Hi there!

Congratulations on your son.



...I don't really know how to start here...

I'll just explain to you what my situation is and my thoughts to some of you questions.
First of all my parents are both carriers. So the first time my mother was pregnant they didn't know about PKU also.
As the baby was born (my sister) my parents had to learn all the PKU stuff. They did and it doesn't seem to be that bad, because later they got another son (my brother who doesn't have PKU) and than finally me (yep, PKU).
I'm sorry I can't tell you what was going through the minds of my parents as my sister was born and what their thoughts about risking another baby with PKU was. We just didn't speak too much about it, even though I asked myself this question sometime.

But the point is that I can't and never even thought of blaming my parents for that. PKU belongs to me, it partly defines me and the strict diat surely left some marks in my character (you need to be faithful and learn pretty early to take the responsibility for yourself).
It's hard to explain but for me (in my mind) their have been only two options:
1. To be born with PKU  2. Not to be born at all.
And I can tell you that I am very happy that my parents decided to have a third baby ;)

Also I'm very proud of my parents to deal with that situation and after all I think they had a harder time dealing with PKU than me and my sister.
BUT! it's not that hard at all!
I don't know where you live, but there's a high chance that a there is a group of PKU related people somewhere reachable who would like to help you. It's a great way to share ideas and informations with other parents with PKU children.
There should be a few producers of low-protein food out there. I can't help you much on that though because I am from germany. You surely know about this http://www.shs-nutrition.com/
Someone else could maybe add some informations here.


Now talking about the quote about abortions:

Don't think about that to much. It is an option (to some... mabye?), so people should be informed about it. I don't understand it myself, because someone who has been through all that once knows how to deal with it and the second time it would be so much easier and normal. But I suppose the information was written by someone unrelated to PKU anyway, so he/she/they doesn't even understand how this strict diat can become normal and a routine in everyday life and doesn't mean problems and suffering all your life hehe.


I hope I could calm you down a bit.

Feel free to ask questions.

First of all congratulations on your new baby boy. I'm sure having a new baby is exciting, but given the circumstances probably very overwhelming as well.

I really want to stress that you and your husband are NOT to blame. You did not know you were carriers just like my parents had no clue that they were carriers of PKU until after I was born and diagnosed with it. I have never once blamed my parents for the fact that I was born with PKU, and I am sure your son will feel the same way.

In fact as crazy as this may sound there are a many opportunities that I have been able to enjoy, BECAUSE I have PKU. I have made some amazing friends through PKU support groups. I've attended events that my local support group holds (camps, holiday parties, picnics, cooking classes, etc...if you are interested in finding a local support group let me know, and I would be more than happy to help). I am more health conscience than my peers, and I don't think I would be interested in working in the medical field if I didn't have PKU. Other than that I am an active dancer, I love bike riding, I currently work in a child care center, and I'm in school for nursing and pre-medicine. So yes, I do have slightly different eating habits, but I am still enjoying my life! This is just one of those 'surprises' that fell into our laps, and we have the make the best of it. I can promise you that with proper treatment your son will lead a very happy, healthy, and normal life.

I am not sure how familiar you and your husband are with the science of genetics, so if you already know what I am going to tell you feel free to ignore this ;). You and your husband are carriers, and this means you each have one mutated gene and one normal gene. In order for your children to have PKU they have to receive two mutated genes, one from each parent. Because you each have two different genes that you could potentially pass onto your child, there is a 1/4 chance that your child will inherit the disorder. Parents do have to make the decision of whether or not they would like to have more children despite the fact that the new baby could also have PKU. My mom has always told new parents of babies born with PKU to give it awhile. See what PKU is all about before you decide to rule out having more children. This is going to be a personal decision that only you and your husband will be able to make. In my families case I have eight siblings. I am the third child in my family, and two of my younger sisters also have PKU, so obviously PKU was not a deciding factor as to whether or not my parents had more children. For me having sisters that have PKU has been helpful. It gives me someone to relate to and my sisters someone to look up to.

