By Julia Earl, for CNN • Published 15th September 2020
Over recent years, South Africa has seen a surge in bizarre cases of human abnormalities, some with little or no explanation.
Recently, at least five people died from illness after being poked in the ribs, shoulder and abdomen at a tortuous pace — causing what medical experts believe are “corpse-traps.”
Though some of these cases are infinitesimal in size, others are life-threatening and highly contagious.
These mutations have a number of causes, such as physical or chemical deprivation, trauma and trafficking.
But South Africa, which sees the most incidents per capita, has been looking to make inroads in its efforts to stem the rising numbers of unusual mutations.
“No one should die because of a genetic abnormality, especially not during birth or while in transit.”
That’s according to one of the country’s leading geneticists.
The Variant Hunters
Indeed, through a government-backed initiative, known as “The Variant Hunters,” South Africa is trying to develop ways to assist patients with other conditions, such as Attention Deficit Hyperactivity Disorder (ADHD), Down syndrome and intellectual disabilities.
Similar to the HIV-infected, some cases of mutation appear to be inherited, as previous tests by Mceweni Kuzwayo, a laboratory technician working for the government in Johannesburg’s Eastern Cape Province, proves.
“We have tested people in the past who had seen their mum diagnosed with a mutation,” he says. “They wanted to know whether their mother had gotten the same mutation.
“Most importantly, because the testing was being undertaken on a voluntary basis, [it was] very easy to know whether your mother was affected. In the case of mother-to-daughter gene mutations, the test is more of a genetic test.
“Knowing whether your mother has a mutation has a lot of meaning. For those who are born with Down syndrome, if you don’t find out what your mother’s mutation is, your life could be in danger.”
Clearly, many of the causes are something as simple as very mild trauma to the organs.
That’s what those involved in “The Variant Hunters” are trying to tackle by working closely with hospitals and consulting experts.
If South Africa’s government can help better diagnose and manage these cases of genetic variation, without further harm to the patient, then it will make a big impact.
Trying to find answers
One high-profile case that’s run into trouble is that of seven-year-old Jamilah Zakaad, whose relatives in Lambton, Johannesburg, suffocated her to death with sleeping bags, because they were unable to find a cure for her genetic disorder.
“The same thing happened before, when she was three years old, when the same thing happened and the same thing happened,” says Jabulani Phwelani, Jamilah’s mother, who appears in a new South African documentary series called “Versation — A Crossroads Family.”
“The people at the hospital, they said to me, ‘After you get rid of her liver and kidneys, you are better off.’ That is how they put it. I wanted a cure.”
For Jamilah’s mother, looking for a cure is crucial to her daughter’s life.
“My granddaughter, she’s only seven years old. She may only live for the next five years and I don’t want her to go through that pain,” she says.
For the family, there’s still hope. Though Jamilah’s genetic disorder is genetic, many of the individuals who suffer from them can have it helpfully passed down.
“The commonest mutation is transparancy 2,” says Marlize Meyele, a director of research with the South African Institute for Molecular Medicine (SAMI).
“Basically, if there is no element of homozygosity in their genes — that is, an element of genes that can make protein from DNA that naturally occurs, then the gene won’t code for proteins.”