This post was written for you by Kayleigh Clayden, mummy of two little boys with PKU, to help raise awareness of the condition that affects around 1 in 10 000 babies.
On 15th May 2010, my husband and I were in my dad’s car on our way to my parents’ house with our 11 day old baby boy Riley. The plan was for us to have a shower and get some sleep while my dad and sister looked after our son. I hadn’t washed my hair in days, had no make-up on and was looking forward to having a nice long snooze. I was sat in the passengers seat while Russ sat in the back with Riley, we were laughing about something when my phone rung. It was a withheld number and I very nearly didn’t answer it. A man was on the line and said “Hello Mrs Clayden, it’s Dr Leonhardt here, I don’t know if you remember the midwives took a blood sample from Riley a few days ago?” Now I was panicking: “Erm yes” my voice was shaking, I did remember Riley having his heel prick, he screamed his head off reducing me to tears, how dare she hurt my baby!
The doctor went on to say that “the result was abnormal and he tested positive for phenylketonuria” he said it was something to do with the break down of food and that there lots of things that Riley wouldn’t be able to eat. He had arranged for a specialist nurse from Great Ormond Street hospital to phone us to explain it all and come up with a “plan of action” and we might need to get to London that day. A plan of action, what did that mean? My son needed treatment and we had to go to the best children’s hospital in the country to get that treatment. I couldn’t remember the conversation I had just had with the doctor so when I broke down my dad pulled over into what we now call the “lay-by of despair” and asked what he’d said I couldn’t explain it properly. I just couldn’t get my head around it. Everything had been so perfect 3 minutes ago.
I said that the doctor had said Riley would have lots of food intolerances and we may have to go to GOSH today. Russ said that everything would be ok and that we would deal with whatever we had to, but little did we know the worst was yet to come. I was in such a state, I needed my mum, so dad drove us to collect her from work and just as we entered the car park my phone rang. I took a deep breath and tried to calm myself down enough to get my words out.
It was Nicky, she introduced herself as the PKU specialist nurse. This meant nothing to me. She asked “what did the doctor tell you about the condition little Riley has?” This conversation had already got me going, my son has a “condition?” “Nothing really” I replied. She went on to give me a very quick explanation of PKU, that it was a condition that affects 1 in 10,000! I cant remember exactly how she explained it as I was sobbing into the phone but in basic terms people with PKU are missing an enzyme in their liver which converts phenylalanine into something which the body can use. Unfortunately phenylalanine is one of the amino acids in protein so everything that contains protein is restricted and has to be weighed accurately so we can monitor how much phenylalanine is in their system. Because they can’t convert it into something useful it will build up in their blood and PKU left untreated will ultimately causing brain damage.
All I heard was brain damage.
I felt sick, I heard Nicky say that he had been diagnosed in plenty of time and that any damage to his brain would have been avoided and he would be just fine. I wasn’t listening, all I could think was brain damage, not my son, not my beautiful Riley who was sound asleep oblivious to all this. My dad took the phone and finished the conversation, I just stared at my baby, he didn’t look any different, still looked as perfect as the day he was born, as perfect as he looked half an hour ago. Half an hour ago we were a loved up newlywed couple with a beautiful baby boy, now we were a mess. Numb. Why us? Why my Riley?
I have never cried so much in my life, the train journey was silent apart from me repeatedly asking Russ “what if we didn’t find out in time, what if our baby is brain damaged?” I crossed my fingers and prayed they had got it wrong. I walked into GOSH thinking “What the hell am I doing here?” We met up with Nicky and she explained that most of Riley’s food would be on prescription and would need to be made from scratch. She explained what PKU was and what he can and cant eat. All of his protein intake must be monitored and weighed, he cant eat meat, fish, eggs, dairy, Soya, anything containing aspartame, pasta, biscuits, and much more. Everything we give him to eat that contains protein must be weighed and converted into points, abit like weight watchers points, and he will have very few points a day. Just enough to give him the protein he needs to grow and develop properly but not enough to be harmful to him. Because his protein intake is limited he would have to take a protein supplement before meals to make sure he was getting enough of the other amino acids.
Every week we would have to carry out a heel prick test to check that his phenylalanine levels were in a safe range, the safe range being 120-360 and his were currently 1700 and still rising. She explained that me and Russ both had a gene that give us a 1 in 4 chance of having a child with PKU, when she told us we both had to carry it, it tore me up inside. He was still breathing, still sleeping, still perfect, what had I done to him. I didn’t deserve this baby who was still so oblivious to all of this mayhem.
She said “You will need to take him off of his regular formula for now and replace it with a phenylalanine free one, then gradually we will reintroduce the one containing protein. We need to carry out another blood test today to check his current level, and will let you know tomorrow, for tonight though keep giving him the formula you have at home.” How could I give him his regular formula now knowing I was poisoning him and with every mouthful I was risking irreversible damage to my child?
“This condition is for life, he will always have it, but it will get easier” How? How could this possibly get easier?
But she was right, it did get easier. Very slowly we slotted into this whole new world we had never heard of before that day. Weighing everything, making two bottles at every feed, heel pricks twice a week, it all fell into place and became second nature to us. My parents were amazing and helped us understand and come to terms with this life I had never imagined.
When I fell pregnant with Devon I thought I had prepared myself for another positive result. I thought I would just deal with it, but it hit me in the face like a brick. I had felt guilty when we found out about Riley having PKU but this was something else entirely. I had given another son PKU and this time I KNEW it was a possibility. I knew it could happen and I still went ahead and fell pregnant anyway. How could I do this to him? I sobbed and wished things were different, why me? Why my kids?
As the days passed the guilt faded, I still feel it sometimes. When they won’t eat, or when Riley refuses to eat his supplement because it tastes like ear wax, or when they are ill and their levels go sky high, I feel the guilt then. Trips out require a lot of planning, it is very difficult to decide on a whim to go out for the day as I need to make all the food and snacks in advance as it is usually a challenge to find something for them to eat while we are out.
Riley is at nursery now and I make him lunch to take with him, I try and make it look as much like the other children’s food as possible. As they get older we will need to tell the boys about their diet. We must explain to them why they cant eat the same as the other kids, and most importantly, teach them that they are not different, they are special and we wouldn’t have them any other way.