Weston defies all the odds

At nineteen months old, Weston has already made history, becoming the first, and oldest known surviving child in Australia with ultra-rare genetic condition, Wolman’s Disease.

Wolman’s Disease is a congenital condition caused by a change in the LIPA gene, which is responsible for telling the body how to make lysosomal acid lipase, the enzyme needed to breakdown and use fats and cholesterol.

As the most severe form of lysosomal acid lipase deficiency, Wolman’s Disease results in a dangerous build-up of fats in the body’s organs and calcium in the adrenal glands. The condition is incurable, and previously, life expectancy has been between three and six months old.

Weston was diagnosed with the rare condition when he was 12 weeks old.

“I first started having suspicions something wasn’t right with Weston when he was 10 days old,” Weston’s mum, Tara, said.

“He had a very enlarged abdomen, was vomiting constantly and sleeping for up to 20 hours a day. Our GP thought it was a virus and would pass in time but Weston wasn’t getting better.”

“When he was 12 weeks old, I could hardly rouse him and had to hydrate him with a syringe. I took him to the Emergency Department straight away.”

At their local hospital in Inverell, doctors suspected Weston’s symptoms could be leukaemia and he was immediately transferred via the Newborn and paediatric Emergency Transport Service (NETS) to John Hunter Children’s Hospital (JHCH).

After further tests and close consultation with the Metabolic Service at Sydney Children’s Hospitals Network, it was confirmed Weston didn’t have cancer but in fact, Wolman’s Disease.

“After his diagnosis, I braved the first article I could find on Google only for it to say that Wolman’s disease has no cure and all infants die by the time they are six months old,” Tara said.

 “I was terrified but it was also a relief that my fears for several weeks weren't imagined, something was terribly wrong.”

The condition meant Weston was slowly being poisoned by Tara’s breastmilk, with the fats depositing on his organs, in his bloodstream and in his bone marrow. He was almost in complete liver failure, had no adrenal function and had lost significant muscle tone.

In collaboration with Dr Kaustuv Bhattacharya, Senior Metabolic Genetics Specialist at SCHN, doctors placed Weston on a combination treatment program starting with a low-fat diet and enzyme replacement therapy.

Weston’s care required careful collaboration between dietitians, gastroenterologists, endocrinologists, haematologists and intensive care in order to start the process towards recovery.

At five months old, Weston was transferred to The Children’s Hospital at Westmead for a bone marrow transplant, with the combination of treatments hoped to counteract the damage already caused to his little body and to stop any further progression of the disease.

“The failure to breakdown certain fats in the body in this condition has led to activation of the immune system with overwhelming consequences for Weston,” Dr Bhattacharya said.

“Treatment was vital to his survival – we needed to find a way to break down these fats and start Weston on a sustainable very low-fat diet to prevent more fat building up in his body.”

“The combination therapy we trialled with Weston has only been used in a few patients world-wide, but the early results are promising.”

Over the next seven months, Weston’s condition and treatment plan were closely monitored, and incredibly, he continued to recover, defying all the odds.

“In the beginning, even our medical teams didn’t know if Weston would pull through but he has overcome every, single obstacle and continues to surpass everyone’s expectations,” Tara said.

“I think the hardest part now is not knowing a definitive end date because he is writing the story. There are so many unanswered questions, and we are still waiting on a ‘cure’ but I know he is in the best possible hands.”

Working together with teams across JHCH and Armidale Hospital, Dr Bhattacharya and the team developed an ongoing care plan for Weston, including what to do should an emergency occur.

This incredible cross-collaboration between health services is what enabled Weston to finally go home for the first time.

“After such a long time in hospital, returning home was a frightening reality, especially because we live eight hours away, but Dr Bhattacharya and the BMT team ensured there were plans in place for every possible scenario,” Tara said.

“This gave us invaluable peace of mind, along with the support of the phenomenal nurses and managing staff who have guided us every day.”

Since going home, Weston did become unwell again and needed a second bone marrow transplant. Thankfully, this was successful and while still needing regular treatment at the hospital, he is continuing to do remarkably well.

“It’s hard to say out loud, it feels as though we are tempting fate, but Weston is doing well. The change we have seen in our little boy has been incredible.”

“He arrived in hospital a tiny frail 12 week old baby at 3.2kg and is now a very happy 19-month-old who is meeting all of his milestones.”

“Our son was dying and the team at Westmead saved his life. I am beyond grateful.”

Weston will continue to visit the hospital for regular check-ups throughout his childhood, but doctors are encouraged by his progress and hopeful for his future.

“Up until now, we haven’t had a treatment to offer children born with Weston’s condition. These children haven’t reached their first birthday, have been severely unwell for most of their short life and experienced developmental delay,” Dr Bhattacharya said.

“Now we have Weston, who is living a healthy life and is hitting all of his milestones and it is truly incredible to see,” Dr Bhattacharya said.

“This is a fantastic outcome, not just for Weston, but for many kids living with rare diseases, and gives us great hope for what is possible in the future.”

Tara knows the road ahead is long but is happy taking each day as it comes.

“This journey isn’t a race, it’s a marathon, but we view each step as being one closer to the finish line.

February 28 is Rare Disease Day and an opportunity to raise awareness about the thousands of children like Weston who live with a rare disease and the importance of research to help find new treatments, preventions and cures.