05 June 2019
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Six new mums with Phenylketonuria (PKU) have met at the Royal Melbourne Hospital for the first time to talk about managing their genetic condition while pregnant.

The Royal Melbourne Hospital Metabolic Diseases Unit (MDU) has been caring for these six women with PKU and guided them through their pregnancies.

“It’s fundamentally important that women who want to have a baby and have PKU stick to a low protein diet because if they don’t there is a high risk of foetal abnormalities, so they may have children with disability,” Metabolic Dietician Mrs Anne-Marie Desai said.

PKU is a rare genetic condition that causes phenylalanine, an amino-acid component of all proteins, to build up in the body.

High levels of phenylalanine in blood and tissues cannot only cause health problems in the individual with PKU, but can also lead to foetal abnormalities in the babies of mothers if they are not optimally treated during pregnancy.

A strict low-protein diet and prescription of medical food products is required to bring these levels back to normal, so as to ensure that genetically healthy babies do not become severely affected by their mother’s metabolic condition during their development in the womb.

RMH metabolic physician Timothy Fazio explained that more than 50 years ago mums with PKU would often have severely disabled children, which is now completely preventable, by following a strict diet.

“It’s really great to see there’s six healthy bubs that wouldn't have been here 50 years ago thanks to the service here and thanks to the hard work of the mums,” Dr Fazio said.

“We have always looked after adults with PKU, and follow-up is particularly intensive both in the months in the run-up before pregnancy and during pregnancy. It’s been incredibly rewarding being with these women on their journey. Our service covers both Victoria and Tasmania and we look after close to 200 adults with PKU,” Anne-Marie Desai said.

Mother of two Carla Salmon has had PKU since birth, she had her second baby four months ago and found the journey difficult but incredibly rewarding.

“Pregnancy is already such a long journey but when you throw in something like food that so many people take for granted it’s tough, but it’s what you have to do to have a healthy baby, so that counts for everything,” Mrs Salmon said.

Carla said having the support of other women with PKU had a huge impact on keeping her positive through her pregnancies.

“It’s completely different speaking to somebody that has walked in those shoes and knows what it’s like, it’s a different kind of support and friendship, it’s like a little family.”

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