Community Discussion Forum Parent support Infant “Puffiness”

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    Avatar of Tanya

    Hello :)

    Jake is doing well over all. However, lately has developed a puffiness in his feet, legs, and genital areas. Part of this is due to a small hole in his heart, they are monitoring this. However, today the doctor was saying that his protein in his blood was low, which can also lead to the puffiness. We questioned how the protein could be low, however his pku levels have him about 347 (as of the 16th of June). How can they be high…and low??

    We asked if this was a result, or effect of the PKU issues he is having, and he admitted he wasn't exactly sure, and wondered the same. He is hoping to reach one of the specialists working on his case at Sick Kids for more clarity. I asked if its a different type protein, and he said its possible.

    I was thinking I was understanding how PKU worked, and what when with it, but just like that, Im baffled again :(

    Can anyone lend insight while we wait for our next doctor visit.

    Does it make sense to anyone to have low protein in the blood, but still have high levels?
    Has anyone elses child experienced this puffiness?

    Jake is now 5 weeks old, and had he not yet been born, would be 33 weeks gestation, if that makes any difference to those answering :)

    They also did a urine test to ensure there was no protein in his urine, and it came back fine.


    Avatar of Keith

    I have no idea about the puffiness but i can tell you i am one of those kids that is not normal.

    Just recently I got nervous at work as i get stressed out and ina big group. I start to heat up and feel like i am going to blackout or pass out they feel the same to me. The only difference this time is i didnt blackout but the right side of my face was so red that it felt like someone was burning me. They asked if it was a sun burn but i wasnt outside all day and i knew it was because i was getting pressured to talk to people with others around which increases my nervousness and increases my internal temp.

    I now have twitches in the area on my face that was beat red and have had them off and on since friday. i am worried i am getting worse. I am not sure about my protien levels but like you said with PKU it is hard to follow has most if not some of the doctors still do not know what is going on.

    Avatar of Tanya

    Just a quick update, for anyone who may be reading along, and going thru the same.

    Nothing with the puffiness has been attributed to the PKU. Seems it is more likely the liver not functioning at full capacity, and this is not likely due to anything more than his prematurity. They are checking lympademia and a few other things, but feel confident on liver.

    All the best,



    u know prematurity can cause a PKU test to come back as a false positive, did u get it rechecked?

    Avatar of Tanya

    He was born May 23rd. His pku levels at the start of June were 317, they went up to 347 when tested June 16th. They retested them on Tuesday but we are waiting on those results. It seems like they are leaning towards HyperPHE as his diagnosis…but they are also waiting on a urine test for more information. (From what we are being told)

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