The first time Sally Crockett's son cried, she says she remembers thinking "this is awesome".
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"So was the smile and the laugh," The Junction's mother-of-three said.
"When he was six months old he came off the oxygen. That was just amazing."
Ms Crockett's family life irrevocably changed when her youngest son Ashton, now 11 months old, was born premature, too weak to breathe or suckle.
Doctors spent eight weeks trying to determine a cause for Ashton's "floppiness". A time Ms Crockett describes as an "emotional roller coaster" for her and her family.
"While it's supposed to be a happy time, it was actually a really sad time because you just don't know what's going to happen," she said.
"Doctors tell you 'I'm going to be testing for this'. And then you immediately start googling.
"The life you thought your son and family would have isn't actually going to be what you think."
Four days after Ashton was released from hospital, with a feeding tube and oxygen tank in tow, he was diagnosed with a genetic condition called Prader-Willi Syndrome.
The rarely-talked about disorder is thought to affect one in 15,000 to one in 30,000 people and is usually the result of the random deletion of genetic information from chromosome 15.
The disorder has different impacts on each child, but is generally characterised by weak muscles, delayed development, intellectual difficulties, hormone deficiencies, anxiety and, in older children and adults, a constant sense of hunger. Prader-Willi kids also face a shorter life expectancy.
"There's a lot of treatments that are helping Prader-Willi kids today but there is also a lot of aspects of the disorder that doctors are still trying to crack," Ms Crockett said.
She is hopeful, however, that with research new treatments will arise that will improve the outlook for the current generation of Prader-Willi children, or even lead to a cure.
She has dedicated her spare time to registered charity, the Prader-Willi Research Foundation of Australia, to "do something to help things along".
As the charity's volunteer marketing manager she has organised the biggest fundraising events that have been held in Australia for research into the disorder. "Finding 15" walk-a-thons kicked off in four cities last week as part of international Prader-Willi awareness month.
And Ashton is growing up to be just as determined as his mother.
"He so wants to crawl, he just tries it all day day long," Ms Crockett said.
"He's a beautiful, very determined, happy chap, who is such a joy to have in the house."
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