By Margaret Maccoll
One of three brothers, Zac Usai is a happy 16-year-old who laughs a lot and likes to whistle.
His rare X-chromosome-linked genetic disorder, cyclin-dependent kinase-like 5 (CDKL5) results in him having severe neuro-developmental impairment and causes him to suffer regular seizures which have prevented him from attending about half his classes this year at Nambour Special School.
Zac is one in about 600 young people in the world diagnosed with the disorder which affects fewer males than females and he is only one of two people in the world his parents Melissa and Adrian know of whose gene contains a particular mosaic mutation. Zac’s condition is so rare it was only diagnosed when he was 11 years old.
Melissa said he’d had constant fits and stomach issues but tests including MRI scans showed nothing unusual.
Like most people with CDKL5 Zac cannot walk, talk or feed himself and he is confined to a wheelchair. He has visual impairment, sleeps little – sometimes going up to three days without sleep and has had surgery for gastrointestinal problems and scoliosis. Neither Melissa or Adrian carry the mutated gene.
Melissa said Zac has had surgery to insert a titanium rod down his spine to treat his scoliosis and on his stomach including the insertion of a peg through which he can receive nutrition and medication, though he can eat orally.
“His muscles were so weak he couldn’t keep meals down,” she said.
Fifteen years ago Melissa became an Avon lady.
“It was something I could do with a family and Zac,” she said and the CWA welcomed in Melissa and Zac.With Avon having left Australia Melissa still has her representative products which she plans to sell out when the Tewantin Noosa CWA hold an Avon morning on Thursday 1 November at 9.30am at the CWA Hall, Poinciana Avenue, Tewantin. There will be raffles and morning tea. Nothing will be over $10 and all proceeds will support Zac’s family.