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

#9216
Avatar of carrie
clenk
Member

 Hi! the ladies are right- the test for pku will likely return before you could get genetic testing done (which takes a few months i've heard). IT is likely that your child has pku if they have tested with a high phe level at the newborn screening. I had two girls who were fine before our little carolyn was born. At 7 days old i was told to go to the hospital immediately for more testing b/c they thought she might have pku. It was terrifying and she not only has pku but classical pku (the most severe form). However we learned how to do her heel pricks at home- did them every day for a long time and then every second day. She is now 8 months old and we do them once a week. She was rarely in range in the beginning- she was too high then too low and sometimes the adjustments to her formula (6 bottles a day of special pku formula) seemed to have the oppostie effect….but today she is almost always in range- two testign she was out of range in the last 3 months  i think and is a happy healthy little 8 month old baby who is crawling, pulling up, cruising and babbling with a few words sprinkled in and starting to wave bye bye!  It is a very scary time – but honestly it gets better. I spent the first few months scouring the internet for anything i could fin and wanted to know the future- and i have to say the future is friendly! 

This is a great site for resources. Where are you from? Good luck. 

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