Life-saving gene therapy for deadly childhood disease spinal muscular atrophy now available to more Australian families

详细摘要

A groundbreaking treatment is giving children with the deadly genetic condition spinal muscular atrophy a chance at life, with access now being expanded to help more Australian…

A groundbreaking treatment is giving children with the deadly genetic condition spinal muscular atrophy a chance at life, with access now being expanded to help more Australian families.

The only problem is a single infusion costs $2.5 million, making it the most expensive drug on the pharmaceutical benefits scheme.

WATCH THE VIDEO ABOVE: Life-saving gene therapy expands access for Australian children

Adriana Sharpe was told her baby girl might never reach her second birthday after newborn screening picked up spinal muscular atrophy, making her the first in Australia to be identified through the screening process.

“Living to the age of two was the best case scenario,” Sharpe said. “We were told there was no cure and that left untreated the muscles would waste away.”

Spinal muscular atrophy damages nerves controlling muscles, robbing children of movement, swallowing and eventually breathing. Around one in 10,000 babies is affected.

Professor Michelle Farrar, a paediatric neurologist, said it was “the biggest genetic cause of infant death that we have.”

Sharpe’s daughter received emergency gene therapy at just four weeks old. She’s now eight years old.

“It’s been life changing and lifesaving,” Sharpe said. “She’s doing incredibly well. She’s achieved all of her milestones which has been amazing.”

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