Friday, June 9, 2023

‘You mean there’s nothing?’ The families fighting for their children with dementia

In many ways, Ronin and Ethan are typical young boys. They love Hot Wheels toy cars, Shaun the Sheep, rude noises and pizza nights. Nine-year-old Ethan dotes on the family pets. Ronin, seven, is always booting a soccer ball around the back yard. “They’re two absolutely lovable friendly kids, very affectionate and can be very loving when they’re happy and when things are going their way,” their mother, Teresa Lloyd, says.

But Ronin and Ethan have dementia. When Ethan was two or three, his parents noticed his speech wasn’t developing properly. Now, at nine, he has the language skills of a toddler. He’s still walking unaided but this, Lloyd expects, will not last. He has no sense of personal safety and will dart out in front of a car without any awareness of the danger. He needs help with activities such as dressing and eating, the latter which requires constant supervision in case he doesn’t swallow properly and chokes.

Ethan Lloyd, aged nine, has the language skills of a toddler. Photograph: Mike Bowers/The Guardian
Ronin Lloyd, aged seven.
Ronin Lloyd, aged seven. Photograph: Mike Bowers/The Guardian

Ronin, for now, is not showing obvious signs of his development slowing.

Dementia is term that conjures images of elderly people in aged care, unable to recognise family or friends, lost in a fog of confusion and disorientation. It does not evoke pictures of young children bursting with energy and joy and life.

But childhood dementia takes more young lives each year in Australia than childhood cancer. It affects one in 2,800 children, and around 2,300 young Australians are currently living with childhood dementia. Three-quarters of them will die before their 18th birthday.

Childhood dementia is caused by any one of around 70 rare genetic diseases. Most people will have never heard of them – Tay-Sachs disease, Sanfilippo syndrome, Farber’s disease, Rett syndrome and juvenile Parkinson’s disease, to name a few – and each is characterised by a different inherited genetic mutation. But what unites them is the gradual degradation they cause in young brains – and the lack of treatments or cures.

“The line that I hear every Sanfilippo family say is that they tell you ‘There’s nothing we can do, there’s no cure; just go home and love your boys’,” Lloyd says. This is what Teresa and husband, Steven, were told when Ethan was diagnosed. Their immediate response was utter shock, then distress. “You mean there’s nothing? There’s absolutely no treatment?” she recalls saying. They became determined to fight as hard as they could for their boys.

Teresa Lloyd says she and her husband were shocked and distressed when their first son was diagnosed with Sanfilippo syndrome.
Teresa Lloyd says she and her husband were shocked and distressed when their first son was diagnosed with Sanfilippo syndrome. Photograph: Mike Bowers/The Guardian

‘Why are we not grouping them together?’

Megan Maack is director and CEO of the Childhood Dementia Initiative, an organisation she set up in 2020 when she realised how many of these rare genetic diseases led to the same neurodegeneration that affected her two children, who had been diagnosed with Sanfilippo syndrome.

“I knew a lot of families who had conditions – either Sanfilippo, or other conditions that cause dementia in kids – and I could see we all had the same challenges, we all had the same needs,” Maack says. “I started to think, why are we not grouping them together like we do with other conditions like childhood cancer?”

As soon as the Childhood Dementia Initiative grouped these conditions, the devastation of childhood dementia became clear. “I think everybody was quite surprised at how, as a collective group, the impact was significant,” Maack says. “It’s more common than cystic fibrosis.”

Adult dementia itself is also an umbrella term for a range of neurodegenerative diseases. The neuroscientist Prof Kim Hemsley says it makes sense to group these diseases in children under one overarching term. “They lead to dementia, so we need to start talking about them in a way that everyone understands what they are [and] the tragic consequences of them,” says Hemsley, who leads the Childhood Dementia Research Group at the Flinders Health and Medical Research Institute in Adelaide. “Hopefully that leads to momentum and real change for these families.”

It can also help researchers working on treatments and cures for the otherwise rare genetic diseases that leading to childhood dementia, many of whom are working in isolation around the world. Hemsley is one of a growing number of researchers trying to understand the mechanisms behind the neurodegeneration of childhood dementia.

Each underlying genetic disease affects a different aspect of brain function, but there are some patterns. For example, the largest group of diseases are lysosomal storage disorders. Lysosomes are the waste disposal units inside cells, containing enzymes that break down cellular waste into nutrients and resources that can then be reused by the cell. If a mutation compromises the function of those enzymes – as occurs in diseases such as Tay-Sachs disease and mucopolysaccharidosis – it can lead to a build-up of waste materials inside the cells of the brain, which eventually becomes toxic to the cell.

