DUBAI // For many mothers, the sight of their permanently smiling and laughing child should bring a similar smile to their face.
Yet for Rachel Kettle, her daughter Leah’s cheerful demeanour is a reminder that she suffers from the lifelong rare genetic Angelman syndrome.
A side-effect of the chromosome disorder, which causes severe learning difficulties, means that sufferers are left almost permanently laughing or smiling.
“Even when someone falls down or is crying, she finds it funny – she is in fits of giggles,” said Ms Kettle, a 42-year-old Briton.
The syndrome – originally called Happy Puppet Syndrome because of the characteristic happy demeanour and stiff or jerky movements of sufferers – was renamed Angelman syndrome in 1982.
“Like Down syndrome, there is a facial feature,” said Ms Kettle. “Many have a wide smile and features like that.”
Leah started having seizures at four months old and, by the age of one, could not sit up.
Initially diagnosed with cerebral palsy, geneticists finally diagnosed her with Angelman syndrome when she was two.
It was a relief, said Ms Kettle.
“I thought I was going absolutely mad because I had severe postnatal depression,” she said. “But the diagnosis made sense – because she is an angel.
“And when she got a diagnosis, it made it easier knowing what you are dealing with.”
At the age of 16, Leah, who has a seven-year-old brother, has the mental age of a toddler.
She sleeps in her parents’ room and cannot talk, with significant learning disabilities.
Ms Kettle would love for people to not judge her daughter at first glance.
“You get used to the looks and the stares,” she said. “People judge too quickly.
“You just want someone to smile rather than stare. You always want acceptance.
“There is still a lack of awareness in many countries, especially in the UAE.”
According to the National Organisation for Rare Diseases, the prevalence of Angelman syndrome is estimated to be about 1 in 12,000 to 20,000 people.
Source: uae news