When Harvey Miller was born five months ago, mother Annie Smith thought he was just like her firstborn - a happy, healthy baby.
But when he wasn't gaining weight at home, Ms Smith and her partner Cameron Miller, both 23, started to get an inkling that something was off.
The Lilli Pilli parents took their son to hospital, and within a week, they were told that Harvey had cystic fibrosis - an incurable genetic condition.
Cystic fibrosis affects the lungs and digestive system. Children with cystic fibrosis have too much salt in their sweat. They also produce thick, sticky mucus that blocks their lungs and clogs their airways. These blockages trap bacteria, which leads to chest infections and lung damage.
The condition can lead to poor growth and diabetes, and the average live expectancy is 34 years. But treatment can improve quality of life.
One in every 2500 babies are affected by cystic fibrosis, and one in 25 people carry the gene in Australia. If both parents are carriers, the chance of having a baby with the condition increases by 25 per cent.
Newborns are typically screened for the disease shortly after birth (the "heel prick" test).
But Harvey's diagnosis flew under the radar, as about 10 per cent of babies show levels that are just under the cut-off for doctors to be alarmed, Ms Smith said.
"We had no idea," she said. "But then he started having dirty nappies all the time, and he was feeding well but weighed less than his birth weight at eight weeks of age. We were told it was just a feeding issue.”
But after many blood tests, the ‘sweat test’ came back positive.
"I had heard of it but never really what it meant,” Ms Smith said. “When we found out we were both carriers of the gene, we felt like we were to blame. But our daughter was born healthy so we didn't think we could have a sick baby. It's heartbreaking but we are now telling friends to get genetic screenings done so they can prepare themselves."
Four-hourly medication to boost pancreatic function that helps absorb fat and nutrients, plus antibiotics and multi-vitamins are a typical part of Harvey's routine.
"We also do physio - pat his chest to encourage movement around his lungs,” Ms Smith said. “He's thinks he's being tickled so he enjoys it."
The family is raising funds for the cystic fibrosis community, and have already raised more than $10,000.
The aim is to raise more at a walkathon event on February 23 at Leichhardt oval.
