Nate Primmer was diagnosed with Pompe Disease at just 7 months old, but it was already too late.
He lived with the glycogen mal-absorption illness until it claimed his life at just 2 years old.
Maryborough mum Jenna says he would still be alive today if he had been screened for the disease at birth and received treatment straight away, before the illness got the upper hand.
She and the Australian Pompe Association are calling for the illness to be included in a list of genetic conditions that are curremtly screened with a simple heel-prick test.
The Australian Pompe Association... http://australianpompe.org.au/