20/02/2026
โ๐ฝ๐ง๐๐๐ฃ ๐๐๐จ ๐ฉ๐๐ช๐๐๐ฉ ๐ช๐จ ๐ง๐๐จ๐๐ก๐๐๐ฃ๐๐ ๐๐ฃ ๐ฌ๐๐ฎ๐จ ๐ฌ๐ ๐ฃ๐๐ซ๐๐ง ๐๐ญ๐ฅ๐๐๐ฉ๐๐.โ โ Brianโs Family. 8 year old Brian (pictured meeting 2 cheeky goats) is a bright, determined and adventurous boy who lives with a rare genetic health condition. We are sharing his story to help raise awareness ahead of .
At just 5 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 Womenโs and Childrenโs 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 โloving, 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.โ
Thank you to Brian and his family for sharing their story and helping raise awareness ahead of . ๐
๐๐ฐ๐ฎ๐ฎ๐ฆ๐ฏ๐ต๐ด ๐ฉ๐ข๐ท๐ฆ ๐ฃ๐ฆ๐ฆ๐ฏ ๐ฅ๐ช๐ด๐ข๐ฃ๐ญ๐ฆ๐ฅ ๐ฅ๐ถ๐ฆ ๐ต๐ฐ ๐๐ ๐ค๐ข๐ณ๐ฆ๐ต๐ข๐ฌ๐ฆ๐ณ ๐ฑ๐ฆ๐ณ๐ช๐ฐ๐ฅ. ๐๐ฐ๐ณ ๐ฎ๐ฐ๐ณ๐ฆ ๐ช๐ฏ๐ง๐ฐ๐ณ๐ฎ๐ข๐ต๐ช๐ฐ๐ฏ, ๐ท๐ช๐ด๐ช๐ต
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