Rett’s syndrome: Telethon Kids Institute spearheading cutting edge treatment for rare neurological disorder

Charlotte EltonThe West Australian
Eight year old Ava Ford with her mother Kristen and dog Chip. Ava has Rett syndrome.
Camera IconEight year old Ava Ford with her mother Kristen and dog Chip. Ava has Rett syndrome. Credit: Jackson Flindell/The Sunday Times

Telethon-funded research is putting WA at the cutting edge of treatment for a rare neurological disorder.

Rett syndrome — caused by an uncommon gene mutation — causes severe physical and intellectual disability, impacting nearly every aspect of a child’s life.

Symptoms include the loss of speech, mobility, and muscle tone, involuntary hand movements, seizures, and breathing issues.

The condition impacts one in every 10,000 girls — an average of one per year in WA. It hardly ever occurs in boys.

There is currently no cure for the condition. But thanks to Telethon Kids Institute Research, many innovative studies are making huge strides in treatment.

Associate Professor Jenny Downs — head of the disability research program at TKI — has conducted studies around how early intervention can train the brains of children with the syndrome to help them adapt.

She is currently finalising the details of a study tracking how exercise can help those with the condition.

“We are looking to see if the girls spend more time upright, if their steps increase, and if their quality of life improves.

“In the pilot study, we found all of those things to be true. You can double someone’s steps with a small routine change. They don’t have to reinvent how they live.

“If we get those results from this study, the next step is to create a website resource for families, so that they can access these wherever they live.

Ava Ford.
Camera IconAva Ford. Credit: Jackson Flindell/The Sunday Times

Eight year old Ava was one of the participants in the program. The bubbly little girl was born a healthy baby — but was diagnosed with the symptom at age four.

Her mother Kristen said TKI have been “fantastic.”

“To have the Rett syndrome research team in WA is just fantastic. We are so lucky,” she said.

“Having the team here is really reassuring for the families. And we’ve met other families in the same situation.”

The research is developing every day. With research breaking new ground every day, a cure could be on the horizon.

“It feels really good to participate in studies on Retts which increase the body of knowledge. It may not help Ava in her life, but it could help some girls in the future,” Kristen said.

“That’s really important. It could help to find a cure.”

Watch the action live on Channel 7 Perth today and donate at any time via telethon7.com

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