By Ann Marie Angebrandt
A HOPPERS Crossing mother is overjoyed that her young daughter’s disability may be reversible.
The genetic condition, Rett Syndrome, has left about 10,000 Australian children — mainly girls — unable to walk or talk, and with a slim chance they will live to be an adult.
“I’m very excited that down the road she could be a normal child,” said Jodie Patterson of her three-year-old daughter Jemma, who has the autistic-like disorder.
Star highlighted Jemma’s condition last November as part of “Angel Week”, during which funds are raised for Rett Syndrome research.
The breakthrough experiments, conducted in Scotland, showed symptoms disappeared in mice after the faulty gene responsible for Rett Syndrome, MECP2, was replaced with a fully functional version.
Ms Patterson said she would gladly offer Jemma to be a “guinea pig” for future research with humans.
“Whatever it takes to give Jemma a chance, I’m more than willing to do,” she said.
Scientists caution that it is a long way from mice to humans, but the discovery is still the most important development in treating the disease since it was given a name in the early 1980s.
“I’m not thinking of this as an automatic miracle cure because it could be five or 10 years down the track before the news can help us,” said Ms Patterson.
The family is now celebrating the recent medical announcement with their network of families around Australia, who also have a child with the disorder.
“We’re all a little bit excited to say the least,” she said.
Ms Patterson said she first knew something was seriously wrong with Jemma soon after she was born.
But it was a neurologist at the Royal Children’s Hospital who finally recognised her as a “silent angel” when she was about a year old.
The name is given to sufferers of the condition because they have unusually bright eyes, beautiful smiles, and seem to understand more than they can express.
The Patterson family – including husband Darren, and other daughters Chloe,7 and Chelsea, 5 – raised $2000 during Angel Week by selling angel ornaments, keyrings, pins and wrist bands.
“This is inspirational news for us and for all the other families who have girls like Jemma,” she said.
The results of the research will be published in the journal Science this month.
