Every couple of months I go to my gp’s clinic where I have a blood test which is sent to a laboratory where it is tested to see the levels of phenylalanine in my blood. This makes it harder to cheat and have things I’m not allowed as it will show up here. Twice a year I see my doctor and my dietician together. We discuss things like my general health and whether I have any problems. My height, weight, and blood pressure are also measured and we discuss my progress. I really enjoy these meetings as they make me feel like I’m in charge of my own diet instead of my mum doing everything for me.

PKU doesn’t stop me doing things I like, I have been on several holidays, both with my family, and with my school. I take my own food and have no difficulty finding something I can eat and enjoy. Most places where I have stayed have been very helpful when I explain my problem.

I used to get picked on by other children for my condition and had to sit by the teachers at lunch so they could keep an eye on what I was having, this made the other kids think I was a teachers pet who wanted to sit with the teachers all the time. AS IF!!! Also when I was younger, there was a time when I wasn’t invited to a friends birthday party. This was because her mum didn’t fully understand my condition and didn’t want to invite me and end up giving me the wrong thing. Eventually my mother went into school and gave a talk on my condition and its effects where the other parents were invited to come along and listen. Since then I’ve actually made more friends because they know I’m not a teachers pet and just want to be treated like everyone else. When a new girl started at our school who is diabetic, I was the first to make friends with her.

One thing I must always look out for is changes in products, especially drinks. This is because manufacturers are always changing the ingredients, adding some or taking them away. This means they can end up on what I call the “red list”.

I do meet other children with PKU. There are special events organized by the NSPKU where can all get together and just have a good time. I find it exciting meeting others with my problems. It makes me feel like there is so much out there I can do, especially when I meet adults with PKU who have families and jobs and don’t let this one thing hold them back, especially as I will have this condition for ever.

PKU has not stopped me having a normal life. Although at times it is a bit inconvenient, I can still enjoy normal activities and my food, within the limitations of my diet.

James doesn’t have food allergies, though. He suffers from PKU, which drastically limits his diet for the rest of his life. PKU means James’ body can’t metabolize phenylalanine, one of the building blocks of protein.

A highly restricted diet keeps him healthy and experts hope dramatic improvements in treatments could become a reality in his lifetime.

James loves football and bowling. He has the trophies and medals to prove it. In practically all respects, he’s a healthy, happy little boy. His strength is an inspiration to me and I’m his mum!!

His favorite food is burgers and chips and nuggets, special meatless versions of course. In all his six years, James has never eaten meat. And every bite of food he eats is extremely low in protein. Every bite is carefully weighed and measured.

I am very stringent, I know I am but you don’t cheat; you really have to stick to the diet every day to maintain his blood levels and healthy functioning all around.

Many of his friends think he has food allergies. Many ask why he needs to weigh everything he eats.

He tells them we weigh them because he’s on a special diet called PKU. ‘What’s PKU?’” is the standard response to this.

Unchecked, PKU could cause severe mental retardation and seizures. A special formula provides all the protein he needs without the one he doesn’t. Of course, this is a bit hard for a six-year-old to explain to other kids!!

There are always events and fundraising functions for people like James, so please get involved if you get the chance and who knows what the future holds!

James isn’t too concerned about the future though. He’s content with the present.

When Luke had his heal pricked I had no idea that the results would be so devastating (devastating at the time but in hindsight it could have been so much worse). My main message to all of you out there who find out that your child has PKU is, “DON’T WORRY”.  I wish I had someone to speak to at the time, I think it would have made life so much easier. I am not saying that the help we got from the visiting Midwife and Dietitian was no good: you just wanted to speak to someone who had been through it all.

I remember being very depressed and wondering how I would cope. Jeff was strong and he found out a lot about PKU at the various libraries he visited. We were then given a life line, an introduction to a family who had two children with PKU not very far from us. Cheryl was great she reassured me that there are few differences to bring up a child without PKU: her first child did not have the disease.

Gradually I got use to the whole idea myself, and I got into a routine of preparing the formulas: I even got use to the smell! Life continued and little Luke grew bigger and bigger. We got involved in with mother and toddler groups and formed a good relationship with a number of other PKU families: we couldn’t meet that often because we were al spread out. As far as I could see Luke was growing up to be a normal little boy. I on the other hand had to learn to be more organised.

Then not long after Luke’s second birthday I fell pregnant again. It wasn’t planned although Jeff and I always wanted more children. We were a bit apprehensive at first but having had the experience with Luke we knew it wouldn’t be the end of the world if number two was PKU too.

And so it was, Matthew was born on a cold December morning. He seemed healthy enough, but the screening was to show that he had PKU. Did we freak out this time, no we didn’t. In many ways I was much happier that Matthew had PKU because I knew meal times would be easier. Luke was as proud as punch that he now had a little brother.

I thought they would be similar but they were very different in character. Matthew was more demanding, and it was nearly a year before he slept through the night. He seemed to be into everything: very mischievous but he always gave me a great big cheeky smile. He had to learn quickly to stand up for himself when his bigger brother decided that it was his turn to play with a given set of toys. After speaking to mothers whose children did not have PKU it was obvious that he was just like any other child: looking to develop his own character.

After 4 years of having a house full of boys I convinced Jeff that we should go for another, this time I wanted a girl. The question of PKU never even crossed our minds, and as luck would have it, I gave birth to a beautiful bonnie girl just over a year later.

In terms of children, we have had PKU, PKU, PKU. They have all grown healthy and they are doing well at school. They are even keen on sports. It has not been easy, but having spoken to many friends I can say that all the problems we have had are the ones experienced by any family. Remember giving birth to a child with PKU is not the end of the world: they will turn out to be just like any other.