NSW Toddler the only person in Australia with ultra-rare disease

Weston Price is just 19-months-old but he has already made history as the oldest and only known surviving person with Wolman’s disease in the country.

Tara Price and her son Weston at the Children’s Hospital at Westmead, Sydney, where the 19-month-old is undergoing treatment for Wolman's disease. Picture: Britta Campion/The Australian

Weston Price’s very rare and incurable condition meant he was unlikely to live beyond six months. Now aged 19 months, he has made history.

Weston is the oldest and only known survivor in Australia with Wolman’s disease, a condition caused by the absence of the lysosomal acid lipase (LAL) enzyme, meaning complex fats cannot be broken down and therefore accumulate.

But his record-busting title has come at a great cost. Only weeks into his short life, Weston experienced major dysregulation in his immune system, resulting in his liver and spleen being abnormally big. He suffered perturbing symptoms such as vomiting, fever and a worrying change in behaviour where he would not reach to grab things or look people in the eyes.

Doctors at John Hunter Hospital in Newcastle initially believed the condition to be leukaemia but later properly diagnosed Weston within the first week of examining him in ICU, having previously seen one other case of a similar disease.

Nothing in Tara Price’s pregnancy could have indicated her third child would be born with the fewer than one-in-500,000-chance condition.

Tara and Weston Price. Picture: Britta Campion/The Australian

“It was probably the single hardest thing that we’ve ever been through in our entire lives, holding our 11 week-year-old baby with tubes coming out of every orifice,” Mrs Price said.

“There aren’t many support groups that I have found on the ­internet. We don’t know what the future holds, but I do know that he is a different boy to what he was when he came in.”

Weston has been in hospital for most of his life, with his mother ­always by his side, his ­father Will and older siblings Poppy, 11, and Hunter, 9, also in his support ­arsenal.

He is on a treatment program that involves a low-fat diet, ­enzyme-replacement therapy and he has received a bone-marrow transplant from his brother Hunter, in the hope of receiving the ­enzyme needed to break down complex fats.

“[Hunter] dressed up as The Flash, his favourite superhero and he wore that into theatre and had his bone marrow harvested in costume,” Mrs Price said.

Weston, Hunter and their mother are preparing to leave the Children’s Hospital at Westmead in Sydney to return home to Inverell, in the state’s north, 100 days after the transplant.

Weston will be able to receive his enzyme replacement treatment at a hospital close to home, according to his doctor and senior metabolic genetics specialist at West­mead, Kaustuv Bhattacharya.

“[At the start] he wasn’t doing well and he wasn’t processing fat in the diet properly and this was becoming poisonous to him and causing major life-threatening damage,” Dr Bhattacharya said.

Wolman’s disease is caused by a genetic mistake. “It was a bolt from the blue for the family and for everyone involved … It’s a random event when people with mistakes in one of their genes meet someone with a mistake in the same gene and that leads to the inheritance of the child having mistakes in both copies of the same gene,” Dr Bhattacharya said.

In his 20 years as a specialist in the metabolic genetics field, he has seen only one other case of Wolman’s disease. The child died shortly after his diagnosis.

“We hope we have managed to treat [Weston] and put him ­towards a path of cure … This is an amazing outcome for someone who we weren’t sure would survive a year ago,” Dr Bhattacharya said.

He hoped to raise awareness of the treatment plan among practitioners, with the illness’s management only gaining traction in the past 10 years.

Mr Price and Poppy are already home, with Weston’s father only returning to work recently to ­financially support the family. Both parents have had to give up work to be with Weston, with his siblings also making sacrifices with school.

The Price family have had to rely on the generosity of their family and friends, and their GoFundMe account called Weston’s Fight Wolmans Disease.

“The days are definitely slower as we’re getting closer with the ­anticipation of leaving … We’re optimistic for him as well and we’ve never ever lost hope that for him to have a long life,” Mrs Price said.