Hello, I have an (almost) 3 year old daughter with PKU. I can't really add to the excellent advice from everyone else – except to say also that Isla is beautiful and very bright and takes the diet in her stride, she is at nursery and thriving in all areas of her life. Having had the pleasure of meeting lots of children with PKU now, I can say that the same is true about all of them too!
That is not to say that I didn't feel exactly the same way as you when we first got the diagnosis, but as Cook for Love says it does get a lot easier (though never completely easy). I also felt the guilt thing but had to keep reminding myself that there was no way I could have known about this condition and, even if I had, it would not have affected my commitment to my pregnancy or to my daughter.
I wanted to reply as I also live in the UK and I wondered where you live and which hospital you attend? Have you been in touch with the NSPKU yet? They organise a conference each year and have a newsletter, which are good ways of getting in touch with other families affected by PKU.
I also organise events for families with children under five for the London and Home Counties PKU support group, so if you live in that area please let me know and I can let you know when our next events are. I found it absolutely invaluable in the early days to see older children with PKU who were absolutely fine. I think it was a real turning point for me when I went to event with both PKU and non-PKU children there, and it was totally impossible to tell which were which!
I was also extremely lucky to have a friend (my age) with PKU who was training as a lawyer with me – he has been a total inspiration as he is very intelligent, bilingual, happily married and now with his own family and generally just getting on with and enjoying his life. He made me realise that apart from this annoying diet, Isla will be able to do whatever she wants in her life.
I think I know which leaflets you have been reading as I remember reading that bit about subsequent pregnancies too and it upset me! I can only speak from my experience and would never judge anyone for any decisions they make – but we are planning another pregnancy hopefully by the end of the year and would never contemplate having any tests done. This is because from what I see PKU has not been something that has negatively impacted on my daughter's life so far. She has not had any pain or obvious suffering because of the condition. She even likes her protein substitute at the moment! The condition can be stressful for us as parents, and no doubt it will have its challenges for her in future as well – but Isla is so happy and I am sure would help any little brother or sister she may have learn all about their special tummy, if they also have PKU.
We also went for some genetic counselling at the hospital we attend and that also helped us come to terms with things – you could ask your consultant about that in due course if you think it might help.
Lastly, congratulations on your little boy!