I get asked a lot of questions about PKU and while I am still learning the ins and outs myself, I am happy to share what I can and flattered that so many people take an interest. I'm going to do my best to answer some of the common questions I get.
What is PKU?
PKU is a genetic metabolic disorder that makes it so that Avery can't process the amino acid phenylalanine (PHE). Too much PHE builds up in the brain and can cause severe brain damage. However, with careful diet management, the PHE levels can be kept low so that Avery will not have brain damage and can lead a normal life.
Newborns are screened for PKU at birth because there are no symptoms of it and no other way to tell that a baby has it. I am so thankful for newborn screening because PKU is a rare disorder and we would never have known there was anything wrong with Avery until it was too late. Screening for PKU started like in the 1950s I think.
How did she get it?
Kyle and I are both carriers of PKU and each of us had to have passed the gene to Avery in order for her to have PKU. I take comfort in knowing that it's not just my fault she has it--it's Kyle's too! ;) Because it's genetic, each child we have will have a 25% chance of having PKU.
What is the diet like?
Right now Avery isn't even eating baby foods yet so her diet consists of a medical formula mixed with regular baby formula. The amounts of each are prescribed by one of three dietitians we work with (they are all on my speed dial) and we have to weigh them out in grams before mixing them. Her diet is often changing as she continues to grow and depending on what her recent PHE levels were.
When she starts eating solids, we will have to weigh each food before she eats it to make sure she is not getting too much PHE. The amount of PHE she can have a day will change as she gets older and is monitored by the dietitians.
She will not be able to eat high protein foods like meats, fish, dairy, nuts, whole grains... She will eat a lot of fruits and vegetables. I'll have to learn how to make low protein breads and there are low protein foods (pastas, cheeses, breads, cereals...) available to buy, although they are kind of expensive.
She will have to take the medical formula for the rest of her life in order to supplement the protein she is not getting from foods. The medical formula basically has all of the amino acids but PHE and she will get just as much PHE as she needs every day from the food she eats.
What if she eats something high in protein?
If Avery were to eat a high protein food, she wouldn't have any immediate reaction or anything. The effects are more long term so it's not the same as having a food allergy. From what I understand, if she ate something high in protein, she would then have to eat really low protein foods for a couple days (i.e. apples) to bring her PHE levels back down. As we're learning about starting her on solids, we are told that it is more important that she not eat restricted foods because then it will be easier for her to stay on her diet. She can't miss something she's never had!
If you think of a question you want to ask about PKU let me know!
I certainly don't know everything but I like questions and it helps me to learn too.