Community Discussion Forum What’s the Phe? Mom needs suport and answers

Viewing 9 posts - 1 through 9 (of 9 total)
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    Avatar of Rena

    My son is 8 weeks old and I was just told he has PKU. He doesn’t show any of the classic symptoms except a little eczema. Is this normal? I’m so confused. How can he be so healthy yet test positive. he is growing and learning at a normal rate. He was born weighing 7 pounds 9 ounces and now weighs almost 13 pounds at 8 weeks. He is batting and reaching for things, smiling, and cooing. Also I’m looking for someone in Oregon who specializes in PKU patient treatment such as dieticians and doctors. If anyone has any info on providors in Oregon please post it here. nThank you!

    Avatar of Breanna

    Hi Gakette,
    Do you know what type of PKU your son has (ie Classical or Hyperphe)? Because depending on which case he has he may still be responding normally because he is allow more Phe then others so he might be getting the right amount (I’m not sure what you all know about PKU).
    I know that also the syptoms of untreated PKU sometimes take awhile to show up. So he might not show signs yet but if his PKU would have been caught you probably would have started seeing things. I know of a website that has lists of Clinics that treat people with metabolic disorders so I’ll figure out what the website is again and then I’ll post it here for you.

    Avatar of Breanna

    Okay I found this site, I’m not positive how updated it is but I’m guess it has been updated within the past year. Just go here and find your state and it should tell you where clinics are in your state.

    Avatar of Brandolin

    Okay trust me I completely understand all the confusion that is going on in your mind i’ve been there with my son but seriouslly if your child is 8 weeks & still hasen’t started his diet you need to do something asap… Liem contact your local childrens hospital. While ur online seeking advice your son’s brain is in danger.

    Avatar of Breanna

    Although Brandi is right, you probably should go and start getting help, you also should try to take sometime to calm yourself and realize that everything will be okay! I’ve talked to my Geneticist, Genetic counselor and Dietitian alot about things like this (as I want to be a medical Geneticist someday) and from what they said serious damage doesn’t begin until about 6 months of age. That doesn’t mean at all that being on the diet isn’t important until 6 months because it is very improtant don’t get me wrong! I’m just saying don’t panic, I have met a women who was not diagnosed until about 13 months I think and as a child she was suffering but to this day she is doing wonderful! I have also met others who were diagnosed later then 8 weeks (mainly adults) and until they told me that they were late diagnosed I had no idea.
    Just make sure you get the help for your baby that you need, and try to keep in mind that no matter what happens everything will work out in the end. Also, you getting support is a wonderful thing to do! Sometimes when people are confused and scared the best cure is getting support and help because sometimes you just don’t know how to handle things on your own! Just support your baby while growing up and make sure to empasize how important the PKU diet is and things will fall into place. nBreanna n15 w/CPKU

    Avatar of karan

    Don’t sweat the small stuff!!! Your son’s only 8 weeks old. I wasn’t even diagnosed until I was 8 years old. Yes, I had problems and wasn’t even put on the diet until 3 years ago. Today you’d never know I had any problems. Get him on the diet and keep him on the diet and he’ll be fine. The important thing is to get him on the diet early and make sure his levels stay where they need to be. You’ll do fine You’ll find it’s not nearly as bad as you think.

    Avatar of Meaghan

    Jusy because your child has PKU doesn’t mean that he is going to have problems. I never had any problems and grew and developed normally. Every person is different but make sure you get him on the diet/ medicine ASAP. Best of luck to you!

    Avatar of Momofadyangel

    Gaskette, nEveryone right you do not freak out. nMy pregnancy with my little angel was my third pregnancy. Its was almost too perfect my doctor was amaze no swelling ,right weight gain,low blood pressure all through the stess of finding out my middle child is austic. Addy is a healthy baby who weighed 7lbs 12ozs at birth now at 6 weeks weighs 10lbs 8.5 ounces. She started to sleep through the night at 3 weeks. My husband and I were like you were very shocked that our perfect Addyangel had PKU and that her numbers triple in matter of days. Your child may have PKU but is special in a certain way. nMom of Addyangel

    Avatar of Tim

    Though I am sure you have resolved this by now – I just want to add that if your baby had / has CPKU it is very important to get on diet immediately!! No need to panic might be okay to say – but you certainly MUST have a sense of urgency on this.
    CPKU is what my son was diagnosed at 8 days old and his levels were aleady at 22 when we arrived at Shands Hospital in Florida on his 9th day.
    The doctors told me to leave my conference in New Orleans and to be at their clinic the next day!
    I am confused at how your baby was diagnosed at 8 weeks – but again – it may not have been CPKU – and that is the reason – but leave nothing to chance.
    Your pediatrician is usually the one to call you once notified by the State Lab where the newborn screening is done?
    Hope all is going well with your little one!
    TC – Father of “West” w/ CPKU (3 years old)

Viewing 9 posts - 1 through 9 (of 9 total)
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