‘More help needed’ in handling rare diseases in SA
THE statistics might not all be in for rare diseases and the South Africans who suffer from them, but stakeholders in the health sector have agreed that the problem is much bigger than it looks.
They range from albinism, which is a common feature and affects a number of people in black communities, to xeroderma pigmentosum, which affects only a handful of the population.
Earlier this week The Mercury reported on little Boiketso Magana, 5, who suffers severe burns, even from minimal exposure to the sun, to her young skin, and whose pigmentation is freckle-like.
This has confined the little girl from Bela Bela, north of Pretoria, to the life of a young recluse. Boiketso has been limited to going outdoors only at night to avoid the sun.
The youngster, who has been diagnosed with xeroderma pigmentosum, has to wear special clothing and have ointment applied every two hours.
With the World Health Organisation estimating that approximately 33 000 people could suffer from all manner of rare disorders in the country, local health practitioners agreed that efforts to manage the diagnosis and treatment of symptoms had to improve.
At least 50% of people with rare diseases were children, while the rest developed them later in life. The diseases posed social, emotional and other problems, said genetics specialist Kenneth Thomas.
He added that when picked up in children, they threw entire families into crisis mode and left them scrambling for information and answers.
“It is no better in adults, because they have lived part of their lives without any noticeable problems.”
Thomas and his colleagues run a biotechnology laboratory in Johannesburg, and offer testing and diagnostic services. They also offer assistance in linking families with organisations that offer assistance to new rare-disease patients.
He said: “The support and opportunity to identify with others in the same situation is the next biggest step after diagnosis.”
Atteridgeville social worker Katlego Maubane said there was not enough support from the public health sector in handling rare diseases.
Social workers were left to sooth and assure: “Most patients do not survive after being turned away from hospitals who don’t know how to help.”
But the national Department of Health explained yesterday that its focus was on diseases that affected the majority of the population.
“This is how public health functions the world over,” said spokesman Popo Maja.