseases SA (RDSA), who said that according to estimates based on global prevalence there are about 3m people living with rare conditions in South Africa.

“RDSA has less than 1% of the patient population on our database. Underdiagnosis is a critical issue as we do not have enough local capacity in terms of referring for genetic services. We know, according to established studies, that congenital disorders are being underreported by 98%, and we estimate the same across the rare disease space,” she said.

Plus, the report says, the costs to treat rare and congenital diseases are often insurmountable, both locally and internationally. Du Plessis said that most families are forced to go the fundraising route as many treatments for rare diseases are not registered in the country and are only funded as an exception by medical schemes.

“The treatments are frightfully expensive owing to low yield of research and development costs. For a mainstream drug, you have millions of customers to recoup the costs of research and development, whereas in rare diseases you sometimes will only ever have a patient pool of a few hundred patients globally, which drives up the cost. Also, these treatments are generally not curative and are required lifelong, so it’s really a big long-term cost,” Du Plessis explained.

She added that her organisation had had some success in advocating for patients under its register and on medical aid to access treatment, but sadly not so much in the public sector as the landscape is more complex and health systems are generally failing.

“Our government has not yet realised that rare diseases are a threat. There was a time once when both cancer and HIV were rare diseases, look how they expanded. It’s the same with genetic conditions; if we are not doing more to prevent, raise awareness and educate patients, they may very well be our next pandemic.”

City Press report

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