Son PKU Carrier

Son PKU Carrier

Avatar of Marni

Son PKU Carrier

July 16, 2010 in Uncategorized

Hi Everyone, I am new to the PKU.com site. My husband and I are fostering-with-a-view to adopt a little boy. He is 17 1/2 months old now. Jake's biological mother is a non-compliant PKU individual. She is quite slow. When she was pregant, her pregnancy was monitored at a very reknown city hospital... However, it would have been very difficult to monitor this lady's diet 24/7. Jake was born with microcephaly (smaller head) and has difficulties with his muscles. Fortunately for him he doesn't have PKU, but is a carrier. I took him to a Pediatriation today who thinks it's possible that Jake could have CP or autism. It's too early at this point in his life to tell. Jake has stiff muscles in his legs and hands. His core is weak. He is developmentally delayed. None of this bothers my husband and I... We love him and intend to adopt him no matter what his health issues are. Obviously when a non-compliant PKU mother has a baby, she puts her unborn child in peril. Does anyone know what the potential health issues are to a child born to such a person? Any observations or facts you know are appreciated. Sincerely, M

8 Reviews of Son PKU Carrier

  1. Registered: Apr 13, 2010

    Posts: 0

    plant city, Florida

    i just looked this up ….. The characteristic features of maternal PKU syndrome include mental retardation, microcephaly, intrauterine growth retardation, and congenital heart defects. The risk for these defects is approximately 90%, 75%, 50% and 15% respectively, in infants of mothers with untreated classical or atypical PKU (maternal plasma phenylalanine levels >20 mg/dL)…….. Research showed that women with PKU who are not on a controlled diet prior to conception are at risk for having babies with mental retardation, congenital heart defects and other serious problems (even though these infants usually do not have PKU themselves)…….
    …….If the maternal PKU is not controlled, the baby (who does not have PKU) is at risk for congenital heart disease, growth retardation, microcephaly (abnormally small head), and mental retardation.

  2. Registered: Sep 12, 2006

    Posts: 0

    Franklin, Wisconsin

    As you mentioned microcephally is a symptom that can occur in infants born to women with poor dietary control during pregnancy. Other issues include congenital heart defects, developmental delays, premature birth, and low birth weight.

  3. Registered: Apr 24, 2009

    Posts: 0

    Cornwall, New York

    you have the explanations below.. I just wanted to say god bless you and your husband for helping this boy… you are truly an angel to him… as an educator to special needs kids, I would suggest keeping detailed observations (written down) by yourself and anyone who has contact with him… this will help when you go to the doctors as you can give him any behaviors he might display… I’m thinking more with the possibility of autism

  4. Registered: Jan 16, 2009

    Posts: 0

    Walkerton, Ontario

    Thank you all for your answers. I forgot to mention that Jake was also born with a cleft palate. (Not a major one… just inside the roof of his mouth.) He had surgery to repair his palate when he was 13 months old. Cleft palate and cleft lip are the most common birth defect. Jake’s mother was also a smoker so this would also contribute to his small size and the palate issue… Or it could be just the fact his bio mother’s diet wasn’t under control.
    So, I’m always taking the little guy to the doctor’s. He is seeing the best doctor’s available… so I have faith that he may surprise a lot of people someday… I am sure there are some who might pigeon hole Jake because of how his bio-parents are. Nature vs. Nurture. ;-)
    Thanks Katie, I will make notes of my observations of Jake…. He is developmentally delayed at the moment… but that’s okay. So far we’re lucking out with the heart issue. I hope it stays that way. Jake loves watching Backyardigans on tv…. and has huge belly laughs during the funny scenes in the stories. He does have a great sense of humour…
    I am glad I found this site… It’s great conversing with people about this issue. Before Jake came into our lives I didnt’ even know what PKU was.

  5. Registered: Apr 24, 2009

    Posts: 0

    Cornwall, New York

    He is very lucky to have such great parents!

  6. Registered: Jan 16, 2009

    Posts: 0

    Walkerton, Ontario

    Excuse me “Itsmytimenow”,

    I am sorry if I affended you. I certainly didn’t mean to come across as bashing my son’s biological parents. They are the way they were because of their own parents. They themselves can’t be parent’s because of their parent’s and that is very sad. Jake’s mother’s parent’s didn’t keep her on the proper PKU diet from the time she was little on. I don’t know why… perhaps poverty… ignorance… lack of knowledge at that time about the importance of the diet… who knows.

    When I wrote on this blog it was because I am concerned about my son’s health and his future. Unfortunately, the brain damage to his bio-mom is done. She is a very nice person… Very kind… but would totally be an unfit mother because of her condition. It’s very sad really.

    I know that following the PKU diet… for a parent and child… is extremely difficult. I am lucky that Jake is only a carrier.

    Perhaps you shouldn’t be so defensive. I don’t believe I put down my son’s biological mother. I certainly didn’t say I was better than anyone else. I am a mother who loves my child and wants what is best for him. That’s all.

  7. Registered: Sep 12, 2006

    Posts: 0

    Franklin, Wisconsin

    Itsmytimenow, I don’t think rmarni’s intentions were to bash anyone. I certainly did not take offense to anything she wrote. Her son was affected by his biological PKU mother who did not have good dietary compliance throughout her pregnancy. She is simply looking for answers and trying to prepare herself for the challenges her little boy may face later in life. 

  8. Registered: Sep 20, 2007

    Posts: 0

    Woodbridge, New Jersey

    when i first read your blog i wondered what you meant by “noncompliant”. now that i know i just want to tell you that i was born before testing became mandatory and wasnt diagnosed until i was 5. when i was pregnent i told the doctor i had pku. she looked at me as if i warped into north afghanistan pig latin. she hadn’t even heard of pku! so maybe Jake’s birth mother had a doctor who was as clueless as mine was. by the way my three children and four grandchildren are all fine. Best of luck with Jake. i’m sure he’ll be a great blessing. 

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