It has taken almost a decade for Elaine Knowles’ children to be officially diagnosed with a condition so rare that they are the only two in Australia.
Worldwide there are only six families who have children with the genetic condition TrappC9.
“Every family that they know of have got two children and one has three and they’re all in non-English speaking countries,” Mrs Knowles said.
She was a special guest at the official opening of Gateways Support Services’ new offices in Lava Street last week.
To celebrate the new location, an information session on the National Disability Insurance Scheme (NDIS) was also held.
“The NDIS sounds like it can be great, but it just depends on how great I am advocating for my children what they actually need,” Mrs Knowles said.
The NDIS comes to Warrnambool in October and her son Hugh, 11, will transition to the new funding scheme on the 15th while Lily will transition on December 15.
Lily was just 22 months old when Mrs Knowles took her to a paediatrician because she was not meeting her milestones.
“Lily is verbal, Hugh is non-verbal. Lily didn’t walk til she was three, Hugh didn’t walk til he was 4,” she said.
She said Hugh was now starting to say more words but he struggled to communicate his needs.
“A couple of weeks ago he was sitting in the bath tub bawling his eyes out,” she said.
“I got him out of the bath and he walked into the lounge room and picked up a drink bottle. He still cannot tell me when he wants a drink.
“It’s just heartbreaking.”
Mrs Knowles said while initial blood tests were taken when Hugh was 13 months old, they were not given the official diagnosis until March 8 this year.
“They both love to swing, they both love music, just love people and going for drives,” he said.
Mrs Knowles said Gateways had been providing her support for the past five years and helped her access funding and services for her children.
“Tania (Searle) is the best person for me to call if I’m having a bad day, to lift my spirits and to continue to fight for our children’s rights,” she said.