Brisbane mum Jill O’Grady was continuously brushed off by doctors before her son was diagnosed with a form of dementia at six years old.
Her son Rory, now 10, was lagging behind other kids at school, took longer to learn to write his name and had a speech delay.
But when she and her husband spoke to medical professionals, they were told their son would simply “catch up”.
“We’d seen multiple doctors with concerns about Rory’s development and our concerns were somewhat dismissed as he was just a typical boy,” Ms O’Grady told ABC’s 7.30 report.
“[I] was even given the advice that I should see a psychologist myself because I was ‘fixated’.”
A urine test at six years old, three years after he first showed symptoms, later provided answers.
Her son suffers from Sanfilippo Syndrome, one of over 70 conditions that make up childhood dementia.
Like adult dementia, the condition, which has no known cure, causes a decline in brain function and loss of memory.
The average life expectancy in children is nine years old.
Speaking about his son’s condition, Mr O’Grady said: “What might take a neurotypical kid a week to learn would take Rory months.”
“Learning not just numbers, letters, learning things like getting your shirt on the right way round. I don’t think he’s put his shirt on the right way round ever.”
Rory’s seven-year-old sister, Anna, has also been diagnosed with Sanfilippo. However, her symptoms are less pronounced than her brother’s.
“I’m quite confident that if I hadn’t randomly stumbled upon it on Google we still wouldn’t have a diagnosis for Rory and certainly not Anna, she’s been diagnosed because Rory was,” Ms O’Grady told the program.
The couple also have another child who does not have the condition.
Dr Nick Smith from Adelaide’s Women’s and Children’s Hospital told 7.30 childhood dementia conditions occur in about 1 in 2,800 live births, making it as common as the genetic disorder cystic fibrosis.
However, he said there is a significant lack of awareness, explaining “many colleagues within the health system are unaware that childhood dementia exists”.
“It’s not uncommon for us to hear, certainly among the lay public, but indeed among the wider healthcare workforce, statements such as, well, dementia is an adult problem … Well, clearly that’s not the case,” he said.
“We need to listen to parents.”
Sydney mum Megan Maack, whose two children, 12 and 14, have also been diagnosed with Sanfilippo, is pushing the federal government to include childhood dementia in the National Dementia Action Plan.
“We would like to see children recognised as a priority population in the plan,” Ms Maack, who set up the Sanfilippo Children’s Foundation and the Childhood Dementia Initiative told the program.
“We’d like to see children included in the national data sets that track and monitor people with dementia, we’d like to see children with dementia considered in all services.”
A spokesperson for the federal government told 7.30 childhood dementia would be a part of the plan.
In the meantime, Ms and Mr O’Grady said they “try not to think about the future”, taking things day by day.
“We live for now, and for now they’re here and they’re happy so we make sure we get the most out of every day.”