Friday, September 9, 2011

African girl is the first black kid with aging disease

by Waldirene Biernath

image source : Notícias UOL
Ontlametse Phalatse is the first black child diagnosed with progeria, a rare and fatal genetic condition that accelerates the aging process, according to the Progeria Research Foundation. 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 small and delicate 12 year old girl calls herself "the first lady" and dreams of the future. "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 asked.

The foundation's executive director, Audrey Gordon, says there are several holes on the map 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.

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.

Ontlametse and her mother
Ontlametse's mother, Bellon Phalatse, says her baby was born looking normal but that she realized early on that something was wrong. The baby suffered constant rashes and by the time she was 3 months old Phalatse thought she had a skin disease. 

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." Bellon still tells that as the child aged prematurely, her father abandoned the family when Ontlametse was 3 years old.

Despite her frequent illnesses, Ontlametse enrolled in school at 6 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 AIDS. South Africa has the highest number of people living with AIDS of any country but the disease still carries a terrible social stigma.

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.

Children with progeria die almost exclusively from heart disease between the ages of 8 and 21, commonly suffering high blood pressure, strokes, angina, enlarged heart and heart failure.

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.

soared (noun): the act of rising upward into the air; (to) soar (verb): go or move upward "The stock market soared after the cease-fire was announced";
backgrounds (noun): the general situation in which something happens;
remarkably (adverb): in a way that is unusual and surprises or impresses you;
bald (adjective): with little or no hair on your head;
oversized (adjective): much larger than usual;
bulge (noun): a shape that curves outward on the surface of something, often made by something under it or inside it;
gnarled (adjective): old and twisted and covered in lines;
scorned (adjective):  treated with contempt;
cutting edge (noun):  the position of greatest advancement; the leading position in any movement or field.

Ontlametse Phalatse’s Photos:


No comments:

Post a Comment