Six weeks after the birth of their daughter Jeanette in 2001, Melbourne couple Faye and Youssef Azer knew their baby was seriously ill.
She had severe jaundice, a bloated stomach and her vomit contained traces of blood. The last three weeks of Jeanette’s life were spent in hospital, as doctors frantically tried to diagnose her condition.
She died at nine weeks old and her parents had no idea why.
It wasn’t until six weeks later, when the results of her autopsy were released, that Faye and Youssef discovered their daughter was born with an extremely rare, life threatening condition called hereditary tyrosinaemia type 1 (HT-1).
There’s a one in 100,000 chance a baby will be born with HT-1 and there less than 20 cases in Australia.
The majority of babies with HT-1 won’t make it past their fifth birthday. Their bodies cannot break down a protein building block called tyrosine, which creates a build-up of toxic byproducts in the liver, damaging the liver, kidneys and brain. Symptoms include jaundice, a fever and a failure to gain weight.
The disease is genetic and both parents need to have the defective gene to pass it onto their child. Faye and Youssef have an older son, now 17, who does not have the condition.
After Jeanette’s diagnosis we had some genetic counselling and we were told there was a one in four chance of this recurring, if we had another baby,” Faye, 39, told news.com.au.
“I didn’t want to have any more children, but my husband really wanted more kids. After a lot of back and forth we finally agreed to take the risk,” she said.
In 2003, Faye gave birth to a boy named Jonathan. Straight away, she knew he also had Jeanette’s condition, tyrosinemia.
“I knew exactly what I was looking for,” she said. “I put him in my bed and just watched him for 24 hours and I thought ‘This is only going to end badly’. I hadn’t even finished grieving for my daughter and I had to go through it all over again.
“I blamed myself and I felt so guilty. I was in hysterics, I had a breakdown.”
But help soon came in the form of a life saving drug, called Orfadin. The catch? A 10mg pill costs $45. Jonathan, who is now 13, takes 12 pills a day.
“He takes six in the morning and six at night, so it costs roughly $400-$500 a day,” Faye said. The first year of his treatment cost an estimated $120,000. Luckily, Jonathan received free access to the drug through involvement in a clinical trial.
“I nearly fell off my chair,” said Faye, “because I was expecting to be told ‘There’s nothing we can do’. I couldn’t believe what I was hearing. I wanted to bend over and kiss the ground.
Faye called Orfadin a “miracle drug” and says it saved her son’s life. “Now he’s able to go into adulthood living a completely normal life,” she said.