Megan Maack’s children Isla and Jude were just 2 and 4 years old when both were diagnosed with Sanfilippo syndrome, a rare neurodegenerative disease that causes dementia in childhood.
The devastating news was life changing for the whole family.
“It was a whole new world of navigating a fragmented health system, understanding disability and fighting for our children’s needs, all while processing the grief that comes with the diagnosis,” Maack tells Wire in an interview.
Childhood and dementia are two words you would not expect to go together, yet research shows that one in every 2,800 babies are born with a condition that causes childhood dementia, making it more common than cystic fibrosis.
“The simplest way to describe it is that it’s progressive brain damage,” says Maack. “It can manifest as a loss of cognitive function, where the child loses the ability to speak, communicate, read and eventually the ability to walk.”
The typical age of onset is between 2 and 4 years old, and tragically, the median life expectancy of a child living with one of these disorders is just 9 years old.
Since receiving the news of Isla and Jude’s diagnosis, Maack has dedicated her life to deepening medical research into the condition and raising awareness. In 2022, she was named a Westpac Social Change Fellow for her work as CEO and director of the Childhood Dementia Initiative.
When Maack founded the Sanfilippo Children’s Foundation in 2013, which marked its 10th anniversary this week, she soon realised that a broad range of conditions presented very similar challenges and symptoms, and led to the same neurodegeneration that affected her own children.
That realisation was the genesis of the Childhood Dementia Initiative, which Maack started three years ago with the aim of unifying efforts to tackle the 70-plus conditions that can cause childhood dementia.
While childhood dementia has been researched since the 1940s, Maack says it was hard to quantify how big the problem was, and in turn allocate resource efficiently to tackling it.
“There was an opportunity here to be more efficient in how we perform research, and to be able to better articulate the collective needs of this community when it comes to care and policy.”
It’s important that families dealing with childhood dementia know that they are not alone, and have places to turn to for support, Maack says.
“The typical family journey includes a period of noticing changes in their child, being concerned about their child’s development, and not being listened to.
“You become the project managers of coordinating your child’s care, booking appointments and finding doctors, without being offered support or counselling.”
Typically, families will need to liaise with speech therapists, occupational therapists, behavioural therapists, neurologists, GPs, or paediatricians, and often walk away without answers.
“We look at the coordinated care for other paediatric conditions such as cancer, who we know have great support, a consistent model of care, and greater coordination,” Maack says.
“It’s the benchmark – we know that it is possible and it’s what kids with dementia need too.”
This Childhood Dementia Day, Maack says the priority is spreading awareness.
“How can we solve a problem that nobody knows exists? We need people to understand that this is a real problem affecting so many families, and has a death rate similar to cancer in children.”
The Childhood Dementia Initiative is already working with international groups and policy makers in Australia, as well as adult dementia organisations to extend their work to children in order to provide treatments and cures, equitable access to quality care, and to make childhood dementia a priority.
A critical piece of their work is their Family Advocates Network, funded by the St.George Foundation.
“We developed this program to bring together over 70 families who have walked the path and understand their needs.”
“It’s validation that we’re on to something, and means families don’t have to suffer in silence any longer.”
While Maack says that the initial motivation for her work was to channel her own grief into positive action, she quickly saw there was a big opportunity to enact change.
“We faced the most unimaginable diagnosis, and to think that our children would live these short, painful lives and nothing would change – it’s even more tragic.”
“If we can do anything to improve life for other families in the future, then that’s what we need to do.”