Jeans for Genes Day: Brave Robbie's battle against the odds
Robbie Milne has endured more in his 19 months on earth than many will in their lifetime.
At the age when most toddlers learn to take their first steps and utter their first words, Robbie has bravely faced the operating table more times than his parents thought they could bear.
The toddler from Stanthorpe in Queensland has had four major and intensive operations since being born with a cleft lip and palate.
“At 19 weeks pregnant I had a scan to determine the sex of the baby and that was when the cleft was detected,” Robbie’s mother Jenny Reading said.
Further tests then revealed the baby had extensive facial defects.
Jenny and her partner Nicholas Milne were told to consider amniocenteses, an amniotic fluid test, to find out more about the baby’s condition.
“But I refused. It came with a one in 200 chance of miscarriage and I was already facing a one in 700 chance of a child with a cleft palate.”
She said the couple went through a great deal of mental and emotional anguish even after they decided not to terminate the pregnancy.
“We just thought he is suppose to be here, what is suppose to be is what he will be.”
“The pregnancy was still very hard though, as you blame yourself and wonder if it is somehow your fault.”
Sadly their plight is not unusual.
One in 20 children born in Australia suffer from some kind of genetic disease or congenital abnormality such as cleft palate, epilepsy and cancer.
When Robbie was born, he wasn’t breathing properly and went into intensive care where he spent 24 hours on oxygen.
That was when Jenny and Nick realised the importance of the fundamental genetic research done by the Children's Medical Research Institute (CMRI).
“It’s a whole new world in there, when you walk in and see your baby on oxygen and see all the other children they are helping, it’s amazing the work they can do.”
Shortly after he was born, doctors discovered Robbie had hypopituitarism, which means his pituitary gland can’t produce growth hormones, adrenaline and lacks testosterone. There was also confusion about Robbie’s gender due to his very small genitals.
While tests confirmed he was a boy, they also found he had Ring 18, a condition so rare doctors don't know exactly how it will develop.
Since then Robbie has had an operation to correct his lips and palate, surgery to fix his lazy eye and an operation to bring down his testes.
However, Robbie could still suffer from delayed speech, missed milestones and mild hearing loss due to the narrowing of his ear canal.
He also has poor reflexes and has to be given a growth hormone injection six days a week.
Just last month Robbie gave his family a terrifying shock, when he became unresponsive after a small fall.
“We went straight to the hospital… he was just non-responsive until they gave him an emergency dose of hydrocortisone, then an hour later he was walking out of the emergency room smiling and waving goodbye to everyone.”
“He is such a happy baby and draws people to him. He is always loved by people around him and I gain most of my strength from our brave little man.”
A similar fall the following day saw Robbie transported to a Brisbane hospital where he had to spend several days due to a small bleed in the brain.
While the resilient young boy is now living back home with his family, he will remain on medication and face further operations throughout his life.
“When I first heard about what was to come with Robbie I was extremely concerned about the quality of life he would have… but seeing how he faces challenges has eased my worries,” said Nick.
“I am worried about him reaching school, bullying, girlfriends and turning 18 and all the things Dads worry about.
"But he is such a little champion I just love him to bits, his courage amazes me.”
The couple would not change Robbie for the entire world, but they don’t want other children to have to face the same challenges.
“Not knowing what is ahead for him is so hard. All I know is that it will be challenging and you always want your children to be healthy and well,” Jenny said.
Robbie’s family and the Stanthorpe community will be taking part in Jeans for Genes Day tomorrow, which raises crucial funds to help CMRI scientists discover treatments and cures for childhood diseases.
“We have to find those links that help us understand how to treat and cure these diseases,” Jenny said.
Many families the couple had met along their journey have benefited from the CMRI’s research.
“They’re not just finding answers for one thing, they’re doing research on so many different diseases that are affecting people we have met along the way.”
To donate or find out more information about Jeans for Genes Day head to https://www.jeansforgenes.org.au.
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