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
