By Colin MacGillivray
‘Like hitting the lottery twice, but in the worst possible way’ is how Wallan mother Louise Pryde describes the emotional rollercoaster she and her family are enduring.
While the COVID-19 pandemic afforded some families a chance to spend more time with each other as parents worked from home, the Prydes spent much of the year in and out of hospital after their 17-month-old daughter Aria was diagnosed with vanishing white matter disease.
The rare genetic condition is a fatal form of leukodystrophy affecting the cells that produce myelin – a white, fatty substance that insulates and protects nerve fibres.
As reported in the Review in December, Aria was given only hours to live when she was diagnosed with the disease, but more than six months later she is still battling bravely on.
Now the family has been rocked for a second time.
Aria’s twin brother Axel was also screened for the same disease after showing signs of developmental delays. He was cleared of
Aria’s deadly condition but last month doctors diagnosed him with an even rarer genetic disease – IQSEC2.
Axel’s condition causes intellectual delays and can result in seizures, loss of motor functions and behavioural abnormalities. Only about 100 people worldwide are known to have IQSEC2.
Ms Pryde said her family was still processing the shocking news of Axel’s diagnosis.
“We were devastated. We went in knowing that we were going to be told something, because we knew from a young age there was something there,” she said.
“From about four months he was showing signs of autism, which is also part of this condition. We thought they were going to say he had a form of autism but … would still be able to live a relatively normal life.
“To go in there and be told we had a second kid with another rare genetic condition completely different to Aria’s was not what we were expecting.”
Ms Pryde said it had been difficult to cope with the grief of Axel’s diagnosis while Aria’s condition continued to deteriorate.
“Aria is still here with us. She’s declining, so we’re taking each day as it comes with her. She’s still in a comatose state, which is what she has been in more or less for five months,” she said.
“She’s still fighting and proving them all wrong. I can’t imagine what her little body is going through, but she’s definitely fighting to stick around with us.”
The Prydes had organised a MyCause fundraising page for research into vanishing white matter disease at bit.ly/3szcZe5 after Aria’s diagnosis, but Ms Pryde said she was unsure of what to do for Axel.
“We’re still trying to fundraise for VWM, and once we can get our heads around it, we will definitely be putting up something for Axel, even if it’s just raising funds for us to get equipment for him,” she said.
“We don’t know what we’re going to get approved from the NDIS, and I’ve heard it’s very hard to get funding and approval to get equipment.
“He’ll need frames to help him stand, he’ll need a wheelchair and walking frame. It’s an ongoing need for equipment that he’ll have.
“We’re going to have to fit out our house, probably get a new car to accommodate a wheelchair – there are a lot of things that will need to happen for him as he gets older and starts getting bigger.”
Ms Pryde said the family could easily have been overwhelmed if not for the support of the Wallan community, children’s charities and the caring staff at the Royal Children’s Hospital in Melbourne.
“Very Special Kids and TLC Ambulance gave us a ride down to the zoo,” she said.
“Being told that Aria didn’t have long, we weren’t really strong in ourselves to leave the house without anyone with us. We made a day trip to the zoo, which is one of the things we were wanting to do with the kids when they were born.
“We were greatly appreciative they made that happen and that we got to have that experience as a family.
“I’ve had a lot of support from family and friends, and RCH and Banksia, which are the palliative care team that come out for Aria have been very supportive, and Very Special Kids as well.”
People can support the Pryde family by donating to the MyCause page or visiting www.facebook.com/AriasFightWithVWMDiseaseAxelsJourneyWithIQSEC2 for updates.