Call for more research into childhood dementia, a disease that kills almost as many children as cancer

When Adelaide’s mother, Rene Stasca, found out that her youngest son had a rare genetic disorder, she decided to test her other two children for peace of mind.

“I thought I’d just do a blood test for them, and get it over with. [so I can] He stopped worrying and then they both came back positive with him too.”

Her three children, Hudson, 7, Holly, 6, and Austin, 4, have been diagnosed with Niemann-Pick type C disease, one of more than 70 diseases under the childhood dementia umbrella.

“She is no longer just a mother of three – she is now a mother of three terminally ill children,” Ms Stasca said.

Mrs. Stasca’s pregnancies with Hudson and Holly were considered low-risk; However, when she was 28 weeks pregnant in Austin, a growth examination revealed ascites – an accumulation of fluid in the abdomen.

“I had this examination and they told me this is not compatible with life, you have to go to the Women and Children’s Hospital tomorrow,” Ms Stasca said.

“It was absolutely shocking because I was naturally pregnant otherwise.”

smiling little girl
Six-year-old daughter of Renee Stasca Holly. (ABC News: Che Chorley)

Fluid was monitored with weekly scans, which showed improvement, and agitated at week 38.

“It was pretty much perfect,” said Ms. Stasca. “He still had an enlarged liver and spleen, so we went through the care of the gastroenterology team in the women’s and children’s department.”

“From there, keep plodding around, getting better and better.

“He was eight months old when the doctor said ‘It took a little longer than I expected for his liver to get back to normal function – I’m just going to run some genetic plates.

According to the Australian Niemann-Pick Type C Disease Foundation, the disease causes cholesterol and other fatty acids to build up in the cells of the body affecting the brain and other organs, resulting in progressive intellectual decline, loss of motor skills, seizures, and dementia.

Stasca said no other members of her family had this extremely rare condition, and at the time of their diagnosis, her children were not showing any signs or symptoms.

“You look at your kids and they’re happy and they’re doing whatever they’re supposed to do… It’s just a mismatch and it’s really hard to understand,” she said.

A child sitting on his mother's lap.  They are sitting on the ground, behind a toy train track
More than 2,000 Australian children suffer from childhood dementia. (ABC News: Che Chorley)

Diagnosis is accelerating at an astonishing rate

The State of Childhood Dementia 2022 report released this month states that around 90 children die in Australia each year from childhood dementia, a similar number to deaths from childhood cancer.

Despite the high mortality rate, dementia in children has received 20 times less government funding than research, said Professor John Christodoulou, director of the topic of genetic research at the Murdoch Children’s Research Institute in Melbourne.

It affects about 2,000 children in Australia, but the federal government has allocated just $3 million to fund the research this year.

Professor Christodoulou said: “Childhood dementia diagnoses in Australia are accelerating at an astonishing rate, yet we find that there are only 14 clinical trials currently active in Australia covering only nine of the more than 70 disorders of dementia in children.”

He said childhood dementia badly needs more recognition and more research funding, which will lead to a better understanding of the disorders that cause it and, in turn, better treatments.

“With increased recognition comes the increased ability to make a diagnosis earlier,” he said.

“The second thing that is needed is better support for families who are caring for children with a truly devastating disorder.”

A woman in a blue jacket smiling in a dimly lit room
Renee Stasca says more recognition and funding for childhood dementia will give affected families more hope for the future. (ABC News: Che Chorley)

Most children with dementia only live into their late teen years.

For Renee Stasca, creating lifelong memories for her children is her priority.

“I think it’s really important to tell families that this isn’t the end just because you’ve had this diagnosis,” she said.

“You still have all these years, all these memories to make up and you need to hold on to hope already.”

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