Joe Karlecik with his children

With 2016 marking the 50th Anniversary of newborn screening in Victoria, Joe Karlecik of the Murdoch Children's Research Institute has more than one reason to celebrate. Not only does Joe work as part of the newborn screening team to help identify a range of rare but serious medical conditions across the state, this same testing uncovered his own diagnosis of Phenylketonuria (PKU) at birth. Joe shares his story.

I was born in 1970 at the Williamstown Hospital. Shortly after birth, I was diagnosed with Phenylketonuria (PKU) via newborn screening. Like most of the disorders detected by modern newborn screening, PKU for those who don't know is a recessive genetic condition with a one in four chance that children of carrier parents will have PKU. A child with PKU is unable to break down the amino acid phenylalanine which then accumulates in the blood and can cause damage to the developing brain.

I grew up in a typical European family with two other siblings. My older brother was born in the early 60s, before newborn screening was widely implemented. He also has PKU, but given his condition was not identified at birth, he is severely intellectually disabled.

After my diagnosis I was put on a special diet for around three years. After that my mother decided she couldn’t cope so she stopped the diet and I ended up eating and living like everyone else.

I actually had no idea I had PKU when I was growing up and it’s scary to think about it now. When I look back at my school days, I can see why I struggled at school sometimes.

By the time I hit secondary school, I remember attending appointments with a dietician at The Royal Children’s Hospital. I still didn’t understand my condition very well and continued living a normal life.

In 1996 I settled down and married a beautiful woman called Jasmina. In 2003 I became a technical assistant at the Murdoch Children's Research Institute and that same year, my wife and I had our first child, Taliyah.

I moved into a new role in the newborn screening (NBS) laboratory at the Murdoch Children's in 2004, before welcoming a second child, Kristian, a year later.

These days, I’m still working in the NBS laboratory where I have the honour of working in a great environment with a terrific team. I now also have a much better understanding of PKU and am very grateful that I can use my personal experience to help others.

A special moment during my time in the newborn screening laboratory occurred when I was called upon by a metabolic physician to speak to a couple with a new baby. Their newborn had been diagnosed with PKU and they were understandably very upset. I told them that I have PKU. We chatted about the condition and about my life, my work and my family. Their smiles returned and it was a moment I will never forget.

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