Coming to terms with the fact her daughter was the first in Australia diagnosed with a rare gene mutation “came in waves” for Meg Salisbury.
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The Splitters Creek mum and husband, Matt, found out in February the cause for three-year-old Ginger’s developmental delays was a syndrome called KAT6A.
“When she was born, she was flown down to the Royal Children’s Hospital and we were told everything was OK,” she said.
“I started going to the paediatrician and he referred us to a geneticist.
“(The diagnosis) only happened through him reading an American publication about KAT6A and he said, ‘I think that sounds like Ginger’.
“They looked at that particular gene and found there was a mutation.”
To find this mutation, Ginger’s entire 25,000-odd genes were analysed through whole exome sequencing in conjunction with a study done by the Murdoch Childrens Research Institute.
The Salisburys will join the institute next Thursday leading up to a meeting with Premier Daniel Andrews.
“They’re doing a media doorstop to announce the results from the first genomics study Ginger was apart of,” Mrs Salisbury said.
“I hope the government puts whole exome sequencing under Medicare to be accessed by all.
“There’s children out there who don’t have a diagnosis.”
On Tuesday, Trinity Anglican College raised more than $1,000 for their cause through a blue dress-up day, inspired by Ginger’s favourite colour.
Student representative council leader Shaylah House, 17, said the fundraiser was organised as Ginger’s sister, Scarlet, was in year 8.
“It’s pretty confronting – we’re complaining about the little things in life,” she said.
“Today is as much about raising awareness as it is about raising money.”
Mrs Salisbury said Ginger had been walking for a year and was non-verbal – of the 42 children diagnosed with KAT6A worldwide, their development varied.
“There’s one who’s 28 and one who’s 30 – they have intellectual disabilities and some have heart, digestion and vision issues,” she said.
“When Ginger was diagnosed, her geneticist said ‘She’s going to have a lot of trouble going to mainstream school, getting a job, and living independently’.
“He also said to me, ‘Let Ginger amaze us’, and that’s what we intend to do.”
