A WA mum talks about the rare disease that will rob her little girl of a long life.
As she watched Hollie excitedly blow out the seven candles on her birthday cake on December 3, Amanda couldn’t help but cry.
Her youngest child had had the celebration of her dreams – a Fat– a themed disguised party with vintage cars, motorbikes, a red carpet – and all his school friends.
For Amanda and her husband Craig, their family’s special day was one of the most joyous yet heartbreaking of their entire lives, knowing that this may be the last time they will see their precious baby girl celebrate her birthday. .
“It was a beautiful day,” said the mother of two from Karratha, Washington. Kidspot.
“As she walked the red carpet…I really felt it. There were tears because of how special the party was and also the reality that there might not be any. else, or one or two birthdays where she can really enjoy it like a normal kid. It hit me really hard – it was a bittersweet moment hard to describe in words.
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The bittersweet moment of a seven-year-old girl’s birthday party. Source: Provided to Kidspot
“She was silent and could not hear us”
When Hollie was five years old, Amanda began to notice that her daughter’s fine motor skills and ability to follow simple instructions were impaired.
“She couldn’t cut in a straight line and we had to repeat ourselves a lot,” recalls Amanda, who also has nine-year-old daughter Maddison.
Much to her parents’ surprise, Hollie was found to suffer from absence seizures, where she seemed to ‘stare into space’ for a few seconds and be quiet without any further movement.
“You wouldn’t know if you weren’t looking for it,” says Amanda, 40. “She would just be empty and couldn’t hear us.”
As doctors struggled to find a diagnosis, Hollie’s cognitive functions had already begun to deteriorate, and things she once found easy, like writing her name, had suddenly become frustrating and difficult.
After almost two years, an MRI revealed strong abnormalities in the then six-year-old’s brain.
“That’s when the alarm bells started ringing,” says Amanda, who works as a registered nurse.
“I tried to push away the gut feelings I was having – but unfortunately it was true.”
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“Life expectancy is late childhood or early to mid-teens. They said nothing can be done for her.” Source: Provided to Kidspot
“His poor knees are torn to shreds after falling to the ground”
This was just the start of their devastating journey.
On April 9 this year, their hearts were shattered into a million pieces when Hollie was diagnosed with Batten’s disease, a very rare neurodegenerative disease also known as neuronal ceroid lipofuscinosis or ceroid lipofuscinosis (CLN5).
The disease – which sees children having seizures, developing infantile dementia and losing many bodily functions – is terminal and incurable.
Life expectancy is late childhood or early to mid-adolescence.
“They said nothing could be done for her,” Amanda painfully recalls the phone call that changed her life.
“I went numb and in shock…then I collapsed and just cried and cried. We made the bravest faces we could for the girls, but the week and month that followed, we barely worked. It didn’t seem real – I felt like I was on another planet.
Since the diagnosis, Amanda has watched her once healthy baby girl become increasingly debilitated with symptoms of Batten disease.
“Some days she will have seizures every few minutes and her poor knees are torn to shreds from falling to the floor,” she says emotionally.
“Her speech has also diminished, so if she sees me crying she’ll be like, ‘Mom, sad’.”
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Hollie will eventually lose her mobility and be confined to a wheelchair and her bed. Source: Provided to Kidspot
“The scariest thing is what the future holds for him and seeing everything taken away from him”
As the disease worsens, Hollie will lose her mobility and will be confined to a wheelchair and her bed.
At any moment, she is expected to lose her sight, the ability to speak, eat and swallow.
“Knowing what has already happened, the scariest thing is what the future holds for her and seeing everything taken away from her,” cries Amanda.
“We try to stay as strong as possible, but it really breaks us.”
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“We want to do things together that we would otherwise have had a lifetime of doing.” Source: Provided to Kidspot
“The smallest things are huge every day – she’s the bravest little girl I know”
The family’s only glimmer of hope is a gene therapy trial to be held in the United States this year, the first of its kind in the world for CLN5. If Hollie is accepted into the trial and he is successful, it will only slow the progression of his life-threatening illness at best.
“We don’t know much about it yet, but we hope it will be available – but there are no guarantees.”
In the precious time they have left, Amanda and Craig give their brave little fighter every possible chance to have the same joyful experiences as any other child his age.
“We got her a bike that’s joined with an adult because it’s not possible for her to pedal and steer at the same time – so to see the smile on her face when she jumped and rolled was beautiful,” she says. .
“The smallest things are huge every day – she’s just the bravest little girl I know.”
“We just wanted them to enjoy their time together while they can and make amazing memories.” Source: Provided to Kidspot
“It’s like a ticking time bomb… how many more will she have?”
Hollie just spent her first Christmas with all of the extended family in Albany, as Amanda focuses on cherishing every special moment before life as they know it’s gone forever.
“Just like her birthday, it’s like a ticking time bomb… how many more will she get? We don’t know,” she said quietly.
“The girls don’t know or understand the full extent of what’s going on, and that’s the only blessing we have.
“We did everything this Christmas because we just wanted them to enjoy their time together while they could and make amazing memories. We want to do things together that we otherwise would have had. a lifetime to do.
A GoFundMe campaign has been set up in Hollie’s name as her family navigates their uncertain road. For more information on Batten disease, visit BDSRA Australia.