The elfin child with the big personality and bright smile calls herself “the first lady” and dreams of the future.
But doctors say 12-year-old Ontlametse Phalatse has only, perhaps, another couple of years to live.
“I call myself a first lady because I’m the first black child with this disease … Which other black child do you know with this disease?” she challenged.
Ontlametse is the first black child diagnosed with progeria, a rare and fatal genetic condition that accelerates the aging process, the Progeria Research Foundation said.
Nobody knows how many kids in the world have it. In a two-year campaign to identify them, the Progeria Research Foundation says the number of children diagnosed around the world has soared from 48 to 80 on five continents.
The foundation’s executive director, Audrey Gordon, says only two Africans have been diagnosed and both live in South Africa — Ontlametse and a five-year-old white girl. That is probably because South Africa offers some of the best medical care on the continent.
Gordon says there are several black holes on the map in her office studded with coloured tacks where they have found children living with progeria. “We know that there are children [with progeria] in Africa, in China and Russia, but we just can’t seem to get to them,” she said in a telephone interview from the foundation’s office in Peabody, Massachusetts.
Ontlametse’s mother, Bellon Phalatse, says her baby was born looking normal but that she realised early on that something was wrong. The baby suffered constant rashes and by the time she was three-months-old Phalatse thought she had a skin disease.
‘Going up and down to the doctors’
Before Ontlametse celebrated her first birthday “her hair was falling, her nails weren’t normal, the skin problems, we were going up and down to the doctors”.
As the child aged prematurely, her father abandoned the family when Ontlametse was three-years-old.
Despite her frequent illnesses, Ontlametse enrolled in school at six and proved a bright pupil. But she was often scorned by classmates, teachers and others who thought she was so small and skinny because she had HIV/Aids. South Africa has the highest number of people living with Aids of any country but the syndrome still carries a terrible social stigma.
“It was horrible, I don’t know how to explain” what we went through, Phalatse said.
It was not until two years ago that a doctor friend suggested she have Ontlametse tested for progeria, and brought her a book about the disease.
It included pictures. Children with progeria look remarkably similar, despite different ethnic backgrounds: small and bald with oversized heads, eyes that bulge a bit, gnarled hands. They suffer from thinning skin which has a network of blue veins showing on the heads of white children.
Phalatse said she knew immediately, and a doctor confirmed the diagnosis.
“I’m very happy now that I understand what causes progeria,” Phalatse said.
Specialised care
The diagnosis came with the news that most children with the disease die at 13. But it also brought a better understanding of what they can do to try to prolong Ontlametse’s life, and it has brought her the specialised care she needs.
Each school holiday, Ontlametse and her mom fly to the United States, where she participates in research funded by the Progeria Research Foundation at Children’s Hospital Boston. It gives her access to cutting edge drugs that are not yet commercially available.
Back home, they struggle to feed her the required healthy diet. Phalatse is unemployed and the two survive on her daughter’s government disability allowance.
Ontlametse is unfazed: “Sometimes when my mommy has money, she buys lettuce and cucumbers and I help her do salad.”
At school, Ontlametse keeps her hat on her head, self-conscious of her bald head. One of the things on her wish list is a specially designed wig.
She has two friends in her class but says not all her classmates are kind, but it doesn’t bother her.
“I don’t care what people say about me,” she says, making a throwaway motion with a hand misshapen with arthritis, knobby fingers and discolored nails.
In her rundown brick home in the small town of Hebron about 80km north of Johannesburg, Ontlametse ditches the hat. She does her homework, reading, watches TV and has daily chores like washing her socks and cleaning her shoes. She can’t play sports or even a game of hopscotch because physical exercise tires her out.
Asked what she would like to be, she breaks into a big grin that shows irregular teeth.
“I would like to be a psychologist,” she says, “so that I can work on the problems of other people and so that they can accept the way that they are because they can see that I accept the way I am”.
That she would live that long would require a miracle. Children with progeria die almost exclusively from heart disease between the ages of eight and 21, commonly suffering high blood pressure, strokes, angina, enlarged heart and heart failure.
Gordon said research into progeria has had remarkable success since her family founded the foundation in 1999, after her nephew was diagnosed with the disease.
In 2003, the foundation was instrumental in the discovery of the progeria gene. Now they hope it can help provide answers about the ordinary aging process and cardiovascular disease. – Sapa-AP