New childhood disorder going undiagnosed
Doctors say a little-known genetic condition could have gone undiagnosed in thousands of Australian boys.
The heartbroken parents of a three-year-old who has the disorder known as MECP2 Duplication Syndrome, are fighting to find a cure.
At 15-months-old, Van Wright was diagnosed with the genetic condition caused by a faulty gene resulting in an intellectual disability.
Van can't walk or talk and almost half of those with the condition will not live beyond 25.
"I just can't believe there could be something like this. It's just such a cruel disorder," his mother, Collene, told Seven News.
Because MECP2 Duplication Syndrome is such a newly-discovered condition, doctors believe many young boys may have gone undiagnosed or misdiagnosed with other conditions like autism or cerebral palsy.
Genetic testing for the disorder became more accessible three years ago and now doctors expect to hear of more boys who have the condition.
"Increased diagnosis will ultimately help research the disorder," one doctor says.
"But it also gives us some optimism that we can better understand the disorder.
"The ultimate aim obviously is to find more specific and targeted treatments for conditions such as this."
Van's father Phil started the Van Wright Foundation and are committed to finding a cure.
"It's just the beginning of something that's quite terrible, and coming to terms with that is very difficult," said Mr Wright.
"Because if we don't, Van doesn't have a future. So that's what we do."
