December 3rd is National PKU Day. PKU, short for phenylketonuria, is an inherited genetic condition in which the body cannot properly process the amino acid phenylalanine. If individuals with PKU do not get treatment, phenylalanine can accumulate to harmful levels, which can cause irreversible intellectual disability, seizures, developmental delay, and behavioral problems. However, with proper treatment these symptoms are avoidable.
We sat down with Kristi and her daughter Hannah, a college student who was diagnosed with PKU shortly after birth, to learn more about their journey with PKU, a condition that can be screened for with the Myriad Foresight Carrier Screen. #PKUAwareness
Can you tell us a little bit about your pregnancy and how you found out Hannah had PKU?
Kristi: Hannah is my middle child. During my first pregnancy, I read all the baby books. You read and it’s like, “chance for this genetic condition or that genetic condition is 1 in 10,000”, so I thought I’m not even going to read that page.
After she was born, I remember them doing the heel poke that they always do and knowing that it tests for different conditions, but not really paying that much attention to it or even worried about it, not expecting it to come back with anything. Then when she was about almost a week old, we were contacted by our pediatrician and told she might have this condition, PKU, and that we needed to come back and do a follow-up test. So at that point, of course, I thought “Okay, maybe I need to read about this.”
A lot of alarm bells went off as a parent, not knowing what to expect. Unfortunately, our pediatrician did not know much about PKU and did not do a great job of educating us. At this point, we’re just panicked.
She got tested again and we found out that she definitely had PKU. I just remember us being very scared at that time. We were in the process of moving and had a toddler and a newborn. Then, we met with specialists who work with patients with PKU all the time. They were wonderful and so calming. Right away, they said, “This is treatable. This is something you can manage.” They started educating us on what we need to do to manage Hannah’s PKU.
It sounds like having access to knowledgeable providers really helped.
Kristi: Yes. Right after I had Hannah, we moved to Washington. The clinic there was really great, really supportive, and really knowledgeable. They have a regular, once-a-month clinic where all the families come in. They would bring in teens and adults that had PKU. I think as we started meeting these other individuals that had been living their lives and families that had been managing PKU, it really helped us to be able to move forward knowing her life was going to be as close to “normal” as anyone’s is.
Obviously, you must manage it. That was definitely a learning curve. How do you handle birthday parties, preschool events, all of these things? Having that great clinic gave us a wealth of information on special recipes, things that parents had tried before us. So we always brought substitutions in, made her low protein versions of things. We always made sure she had something that she liked. We explained it to her: “There are people that have to eat a way because they’re gluten intolerant. There are people that have to eat a way because they’re lactose intolerant. There are people that have diabetes. This is just something that you were born with that we have to learn to manage so that you can grow up healthy and live a good life to your full capacity.”
How has having PKU impacted your life?
Hannah: Growing up there wasn’t a distinct moment where I knew that I had PKU. A memory I do have is during kindergarten, we had these long tables where everyone would sit and eat lunch. I had to sit at the front of the tables with the lunch ladies so they could watch me to make sure that I was eating the food I was sent to school with. I feel like other than that, there hasn’t really been that many moments where I felt different. Having PKU has been very normalized in my life. I tell people it’s kind of like having an allergy, but obviously slightly more severe in some ways. Having PKU is just a part of my everyday life.
You mentioned Hannah is your middle child. How did you use the knowledge that you and your husband are carriers for PKU in your subsequent pregnancy?
Kristi: We always thought we might want a third child. There are two years between Hannah and Chris, her older brother, and then there are four years between Hannah and Andrew, her younger brother. I think part of that was probably learning to manage her PKU, but also to give ourselves time to get to the point where we were comfortable with possibly having another child with PKU.
For us, it was never an issue of not trying again because after we’d had enough years with Hannah, we saw that this condition is manageable. This is okay. She’s happy and healthy and living a good life.
The important thing for me was I wanted to know once I was pregnant if the baby was going to have PKU. I wanted to be prepared.
With Hannah, I felt like one thing that was hard for me was that you have this brand new baby and you want to focus on bonding and being with the baby, and then you get this shocking news of her diagnosis the way I did and I felt it took away from some of that. Having a newborn is already stressful, and with Hannah, I was excited that I was having a daughter, and I just wanted to be able to focus on her as much as possible. Then all of sudden we’re thrown into this chaos of learning this whole new world.
So for me, having that knowledge was power. If I knew he was going to have PKU, I had a list of things to think about: Am I going to nurse? Am I going to do anything differently from the way we managed Hannah’s PKU after she was born? Let’s get in touch with the PKU clinic so we can be totally ready when he’s born. So, we did genetic testing and we found out that Andrew did not have PKU. It was nice to have that knowledge.
If you’re pregnant or considering growing your family, screening with Myriad’s Foresight Carrier Screen can provide valuable insight to help you and your provider plan and prepare for the birth of your child.
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