Learning to Survive, Learning to Thrive: Hailey’s Journey with PKU
Jen Peters
We were finally home, enjoying our first Sunday morning together as a family of four. Hailey was just three days old and all snuggled up with her daddy. In between sips of {cold} coffee and watching Mickey Mouse Clubhouse with our then- two year old, Evie, I received a phone call from our pediatrician: “Hailey’s newborn screening came back as abnormal, suggesting she may have something known as phenylketoneuria, or PKU. We’ll need to have her come back up to the hospital for a repeat screening.”
The gut-wrenching, heart-sinking, I-don’t-know-if-I-should-cry-or-vomit feeling completely overwhelmed me. I suddenly had tunnel vision, everything around me became blurry, and whatever words coming out of my husband’s mouth were just muffled noises. Eric could see the fear in my face, but I couldn’t put it into words.
That phone call, those words, made me feel numb, vulnerable, afraid, and isolated. The days following that phone call, we visited the University of Iowa City Hospitals and Clinics and received a crash course in PKU. Phenylketonuria (PKU) is an autosomal recessive genetic metabolic disorder that reduces the ability to metabolize phenylalnine (Phe), one of the amino acids in protein. A build up of Phe can cause profound damage to the central nervous system. In the United States, PKU affects 1 in 14,000 babies. If untreated in newborns, PKU can cause irreversible brain damage within months. This requires a lifelong treatment of a very strict, low protein diet to prevent neurological and physical deterioration (PKUnews.org,2019).
This means Hailey, and others with PKU, are not allowed to have any meat, fish, dairy, eggs, or legumes (like peas, chickpeas, and peanuts). In addition to the strict diet, metabolic formula is required because it provides 80% of their nutritional needs. Regular blood testing is completed to help determine if Phe levels are within a safe range. These blood levels are tested two to three times a week in the first year of life.
Feeling overwhelmed yet? Yeah, we were too.Like most mom’s, I thought I had to do it all. Accepting help from others was incredibly difficult for me. In the first several months, I had an overwhelming feeling of guilt that because I “gave” Hailey PKU, I had to protect her at all costs, and I believed I was the only one that could. My mental and physical health suffered. Thank God we have incredible family and friends who were not only brave enough to bring it to my attention, they took my hand and gave me the support I needed. I started to realize the importance of taking care of myself. I began setting nights aside to spend with my girlfriends, I started exercising more frequently, and with the suggestion of one of my best friends (who happens to be a therapist) I started seeing a therapist. If I’m being very honest, that might have been the healthiest thing I had done for myself since having Hailey. Not only that, but we had our parents checking in on us daily, and most days they even stopped at the house to give us a mental (and physical) break. Our friends took a genuine interest in Hailey’s health. They researched, they asked questions, and even kept “Hailey approved” snacks at their houses. My aunt started researching PKU friendly birthday cakes when Hailey was just four days old (and then made one for Hailey’s first birthday)!
One of the most challenging parts of having a child with a rare disorder is having someone to relate to, know what you are feeling, or what you should be doing to give that child the same opportunities as others. My mother-in-law, Denise, gave me some of the greatest advice, “…raise Hailey just as you are raising Evie. Bring awareness to PKU but do not let it define her.” Denise raised Ryan (my brother-in-law), who has spina bifida, to not let his disability dictate his life. Ryan participated in everything he possibly could, did not put limitations on himself and went on to complete his Ph.D in English literature, amongst many other accomplishments.
Our genetics specialists, Judy Miller, ARNP and Cheryl Stimson RD, have been are backbone since day one. They were (and still are) our go-to girls for anything PKU related. Judy and Cheryl frequently checked in on us and could tell I was struggling. I had been so reluctant to talk to anyone with a child with PKU because I felt like nobody knew what I was going through (remember, I had to do it all)! But Judy and Cheryl encouraged me to talk with another mom. They put me in touch with a young mom, Brooke, who’s daughter Brynn (2) also has PKU. The first e-mail I got back from Brooke, I sat in Hailey’s room and sobbed, both tears of sadness and happiness.
For the first time in Hailey’s three months of life, someone had finally understood every single emotion I had since she was diagnosed. Brooke and I clicked instantly. Now, don’t get me wrong, Eric has always been incredibly supportive and {annoyingly} optimistic. But sometimes, moms just want to talk with other moms. And THAT IS OKAY! Brooke understood my struggles, my failures and my victories (like when you make a low protein food that your PKUer actually eats)! She has shown me the ropes of the PKU world whether it is recipes, Instagram posts, or possibly the most important element: the PKU community. Eric and I have both been a part of many different teams or communities. But we had never experienced anything like the PKU community. They are some of the most authentic, kind people in this world. We are a part of a couple different PKU Facebook groups and every single post I have seen is pure love and kindness. People post about their success, struggles, and failures and there is always an overwhelming response of support and kindness. In fact, at one point we were running low on Hailey’s (insanely expensive) formula and someone had posted they had extra. They didn’t want to be reimbursed for the cost of the formula but to just pay shipping. I messaged the woman and she shipped it to us. I asked her how she would like her money sent to her- and her response was, “Don’t worry about it! Just pay it forward next time!” Pure. Kindness.
One in 14,000 can feel unbelievably lonely and intimidating. But when you open your heart and hands to those asking to help you, that statistic does not hold as much value to it. I am a firm believer that if I would not have said, “yes” to those wanting to help, Hailey would not be striving and living like she is today. Our community, our village, has wrapped their arms around us and has not let go. I want to encourage any mom, (or dad), who is struggling, or feeling alone, please, ask for help. People want to help! Better yet, if you are someone who is noticing that a friend, or even a stranger, is struggling, reach out to them, offer your help. They will be forever grateful for your kindness.
