I have PKU. I was born in 1971 and was in hospital most of my first year. My mum was a midwife and thankfully was very conscientious in my care and diet as a child. I remember seeing children the same age as me in wheelchairs with the same condition. It scared me.
I was taken off diet completely at age 12, and have been off ever since. So in theory, although I have a neurology check up and my levels checked annually, PKU has no effect on my life.


My parents made the decision not to have any other children. I have always regretted not having brothers and sisters, particularly now when I see how close my friends are with their siblings.

In fact, PKU continues to have a profound effect on my adult life. I have suffered anxiety and depression since 1999, which has caused me to doubt my ability to do my role as a children’s nurse, and caused me to completely lose confidence in myself and hate my appearance, my mental health and myself in general. I am aware that this seems to be an issue for many adults who are off diet.

I made the decision not to have children many years ago – I considered it too hard to learn about diet again, and my total lack of will power and inability to stick to any diet made it seem like a total uphill struggle which I did not want badly enough to enter into. I did fall pregnant twice accidentally, and had a termination both times. But not without many questions and heartrending decisions being made.

My biggest regret is the effect this disease has had on my ability to form meaningful relationships.

My parents were taught how to do me finger pricks at home by Great Ormond Street. Every month I dreaded it. I saw the brown envelope come out of the desk and I knew it was coming. My dad had to hold me down, while I kicked and screamed and clenched my hands so tight, there was no blood in my fingers. It would have to be done 3 or 4 times to achieve the desired amount of blood. as a 6yr old child, to have your parents hold you down and inflict pain on you on a regular basis – I was once told by a ‘counsellor ‘ that I was subjected to regular child abuse. I never thought of it that way but actually, that’s probably right. But they had to do it. When I was 10 GOS finally allowed mew to have venous samples taken. But by then the damage had been done. My relationship with my parents was ruined. I love them both and I knew they had to do it – my beloved dad has since died, and I miss him every day. I remember I ran once, through the village to my school. Poor dad had to carry me back, kicking and screaming the whole way.
This not only had implications for my relationship with my parents. As an adult, I have only 5 years ago started my first long term relationship with someone.

I have real relationship issues. I do not completely trust anyone easily. If I form a friendship, it’s an all or nothing relationship. If one person shows me friendship or gains my trust, I automatically demand exclusivity. They are my new bestie. But if they show friendship towards anyone else, I feel total rejection. It tears me to pieces. If I am ever in a situation that I feel is out of my control, I panic and lash out – this has got me in trouble at work on numerous occasions and I have left many roles because the Trust has not got any other positions suitable for me.
It is very difficult to make anyone without PKU understand the lasting effects this has had on me, and continues to have on my life. I am a total failure. As a woman because I do not have children. As a nurse because I fail in every job I take on and let down the people who employ me, and as a friend and girlfriend because I take, take, take all the time and demand so much without giving. My only safe place where I cannot upset anyone is either in my bed or on my own.

Do not let anyone tell you once you are off diet that PKU no longer affects your life. It affects me every day.

Penny, born 1971