'He was just one week old when a doctor rang' – One mother tells her story on world rare disease day

From the outside, our family life looks as normal as anyone else’s. From the inside, the reality is very different.

It was March 2013. My second-born, Jacob, had just turned one week old. My mobile phone rang. It was a doctor from Holles Street Hospital to tell me that Jacob had been diagnosed with a rare, genetic, metabolic condition called Phenylketonuria or PKU. Myself and my husband, Conor, were floored. 

We had never heard of PKU before let alone realised that we were both carriers of the defective gene. It was the beginning of what would be a difficult journey – both mentally and physically – but one which has taught us to be so grateful for everything that we have.

PKU is caused by a defect in the gene that helps create the enzyme needed to break down the amino acid phenylalanine, which is found mostly in foods that contain protein.

As a result, a dangerous build-up can develop when a person with PKU eats foods that are high in protein, leading to serious health problems. Bottom line is that it means a highly-restrictive low-protein diet – for life.

Our daily routine consists of measuring and monitoring food. Simple occasions like going for a family meal, or a party, require hours of preparation to ensure we have food for every eventuality. Whilst Jacob, now almost 6 years old, understands what he can and cannot eat, he is often frustrated as he can’t eat the chocolate bar his older sister Alannah is eating, or have cake at his friend’s birthday party. 

There are a lot of times that I wish he didn’t have to make these decisions and sacrifices, and that he could experience food without these boundaries. However, the consequences of not keeping to the diet are developmental issues which are hugely detrimental in a young child. It has taken me a long time to realise that I don’t just have a kid with PKU, but that I have a rare and special son with a kind heart and strength beyond his years.

Jacob’s diet does allow for some protein which for him is currently four grams a day. In terms of food that is the equivalent of two Weetabix or a small yoghurt or four cream crackers. It means he mainly eats fruit and vegetables, some of which are high in protein, and so the volume needs to be limited. This is accompanied by pharmaceutically-manufactured foods where the protein content is suitable for someone with PKU. 

There is a very limited list of foods covered under the Long-term Illness Scheme which are provided through our local pharmacy and include pasta, rice, bread and milk. Any protein-free food which is considered “luxurious”, for example, croutons, potato cake mix, breakfast bars or noodles, are not covered and can be hard to find, very costly, or both. 

Jacob is also required to drink three protein-substitute drinks every day and, while these drinks provide the protein for Jacob to grow, they are harsh on his stomach and can potentially cause tooth decay. Most low-protein foods are imported from the UK, so I do worry about Brexit and if it could result in long delays for food which the boys need to survive.

Fast forward five years and Jacob has grown to be a smart, funny and highly-sociable young boy. He is thriving at school, and at sports, and has a ridiculous number of friends.

But our story of life with PKU doesn’t end there. 

Two years ago, Ethan was born and despite the odds of him having PKU being only 25 per cent, he was also born with the condition. Getting that phone call from Holles Street the second time around wasn’t any easier. We were prepared for the tests, but nothing prepares you for the insurmountable guilt you feel. Like Jacob, Ethan is thriving as we maintain his low-protein diet. 

To ensure the boys are on the right track with their diets we take a blood sample every week. This can be painful for a young child. There was a time when Sunday mornings were a thing to dread in our house as Jacob would become hysterical. Thankfully, that has passed. These bloods are then sent into Temple Street Children’s University Hospital for analysis. It is another challenging, but important, aspect of life with PKU, and the amazing metabolic team ensures the boys stay within the required phenylalanine range. Any results outside of this require their diet to be adjusted. The support and kindness of the team has been a huge help to us as we navigate this journey.

I worry not only for my boys but for Alannah too. She is an intelligent girl way beyond her eight years. Despite not having PKU, she is growing up around this condition and never once complains about the impact it has on her life. She forgoes certain food so that she has the same as her brothers, and has become acutely aware of how their diet is so important to their health and well-being. Our family life revolves around PKU as it touches every part of our day, but Alannah just gets on with it.

My hope for the boys’ future is, like any parent, that they are happy and healthy. For Jacob and Ethan, that’s not as straight-forward as their peers. Sticking to the diet is a must and it would be amazing to see more variety of food and ingredients available, as well as more pre-prepared options, instead of having to make practically everything from scratch. 

The accessibility of low-protein products in other countries is so much better than what we currently have available here. To give the boys more choice would be a huge step forward.

To mark World Rare Disease Day on Thursday February 28, Rare Diseases Ireland is hosting a conference ‘Bridging Health & Social Care’ in CA House, Dublin 2. To register visit www.rdi.ie/rdd-2019. For more information on PKU, visit www.pku.ie

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