Other forms of childhood dementia result from mutations affecting the function of the mitochondria – structures within the cell that generate the energy it needs to function – or altering production of key neuronal proteins, as occurs in juvenile Huntington’s disease. Others affect inflammation or the production of amino acids. Some are still not well understood.

Searching for support

This general lack of understanding extends to support services. When parents need to explain to disability services why their child still needs a support worker or occupational therapist or a wheelchair, using the term “childhood dementia” can make that process a little easier. But there’s still a huge gap in both understanding and provision of services that recognise the unique needs of this group of children.

“When you’re trying to get services or trying to make people understand the impact of it, you will end up having to say all the terrible things that come with it in order to justify the support,” Vanita Connery says.

Connery is a mother of three, two of whom are affected by childhood dementia. Her oldest son, Jordan, died last year aged 18. Her youngest daughter, Olivia, has Rett syndrome. The two diseases have different genetic causes, but Connery found it useful having a single phrase to describe the effects of both. “People will understand what that means and I don’t have to use a lot of terms to get them there,” she says.

There are particular challenges when it comes to respite for parents and, at the end stages, palliative care for their children. When Jordan’s condition worsened, Connery sought help from a facility that cares for children with life-limiting illnesses.

“He ran around and bashed into the glass doors and we said, ‘Well, he is dying,’” she recalls. “And they said, ‘Yeah, but we can’t cope with him.’” Paediatric palliative care was well set up for children with cancer, but less so for a child with a degenerative neurological disease, whose body was still functional, growing and extremely active.

Ronin Lloyd with his mum, Teresa, at home.
Ronin Lloyd with his mum, Teresa, at home. Photograph: Mike Bowers/The Guardian

Teresa and Steven Lloyd have also experienced obstacles when trying to get respite care for their two boys. They need a break sometimes from the 24-hour supervision that they have to provide, while also trying to work and juggle life’s other demands. “If we use the word respite, the NDIA go, ‘No, that’s parental responsibility, it’s your child, you need to look after him,’” Teresa says.

Hope on the horizon?

The federal government is putting together its 10-year National Dementia Action Plan. For the first time, the consultation report explicitly acknowledges children with dementia but, Maack says, it is light on details about actions to improve care and outcomes for children and their families.

She is calling for an increase in data collection on childhood dementia, which is currently not included in national dementia data sets, and more funding for research into the condition. “We looked at the funding from the government between 2019 and 2021, and there was 20 times more funding that went into cancer than childhood dementia, but the same amount of children die,” she says.

The child neurologist Prof Michelle Farrar says there needs to be better and earlier diagnosis of childhood dementia to spare parents the often years-long rollercoaster of trying to get answers. “It’s about expediting diagnosis to make it timely so they’re not having an experience of seeing multiple professionals over many years without a diagnosis,” says Farrar, professor of paediatric neurology at the University of New South Wales.

Ethan and his parents experienced this frustrating journey for years. First he was diagnosed with global development delay, then another specialist suggested autism, another one diagnosed intellectual disability, and finally a paediatrician did a couple of tests that showed he had Sanfilippo syndrome.

“You go and see somebody and again, you’ve got to wait, you’ve got to get a referral, [then] that wasn’t necessarily their field and then it’d be like, ‘I don’t know what it is’,” Steven Lloyd says. “And then you’d start again.”

Ethan Lloyd was diagnosed with a number of conditions before he was finally found to have Sanfilippo syndrome.
Ethan Lloyd was diagnosed with a number of conditions before he was finally found to have Sanfilippo syndrome. Photograph: Mike Bowers/The Guardian

While there are almost no treatments available for childhood dementia, some are approaching the stage of human clinical trials. Two strategies showing the most promise involve gene replacement – in which the faulty gene is replaced with a functional one – and enzyme replacement, in which children receive doses of the missing enzymes. One such therapy is being developed in Australia by researchers from the South Australian Health and Medical Research Institute, Adelaide’s Women’s and Children’s hospital and the University of Adelaide. Researchers, including Hemsley, are working on a treatment approach that involves cultivating stem cells from affected children, engineering them to replace the faulty gene, then reintroducing those stem cells back into the child.

Hemsley and her colleagues are also engaged in a needle-in-a-haystack hunt for existing treatments for other diseases that might also influence the disease processes in childhood dementia. “You’re already a long way down the track if you can use a drug where its safety profile is known and the dosing is known,” she says.

For now, the Lloyd parents are entirely focused on making life as normal and wonderful as possible for Ethan and Ronin visiting their grandparents, holidaying in Queensland.

“As a parent, you have to have that in the back of your mind that this is a journey that ends,” Steven says. He has to pause, and breaks down. The grief and pain are clear. That is a future, Teresa says, they try not to think about too much.

“It is more about the here and now and how are we helping the boys now,” she says. “What can we do?”

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