Duncraig man tells of difficulties living with genetic disorder PKU


Con Giannas.
Con Giannas.

DUNCRAIG resident Con Giannas has a rare genetic disorder that means he can only eat 15g of protein a day – about a quarter of the normal amount most people consume.

Mr Giannas has phenylketonuria, also known as PKU, and symptoms include chronic tiredness, frequent temper tantrums and lack of concentration.

A doctor advised him to go off his strict low-protein diet when he was seven years old, telling him he was cured of the debilitating condition.

However, Mr Giannas said that led to increased levels of an amino acid called phenylalanine (Phe), which resulted from liver cells not breaking down the amino acid.

“It was affecting my day-to-day life,” he said.

“My body was not processing the food as I was exceeding the protein limit.

“I remember this one particular Italian restaurant we would go to. I would have a beer with a veal scallopini and that would be it.

“I would have to go to the toilet and start doing star jumps to try and keep awake during the dinner. This helped keep my adrenaline and energy levels pumping.

“One time I even went to dinner with my family and my aunty’s family and I completely passed out in a plate of Chinese food.”

Mr Giannas said he went to a different GP in 2014 after learning about PKU online and realising he had most of the symptoms.

“My blood test results revealed my Phe level was at the 2800 mark – while a typical PKU adult needs to be well below 700,” he said.

“I made the decision to get back on the diet immediately – 15g protein per day.”

Not long after being back on the diet, Mr Giannas recalled telling his wife, Melanie, that it was the first time in a long time he remembered what it felt like to be tired.

“When I was off diet, I didn’t know what it felt like – once you were tired, your body shuts down and you need to sleep immediately,” he said.

He visits his specialist every three to four months to get his blood tested and monitor his Phe levels and is connected to a community of people with PKU online.

Those with the condition generally have to avoid protein-rich foods such as red meat, fish, eggs, dairy, lentils, nuts, pasta, soy, chocolate and many vegetables.

This month, the Metabolic Dietary Disorders Association (MDDA) started an initiative ‘The Great Protein Challenge: How Low Pro Can You Go?’.

It encourages people to significantly reduce their protein intake for 24 hours in order to experience a typical day for a person living with PKU.

“Although people with PKU in other parts of the world have access to the only prescription medicine available to treat the condition, Australians with PKU are still not able to get subsidised access to this treatment,” MDDA president Monique Cooper said.

“This means the only currently available treatment option is to adhere to a strict, lifelong, low-protein diet – despite research finding that managing PKU with diet alone does not lead to optimal patient outcomes.

“Imagine being a hungry teenager and your daily limit of protein is equivalent to only two slices of bread.

“For people with PKU, this means a diet restricted to consuming between 1g to 8g of protein a day. This compares to 46g to 64g of protein a day for people without PKU.”

The Great Protein Challenge will finish on Rare Disease Day on February 28 and MDDA hopes to make it an annual event.

Visit www.thegreatproteinchallenge.com.au for more information.

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