Out of only about 80 children around the world diagnosed with Progeria, a rare aging disease that makes the body age rapidly, is South African Ontlametse Phalatse.
She is The first black child with this premature aging disease which has a life time expectancy of 13 years. This means she was not expected to live beyond the age of 13.
The small girl with a big personality who calls herself a first lady because she’s the first black child with this disease just turned 17 this month.
Children with progeria also called Hutchinson-Gilford Progeria Syndrome, or HGPS are born looking healthy, but soon display characteristics of accelerated aging, such as failure to grow, stiff joints and loss of body fat and hair.
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 three 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.’
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 AIDS.
It wasn’t until the girl was 12 years old that she learned that she had Progeria. A doctor suspected it, and gave her a book that had photographs of other children who have the disease.
This rare aging disease is caused by a mutation in a specific gene that is called LMNA. This gene contains a protein called the Lamin A protein. It is this protein that makes the nucleus of a cell hold together.
Kids who are born with the mutated form of LMNA lack this protein, which leads to cellular instability. It is believed that this is what causes kids with Progeria to age prematurely.
Most, if not all, of the children who have been born with this rare and fatal genetic condition are white. There are some physical similarities that exist in all children who have Progeria.
Kids who have Progeria look very similar to one another. These children are small in stature. Although they may not start out bald, they tend to lose their hair at an extremely early age. Other symptoms include over sized heads, eyes that bulge, and hands that are gnarled (sometimes due to arthritis).
Their skin is thinning, which means that you can easily see the network of blue veins through the skin of white children who have Progeria.
In general, children who have Progeria tend to die when they are around 13 years old. Frequently, the cause of death is atherosclerosis, which is also called heart disease. Some kids who have Progeria will die when they are as young as 8 years old, or could potentially live to see their 21st birthday.