Viewing 5 posts - 1 through 5 (of 5 total)
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  • #4561
    Avatar of Glaudine
    glaudine
    Member

    Hi, My baby started with seizures at the age of 15weeks. I have noticed some drooling a few days before but didn’t took any notice for he was so healthy and happy. We did an EEG taht came back with some abnormality of brain waves but the MRI were OK! In this time he also lost some control of his neck musles and struggled to get his head up. We are still waiting for some blood results but it take some time. He is six month old – with his seizures under control by medicine but his eyes keep on rolling to the side and I can see that he struggle to focus on me when talking to him. I suspect PKU but our Doctor haven’t confirmed yet. Is there any one with the same experience and also how can we test for this and also the name of the tests! Hope to hear from you soon!

    #4582
    Avatar of Charity
    Kami_s mom
    Member

    Hi, I have never heard of those kinds of symptoms with PKU. If you live in the USA there is a mandatory blood test done while in the hospital at birth that would determine PKU. PKU is not something that you see symptoms of until much later in life (like around school age). It is a genetic disorder that affects the childs ability to use phenalalaine (SP?) which affects brain development over time. Your baby has probably already been tested for it and you would have know if he had it. THe doctors were calling us in for more test within a week of birth.

    #4768
    Avatar of Breanna
    BreaMarie91
    Member

    glaudine, If you think your child may have PKU I would take them in and have them get the newborn screening done again just to be safe. I know seizures is a syptom of not treating PKU and the not being able to focus so I would say go get it check out. nBreanna

    #4774
    Avatar of Helen
    nelehic
    Member

    Kaitlyn’s grandma, If they have testing for newborns, why didn’t they detect my grand-daughter’s at birth. Her first symtom was she wasn’t growing very much and at 7 months old looked like a 3 month old, and at 8 months her body started shuting down and she slept all the time and wouldn’t eat.She stayed in the children’s hospital in St. Louis for nearly four months before they diagnosed her with pku. She is two and a half now and wheighs 22 pounds. Her medicine fomula is helping her control her pku.

    #6098
    Avatar of Meaghan
    mayrogers13
    Member

    the test wasnt made madatory until the early 1990’s but it is one of I believe 32 tests that are done when the baby is born and they prick their foot. It is a mandatory test in the United States.

Viewing 5 posts - 1 through 5 (of 5 total)
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