PKU: ‘At first, I thought I was the only one feeling like this’

Most parents try to ensure that their children get enough good quality protein in their diets, but the opposite is required for anyone with the rare genetic disorder, phenylketonuria (PKU). Diagnosed by the heel-prick test – given to all babies a few days after birth – the condition requires those with it to follow a low-protein diet for life.

Gary Conway (32) was diagnosed with phenylketonuria (PKU) soon after birth. The absence of the enzyme phenylalanine hydroxylase, needed to break down the amino acid, means he has had to follow a restricted diet since he was a baby.

“I was on special baby milk and baby foods and I never could eat meat, fish, eggs, cheese, milk or nuts,” he says. Instead, Conway’s diet – since childhood – has consisted of fruit and vegetables and specially formulated PKU milk, bread, pasta and biscuits. “I also drink a protein substitute drink four times a day. Without that, I’d be really weak.”

Conway’s average daily intake of protein must not exceed about 12g. The average adult has between 70-80g of protein a day. Some people with PKU have slightly lower or higher tolerance of protein, which is kept in check by regular blood tests.

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Blood tests

Getting results from these blood tests back quickly is essential to managing his condition but currently, he can wait a few weeks to get these results. “When I attended Temple Street children’s hospital, I always got my blood-test results back in a few days; but now, as an adult, it can take three to four weeks. This delay means I can’t rein in my protein intake quickly enough,” he explains. If Conway doesn’t keep his protein consumption in check, he can suffer from anxiety, short-term memory loss, poor concentration and tiredness.

“At first, I thought I was the only one feeling like this but when I met others with PKU, I realised they all go through the same things,” he says. About nine years ago, Conway was also diagnosed with sleep apnoea. Now, his big aim is to lose a lot of weight to try and rid himself of that condition and get back to playing football with his mates.

Many friends

Currently unemployed, Conway previously worked as a chef and has ambitions to start a food business. “I do a lot of walking but I’m not fit enough to play football again yet. I’m looking after my health at the moment and my fiancée, Ciara, has been unbelievably supportive to me and to other people with PKU,” he says.

"I've made so many friends with PKU through the association [PKU Association of Ireland]. Social events – such as trips to restaurants where the chef caters for us and the WhatsApp and Facebook groups are great for sharing ideas and worries," he says.

What advice would he give parents of babies newly diagnosed with PKU? “I’d say, in the beginning it’s a shock but it’s important to be positive and follow the diet correctly. It becomes second nature to children and they won’t miss what they never had.”

People with PKU are welcome to attend the Rare Diseases conference focused on bridging health and social care between hospitals and primary care, in Chartered Accountants House, Pearse Street, Dublin 2, on February 28th. Registration on rdi.ie/rdd-2019.