Newly Diagnosed
All parents of a pku child can relate to the feelings of shock and fear when you receive a call from the hospital to advise that there was a positive result from the newborn screening test.
The situation is made worse as it's unlikely you or anyone else you know has heard of pku and most of the information online refers to brain damage. Please know you are not alone, and in fact you are now part of a wonderful community of children and adults who live completely full lives with pku.
I have a 3 year old daughter with classic pku and my husband and I remember all too well the time we spent at Westmead getting our 2 week old examined and tested. The doctors, nurses and dieticians were lovely and continue to be a great support however, all the information was very overwhelming at the time. We shed many, many tears thinking about all the things that our daughter would miss out on.
Three years on and I am so happy to say that our daughter doesn't miss out on anything.
She is developing just as all the other children her age although her current protein allowance is 6.5g. She is full of energy, loves going to the park, swimming and spends too much time on the ipad! She certainly doesn't miss out on anything. We provide alternatives to cupcakes at birthday parties and she has been in daycare for a couple of years and they work closely with me and provide all her food. She loves a variety of fruits and vegetables but her favourite food is by far pasta which she eats in some form most days. She is starting to discuss her low protein diet and understands she can't eat all the same foods as us or even her younger sister.
The first year is certainly the most challenging, emotions are still very roar and it takes time to wrap your head around meal preparation, supplements and blood tests. Rest assured, there will come a time in the not too distant future where all that comes with raising a child with pku becomes second nature.
Lisa & Shaun Johns
