Like so many first time mothers, Rhiannon had nothing but gut instinct to tell her that something was wrong when baby Cooper was born.

“He just didn’t seem normal,’’ Rhiannon said. “He didn’t open his eyes and constantly slept. They kept saying he was fine.  It wasn’t until he developed a fever, that an hour later he was completely unrecognizable. They told me, ‘say your goodbyes’.’’

Cooper was rushed from the city to The Children’s Hospital at Westmead in Sydney where it took several weeks for Rhiannon and her partner, Justin, to get a diagnosis of urea cycle disorder. It is a genetic condition caused by a defect in one of the enzymes in the urea cycle. In this disorder, nitrogen accumulates in the blood in the toxic form of ammonia. It can reach the brain, which can cause the person to lapse into coma, can cause irreversible brain damage, and lead to death.

“They said that he’d likely have brain damage, if he ever woke up,’’ Rhiannon said. “They said he might never walk or talk.’’

Cooper bounced back and was home at five months. However, they were “never home for longer than 48 hours’’, and on his first birthday they were told Cooper would need a liver transplant.

“He had the transplant at Christmas time in 2014, and he’s done really well since then.’’

Cooper is a now a cheeky five-year-old boy, walking and talking with boundless energy. He is hoping to start “big school’’ soon if he is well enough. He now faces an extremely serious operation to repair his airway, which was damaged from years of incubation. There is even the possibility of another liver transplant.

“There are lots of ups and downs,’’ Rhiannon said. “But you’ve just got to take it. You can’t walk away from it. You expect nothing, you just have to go with the flow.’’

The family have had Professor Ian Alexander as a doctor since Cooper first arrived at Westmead and now consider him a friend. They know his research at Children’s Medical Research Institute could change their lives, and others’, permanently.

“I think Ian is amazing. He could change the future for everyone. This is genetic, so who knows if our grandchildren or great-grandchildren could have to go through this? Perhaps, rather than a liver transplant, other patients could use gene therapy. Maybe one day people won’t have to go through what we’ve gone through.’’