Looking back now, Sydney mum Niki Markou can spot the signs that something wasn’t quite right with her 14-year-old daughter Angelina.
But it wasn’t until the bubbly and popular teen had her first seizure in her mother’s arms that the family realised the full extent of the tragedy before them.
Before that distressing day in 2018, there were a handful of vague clues that Angelina’s health was deteriorating, but at the time, her family “didn’t think anything of it”.
A trial at an after-school job left her so exhausted she had to stay home from school the next day, and soon after her grandfather passed away she collapsed at school, which her family put down to stress and grief.
Then she began dropping glasses while setting the dining table, and falling over while walking the family dog, prompting Ms Markou to make an appointment with a neurologist.
But before the appointment arrived, Angelina had her first terrifying seizure at the family home.
“She started having a seizure in my arms … I was screaming and crying and I thought she was dying,” Ms Markou told news.com.au.
“I had never seen a seizure before in my life and it was terrifying. I didn’t know if she would come back.”
Angelina was rushed to hospital and was initially misdiagnosed with epilepsy, but after nine months it was clear that her medication was not working and that her seizures were getting worse.
“They were escalating in frequency and getting out of control and she was having trouble keeping up at school,” Ms Markou explained.
A lengthy hospital stay followed along with extensive genetic testing, which finally confirmed Angelina’s “shocking” diagnosis of Lafora Disease, which is one of the 70 types of childhood dementia.
“I was in disbelief, and I still can’t get my head around it,” Ms Markou said.
Childhood dementia is an umbrella term given to a group of rare, inherited and terminal neurodegenerative disorders, with most children with the condition dying before adulthood.
While it affects one in 2800 children and is more common than conditions such as cystic fibrosis, there are effective treatments for less than 5 per cent of the many types of childhood dementia and it remains almost unknown to the wider public.
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‘ALL BEEN TAKEN AWAY’
Before her first major seizure, Angelina was “perfectly healthy”, sociable and thriving at school and was able to recite three-minute monologues during her beloved drama lessons.
But just over two years later, life has changed completely for her and her family.
Now aged 16 and a half, Angelina can no longer attend school and is virtually housebound.
“She can’t read or write properly, and one sentence that would take us 10 seconds to read will take her five minutes,” Ms Markou said.
“It will depend on the seizures but sometimes she can’t even hold a pen. She’s back to a kindergarten level again.
“And it has impacted her a lot socially – she’s very tired all the time, she finds anything overwhelming and she’s housebound.”
The condition also causes behavioural issues at times, which makes it almost impossible for the family to carry out regular errands like visiting the shops let alone attend social activities outside the home.
“She wants to have a boyfriend, and that has been really upsetting. It’s very disheartening at that age – she just wants to hang out with friends, but she can’t do any of that,” she said.
“It has all been taken away – she’s very ambitious and independent still and she wants to do everything herself.
“She is determined to fight, which is a good thing.”
The diagnosis has been devastating for Angelina and Niki and for the entire family, including Angelina’s older sister and three step-siblings who have struggled to cope with their sister’s condition.
Ms Markou is sharing her story to raise awareness of the little-known condition, and to push for better funding for research and assistance for families.
One area the brave mum would like to change is the delay in genetic testing, with Ms Markou claiming Angelina’s original misdiagnosis allowed her condition to worsen without appropriate treatment for months on end.
“Horrible conditions like this are shocking for families and they change your world … money is needed for research, and if we find solutions for childhood dementia it will help older generations too – it opens so many doors,” she said.
“I wouldn’t wish this on anyone, and we need more research and more help to find a cure or treatments.”
She said the widespread lack of understanding about the condition meant the family was denied access to a registered nurse via the NDIS and was instead offered a support worker.
But Ms Markou said the complexity of Angelina’s condition and the many medications she was on meant having a fully qualified nurse to care for her at times was a matter of life or death.
“It means I can’t leave the house because I can’t leave her in the hands of someone inexperienced – she needs different types of medications for different seizures and (if there’s a mistake) and the paramedics don’t come in time, I lose my child,” she said.
“There’s such little understanding of what childhood dementia is that the whole system hasn’t responded appropriately.
“It’s not acceptable and we need to act fast and change things quickly.”
Ms Markou said that because Angelina often appeared well on the outside, there was a lack of understanding from outsiders who mistakenly believed dementia was only an “old person’s disease”.
“People don’t have to look bad to have a condition that is terminal and devastating and a continuous challenge every single hour,” she said.
CALL FOR HELP
Childhood Dementia Initiative CEO Megan Donnell, whose two children have childhood dementia, told news.com.au the condition sat in a “blind spot”, despite having a similar death rate to childhood cancer.
She said around 50,000 children are born per year with conditions that will lead to childhood dementia, and that 700,000 children in the world are living with dementia today.
“When a child is diagnosed, in the majority of cases they will be handed a death sentence, and that is not acceptable,” she said.
“Pretty much everyone I speak to says they had no idea it existed, which is a big problem for us. I want to get people talking so we can understand the scale of the problem.”
Ms Donnell said CDI wanted support to help find solutions.
“It’s a tragic, tragic situation and incredibly sad and heartbreaking, but I also think there’s a huge opportunity there to significantly improve outcomes for kids,” she said.