When Charbel Torbey was four months of age his parents noticed something wasn’t quite right with their son.
“It was around the time of his Christening,” explains his father, David.
“His belly was quite round, swollen. He wasn’t a happy baby. He was crying all the time and his skin wasn’t right. We just didn’t know what was wrong with him. He would have high fevers and he just looked like he was suffering. He was in pain.”
Their parental intuition was right. There was something wrong with Charbel, something so rare that David and his wife, Mirna, would learn of only one other case in Australia.
Charbel's parents are only aware of one other child in Australia with HT-1. File image: iStock
"It was the worst twenty-four hours of my life," David says of the night Charbel was hospitalised.
"I honestly thought he was going to die."
Doctors performed test after test, trying desperately to try and find the cause of the young baby's issues.
"In the end it was a gastroenterologist who found out that he had HT-1," he said.
HT-1 is the abbreviated term used for the disease hereditary tyrosinaemia, a condition which affects only one in 300, 000 babies born in Australia. It is an inherited condition which means that a child can’t break down a protein building block called tyrosine which leads to a build-up of toxic by-products in the liver, leading to damage to the liver, kidneys and brain.
The condition is often diagnosed shortly after birth and symptoms include fever, failure to gain weight, yellowing of the skin and eyes (jaundice) and development of a distinctive cabbage-like odour to the skin and urine.
Without Orfadin, the only treatment for HT-1 was a liver transplant. File image via iStock.
Initial internet research left David and Mirna worried for their son's future. They didn't know whether his mental of physical development was going to be impacted by the disease, or even whether it had the capability to affect his brain. In many ways they were left shocked that their son had a disease this rare.