ONE prick of the heel as a newborn saved Justine Inglis’ life.
The Myrtleford nurse has phenylketonuria, otherwise known as PKU.
It’s a rare disorder that renders the body incapable of breaking down an essential amino acid.
Without early detection and treatment in the first weeks of life, it can lead to brain damage and a shortened life span.
May is national PKU awareness month.
Ms Inglis, 42, is keen to see all parents ensure their newborns are tested for the disease, especially where there are home births.
PKU is often misunderstood.
It’s a condition that remains largely unknown despite it being part of mandatory newborn screening.
The small prick of the heel as a newborn might have saved Ms Inglis’ life but it hasn’t saved her from a lifetime of problems.
There is no cure for PKU and it requires constant monitoring.
Sufferers have varying levels of intolerance to the amino acid phenylalanine, found in breast milk and used in the manufacturing of food and drink products.
People like Ms Inglis have to measure how much phenylalanine they eat every day.
They must limit it so it doesn’t cause neurological complications.
But because it helps to form protein, they also can’t do without it.
“I need protein just the same as everyone else, just not that much,” Ms Inglis said.
Ms Inglis, who works for the Beechworth Health Service, sat in a cafe in Beechworth perusing a copy of a diet plan that takes the fun out of food.
Every meal is like a science experiment with food weighed, mixed and supplemented with phenylalanine replacements.
Ms Inglis is doing what those in the know call being “on diet”.
Years ago, doctors thought PKU sufferers could be taken off the diet that restricts their phenylalanine intake without consequence.
When New Zealand-born Ms Inglis was 14, her doctor told her she could stop with the diet and live normally.
The doctor also warned her it might affect her ability to bear children.
“At 14, I wanted to be normal so badly,” Ms Inglis said.
“I thought, ‘oh well, I just won’t have children’”.
But at 42 with no children, the meaning of not being able to bear a child is different from being a teenager and just wanting a normal life.
Ms Inglis went back on diet nine months ago after she began to notice neurological changes such as memory loss, headaches and mood swings.
It’s her fourth attempt to go back “on diet”.
Not only is good medical support difficult to obtain, fellow PKU sufferers are few and far between.
Statistics show one in up to 14,000 Australians have PKU and 25 babies are diagnosed a year.
Ms Inglis met her first fellow sufferer in 2011.
Today she speaks to bring solidarity, understanding and awareness, particularly for expectant parents considering home births.
She urged them to weigh up the consequences of not having their newborn tested.
“Compare brain damage to a pin prick,” she said.
To read more about Ms Inglis’ experience, visit her website pku-understanding.com For more information and support, email Ms Inglis on email@example.com or visit the Metabolic Dietary Disorders Association website mdda-australia.org