A little boy from Cheam has been diagnosed with a condition so rare that, since its discovery in 1965, fewer than 25 cases have been recorded worldwide.
Alfie Mumford, four, suffers from the complex Gillespie syndrome, characterised by partial aniridia, meaning that part of his iris is missing and his pupils won’t dilate, and ataxia, or motor and coordination problems.
The syndrome is a rare genetic disorder, first described by American ophthalmologist Frederick Gillespie.
Alfie’s mother Lauren, 34, said: “We only really noticed there was something wrong when he was about 18 months old, and his pupils wouldn’t dilate.
“We had to see so many doctors, because this condition is so rare that none of them knew what it was.
“He’s had several tests and the information was sent to a professor in Scotland, who knew this syndrome.”
Alfie, who goes to school, needs a walking frame and a wheelchair when he leaves the house, because the condition has affected his mobility.
He is currently undergoing physiotherapy and speech therapy, and leads a happy life alongside his mother, sister Amy, 10, and father Elliott, 33.
Mrs Mumford said: “He’s just a happy-go-lucky little boy who does not really let anything affect him.”
Although Gillespie syndrome may also lead to intellectual disability, according to Mrs Mumford, this is not Alfie’s case.
“He’s a very clever little boy and there’s nothing to show yet that his mental ability has been affected,” she said.
Because so little is known about the condition, Alfie’s future is unknown.
Mrs Mumford said: “There’s no way of knowing how his life is going to be from now on, but he’ll keep doing his treatment and going to school and hopefully we’ll find out more about the syndrome.”
The family is now trying to raise awareness about the condition.
Mrs Mumford said: “We would like people to learn more about Gillespie syndrome so other children who suffer from it can be diagnosed.”
• What do you think? Let us know by email here, phone the newsdesk on 020 8330 9555 or leave a comment below.
Your Local Guardian © Copyright 2001-2009