Life-saving tests for newborns after Sydney study makes fatal condition treatable

The state government will permanently fund screening for a rare but devastating genetic disorder with a high infant death rate, after a study conducted in Sydney showed early therapy could turn diagnosis from a “heart-sink” to a treatable condition.

“Five years ago there was no therapy and, for the most common and severe form of SMA, the day you’d diagnose them was the best they’d ever be,” Associate Professor Michelle Farrar, who led the Sydney portion of the study, said. “It was a real heart-sink to diagnose those kids.”, also demonstrating good results. But Farrar said the shift from SMA being a condition that led to discussions about palliative care options to one treated through a one-off infusion therapy was “dramatic”.

Adriana and Adam Sharpe’s daughter, Alessia, was the first baby to be diagnosed with SMA under the newborn screening program, 17 days after it started in August 2018.Qualifying for the gene therapy trial before she turned one month old, the now four-year-old learnt to crawl within normal a time frame, and now loves to ride her scooter and climb on play equipment.

SCID, which occurs in one in 40,000 births, causes a weakened immune system which can lead to lethal infection. Early stem cell treatment increases the survival rate to 94 per cent.

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