Pretoria - The statistics might not say so, but health experts agree that the problem of rare diseases is much bigger than it looks.
These conditions range from albinism, which is a common disorder and affects a number of people in black communities, to xeroderma pigmentosum which affects only a handful of the population.
Earlier this week the Pretoria News reported on one sufferer, little Boikoketso Magana, five, who sustains severe burns even from minimal sun exposure to her young skin, and freckle-like pigmentation covers her entire tiny body.
This has confined the little girl from Bela Bela to the life of a young recluse.
With the World Health Organisation (WHO) estimating that approximately 33 000 people could suffer from the inconclusive number of rare disorders that present themselves in all manner of diseases in the country, local health practitioners agreed that efforts to manage the diagnosis and treatment of symptoms had to improve.
“There is very little awareness about so many of the disorders in our communities, with many across urban and rural communities and middle and upper class families struggling to understand what has hit them when the very often long hidden conditions show up,” genetics specialist Kenneth Thomas said.
At least 50 percent of people with rare diseases are children. The other half which develop later on in life pose social, emotional and other problems, he said.
“It is no better in adults because they have lived part of their lives without any noticeable problems.” Thomas said.
He and his colleagues run a biotechnology laboratory in Joburg. They offer testing and diagnostic services and also assistance in linking families up with organisations which offer help in whatever form to newly established rare disease patients.
He said: “The support and opportunity to identify with others in the same situation is the next big step after diagnosis.”
It helped people pull out of he initial phases of denial and blame, and the realisation that they might be unable to deal with what was being presented to them.
There was no awareness about the conditions, of which there are about 8 000 across the world, and many more believed to be undiagnosed due to technology restrictions and lack of reporting to authority bodies.
“In South Africa, like many other countries, medical centres and doctors run short on proper diagnosing and offering treatment or even advice for people with rare diseases,” Atteridgeville social worker Katlego Maubane said.
She has seen at least seven children born with mystery diseases in the past 10 years while working in communities west of the city. She said there was not enough information, or even support from the public health sector in handling rare diseases.
Social workers and community care workers were left to placate and assure patients.
“Most do not survive after being turned away from hospitals who do not know how to help. There needs to be on-the-ground assistance that is accessible to the less privileged of our country, because they are most affected,” Maubane added.
But the national Department of Health on Wednesday said that its focus was on diseases that affected the majority of the population.
“This is how public health functions the world over,” spokesman Popo Maja said.
Government facilities had professionals who could diagnose and provide enough initial information on what an affliction entailed, and then they linked patients and their families up with organisations with more resources at hand, he said.
“We work closely with non-governmental organisations and other bodies, and we assist them in sourcing funds to further their work,” he said.
MOST RARE DISEASES
* aren’t treatable
* can be managed
* 80 percent of them are genetic
* 50 percent of those affected are children
* 30 percent of whom do not live to see their 5th birthday
Rare diseases are responsible for 35 percent of deaths within first year of life
Pretoria News