The early months of a child’s development are an exciting time for parents.
But from first step to the first word, it was difficult for Geelong mum Fiona Bell to watch as her otherwise healthy, happy baby slowly began losing these skills.
“Before my daughter Alivia was born I’d never heard of Rett syndrome,” Ms Bell said.
“It was difficult to initially understand what was going on because she was a thriving baby until she began to regress. There wasn’t a lot of information or support and internet searches were a cold way to find out things.
“Bill Callaghan from the Rett Syndrome Association of Australia (RSAA) came and met me at my house and, being someone who had a Rett syndrome child of his own, it was so valuable to talk to him because he’s been there.”
Later this month RSAA will host its first national conference for families in Geelong, its founder’s hometown.
RSAA president Mr Callaghan described the rare condition as a genetic mutation that mostly affected girls.
Rett syndrome can impact breathing, circulation and movement. Symptoms include loss of speech, repetitive movements and curvature of the spine.
Young girls with the condition commonly lose the ability to walk. They are also prone to other medical issues such as seizures, pressure on vital organs like the lungs and heart as well as constipation and heartburn.
“It’s a tough condition. It’s not fair,” Mr Callaghan said.
“As they age they become more aware of the environment. But then more and more medical issues knock them down and after each setback it gets harder for them to achieve things.”
While early intervention is crucial in supporting the girls through their development, ongoing therapies including physio, hydrotherapy, speech therapy and osteopathy are available.
Ms Bell remained hopeful for Alivia despite Rett syndrome having no cure or treatment.
Ms Bell said ‘Livi’ remained happy despite the limitations of her condition.
She loved “water, music and being with other children, especially her peers at mainstream and special school”.
“Livi has the best smile for us every morning when she wakes up,” Ms Bell said.
“She loves going to the beach, the waves and sitting on her sister’s board. She loves her dad playing guitar to her and being read to or listening to books on CD.
“Livi really just loves being involved and included in daily life like helping with cooking and licking the spoon. I guess she just enjoys what most 11-year-olds do.”
The two-day event aims to connect families from across the country so that they can share experiences. Expert speakers from overseas and interstate will offer information about therapies and latest research as well as advice and strategies.
Families will be able to drop off their children at a creche where volunteers will entertain the girls with activities such as facepainting, reading a story or blowing bubbles.
The two-day RSAA conference runs from 20 to 21 November.
Organisers said prospective volunteers for the conference could phone Fiona Bell on 0427 214 950.
RSAA accepts donations at nfp.everydayhero.com/au/rett-syndrome-association-of-australia-incorporated
Originally published at Geelong Independent.