I don't view PKU as a horrible disorder, and I know there's always someone worse off than I am. It definitely requires some attention, but it does not dictate my life. My dietitian, who happens to be diabetic, told me to think of PKU like you would diabetes. It is a dietary modification with a couple extra tasks involved. Diabetics monitor what they eat, test their blood, and take insulin. People with PKU monitor how much protein they eat, test their phenylalanine levels, and drink their metabolic formula. Other than that they are able to function in society just like everyone else.

Yes, there is a vast list of foods that people with PKU cannot eat, but there are companies that develop low protein foods. These foods are foods such as breads, pastas, baked goods, and even imitation meats that are medically modified so that they do not contain protein in them. These companies work hard to provide new, healthy, and tasty foods for people with PKU, so I promise your little guy won't go hungry :). Fruits, veggies, snack type foods, and in some cases small amounts of grain products can also be worked into the diet as well.

I hope this helps. Please feel free to send me a message anytime.

~Breanna 18 CPKU

Congratulations on your son!  The diagnosis of PKU is such a shock because your baby seems so perfect.  When Molly was first diagnosed, we were so overwhelmed with grief and worry that sometimes it was hard to sit back and just enjoy the gift of a new baby.  We initially wondered what we could have done to deserve this.  As Molly started to grow and her personality started to emerge that shifted to wondering what we could have done to deserve her.  Molly is now nine.  She is an extremely bright, funny and compassionate child.  She is also a stubborn pain in my butt who loves to torture me -- just like any other nine year old girl.  All I wanted that first year was a fast forward - to look and see that Molly was ok -- and then rewind and enjoy her.  I am going to give you a fast forward.  Here is a video of Molly

If you want to know what your child will eat, go to Cook for Love.  It is a culinary website I created that is devoted to low protein cooking.  www.cookforlove.org

Know that the first year is the most difficult.  I will not lie and tell you things get easy in time, but I will promise that it gets easier.  Good luck and hug that baby!
Brenda

 Hi there!



Congrats on your baby!

I think that all the others have shared their experience and been really helpfull, as they have been to me also in the past.  Some more thoughts from a parent...

I have a six month old daughter with PKU. She looks exactly like her father, and I love her for that. She has my smile, her father's calmness and sometimes  temper, she's smily and social like me. And I'm sure she's going to grow with her own exciting character. Yes, she inherited PKU from both of us, but we have contributed to her  whole wonderful self. I still think that it;s going to be difficult and challenging for her, but I have never thought that I was responsible for that. Don;t feel guilty and I agree with Cookforlove, enjoy, enjoy, enjoy your son as he;s growing up. 

Thank you everyone for replying. I have really accepted this and am determined to get on with it but it has reaally hit my husband hard. He feels so guilty and feels that he is "distancing himself" from me and Riley. I'm finding that harder than Riley having PKU at the moment.
We are in UK
Xxx

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!

Ruth 

Hi Ruth, we are under Great Ormond Street hospital and live about an hours train ride from london so it would be great to hear about any events you organise. Thank you for replying it really does help x

Hi - the next event is on 27 June and is at Duxford air museum - I can't remember the  time but I will look it up for you.  This is not specifically for under 5s but there is usually a good turn out.  I am planning the next under 5s event for around september . we also always have a christmas party, I think it will be in Harlow in Es*** again this year. 

I can't post my email or phone number on this forum, but if we become "friends" on here then I think we can then exchange personal information, and I can forward you all the emails for the group.  The group has a central email address which I will give you and then we will add you to the database to let you know about all the forthcoming events.

And I have just noticed that your son is only about two weeks old so it must all still be a big shock for you and your husband.  It is totally normal to still feel confused and scared, and I'm sure your husband will start to feel better about everything too soon.  I think I was just in floods of tears for the first week but it did get better!  Also remember you have just had a baby which is a massive thing in itself so you will be feeling a bit emotional about that as well!  Please let me know if you ever want to talk or have any specific questions. 

I will try and make you my "friend" on this site now so we can exchange contact details..

Ruth

 breathe- it will be ok- my daughter has classical pku and is 12 weeks old so the fear and anguish you might be feeling is fresh in my memory. In terms of diet there is little they can eat of regular foods but there is a whole host oh phe free products from burgers to cake to pasta and rice and breads and desserts and even milk and egg substitutes- it will be ok