Community Discussion Forum Parent support Possible PKU, One PKU Parent

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  • #8817
    Avatar of Brad

    OK here is the scenario, I have classic PKU, and my wife does not, but may be a carrier, we dont know.  She is pregnant, and we do not know if the child has PKU or not, but it is not very likely. 

    The question is, she wants to breast feed, and will try to do so very soon after birth, but what if the kid has PKU?  They said the test takes a few days to get the results back.  Is there any way to expedite this?  Anyone have expierence with this?


    Avatar of carrie

     A few things- first of all I believe that while pregnant she can be tested to see if she is a carrier (as far as i know it is a simple blood test) and then you would know for sure. Secondly- if you alert your doctor now and are willing to go to a nearby hospital that does the test i'm sure you can have the results same day. i know that here we were able to get same day results for those first tests after diagnosis as we tried to get her in range. Thirdly- it is my understanding based on the studies i've read that ideally treatment should start within the first 3 weeks- so a delay of 1-3 days shouldn't be a problem. 

    Avatar of Breanna

    People born with PKU have approximately a 1/100 chance of having a child who also has PKU. I do know PKU adults who also have children with PKU, but I also know plenty that do not have PKU children.

    Clenk is right that there is a blood test to determine whether or not someone is a carrier for PKU. However, my understanding is that the test is expensive. It would require a doctor to search for the PKU mutation. The problem with this is that there are over 500 PKU mutations, which as I'm sure you could imagine would make it difficult to know exactly what mutation the doctor needs to look for.

    As for getting your child's Newborn Screening results back fast talk to your dietitian. When my mom had her last two children she asked my dietitian to contact the lab that the results are sent to. My dietitian kept on the ball, and we had the results of my sister and brothers Newborn Screening by 4 days old and 3 days old. As it turned out my sister did have PKU, and she started taking Phenex 1 that day, because our dietitian had given us an extra case of it just in case (this also saved my Mom a trip to the hospital to pick some up). Even if the baby has PKU she should be able to breast feed if she wants. My Mom could not breast feed me, because that was the belief nineteen years ago, but she did breast feed my two younger sisters that have PKU, and they are doing great today.

    I hope this helps, and congrats on the new baby. Good luck :).

    Avatar of medina

      first of all ,  I hope your baby woudn't have pku . but if he has , don't be worry . breast milk is not bad for him . you

    should measure it and create a balance between it and formula .


    my 3 month old has PKU and we didnt find out for sure until he was 2 weeks old and hes doing well

    Avatar of carrie

     I talked to my team and if you think you are high risk what they will do is let the mom breastfeed for hours and then take a test (they need at least  hours to make the test reliable) and then do a priority on the test and start the baby on the formula (with mom pumping) for the  18 hours it takes to run the test and then when you get the results either continue formula/breastmilk combo if needed. 

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