'Take her home and make memories': A Wollongong family's fight for their daughter, Amarli

There’s a genetic disease so rare there are less than a dozen documented cases of it worldwide.

One of those with the condition is a little girl living in Wollongong, Amarli Broome – and her family needs help.

Amarli is six years old. She can’t talk, but her mum, Jade, says she loves music, especially Fleetwood Mac and Van Morrison, and her brothers Bohdi (8) and Jordi (15 months).

Amarli loves it when her mum dances with her or takes her for a swim in the pool.

“She’s got the most infectious smile,” Jade said.

“It’s a superpower. I’m not just saying that because I’m her mum; I see the effect she has on everyone she meets.

“She’s very special; we’ve been blessed.”

Amarli was born a little early, and a little small. She was screened for trisomy-18 while she was still in the womb, but the tests came back clear.

She failed her newborn hearing tests, but doctors assured her mum and dad that was normal for a premie baby.

But her hearing didn’t improve, and she wasn’t meeting the milestones her big brother had met.

When she was eight months old Amarli stopped breathing.

Her parents rushed her to Wollongong Hospital, and she was transferred to Sydney Children’s Hospital where she would spend the next four months.

Amarli began to have seizures.

After months of hospital visits and tests doctors diagnosed Amarli with GRIK2, a rare genetic disorder. At the time, there were only three other children in the world who had been identified with the disorder.

Because GRIK2 is so rare, not much is known about it. There has been minimal study of the disease. There is no treatment and no cure.

“We were told to take her home and love her, and that’s what we have done,” Jade said.

“We didn’t let the diagnosis stop us, tried to stay private and live a somewhat normal life.

“It’s important to us Amarli is included in everything we do as a family, so she’s been to the snow, she’s been to the Gold Coast, she’s been camping; she really has done so much considering everything she has been through.”

Respiratory viruses can be devastating for Amarli. She’s been in and out of hospital often, but in August 2023 things took a turn for the worse.

“She caught a common cold and ended up in the ICU,” Jade said.

“She’s been pretty much dependent on ventilation since then. She can’t walk, speak or eat.

“In November her doctors said things aren’t likely to improve and that we should take her home and make memories.

“It was devastating.”

Jade had to leave her job as a registered nurse to provide Amarli with the round-the-clock care she needs.

She said finding qualified in-home support workers willing to help care for Amarli was tough, and the family had finally had to reach out to the wider community for help.

“It’s been one thing after another, but she’s still there smiling; I don’t know how she does it,” Jade said.

“We couldn’t do it without the support we’ve had from our community and family; there are no words for it.

“But things have changed for us in the past six months.”

That’s why Jade is going to take on a two-day charity walk from Sydney Children’s Hospital to Wollongong Public Hospital over the weekend of 3-4 August.

The charity walk will coincide with a ‘Trek for Amarli’ in Wales. Her father Lee and big brother Bohdi, along with a team of family from England, will be climbing up and down the Snowdonia Mountain Range six times over 50 hours.

Anyone who can is encouraged to pull on their joggers and meet Jade for day two of the trek from Stanwell Park to Wollongong Harbour on Sunday 4 August at Loaf Cafe Stanwell Park at 6 am. To register, go here.

Those who cannot walk are being invited to meet participants at the finish line at Wiseman’s Bowling Club to help raise money through a silent auction.

Donations can be made via the family’s GoFundMe page: Fundraiser by Stephen O’Callaghan : Support our Trek For Amarli (gofundme.com)

Anyone who can sponsor the event is urged to email [email protected].

All money raised from the 35-kilometre community walk will go towards ongoing treatment, medical bills, professional carers and research into finding a cure.