Parents call for nationwide screening for deadly muscle-wasting Spinal Muscular Atrophy
Oakley Gough is not the first baby to miss out on a newborn health test that could have prolonged her life, but her parents hope she will be the last.
Six-month-old Oakley was diagnosed with Spinal Muscular Atrophy (SMA) at eight weeks old when she lost the ability to breast or bottle feed and was fitted with a nasogastric tube.
SMA is the childhood version of Motor Neurone Disease and, over time, results in the muscles wasting away.
Babies diagnosed with SMA Type 1 (Oakley's classification) are given a life expectancy of two years, or less than six months without treatment.
Kate and Grant Gough already had a healthy two-year-old daughter when Oakley was born and had no idea they carried a gene that could result in their second child having SMA.
"We had never heard of SMA, we had no family history, we had no idea what to look for," Ms Gough said.
Screening for SMA has been trialled as part of the routine newborn heel-prick test for the past two years in New South Wales and the ACT, …
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