By Colin MacGillivray
CHRISTMAS is a time of celebration for most, but for one Wallan family the holiday will be about finding moments of joy amid an ocean of heartache.
Aria Pryde is only 14 months old, but might not live to see Christmas Day after being diagnosed with an extremely rare genetic disorder known as vanishing white matter disease, VWMD.
The disease, which affects fewer than 10 people Australia-wide, is fatal form of leukodystrophy caused by a defective protein affecting the cells that produce myelin – a white, fatty substance that insulates and protects nerve fibres.
The disease can cause seizures, comas and loss of speech and motor skills. It claimed the life of 12-year-old Woonona girl Chloe Saxby earlier this year.
Aria’s aunt Rebecca Santalucia said the family had experienced a waking nightmare since her diagnosis.
“It started off with Aria reaching all her normal milestones as a baby would, and then just noticing one day that she couldn’t hold her head up anymore and she wasn’t able to sit. She just wasn’t able to do all the normal things that a baby should be doing,” she said.
“This was all in the midst of the lockdown, so it was very hard to go to the hospital or doctors with telehealth.
“They did an MRI and my sister had to find out [Aria] had a terminal illness by herself, because nobody else was allowed in the hospital.
“Once we found out she had VWM disease and that her life expectancy wasn’t long, she was already in a comatose state. They first gave her 24 hours, and then they gave her only an hour. We’re going on four months later and she’s still here.
“She’s not in a good way, and we take every day as a blessing with Aria at the moment.”
Heartbreakingly, the situation could become even more tragic for parents Louise and Raymond.
Aria’s twin brother Axel has not been diagnosed with leukodystrophy but has shown developmental delays in crawling and walking.
Their older sister Charlie, six, has shown no signs of the condition.
Ms Santalucia said the diagnosis had rocked the tight-knit family.
“We’re just sticking together and helping out where we can with whatever we can,” she said.
“They’re holding strong, but because we haven’t been given much time to even take in what’s happening and there’s not much that can be done other than pain relief, they feel like they’re living a nightmare and wondering when they’re going to wake up.
“We’ve done everything we can. We’ve had an early Christmas just in case, and they’ve chosen palliative care from home so family can be close and helping out.
“I know the pain I feel as an aunt, and I can’t even imagine it as a parent.
“I feel like their kids are my kids, and my kids are their kids – we’re a very close family.”
With so few cases of VWMD diagnosed each year, Ms Santalucia said there was relatively little research on the disease.
Aria’s family are now appealing for the Wallan community and wider region to come together at Christmas and support them by donating money towards VWMD research.
“With it being so rare, we’d never hear of it,” she said.
“Then we started looking into places that might be doing trials and treatments. There are very few because it is so rare, and when things are that rare, governments don’t really fund research into those diseases.
“We decided to start raising money ourselves in the hope that we can make a change for the next child that gets it.
“We’re attempting to raise as much as we can in a short time span, and we want to continue for as long as we can.
“Aria lives in Wallan, so they’re a local family, and when you’re in a country town like that, if you manage to get the community behind you, you can achieve much bigger goals.”
Aria’s family started a donation page on fundraising website mycause, with all proceeds going towards associate professor Lezanne Ooi’s lab at Illawarra Health and Medical Research Institute – the only lab in Australia currently researching VWMD.
Ms Santalucia said people could support the family by making a donation in lieu of a Christmas gift.
“With lockdown, we’ve been quite limited in what we can do and how we can share it other than on Facebook,” she said.
“We’ve managed to do quite well. We’re almost at $6000 now, but it’s hard when you’re working solely on Facebook.
“We had a Christmas raffle where we had a few people donate items, and we raised about $2800 from that.
“These are the little things you can do to make something bad into something that’s even a little bit positive, by feeling like you’re helping somewhere.
“Wallan is a great town, and we’re hoping they come together once they hear about what’s going on.
“Hopefully we achieve something and we can make a change in such a terrible situation.”
People can support Aria’s family by making a donation at www.mycause.com.au/page/242089/arias-fight-with-leukodystrophy-vwm-disease-christmas-fundraiser.