After four years of research, doctors have finally discovered why Sarah Innes was born without a pancreas.

Sarah was first admitted to The Royal Children’s Hospital (RCH) in 2009 soon after birth and battled to survive neonatal diabetes.  But RCH doctors were stunned to also discover Sarah was missing her pancreas – the first Australian in this position.

As Sarah became the youngest person ever to be fitted with an insulin pump, her mother, Karina, sent DNA samples to experts in Chicago hoping they might determine a diagnosis.

The team at the RCH also sent samples to researchers in the UK. The work paid off last year when scientists identified a gene called GATA6 in 15 children born without a pancreas.

Karina is now in contact with the families of these children in New Zealand, Romania, Germany, the UK, the US and Canada.

While the diagnosis has finally brought some relief, the rareness of the condition means that doctors don’t know what the future holds. Sarah continues to amaze her family by fighting against the odds.

“When she went home no one expected that she would make her first birthday, then her second birthday – and those first two years were really tough,” says Ms Innes. “She is off to school next year and it is a miracle. She is very bubbly, very cheeky and she lights up a room.”

RCH paediatrician Dr Daryl Efron said Sarah has become more stable in the past year despite her complicated medical issues and recently suffering from epilepsy. “She has done better than we expected – she is a tough kid,” Dr Efron said.

Next month Ms Innes hopes that Sarah can meet the international experts who discovered her condition when they meet for a conference on the breakthrough in Chicago.