By Jodie Symonds
A TOUGH Mount Evelyn toddler is fighting against her own body, and her family is fighting to raise awareness for the rare neurodevelopment genetic disorder.
Three-year-old Avianna was a happy, healthy and playful child until the age of 17 months, when her mother, Rachael West said “things just weren’t right”.
“Ava started to lose her hearing – we could be talking at the top of our lungs and she wouldn’t hear us,” Ms West said.
“She was starting to lose movement and couldn’t talk – she never got to the walking stage.”
Avianna was given hearing aids, due to being misdiagnosed for hearing loss, and then again when doctors thought it may have been a brain tumour.
Ms West said things just weren’t adding up, and led the family to get a second opinion from a paediatrician.
“She (the paediatrician) said it sounds like Rett Syndrome,” Ms West said.
Rett Syndrome is a rare neurodevelopment genetic disorder that affects the MECP2 gene, and is a sex-linked mutation.
Ms West said only about 450 girls in Australia were diagnosed with Rett Syndrome.
“She will never walk, and will not talk, she has lost her hand function and has severe constipation, disturbed sleep and will most likely experience scoliosis, breathing issues, heart problems and will be fed via a peg tube directly into her stomach,” Ms West said.
“She will spend most of her life in a wheelchair.”
The Mooney family communicate with Avianna through a communication book, where they point to a picture and Avianna moves her head to answer “yes” or “no”.
“It can take up to one minute for her to answer – it’s a long process,” Ms West said.
Avianna’s two older brothers, Declan and Dashiell, help the family take care of her.
“They’re way too mature for their ages – it is hard on them, but they understand,” Avianna’s father, Shannon Mooney said.
Taking care of Avianna is a full-time job, and Ms West and Mr Mooney both work part-time to be able to share time with Avianna.
She attends the Cerebral Palsy Education Centre to maintain as much function as possible.
Physiotherapy, occupational therapy, speech therapy, a paediatrician and a general practitioner all take care of Avianna to give her the best chance at a happy life.
“One of the most devastating things about Rett is she’ll never get better – and she knows she’s different,” Ms West said.
“One of the horrible things that can happen is sudden death in their sleep – it’s scary, really.”
Avianna is trapped within her own body – she understands her surroundings – but is unable to communicate with others in the way other children her age do.
“She definitely understands, she’s knows she’s different to other kids,” Ms West said.
The Mooney family helped volunteer at the Melbourne Marathon event on Sunday 16 October to raise money for the Cerebral Palsy Education Centre, and to raise awareness for Rett Syndrome.
“We were the ones at the finish line when people come through and they feel like they can’t go any further – we cheer them on,” Ms West said.
“We raised over $2000 from this event and between $6000-$8000 this year so far.”
For more information on Rett Syndrome, visit https://cpec.org.au/
