A world-first study has shown a low carbohydrate, high fat diet could have a life-changing impact on cognitive function for children living with Kabuki syndrome.
Fifteen-year-old Hugo began experiencing debilitating brain fog episodes where he increasingly struggled to focus on the simplest of tasks like reading. These episodes occurred three to four times a year, lasting three months at a time, effectively halving Hugo's life in focus.
Hugo trialled the ketogenic diet and saw life changing results...
A pilot research telehealth nurse navigation program helped provide Finn and his family with much needed rare disease care management for his very rare condition.
Five-year-old Finn was found to have Noonan syndrome, a rare genetic condition that affects his body development. The incurable condition requires constant management of his symptoms.
Fortunately, they were able to lean on a pilot research project aimed to help...
Groundbreaking trial brings hope for childhood brain tumour patients
A worldwide trial has given hope to children like Montana with chronic brain tumours by considerably shrinking the tumour’s size.
Five-year-old Montana was diagnosed with paediatric low-grade glioma at just a few months old. Surgery, chemotherapy and other medications showed no success in managing her tumour.
With limited treatment options, a new oral drug trial showed promise and has shown hopeful results...
World-first gene discovery transforms Freddie’s life
Thanks to research collaborations, Freddie was able to receive tailored care as the first ever person recorded with an extremely rare condition.
Three-year-old Freddie was admitted to CICU following a surgery to treat a suspected infection.
The unexpected complication was investigated by a team of researchers across Sydney and Melbourne, revealing Freddie had the first-ever recorded form of an extremely rare autoinflammatory condition...
Solving Edmond’s 10-year long rare diagnosis mystery
Genomic testing would solve Edmond's 10 year long rare diagnosis mystery and help provide him a targeted therapy that would change his life.
Edmond was three-years old when he first came to hospital, showing difficulty in walking, running and playing. For years, there was no test that could provide a complete diagnosis for Edmond's complex condition.
This was until a team of clinician researcher geneticists were able to diagnose him with an ultra rare neuropathy and provide a targeted therapy...
