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baby is born
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questions
The parents main question was, What causes the PKU mutation and how would their child be living? They learned that PKU was an inherited condition that keeps the enzyme PAH from not work as efficient as it should, this keeps it from making as much tyrosine as it should. The child would live a live with a particularly abnormal diet. -
Baby's parents find out their child has pku
The parents get a phone call, saying that their baby has PKU, their called in and given the details about what exactly PKU is. They learn that an enzyme that processes Phenylalanine (phe) does not work correctly in the child's body and that protein can harm the baby. If given too much phe it becomes toxic to the baby's brain and causes brain damage or even death. They also learn that PKU is inherited from the parents. Without treatment affects are Mental retardation and seizures. -
Parents learn what to give and what not to give the baby
The next day the parents are told that for years, the child will not be able to consume Dairy, nuts, meat and more. Usually parents are given a formula that helps the baby grow like normal -
The child is now 13 and is able to have dairy
Although the child still needs to formula it is able to have small amounts of dairy. The child is also slightly chubby. since they cannot have protein it struggles more with its weight due to the lack of protein -
The child is now 16 and can be taken off the formula
Although the child no longer needs the formula it still has strict diet restrictions. It still can only have small amount of protein (dairy) and cannot have meat. -
The child wants to join a sport
due to its weight it isn't in physical shape for it. The parents take the child to a children's hospital and learns about its options. Since the Child will need a higher protein intake. The family learns about KUVAN. KUVAN is a prescribed medication for people with PKU. it allows people with PKU to have a higher protein intake because it contains BH4 which boosts your PAH enzyme helping it better process Phenylalanine. which helps keeps PHE levels low, keeping protein from harming the child. -
The child receives its prescribed KUVAN in the mail.
Since PKU is a rare disorder KUVAN is usually shipped to patients. before received the child's doctor tells her to take 15 pills a day after eating. This allows her to have about 40g- 60g of protein a day -
The Teenager joins a sport
because of KUVAN and healthy eating and exercise habit the teenager is able to join a sport -
The teenager is now an adult.
Since its now an adult it is expected to learn how to take care of itself on its own. It takes its KUVAN on time on its own and lives about as close to a normal life as it can -
Sources
https://www.marchofdimes.org/complications/phenylketonuria-in-your-baby.aspx https://www.marchofdimes.org/complications/phenylketonuria-in-your-baby.aspx https://ghr.nlm.nih.gov/condition/phenylketonuria http://www.pku.com/about-pku/phe-in-the-brain https://www.ncbi.nlm.nih.gov/books/NBK22253/ I also asked my sisters pku doctor questions about this stuff, thats not a source i can site so.
