At just five months old, Brian experienced his first seizure.
As he continued to have seizures and developmental delays, genetic testing at 18 months led to a diagnosis of a rare inherited PNKP mutation.
This causes a complex neurodevelopmental disability known as a Developmental and Epileptic Encephalopathy (DEE), which for Brian includes epilepsy, ataxia, intellectual disability, speech delay and ADHD.
Brian has received extensive care and support from teams at the Women’s and Children’s Hospital (WCH), including Neurology and Gastroenterology specialists, as well as genetic counselling following his diagnosis.
Daily life for Brian and his family is busy and full of teamwork, managing medications, therapies, assistive technology and NDIS supports.
He attends his local school, where therapists work closely with educators to support his learning and inclusion.
Despite the challenges he navigates, Brian is full of joy and personality.
His family describe him as "loving, mischievous and adventurous, and happiest when playing with his favourite people and toys".
"He adores cars, Transformers, books about snakes and spiders, and loves bike riding and going to the beach."
Brian's story is being shared to mark Rare Disease Day - the official international awareness-raising campaign for rare diseases, observed annually on the last day of February.
The primary goal of the campaign is to increase awareness among the general public - and decision-makers – about rare diseases and their influence on the lives of families living with these conditions.
Worldwide, around 300 million people live with a rare disease.
There are more than 6000 different rare diseases. About 72 per cent of rare diseases are genetic, and 70 per cent of these genetic rare diseases begin in childhood.
This article was prepared by the Women’s and Children’s Health Network and has been reproduced with permission. For more information on Rare Disease Day click here.
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