What is it like to be told that your 'healthy' baby has a disease?
Wendy Cheale, Parent.
Our circumstances were those of a normal family background, married, a daughter Holly three years old (non-PKU) and about to have our second child.
Alexander was born on 12th May 2000; it was an easy birth, and we had a perfectly healthy, normal baby. We were so lucky and very happy.
Thirteen days later I received a phone call from St George's Hospital and was told that the Guthrie test was positive and that Alexander possibly had phenylketonuria.
I didn't know what this was, but remembered the midwife mentioning an unpronounceable name, and that she had never had a positive result in all her years of nursing. In fact if that was the case I would rather she didn't stick a needle in my baby - "Perhaps we could leave it", I asked? . She then explained that she would have to record this and notify our GP, (another lot of questions, I thought) so I consented.
It was a nurse who rang us; she explained the condition and said we must go the next day to St George's. "Why so urgent?" I asked; "Could we leave it until next week?" Then she mentioned strict diet, and brain damage if we didn't follow the diet. I was very shocked. My husband remembered that his cousin, now 35yrs old, had PKU; he didn't see him much, so couldn't remember what had happened years ago.
We were both devastated at the news and that evening felt helpless and quite numb. After all, Alexander looked perfectly healthy; would he be brain damaged? Disabled? Go to normal schools? Lead a normal life? All very frightening.
Next day at St George's our consultant spent two hours explaining the condition and answering our questions. A second blood test was taken (we hoped they had made a mistake, we were in denial). We were told we would have to learn to do blood tests ourselves and I was asked to do it there and then. It had to be done sometime, said our consultant. I declined, my husband nearly passed out with the thought, it was too daunting.
We both cried outside the hospital and most of the way home. We were then faced with making up the supplement, which was very difficult; it smelled terrible and was lumpy; after a couple of hours and many attempts we turned it into a drink. Fortunately Alexander didn't mind it, he was such an easy going baby.
The psychological aspects of the PKU diet are completely unaccounted for. It can unless one is very careful lead to exclusion from participation in eating activities, (children's parties, eating out with friends, pancake day at school etc.) unless properly managed. There are difficulties giving the supplement as they get older; it is absolutely unpalatable, it can take hours to get them to drink it, and no-one can help you. I spent five months with Alexander refusing the drink; it took six hours a day to complete the three doses. Some parents just can't spend this much time on it. Alexander is very aware of being socially excluded in any way and this does and will continue to affect him.
Dental care has been a problem, and although the National Society for Phenylketonuria (NSPKU) produces a leaflet we were not aware of the destructive nature of the continual presence of supplement or the replacement diet, which is high in sugar, on the teeth,. Alexander now has bad decay in three of his teeth; I should have brushed them more. I think we forgot this amongst all the other issues at the time.
NSPKU has been an enormous support to us. To speak to other parents with their experiences is so valuable.
PKU is part of our daily lives now, just another long term project to manage. Alexander is developing 100% normally so far, but mainly he is a happy 4 year old, who makes it all worthwhile.
The NHS support is very good and the staff are dedicated, but there is still a knowledge gap. Our local hospital had no experience but were interested in 'their first PKU child', and the consultant made inappropriate comments e.g. "Nobody knows if PKU children will develop normally".
We generally knew more than the dieticians unless they were PKU specialists. The NHS support is of necessity factual, but what is also needed is emotional support – perhaps this is where NSPKU should/could fit in, assigning a buddy PKU parent counsellor to a newborn child? Then you would know you are not alone, and the need for perseverance with the dietary regime could be stressed.