Community Discussion Forum New to PKU carrier gene test? Reply To: PKU carrier gene test?

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Hello AlanT,

First off, congrats on your new arrival :) I can certainly empathise what you are going thru. Lil Jacob was born at 28 weeks, and it was after his first few days, that we found out his results returned questionable. 2nd test also came back positive. So for us, this was simply something else added to the mix that we were concerned about when looking at our 2lbs 9oz lil guy!! 

As for Breastfeeding – He continued on breast milk as they monitored levels. We have been fortunate, that no diet has yet to be implimented, and he is almost 6 months old. He (so far) has been diagnosed with HyperPhe, which from what we read, was the best of the possible outcomes. However, his levels, have been sneaking up slowly, with no down turn as of yet.. so we are having to monitor him a lil more closely. We did have to go to formula when he was about 4 weeks old. There have been no restrictions to date, and he is developing lovely. His last check of Phe was 582, which was a concern, as our clinic implements restrictions at 600.

As for the test for you and your wife. It does take longer, much longer. I believe that the PHe test for us (in Canada) thru the infant screening program took 3-5 weeks. They have just gotten approval for the genetic test to find the exact strain he has, and the blood has been taken. It is our understanding this test goes to Denmark, and will take up to 6 months to return. Once they have his blood tested, they can proceed with Mom and in our case Donor, to find further particulars out.

Best of Luck, I found this site WONDERFUL for information. I am certainly glad to be Canadian as we have much more assistance then our neighbors to the south. Where are you located?


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