AN inspirational Cork mum has told of how something as innocuous as a slice of birthday cake could lead to brain damage for her son.
Gillian Rea's three-year-old son Ethan suffers from a rare disease known as Phenylketonuria (PKU) - an inborn error that results in decreased metabolism of the amino acid phenylalanine.
If untreated, the condition can lead to intellectual disability, seizures, behavioural issues and psychiatric disorders. The Carrigaline mother of two is calling for more education around PKU due to its high instance in Ireland
“Normally it's one in 10,000 people who suffer from PKU,” she explained. “However, for some reason in Ireland, one in 4,500 are born with the condition.”
As a result of Ethan's condition, food must be specially sourced from selected pharmacies.
“All Ethan's foods come from the pharmacy and include dietary staples such as pasta, bread and milk,” Gillian said. “He also has to take in a synthetic protein substitute and have his blood tested weekly.
“It's impossible to explain to a toddler that certain foods could cause brain damage so we just told him he has a special tummy. He's really good now and if someone offers him a sweet he just says “I can't because of my special tummy.”
Social occasions can be a huge source of concern for Gillian and her husband Andrew.
“While Ethan is really well behaved he's still just a child so there is always that worry he might eat something off someone else's plate. For this reason, I can't drop him off and collect him later. Any party the twins are invited to I always have to stay with them.”
Foods prepared by Gillian each day require meticulous preparation.
“Our whole world revolves around food. We can't just stop off in a restaurant on the way home from somewhere like other families.Anywhere I go I have a bag of food with me. I'm able to make cupcakes for Ethan that look just like regular ones so he doesn't feel left out. Before the twins were born I could barely make toast but a lot has changed since his diagnosis. We've been so lucky Ethan has been such a good eater. The only time I really felt for him was when he was helping his twin brother Ollie open his Easter eggs a few weeks ago. From the start we were advised not to deprive Ollie of the things Ethan can't have. Although we had bought Ollie a gift instead it was still difficult.”
She said the disorder is relatively unknown in Cork adding:
“When it was discovered that Ethan had PKU there was quite a commotion in the maternity ward as staff there had never seen a case of it there before.Some people find it difficult to grasp the severity of Ethan's condition. They automatically assume he's just a vegan or vegetarian. I'll have to explain this isn't the case and PKU is actually a lot more severe and complicated than that. Fortunately, people are a lot more open-minded these days and want to listen and learn more.”
Gillian said Ethan's transition into primary school in 2018 will present further challenges.
“Staff at the pre-school he attends have been great. There will always be someone there to sit with him during lunchtime to ensure Ethan only eats from his own plate. However, primary school could be even more challenging and there'll probably be quite a a number of meetings with the principal before hand. Temple Street are great in that they offer to liaise with the school as well to shed more light on the condition.”
Ethan and his twin brother Ollie are looking forward to their first Summer abroad this Summer.
“We're travelling to America for a holiday this Summer so I'll have to organise a huge stash of food for the plane alone. Andrew and I have to pick up a letter from Temple Street Hospital just to get us through customs.” To find out more about PKU visit www.facebook.com/groups/pkuireland/