Community Discussion Forum Parent support My son has PKU, how do I deal with this?

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    My 11 day old son has been diagnosed with PKU and because I had never heard of it before.

    The diet control is going to be difficult as there is SO MUCH he can't seem to have, but the thing that is tearing me and my husband up is that we have done this to him. We both carry the gene that has caused this and its the guilt that is making it so hard to swallow.
    Any support would be fantastic, I know it has been caught and treated early enough to allow him to grow and develop perfectly healthy but I was wondering what sort of things he will be able to eat, any information or personal experiance would be fantastic. They gave us a load of information to read through but the first page i read said something about Some parents RISK having another child with PKU whereas others don't want to take the chance, and even if you fall pregnant again they can do a test on the placenta to check if they have it and the pregancy can be terminated

    This is something I could never even dream of doing, Riley is so wanted and loved regardless of PKU, but it makes you wonder if it is really that bad that a parent who has gone through this once would not want to do it again that much they would terminate their unborn child.
    This is all a whirlwind to me at the moment. Please help me get my head around this. My husband and I love our son so much and only want him to grow and develop and enjoy his life to the fullest. Will he grow to resent us for what we have done to him. I just cant quite believe it.

    I really hope I dont offend anyone.

    Kayleigh and Riley
    11 days 

    Avatar of N.

    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
    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.

    Avatar of Breanna

    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

    Avatar of Cook4Love

    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.

    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!

    Avatar of Apostolia

     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

    Avatar of Ruth

    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!



    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

    Avatar of Ruth

    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..


    Avatar of carrie

     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

    Avatar of Janice

    Congradulations on your wonderful baby boy!!!

    Well I dont have the time to read all the replies you got but I am sure they are all encouraging since that is the type of people on here.  I just wanted to say we have 3 children when our 1st  was born we didnt know about PKU she is now an amazing 7 year old thriving in school and can give you an ear full about PKU!   She actually asked us the night befoe her 7th birthday if she would still have PKU after she turned 7.  We held our breaths and answered her yes you will have it for your whole life.  and I was completelly shocked at her reply she said GOOD I would be sad if I wasnt PKU anymore!!   But back when she was diagnosed we where also completly in shock and overwhelmed.  It does get easier!!  Our middle child does not have PKU, but our 3rd and youngest does …he is three and I believe his hobby is sneaking foods he should not have!!  and he is still doing well even with his little Hobby   I did worry about what he would think about us having him when we knew he would have it.  But as for now I think that is nothing to worry about we have to deal with his big brother feeling like he is the different one instead!!  HaHa For a long time we actually did bloodwork on all 3 kids because the middle child felt left out!! 
    Anyway thing will get better!  I promise.  I highly suggest finding a PKU event and attending it will do words for you.  I didnt notice where you are located but we are in wisconsin and there is a great group here plus we know I know contacts in Michigan, Texas, Illinois and Indiana if that helps at all.

    Avatar of Erika

    Hello Kayleigh

    I have a son, Trevor  who is 8 years old now and he is fine as finecan be.  I know it's a lot to take in now, as everything is easier said then done. We chose immediately not to have any more children.  We took care that situation. We thought the same way you did. Really because of guilt, because we did not knowhow it was going to affect his life and our life. You  have 25% chance your baby will have PKU, 50%  they're a carrier and 25% normal. We wish we did not get ahead of ourselves. We would have liked to have another baby.  I think it was so much to take in and they really scare you. Your going to be amazed just how fineRiley will turn out.  I promise. 

    The food is getting so much better, I did not like the low phe food either.  We just fed him lots of fruits and vegtables. His favorite food is french fries.  Once it  sinks in, and you get a handle of things you will be fine too.

    As far as the hubby, I was there too.  He will come around, but right now you have to take charge.  Riley needs you. Don't dwell, or get stuck with what if questions in your mind. Educate yourself on PKU.  God does not give  you more than you can handle.

    Take Care and God Bless You, your husband

    and Riley.

    Avatar of Becky


    I am 20 years old and I have PKU!! I can't believe what you read about risking having more children! I am completely flabber ghasted!! Having PKU really isn't the end of the world! As others have said, there is lots of specially made low protein foods available and there are lots of fruits and veggies that are allowed freely which you would feed a little 1 to keep them healthy anyway!

    I have NEVER blamed my parents for my having PKU EVER!! The thought has never even crossed my mind! And you shouldn't think for ONE minute that your lil man will ever blame you!

    You shouldn't let Riley having PKU stop you from having more children. And your husband certainly shouldn't feel it is his fault because at the end of the day it is one of those things and your son will grow up more or less the same as everybody else. And most of all NO PKU REALLY IS NOT THAT BAD!!!

    As I said I am 20 years old. I am happy and healthy and couldn't wish for a better Mum! I love her very much and as I said, would never blame her for my having PKU!

    Don't worry you haven't offended anyone! And I hope I haven't made you feel worse because I just want you to feel better about the whole situation!

    When I was growing up I always felt special to be different and as long as Riley is loved as he obviously unconditionally is, he will feel special too, and you will have nothing to worry about!

    When he is 20, you will wonder what you were so worried about! I know my Mum and Dad were VERY worried when I was diagnosed. Now they wonder what the worry all was in aid of!

    Hope my comments help!! I would never want to make you feel worse. I hope I have reassured you a little more!


    Avatar of Tanya

    Hello Kayleigh,

    Our son was born May 23rd, and recently diagnosed with PKU. Just thought I would pop by and see how things are going for you. Seems we are simular in stages, as Riley would be just slighly older than Jacob.

    Our story…

    Jake has two mommies. I am one, and my partner, his biological mother is obviously the second. A friend of ours was a donor for us. Unaware of the fact they were both carriers, our lil angel was diagnosed with PKU. Due to incompetent cervix, my partner went into premature labour at week 26 gestation. She was air lifted to a hospital which was better able to care for her and baby should he be born early. He held out two more weeks, and was born at 28 weeks. He was transferred back to our town at week 30. (Just this week) There were so many complications that could have resulted, but against all odds, he has been wonderful!! PKU has been his only stumbling block. When we first looked into it, I thought it was completely terrible, and how could we adjust as a family to his needs. We also have a 10 and 11 year old. This site has been wonderful in helping ease our minds. Things could truly be worse.  They are still testing his levels and from what I understand at this point he is fairly low, and requiring no diet intervention. We are optomistic (or perhaps hopeful) things will stay this way. 

    I have to say, it helped hearing the struggles your husband is having, where you have moved to more of an acceptance. I am firm in that there is no need to place blame. This is nothing we could have controlled, and nothing to give a second thought to. My partner agreed, it was not donors fault, however, struggled with her own role in our son having this disorder. I think she has accepted it now, but it was difficult for me to completely understand why she was beating herself up. As for donor, we have alerted him of the fact he is a carrier, as he does have other children, who may like the heads up, but the thought of stopping them (the children) or him,  from having children was never a thought.

    We are in Canada by the way :) Nice to meet you… all of you! :) 


    Aww beckyboo that brought tears to my eyes, thank you for reassuring me. Riley is doing really well, he is 6 weeks and 2 days old and now weighs 10lb 5oz. GOSH are really pleased with his progress and his phe level for a while was really stable, he went through a growth spurt which messed it up  a little but we are working at getting back on track.

    Im actually looking forward to starting to wean him onto solids now. xxx

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