Our Story
Tuesday 11th Feb
Like any lively six-year-old (now 7), Ava Rees loves chocolate.
But she knows more than a small bite at a time could lead to permanent brain damage.
βAt Easter, I canβt have chocolate Easter eggs,β the grade 1 (2) student said.
βIt could make my brain go silly and make me go to hospital and die.
βIt just makes me upset because I canβt have chocolate, milk and lots of other stuff thatβs yummy.β
Ava, from Numurkah in the Goulburn Valley, was born with a genetic condition called Maple Syrup Urine Disease that is so rare it affects only one in 150,000 children.
She must follow a strict low-protein diet for life: no meat, no dairy, limited gluten.
Ava has been a patient at the Royal Childrenβs Hospital since she was a newborn, after her disease was detected by a routine heel prick test.
Mrs Rees was told to rush Ava into Shepparton Hospitalβs emergency department, from where she was flown to the Royal Childrenβs in Melbourne.
βThe diagnosis was horrible; the first 12 months was horrible,β Mrs Rees said.
βShe has to be on a very strict low-protein diet or she can get brain damage.
βAbsolute worst case, if she went off diet, sheβd be very ill and end up in a coma. So itβs very, very serious, but easily managed.β
From when she was tiny, Ava learned to say, βI canβt have that because it will hurt my brain.β
The name for the disease stems from a symptom β people with maple syrup urine disease can have sweet-smelling urine, similar to maple syrup, when they getΒ ill.
Ava has a weekly finger prick blood test to check her amino acids, and her diet is tweaked accordingly.
But Mrs Rees said after sending the sample to the Royal Childrenβs, it took a week to get the results.
Mrs Rees hopes the Good Friday Appealβs expansion of funding to regional hospitals could mean Avaβs blood samples can be tested locally.
βIf we can get results the same day, it would mean we could potentially play around with her diet,β she said. βBut we canβt risk that now.β
Written by Jen Kelly
Published in the Herald Sun 09/02/2024
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Great job Ava β€οΈ