By Colin MacGillivray
WALLAN mother Louise Pryde has vowed to fight for greater awareness about rare genetic diseases in memory of her daughter Aria, who died of vanishing white matter disease (VWM) in May, and her son Axel who lives with the genetic condition IQSEC2.
The Review previously covered the Pryde family after Aria was diagnosed with VWM in December 2020, and again when her twin brother Axel received his IQSEC2 diagnosis earlier this year.
Aria died after a long battle on May 13, surviving several months longer than doctors initially predicted.
Axel, meanwhile, faces a lifetime of specialist appointments, with IQSEC2 causing a range of intellectual, physical and neurological complications.
Since his IQSEC2 diagnosis, Axel has also been diagnosed with epilepsy, meaning he suffers from two different types of seizures.
Ms Pryde has previously raised money for research into VWM and said the family was now partnering with Jeans for Genes – a charity that funds research into birth defects and genetic diseases.
She said it was her way of continuing Aria’s legacy and improving prospects for children like Axel.
“We’re going to advocate for the diseases you don’t hear about that take lives and cause a lot of pain to families. We want to keep on pushing as much as we can,” she said.
“Jeans for Genes heard about our story through my sister … and they like to get behind stories of kids who have genetic disorders that aren’t common.
“They offered to make Axel an ambassador for Jeans for Genes Day next year. He’ll be one of the faces for Jeans for Genes Day and they’ll be able to televise and get his story out a bit more.”
Ms Pryde said the family had been busy working to raise money for this year’s Jeans for Genes Day on August 6.
She and several friends and supporters set up a stall at the Wallan Market on Saturday and have approached businesses about putting fundraising posters and money collection boxes in their shops.
She said Findon Primary School in Mill Park would host a casual dress day with gold coin donation on August 6 in support of the family’s cause, and she was approaching other schools in the region to see if they were interested.
She said her family was still reeling from Aria’s death, but they had found strength and solace in each other while caring for Axel.
“I haven’t had a break to really be able to process Aria’s passing. In saying that, the 10 months we had with her helped in a way. We knew it was coming for a while,” she said.
“We’re just taking it a day at a time. [My oldest daughter] Charli is struggling quite a bit with it, but we’re all trying to stick together and support each other and lean on each other as much as we can.”
Ms Pryde said increased awareness about genetic diseases could make a huge difference to the lives of parents and children.
“One in every 20 kids is diagnosed with a genetic disease, so it’s a huge number,” she said.
“Some things can be prevented if there is awareness, so the more awareness we can get out there, the better.
“If we had known about [genetic] testing before we had Aria, we could have been tested and we would have found out we were both carriers [for VWM] and we could have gone down different avenues.
“Charli is a carrier but she is an unaffected carrier of VWM, just like myself and my husband.
“There are some conditions that nothing can be done about, but also a huge range where something can be done if there is awareness of them.”
People can donate to the Pryde family’s Jeans for Genes Day fundraising campaign by visiting fundraise.jeansforgenes.org.au/fundraisers/fightingrare.
Social media updates on the family’s fundraising efforts are available at www.facebook.com/AriasFightWithVWMDiseaseAxelsJourneyWithIQSEC2.