The young girl went downstairs with her mother one day and a man — a total stranger to the mum — greeted the girl by name.
“Hi, Ella,” said the man.
Ella’s mum was not surprised because her daughter, nine, suffers from a rare disorder called Williams Syndrome (WS), a congenital development disorder characterised by, among other things, an excessively social personality.
Ella’s condition went undetected for about two years, until a doctor treating her for a heart condition raised the suspicion.
A blood test confirmed it.
Ella’s mother, Madam Janet Yeo, 38, a civil servant, said: “When we heard about it, we were lost. We had not heard of this genetic disease before.”
In conjunction with the worldwide Rare Disease Day 2014, the Rare Disorders Society (Singapore) and Club Rainbow (Singapore) held a symposium recently called “I Care for Rare”.
Specialist doctors shared insights on rare diseases, how to identify them and the tests that are available. It was held at Furama City Centre Hotel.