Community Discussion Forum New to Adopted Child with PKU

Viewing 6 posts - 1 through 6 (of 6 total)
  • Author
  • #7935
    Avatar of Stuart

    I have just joined this site as I have some questions regarding a child with PKU that dont appear to have been answered in other topics. Here is the short version:
    We are currently in the process of adopting a 12 month old child who has been diagnosed as a PKU carrier but not with the actual condition herself. I understand that as a carrier she is not subject to the dietry restrictions however her birth mother obviously had PKU but stopped monitoring her levels and diet late on in the pregnancy (although it is our understanding that she did adherre to the diet for the majority of the pregnancy but not toward the end). As a result the child was born slightly smaller as she stopped growing in the womb just before birth, however although she had small head in the beginning, she is now in proportion albeit small for her age.
    My question is this: although she has had the normal tests for a 1 year old and her speech, motor skills and reactions are all normal (she smiles, is nearly walking and has good bonding and eye contact), is there a possibility that she could develope mental illness, low IQ or retardation/disabilities later on as a result of the mothers non-adherrance to the diet whilst pregnant? If so would it show now or is it possible that she pass all the normal tests but encounter problems later in life? Basically, if she is meeting all her milestones now and shows no sign of problems, is that an indication that she will be healthy her whole life? Apparently her step-brother showed signs of learning difficulties at age 7 but his pregnany could have been under completely different circumstances!
    Sorry for the long message, just wanted to make sure all the info was included
    Your comments, opinions and experiences would be very grateful.

    Avatar of Breanna

    Good luck with the adoption !
    I would imagine if she is developing at the right pace right now that would indicate that she does not have cognitive issues. There really is no way to way to tell if she will or will not develope a learning disability in the future as that is usually not diagnosed until children are older and in school. Even if she were to ever develope a learning disability there is no 100% way to tell if that is just how things work out or if it has to do with her birth mothers diet.
    I have a cousin who seemed very up to speed until he was about two. Today he is in special education classes. His mother and him do not have PKU, so it was not PKU related at all. My point is that anything can happen and nothing is ever for certain.
    Like I said I would say that she sounds like she is doing wonderfully. Try to focus on the now and here and if issues occur as she gets older I am almost certain you will be able to overcome them!

    Avatar of Jennifer

    I’d have to agree with Brea!! Anything as severe as mental retardation will not occur. Since your baby is now out of the environment that was full of excessive phenylalanine levels (birth mother’s womb), I think the damage that could be done WAS done already (which doesn’t sound like much!). Now, your baby is healthy and relying on its OWN body to do all those fun metabolic processes, which occur normally if she’s just a carrier!! Another plus, many pregnant women with PKU can and SHOULD basically go off the diet in their 3rd trimester. By that time, the baby inside them is large enough that it can break down the phenylalanine the mother’s body can’t. Babies at this stage need more phenylalanine to develop which is why some mommies are allowed to eat quite a bit more protein late in a pregnancy. One of the “many” reasons I’m looking forward to having children…. :-) There’s still always the chance of learning disabilities developing, but these could be due to anything, not just the birth mother’s diet. I’m sure your baby is going to be awesome!! :-)

    Avatar of Tracie

    Hi there,
    I Followed my PKU diet to a tee when having my daughter.
    She is a carrier,but does not have pku,however
    she does have ADHD.We honestly could not tell till she started grade school,and report cards came,and Parent teacher conferences.

    She is NOT medicated.Her dad,and i taught her how to recongnise her own outbursts.
    I think it will just depend on your daughter as she ages.

    She is like every other child just alot more outgoing,and from what her teacher says A VERY HAPPY CHILD!

    I hope i was some help.

    Avatar of Jeremy

    Congrats on the adoption! There is a major difference in being a carrier vs. having PKU. Carrier is just saying that, if matched with another person that is a carrier, there is pretty much a guarantee that the child would have PKU. nThere are no severe symptoms (if any at all) that are associated with being a carrier (i.e.- mental retardation), that I know of. They lead a normal life. I tell you this with some experience because both my mother and my father were carriers, had a normal diet and life and had me, a Classical PKU kid (now 28).
    I would still however, conduct Phe level checks when you do your regular visits (for shots and such – just request and do a blood draw for a phe level test, it’s cheap and the response will come back in about 7 to 10 days). Then the doctor then can confirm that your child is perfectly healthy and you can rest better knowing.

    Avatar of Breanna

    When two carriers have children together they aren’t necessarily guarenteed to have a child with PKU. They have a 25% chance of having a child with PKU. A 50% chance that the child will be a carrier and a 25% that they will have two normal genes, meaning they won’t have PKU or be a carrier.
    For example my parents are of course carriers like a lot of ours (we wouldn’t have PKU if they weren’t ). In addition to me having PKU I have two younger sisters who have PKU, but I also have four sisters and a brother who do not have PKU. So it’s hard to tell if a child will have PKU or not until they are born, even if both parents are carriers. The only way a baby is 100% guarenteed to have PKU is if both parents have PKU themselves.
    As for sjnicholls being concerned about possible mental retardation I think that was more because the babies mother had PKU. When a woman who has PKU is pregnant, they have to follow the low protein diet to prevent a lot of issues in the baby that high phe levels can cause (mental retardation, microcephally/small head, etc). In most cases pregnant woman have to follow a diet that is much more restrictive then they are used to, until the last trimester of the pregnancy like Meaghan said because by then the baby requires much more nutrients.
    So I think sjnicholl’s concerns were more focused on whether or not the mother not following her diet towards the end of her pregnancy will cause issues for the baby. Since the baby is only a carrier no further blood tests or follow-ups should be needed because carriers break down Phe normally.
    Take care! nBreanna

Viewing 6 posts - 1 through 6 (of 6 total)
Quick Poll
Which of the following best describes you?
Parent/caregiver of an infant with PKU
Parent/caregiver of a child with PKU
Teenager with PKU
Adult with PKU
Grandparent of a child with PKU
Know someone with PKU
Healthcare professional