Casper Mom Advocates for Medical Nutrition Equity Act for Son

Only four days after bringing our beautiful son, Braxton, home from the hospital, my husband and I received a devastating phone call. A nurse said that Braxton’s newborn genetic screening results showed that he has a rare metabolic disorder called phenylketonuria (PKU). Without severely limiting his diet to avoid protein, Braxton is at a high risk of developing serious health complications including seizures, neurological damage, intellectual disabilities, neurocognitive defects, emotional problems, and deficits in mental processing and social engagement. It has been more than two years since our family’s PKU journey began and, in that time, I have become a fierce advocate for my son and others like him as I work to build awareness of this disease and the importance of the Medical Nutrition Equity Act (HR 3783/S 2013) among Wyoming’s legislative representatives.

People living with PKU have a genetic defect that impacts the function of one important enzyme in the liver, and as a result they are unable to break down phenylalanine (Phe), an amino acid that is found in foods that contain protein including meats, breads, cereals and some vegetables. In infants, normal Phe levels are two milligrams per deciliter (mg/dL) or less. When Braxton’s Phe levels were tested at Children’s Hospital Colorado shortly after birth, his levels were about 29 mg/dL. . To reduce the risk of serious complications, PKU patients must adhere to a strict low-protein diet for their entire lives, which can be extremely difficult. There are also two currently approved therapies available for those living with PKU but they can present limitations thus new treatment options are needed

As is the case with many rare and chronic diseases, Braxton’s diagnosis was only the beginning of our family’s journey. We began meeting with nutritionists and metabolic specialists to find the right balance of breastmilk and medical formula to give Braxton to ensure his proper growth and development without allowing too much Phe to build up in his blood. We learned that even as an adult, he will need to supplement his diet with a medical formula that contains about 80% of the nutrients he needs to survive.

Braxton is only two years old, but as he has grown, we have quickly learned about the complexities PKU presents beyond dietary restrictions. His Phe levels must be monitored on a bi-weekly basis, which requires at-home blood draws to avoid going to the laboratory every other week. There are financial considerations – the amount of formula Braxton consumes in one-month costs about $1,000 before insurance. A box of regular pasta that the average person can eat costs about $1.50—a box of low-protein pasta costs about $13. Low-protein chicken and hamburger substitutes cost more than $30 and a two-pound bag of PKU-friendly flour costs $16. When the national formula shortage began this year, it presented yet another challenge for people living with PKU who rely on a special formula to stay healthy, putting many in desperate and dangerous situations. The formula shortage was another wake-up call for patients and affected families that diet management is not a sufficient lifelong way to manage this disease. The PKU community needs new management approaches and more treatment options.

There is ongoing promising clinical research and new potential therapies in development, which gives hope for the future of Braxton and others like him. Until the day arrives when more treatment options are available, my focus is on ensuring that people with PKU have access to the resources they need to survive. In 2021, I began publicly advocating for the passage of the Medical Nutrition Equity Act (HR 3783/S 2013), which would require public and private health insurance companies to cover the cost of important formulas and medical foods for people with PKU and other metabolic and digestive diseases. Recently, I was honored to have the opportunity to speak with important government leaders in Wyoming – Congresswoman Liz Cheney and Senators John Barrasso and Cynthia Lummis – to ask them to become co-sponsors of the bill. Our discussions were educational and promising. They showed me that I can make a difference in building broader awareness of PKU, -- the burden of disease and impact on patients and families – and I gained important contacts so that I can further my advocacy work at state and local levels. But my work is far from over; I will continue to fight for what Braxton needs throughout his life and speaking to government representatives at the state and local levels is just part of the journey in making a positive difference for the entire PKU community.

In the last two years, I have thrown myself into the PKU world, researching and learning all I can to help Braxton. It was overwhelming at first, and still is at times, but after finding others impacted by PKU it is helpful to know that I have other parents I can turn to for support. In any rare disease community, it is important to feel like you are not alone. To help, I started an Instagram page (@kayla_withoutthe_y) as an outlet to connect with other PKU parents and caregivers and it quickly became a tool to share recipes, tips, and struggles that our family experiences daily. I hope that my story inspires others affected by PKU to share their stories because our voices matter. Doing so might make a difference for Braxton and others like him!