A twelve year old girl in South Africa is the first black child who has been diagnosed with Progeria. Previously, most, if not all, of the children who have been born with this rare disease were white. There are some physical similarities that exist in all children who have Progeria.
Ontlametse Phalatse, a twelve year old girl who was born in South Africa, is the first black child to have been born with the rare disease called Progeria. She has been calling herself “the first lady”, in part because no one knows of any other black children who have ever had Progeria.
Progeria is a rare, and fatal, genetic condition that quickly accelerates the aging process. It is also called Hutchinson- Gilford Progeria Syndrome, or HGPS. The word “progeria” is one that is derived from the Greek word that means “prematurely old”.
The 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 prematurely age.
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 oversized 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.
Ontlametse’s mother, Bellon Phalatse, says that her daughter was born “looking normal”. It quickly became apparent that something was wrong. Her daughter suffered from “constant rashes”. When Ontalametse was three months old, her mother thought that she might have a skin disease.
Next, her hair fell out, and her nails looked unusual. This happened before she turned one years old. When she was old enough to attend school, she was shunned by both classmates and teachers because people thought that the reason why she was small, skinny, and different looking was 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. It all became clear. Ontalametse is now getting the treatment that she needs, and is participating in a research study in the United States that is funded by the Progeria Research Foundation at Children’s Hospital in Boston.
Image by Simon Pielow on Flickr