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Newborn screening changes lives

News ruby newborn screening
WCH News
Posted 29 Jun. 2021

3-year-old Ruby's life changed when she was just 2 days old, after a routine blood test identified she had congenital hypothyroidism.

Her condition means her body is unable to produce hormones from the thyroid gland causing growth and mental delay if left untreated.

But thanks to the newborn screening or "heel prick" test, her condition was identified early and thanks to the care she receives through the WCH, she is a happy toddler.

Her mum Penny says "I think about it every day when we do the medication that if I had said no, because it’s voluntary, if I had said no we wouldn’t have known until there was delay.”

Dr David Ketteridge from the Women’s and Children’s Hospital says the early detection as a result of the test is invaluable.

“It’s likely that she would not have been diagnosed with her condition until she was probably 3, 4, 5, 6, 7, 8 months of age by which stage there would have been irreversible damage to her brain.”

The newborn screening test is offered to every baby born in South Australia at 2 days old and covers more than 30 conditions such as Cystic Fibrosis and Galactosaemia.

To date SA Pathology has screened almost 1 million South Australian babies with 1100 babies identified as having one of the screened disorders.

The family shared their story with Ten News First to encourage all families to take the test.

Watch it here: