Community Discussion Forum Parent support Late diagnosis

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  • #5259

    Ive been reading all the stories, but wonder if there are any ppl out there who had a late PKU diagnosis. My baby was born in Mexico, and they dont know hardly anything about that here, so she got diagnosed late.

    Avatar of Breanna

    Is your daughter okay now? I know that being diagnosised late can have some effects, but is she doing okay now?
    Anyway, yes there are some others out there who were late diagnosised but it is mostly adults who were born before the newborn screening became required in about the 60’s. By the way my name’s Breanna, I’m 15 and me and my 8 year old sister have PKU.


    she was 12 months


    she is developing slow. Getting better, but shes not walking or talking yet. Shes one and a half

    Avatar of Breanna

    I’m sorry to hear that, but I’m sure with time things will get better! Do you have acess to formula, low protein foods ect? I know some people don’t because insurance won’t cover it which can make things harder. I hope things turn out okay! nBreanna


    I have formula. Hey, what do you do if you get sick? LIke a cold?

    Avatar of Breanna

    Usually nothing different then you would do with any other child. Although I do tend to drink alot more of my formula but that is only because when I’m sick I can’t keep anything else down.


    What formula do you drink and how much? By the way, whats life for you with your friends? Is it hard for you when they eat?

    Avatar of Breanna

    I drink the PKUexpress coolers (they’re already made in little juice pouches). I’m supposed to have atleast 3 a day, but I average about 4 or 5.
    It’s not really hard for me because all of my friends know about my PKU and it’s just not an issue. After living with PKU for 15 years it’s just become apart of my life. After all I’ve never tried things like meat and other things my friends eat so I don’t miss it. I just tell my friends, someone who has never had sushi isn’t going to miss it, and I’ve never had some foods and I don’t miss them. When I go places with my friends I just make due with what I have, if there isn’t something for me to eat (which is rare because I can usually find something) then I just deal with it. It’s not going to kill me if I don’t eat exactly like everyone else, after all there aren’t 2 people in the world who eat exactly alike anyway.


    Youre wise beyond your years. God bless you forever.

    Avatar of Ellen

    hello Michelle,
    my twins are now 1. they were diagnosed when they were 3 days old. They don’t walk.. AT ALL… they only started crawling 1 week before thier 1st birthday. They don’t really say much, and thier levels have been perfectly fine this whole time. I have 5 children altogether, only the twins have PKU, each child has developed completely different. My middle developed much at the same pace as the twins and your child. Your child will be perfect and you’ll notice that your child will be smarter and faster in different areas.

    Avatar of Breanna

    I just wanted to say, I’m sure that your children sound like their doing great. As long as their levels are where they need to be then them not walking yet is probably just because that is how they’re normally developing. When I was 2 days old my mom said the doctors had her bring me into get the new born screening test done again. She said they told her they lost the test, but to this day she is pretty sure they wanted to just redo the test to confirm the PKU and they told her they lost the test so they wouldn’t scare her. I was finally diagnosised at 4 days old and my little sister was diagnosised at 6 days which are both about around the usual time kids are diagnosised with PKU.
    Michelle’s little one was an acception where PKU wasn’t diagonsised shortly after birth but her baby girl will still be fine. And I’m sure with the correct diet and levels she will grow up to be a smart kid.

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