Tuesday 19 September 2017

'We were devastated' - Parents on discovering their youngest child is batting same rare disease as his brother

Having children with a rare disease is very challenging. Gemma and Conor Byrne tell Joy Orpen about their worries and their constant struggles to protect and nurture their two very precious boys

Conor and Gemma Byrne with their children, Jacob (four), baby Ethan (10 weeks) and Alannah (six). Photo: Colin O'Riordan
Conor and Gemma Byrne with their children, Jacob (four), baby Ethan (10 weeks) and Alannah (six). Photo: Colin O'Riordan

Joy Orpen

When 41-year-old marketing consultant and Greystones native Conor Byrne holds his infant son in his arms, it's clear there's a strong bond between the two. But this is no ordinary domestic snapshot. Conor is, in fact, deeply concerned about the future for 10-week-old Ethan, and his older brother Jacob, as both boys are living with a rare genetic condition.

Conor and his wife Gemma knew nothing about this condition until Jacob, their middle child, was born four years ago, at the National Maternity Hospital, Holles Street. Five days later, Gemma got a call from the maternity hospital, telling her that a professor from the screening unit wanted to talk to them. "I can still see us sitting in the car while Gemma is on the phone to the hospital," Conor recalls. "And I'm asking desperately, 'What is it? What are they saying?' You just, really, really want your kids to be OK."

Gemma was equally distressed by this sudden turn of events. "When you don't know what it is, or what the future holds, it's very scary. And when they gave us direct access to the professor's mobile-phone number, I knew it had to be serious."

Jacob was moved to Children's University Hospital, Temple Street. His parents soon learned that he had a disorder called phenylketonuria (PKU), which affects one in 4,500 people in Ireland. It's one of six conditions, including cystic fibrosis, that can be detected by the heel-prick test, which is done soon after birth. They also discovered that even though their eldest child, Alannah, who is now six, does not have the condition, both parents carry the defective gene that causes PKU. When a person has this condition, they are unable to convert an amino acid called phenylalanine (Phe) - which is found in most foods, particularly protein-rich foods - into tyrosine (Tyr), another amino acid. Failure to do so, can result in a build-up of Phe, which can then lead to brain damage and other complications. While there is no cure for this life-long condition, early diagnosis and appropriate interventions result in a really good quality of health. "The treatment for PKU has been one of the major successes in medicine since it was first introduced in early 1950s," say the HSE. And while Conor and Gemma would wholeheartedly agree, they have learned from personal experience that it's a constant uphill battle to keep their precious boys in good health. "Every week, we do heel-prick tests at home," explains Conor. "While other families are enjoying cartoons on the TV, we're jabbing the boys. Jacob gets quite upset; he's only four, after all."

The parents then send the blood samples to Temple Street, where the National Centre for Inherited Metabolic Diseases is located. "Having analysed the Phe and Tyr levels, dieticians will then work out how much protein we can give the boys," explains Gemma. "For example, we now know that one Weetabix is equivalent to two grams of protein. Jacob is allowed five grams of protein a day, so that translates into two Weetabix and one rice cake. The rest of his food has to be protein-free. So, no meat, chicken, eggs or fish. He can't even have a vegan diet, because nuts and pulses are full of protein." Gemma says while they do their main family shopping at the supermarket, the rest of it is done at pharmacies, where they source protein-free foods.

Right now, meals in the Byrne household are a complicated affair. Conor, who studied hotel management at the DIT School of Culinary Arts and Food Technology, (Cathal Brugha Street), reigns supreme in the kitchen, so the task of catering for different, complicated dietary requirements falls to him. Since the range of food available to them on the Long-Term Illness Scheme is quite limited, his culinary skills are often challenged. "The scheme only offers the basics," he explains. "In comparison to the UK, it's quite limited. If you want to give the kids treats, you have to pay for them."

Gemma, a busy accountant with a major bank, has taken on the major role of ensuring her boys live as normal a life as possible. "It's hard to manage," she admits. "If we go to friends, I'll find out in advance what we're going to be eating, so I can bring an equivalent for Jacob. Similarly, if he goes to a party, I'll make something special, so he doesn't feel left out."

Gemma constantly worries that people Jacob encounters in the course of his life will not take his condition seriously; that they will think that his parents are overreacting to the situation and that they have him on a "fad" diet. And then they will give him food that he cannot process. "There won't be an immediate reaction, such as you get with an allergy," she explains. "But there will be a build-up of Phe. And if that happens on a daily basis, he could suffer brain damage."

Gemma says it soon becomes apparent if Jacob's dietary needs are not being fully met. "You can see the change in him. He's easily upset, he becomes sluggish; things are just not going at the right speed for him," she says. When that happens, they contact Temple Street, their "go-to place", for help. "They are just amazing," she says. "They are always there for us. While they make absolutely sure we are adhering to the rules of this condition, they are also very reassuring."

Almost three ago, the couple had a second child who also has PKU, Ethan. This came as a very big shock to Conor, who has an optimistic nature. "The odds against it were 75pc," he volunteers. "I didn't even think of that 25pc."

Gemma was more pragmatic. She made sure Holles Street was fully appraised of the family history before she went into labour. "And even though you know the odds, it was devastating to hear that Ethan has the condition too," she says.

Right now, Conor and Gemma are planning to lobby the government to provide a greater range of food choices for their special boys, and to give them access to certain drugs that may lessen the severity of their condition. They also want the HSE to understand their predicament.

"Look at Jacob," says Conor. "You would think there was nothing wrong with him. But behind closed doors, we're working ferociously to keep things going." And that is why he and Gemma are supporting the Medical Research Charities Group (MRCG), which is the national organiser for a number of charities involved in medical research. MRCG also co-ordinated Rare Disease Day, which was held recently.

For more information, see mrcg.ie, pku.ie and metabolic.ie

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