PKU Awareness Day 2024

December 3rd each year is National PKU Awareness Day. Today has already been a significant day of reflection for me and our family’s journey with phenylketonuria (PKU).

Two years ago, we were blissfully unaware of the existence of PKU as we waited for our fourth child to arrive. We had three children already who were generally in good health and needed minimal medical intervention or visits at all throughout the year. It was really easy then to overlook the advantage we had not having to argue with insurance companies and medical food suppliers every few months (or weeks) about getting necessary medications and medical visits covered. As time-consuming and draining being the caregiver for a child with PKU is, my biggest challenge has been medical equity and insurance overall. It has been a struggle to fight with insurance every few months to ensure that the medical formula needed for life continues to show up at our doorstep.

This PKU Awareness Day I want to not only bring attention to the existence of PKU and the amazing community that has come with it, but also the Medical Nutrition Equity Act and how necessary it is for communities like this one.

Aside from that though, let’s talk about PKU and how he’s doing with it.

PKU, phenylketonuria, is an inherited metabolic condition in which you are unable to process an amino acid in protein called phenylalanine. Both parents must have the recessive gene, and then each child has a 25% chance of having PKU in every single pregnancy.

Of our four children, we have no idea if any of them are carriers yet but we do know that Sambam has PKU. Also, fun fact, my genetic mutation associated with PKU that I passed to Sambam is actually associated with Classical (more severe) PKU while Joe’s is associated with Mild PKU.

He is doing pretty darn well with PKU currently, though. We had a rough patch with trying to get him to finish his formula each day, but a few drops of strawberry syrup and he asks for it now. He is doing well with low protein recipes and eating more fruits and veggies rather than wanting and asking for things he can’t have. He loves his vegan cheese. Blood tests are pretty hit or miss though. Some times he does really well with his finger poke and other times not so much. He should be starting Kuvan here soon and going up on formula per day. Fingers crossed we keep succeeding at finding new recipes on our own and using Cook For Love.

As always, feel free to drop your questions in the comments and Happy PKU Awareness Day!