Children like Charbel now have subsidised access to Life Saving Medication.

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.

Previously, the only known treatment for babies like Charbel was a liver transplant. Without treatment doctors estimate that babies with HT-1 won't survive past their fifth birthday.

However, thanks to a revolutionary new drug, called Orfadin, transplants are no longer the only options for treatment. 

"Orfadin contains a medicine called nitisinone which is used for the treatment of HT-1. Nitisinone blocks the breakdown of tyrosine and thus prevents the build-up of toxic by-products," said David. 

Because tyrosine still remains in the body, patients on Orfadin must follow a special low tyrosine diet.

Orfadin was recently placed on the "Life Saving Drugs Program", which has huge implications for families like Charbel's. The program is run by the Australian Government and provides subsidised access, for eligible patients, to expensive life-saving drugs for very rare life-threatening conditions, like HT-1. It took the drugs distributer, Menarini, over two years of close collaboration with the Department of Health for this listing to be approved. Menarini says they were dedicated to the process as part of their belief of putting the patients first and providing access to life changing medications. 

David says that without the listing on the program, he held grave concerns for Charbel's ability to fund his treatment, a medication that he will rely on for the rest of his life.

"It's so important for us. I pick up his medication from the pharmacy and it costs me five, maybe ten dollars. Without it [being on the Life Saving Drugs Program] it would be thousands. I worry about how he would be able to afford that down the track."

Featured image supplied.

The first video showing what a newborn baby sees.