Bianca Albanese is part of a large Italian family, but a rare and restrictive genetic disorder doesn’t allow her to tuck into family feasts.
The 28-year-old was born with Phenylketonuria or PKU, a rare and debilitating metabolic disorder which severely limits how much protein she can consume.
Put simply, the Wollongong woman can’t eat protein-rich foods including staples like meat, fish and eggs. If she does, she risks brain damage.
She’s urging others to experience a day in her life, by joining up to The Great Protein Challenge which was launched this week by the Metabolic Dietary Disorders Association (MDDA).
Participants are being asked to pledge funds to support the cause or to take part by abstaining from protein-rich foods for 24 hours.
“It’s not like being on a fad diet to lose weight – if dieters have a cheat day, they can just start again the next day,” Ms Albanese said.
“Every day I have to strictly adhere to my diet or in the short term my energy drops and I won’t be able to think clearly – and in the long term I risk getting brain damage.”
Around 25 babies are born each year in Australia with PKU, which means their liver can’t break down amino acids in proteins. It’s picked up through a blood spot screening or ‘heel prick’ test carried out on all newborns.
“I was diagnosed as a baby so I wasn’t able to have my mother’s breast milk, and instead had to have special formula,” Ms Albanese said.
“I’m allowed six grams of protein a day, compared to 46 to 64 grams a day for those without the disorder.
“I have to weigh everything and have to buy special medical produce, including low-protein pasta, rice and bread, and drink a supplement three times a day.”
Eating out is never easy for Ms Albanese, while travel can be complicated. A biomedical engineer, she often has to address domestic and international conferences and packing is a challenge.
“I’ve always tried not to let my PKU limit what I do, but it certainly makes it more complex,” she said. “On a recent trip overseas for instance, I had to take 30 kilograms of formula with me.”
The challenge – in its first year – urges people to try to stick to 10 grams of protein for 24 hours during February. Funds will help raise awareness and funds for research.
“It’s not a visible disease so raising awareness is important,” Ms Albanese said. “Knowing about it is one thing – living it is another – so this challenge should really open people’s eyes.”
MDDA president Monique Cooper said though people with PKU in other parts of the world had access to the only prescription medicine available to treat the condition, Australians with PKU were still not able to get subsidised access to this treatment.
Original article published by Illawarra Mercury – https://www.illawarramercury.com.au/story/5209612/when-protein-makes-you-sick-wollongong-womans-rare-disorder/