PKU.com Community Discussion Forum Parent support Don’t know where to put this…

Viewing 8 posts - 1 through 8 (of 8 total)
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  • #5992
    Avatar of Alexander
    krisalex216
    Member

    Hi, my name is Kristen. nMy husband and I got a letter in the mail today talking about a new medication for PKU patients. The thing is we were never told before that our son was PKU positive. He is now 5 years old. We don’t know what to think. Now I know that it could be a mistake and names could have gotten mixed up. Believe me we are hoping that is the case, and if it is I am sorry, I am just trying to find some information and you guys looked the friendliest.
    If they aren’t wrong, and he does have this condition, what do we do…
    Thanks for listening.
    Kristen

    #5993
    Avatar of Breanna
    BreaMarie91
    Member

    Kristen,
    I would highly suggest taking your son to your family doctor and requesting some tests done. The test that you would most likely need done is the newborn screening which your son would have gotten when he was a baby. It’s just a simple prick of the heel (in his case since he’s older it will most likely be the finger) and a few drops of blood.
    If there is any number, address, email address etc on the letter you recieved then maybe you should contact them to see what the letter is all about. If your son did have PKU then I would think that you would have noticed some issues earlier like poor concentration, lack of energy, headaches, but most importantly most likely if he had PKU and was untreated he would probably have learning problems or be developmentally slow.
    If he does have PKU maybe he has a very very mild case of what is called hyperphe…I guess that is possible. But most likely if he did have PKU he would need to be put on a special low protein diet (meaning no meat, dairy, very little grain, no beans, nuts etc), he’d have to drink a special metabolic formula to get nutrients and he would have to take regular blood tests to check how much Phenylalanine is in his blood. But please, I would suggest contacting your family doctor and talking to them about this because if he does have PKU and is five this would be something you would need to look into right away.
    I hope this helped alittle bit. nBreanna n16 with Classical PKU

    #5998
    Avatar of Keisha
    kmariewood
    Member

    Hi Kristen
    I find it very interesting that they say your son has pku and he is 5years old.Is he ok, does he have any problems that may be pku related? what kind of study is it? where do you live? nKeisha

    #5999
    Avatar of Alexander
    krisalex216
    Member

    Hi, nThanks for responding. I was getting kind of worried that I scared you all off. LOL He seems to be ok, there are a few little things that we have noticed, hyperactivity (some people have said it’s not ADHD…but they don’t know what it is), the musty smell in his sweat and urine, there was something else too I’m sorry I just don’t remember off the top of my head. Everything is such a blur right now, and the fact that we got this letter and never knew anything about this is really making us wait until we can call someone on Monday to get some answers. They may have gotten a list mixed up, and have gotten people worried wrongly. I just don’t know what to think.
    The letter says they are participating in a new treatment program using medication called Sapropterin. We are in Ohio.
    Thank you again for responding.

    #6000
    Avatar of Keisha
    kmariewood
    Member

    Hi Kristen,
    I could only imagine how worried you and your family must be . Its hard enough finding out your son has pku when they are born. it seems really strange that you would only get a letter about pku now, Did your son get a heel prick test done when he was born?
    keisha

    #6001
    Avatar of Alexander
    krisalex216
    Member

    [FONT=Arial][COLOR=purple]See that stuff we are unsure on, he was premature and wisked off to children’s before we even had a chance to do anything. The way the letter looks, it seems as though they think he was and is positive or they have him mistaken for someone else.
    We’re calling first thing Monday morning.

    #6003
    Avatar of Breanna
    BreaMarie91
    Member

    I’ll be crossing my fingers for you. Hopefully this will all just turn out to be a mix up in mailing addresses. nBreanna

    #6006
    Avatar of Alexander
    krisalex216
    Member

    Well, I thank you both for your time and words of support. We found out about 15 minutes ago, after calling at 8am this morning that it was a mix up in the names. We have also requested a copy of the negative results from when he was born.
    Thanks again for listening to me. And I wish everyone the best of luck. Take care of yourselves and your loved ones. If I run into anyone who needs this site I will surely recommend you all.
    Thanks Again, nKristen & Jacob

Viewing 8 posts - 1 through 8 (of 8 total)
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