Community Discussion Forum New to Adopted Child with PKU Reply To: Adopted Child with PKU

Avatar of Breanna

When two carriers have children together they aren’t necessarily guarenteed to have a child with PKU. They have a 25% chance of having a child with PKU. A 50% chance that the child will be a carrier and a 25% that they will have two normal genes, meaning they won’t have PKU or be a carrier.
For example my parents are of course carriers like a lot of ours (we wouldn’t have PKU if they weren’t ). In addition to me having PKU I have two younger sisters who have PKU, but I also have four sisters and a brother who do not have PKU. So it’s hard to tell if a child will have PKU or not until they are born, even if both parents are carriers. The only way a baby is 100% guarenteed to have PKU is if both parents have PKU themselves.
As for sjnicholls being concerned about possible mental retardation I think that was more because the babies mother had PKU. When a woman who has PKU is pregnant, they have to follow the low protein diet to prevent a lot of issues in the baby that high phe levels can cause (mental retardation, microcephally/small head, etc). In most cases pregnant woman have to follow a diet that is much more restrictive then they are used to, until the last trimester of the pregnancy like Meaghan said because by then the baby requires much more nutrients.
So I think sjnicholl’s concerns were more focused on whether or not the mother not following her diet towards the end of her pregnancy will cause issues for the baby. Since the baby is only a carrier no further blood tests or follow-ups should be needed because carriers break down Phe normally.
Take care! nBreanna

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