Natalia’s story

16 May 2017

Patient stories

Nine-year-old Natalia is the girl she is today thanks to a breakthrough medical discovery made when she was a toddler.

Natalia initially presented to The Children’s Hospital at Westmead with balance problems when she was only three-years-old after nearly two years of unsuccessful tests and treatments for balance problems.

“At two she would be running and try to stop, and instead of stopping she would fall over,” her mother, Beti, said.

“She’d lose her balance whenever she got sick and then she’d get better again. But when she was three she had a major relapse and lost the ability to walk. She just couldn’t stand up; the whole room was spinning around her.”

There had previously been no explanation for Natalia’s balance problems, but that all changed after researchers at the Kids Research Institute identified a new disorder that could help explain why children suddenly develop movement and psychiatric problems.

Researchers, Professor Russell Dale and Associate Professor Fabienne Brilot-Turville, of the Institute for Neuroscience and Muscle Research (INMR), made the world-first discovery, identifying a new type of antibody that binds to a vital protein in the brain called dopamine-2 receptor, the receptor responsible for controlling movement, emotion and behaviour.

As a result of the research developments, A/Prof Brilot-Turville was able to create a test to detect the antibody, which for Natalia, who tested positive, was life changing.

Professor Dale was able to start Natalia on an oral steroid treatment and intravenous immunoglobulin almost immediately and within a few months, her symptoms had disappeared completely.

It has now been six years since Natalia’s treatment, and there is still no sign of the antibody in her blood. She is back to her normal self with no developmental delay or any other side effects.

While there is no guarantee that the balance problem won’t come back, for the time being, things are looking very positive for Natalia and her family.

 

Patient stories