Community Discussion Forum What’s the Phe? Late Diagnosed PKU on my baby cousin

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    Avatar of Kayihan

    Hello guys, I am new here. The other day, I just learned my baby cousin (3.5 years old) just got diagnosed with PKU. Yes I know, wasn’t blood taken at birth? Well the answer is, it was but there was a mix-up and hospital error and nothing came back until recently when they did a blood-test on him. He has not started talking yet and some other things caused his parents to bring him to a doctor, after a whole line of tests this came up by luck. Unfortunately due to the protein build up in the 3.5 years there has been obviously some brain damage. (Now its clear, why he started walking late, is still not talking etc..) My question is, to what extend is the brain damage? That is the main concern right now, next to the diet that he is trying to get used to. All of his favorite stuff, he cant have anymore. If you guys can post some information that I can use I would really appreciate it. Any other info would be extremely helpful as I do not know alot on this rare issue. Thank you very much.

    Avatar of Breanna

    In all honesty I’m not sure how things will turn out for you and your family. I know of some people who were late diagnosed by 6,7 and maybe 8 years or something greater and some of them are doing fine today. Then again I know others who were diagnosed late and are not doing so great. But please don’t panic because I’m not very familiar with all of this (late diagnosis I mean) and there is always hope!
    I think the main concern right now is just get him on the diet, drinking his formula (which I’m assuming his is on?) and taking blood tests. With time things will get better and he will eventually get used to this lifelong diet, but I won’t lie it is going to take him some time. I wish you, your cousin and family the best of luck with this! Hang in there and if you ever want to talk I’m here! nBreanna n16 CPKU

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