Progeria: the ageing disease

By Gardy Chacha

Progeria is an extremely rare genetic disease of childhood characterised by dramatic, premature ageing. The condition, which derives its name from “geras”, the Greek word for old age, is estimated to affect one in every four million newborns worldwide.

The most severe form of the disease is Hutchinson-Gilford Progeria Syndrome, so called after Dr Jonathan Hutchinson, who described the disease in 1886, and Dr Hastings Gilford who contributed to its understanding in 1904.

As newborns, children with progeria usually appear normal. However, within a year, their growth rate slows down and soon appear stunted, weighing much less than others their age.

While possessing normal intelligence, affected children develop a distinctive appearance characterised by baldness, aged-looking skin, ‘visible’ blood vessels, and a small face and jaw relative to head size.

Symptoms

They also often suffer from symptoms typically seen in much older people; including stiffness of joints, hip dislocations and severe, progressive cardiovascular disease.

However, various other features associated with the normal ageing process, such as cataracts and osteoarthritis, are not seen in children with progeria.

American Lindsay Ratcliffe is a young girl suffering from the disease. At nine kilogrammes and 36 inches, she is not an ordinary six-year-old. She has this rare and fatal disease whose name is derived from the Greek word that means “prematurely old”, which makes her body age eight.

So far, only 68 children in the world currently have the condition, according to the progeria research foundation. the scraggly and lurid thing about progeria is that affected children are likely to die at an average age of 13 years.

According to her birth records, Lindsay showed no signs of progeria at her time of birth.

“The first thing I did, I counted her fingers and toes. I was like, ‘ten fingers, ten toes, we’re good,’” recalled her father, Joe Ratcliffe, during an interview with journalists.

After four months, Lindsay had gained little weight and her parents knew something was seriously wrong.

Progeria is said to be as a result of a mutation in a gene called LMNA, though there’s no evidence that it is hereditary.

Genetic test

 “Children with progeria occur out of blue. There’s no family history, no warning, no reason to think that this might be getting ready to happen,” said Dr Francis Collins, the scientist who first discovered the gene and is now the director of the National Institute of Health.

At the time of Lindsay’s diagnosis, there was no known treatment for progeria and no cure, leaving the Ratcliffes to care for their beloved baby, whom they knew they would lose soon.

Talking to ABC’s Barbara Walters, Kristy her mother said, “In the beginning it was a lot harder because Lindsay couldn’t talk, she couldn’t walk and she couldn’t do everything for herself. Now it’s so easy because you see her and you smile. You can’t help it.”

A genetic test for Hutchinson-Gilford progeria syndrome, also called HGPS, is currently available. In the past, doctors had to base a diagnosis of progeria solely on physical symptoms, such as skin changes and a failure to gain weight, that were not fully apparent until a child’s first or second year of life. The disease affects children of all races.

Additional information from the Internet