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A Story of a Rare Genetic Disorder in Newborns

Victorian couple Faye and Youssef share their story on how not just one but two of their children were diagnosed with a rare genetic disorder known as Hereditary Tyrosinaemia Type 1 (HT-1). HT-1 is a condition where the body cannot break down a protein building block called tyrosine. As a result of this deficiency, toxic substances build up in the blood and can cause liver failure, kidney dysfunction and neurological problems.

Written by Oliva Arrow 

Six weeks after giving birth to a baby girl named Jeanette in 2001, Faye Azer and her husband Youssef from Dandenong in Victoria suspected that their newborn daughter was very ill. She had a number of concerning symptoms including an enlarged tummy, severe jaundice and was constantly projectile vomiting with traces of blood.

Faye took her baby to the doctor and was told by the GP that the traces of blood may have been a result of the continuous bouts of projectile vomiting and that jaundice was fairly common amongst babies.  Faye wasn’t convinced and something wasn’t sitting right with her. She hadn’t experience this with her first child and knew that there was something going on but didn’t know what.

Jeanette’s condition began to seriously deteriorate and the Azers’ took her to hospital where she was admitted.  For three weeks, doctors frantically tried to diagnose her condition but they were unable to find anything wrong with Jeanette as the test kept coming back negative. Three weeks after being admitted to hospital, baby Jeanette passed away at 9 weeks of age.

Six weeks after her passing, the autopsy was released and found that Jeanette was born with a life-threatening rare condition known as Hereditary Tyrosinaemia type 1 (HT-1).  It wasn’t diagnosed at birth or tested for during pregnancy.

Faye and Youssef’s world turned upside down following Jeanette’s death. They were given genetic counselling and were told by doctors that there was a 1 in 4 chance that any future children they may have would likely be diagnosed with HT-1 as well.

Knowing this information, Faye was reluctant to have another baby.  She would blame herself if anything happened, knowing the risks of exposing another baby to this condition. However, she and her husband decided that they were not going to completely rule out future children.

In 2003, two years after Jeanette’s passing, Faye fell pregnant with her third child.

Faye contacted staff from The Royal Children’s Hospital in Melbourne to inform them of her pregnancy. She wanted to ensure that every precautionary step was being taken to make sure her third baby was healthy.

Baby Jonathon was born later that year and after undergoing a heel prick test 2 days after his birth, he was diagnosed with HT-1.  Faye was in hysterics when she learnt of Jonathon’s diagnosis. “I had little confidence that anything could be done for Jonathon.  I was crying all the time. Even though I had prepared myself, I couldn’t believe it and was still in shock.” she said.

Faye and Youssef recall Jonathon’s symptoms mirroring those of his elder sister’s when she first became ill to this disease. It was a surreal moment for the Azers’ to be going through it again.

A few days after Jonathon’s birth, he was taken to the Children’s Hospital and the doctors informed the family that there was a drug called Orfadin that was available in Australia and could potentially treat Jonathon’s rare disease.

The Azers’ didn’t hesitate and Jonathon was given the drug and was kept in Intensive Care Unit to see how his body responded. Faye recalls being told by doctors to take life one day at a time, which was a difficult thing for them to hear with everything going on.

24 hours after taking the lifesaving drug, Jonathon’s condition began to improve and there was hope that this drug could save their baby son’s life.

The drug that Jonathan was prescribed did not appear on the list of subsidised Life Saving Drugs Program (LSDP) medications so as a result, it could cost up to $120,000 in his first year of treatment alone. As this was a lifetime treatment for Jonathon, the bill would end up costing hundreds of thousands of dollars.  Without thinking twice, the Azer family told doctors they were prepared to put their house on the market to pay for the treatment if it meant saving their son’s life. They knew that the treatment was the only thing keeping their beautiful baby boy alive and they were prepared to do whatever it took to keep him healthy.

Fortunately, they were told that they wouldn’t need to resort to such measures because there was an opportunity to participate in a clinical trial.  As long as the trial and hospital received funding, there would be no out-of-pocket expenses. Without the hospital’s dedication in assisting the Azer family, they might have lost two children, not to mention the life they had worked so hard to build.

The Azers’ got a crash course on how they were going to manage their son’s condition and his special low-protein diet for life. They were then sent home with their beautiful baby boy.

Now aged thirteen-years old, Jonathon is a happy and active kid.  Even at a young age, he understands that the special low protein diet and medication he takes twice a day is keeping him alive. Whilst he is still coming to terms with not being able to go on school camps or trips with friends (in fear that he will accidently skip a dose of treatment), he accepts that he needs to strictly adhere to his treatment to live a happy, healthy and long life. It’s a lot to manage at his age, but the way he handles his condition would make anyone proud.

The HT-1 condition is often not diagnosed at birth. HT-1 symptoms can include:

  • Fever
  • Failure to gain weight
  • Yellowing of the skin and eyes (jaundice)
  • Development of a distinctive cabbage-like odour to the skin and urine.

In Australia, only 1 or 2 babies are diagnosed with HT-1 every year. Without treatment, the majority of those affected would not make it past their 5th birthday.

With over 2 years in collaboration with the Department of Health, Menarini’s commitment to ensuring Australians have access to this life-changing treatment was granted.  On the 1st of June 2016, eligible Australian children with HT-1, now have access to fully subsidised treatments of the drug following its listing on the Life Saving Drugs Program (LSDP).  Saving your child’s life shouldn’t be narrowed down to affordability. This will benefit many families and save them thousands of dollars in expensive treatments.

For many years Faye and Youssef became accustomed to living in the moment and they never allowed themselves to dream about their son’s future for fear that something might happen to him.  Now, with the drug that saved their son’s life on the LSDP and not having to worry that funding for the trail may one day stop, they can clearly visualise him as a young man who is able to be in a relationship, getting his first job and all those wonderful things that can be taken for granted.

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