Kala Mcwain’s three-year-old son, Braxton, was diagnosed with phenylketonuria (PKU) at birth.
Ever since, she is constantly worried about ensuring he gets the right kind of low-protein medical foods and metabolic formulas. In parallel, she is a very vocal and active advocate for implementation of insurance coverage—both public and private—for these formulas and medical foods, working behind the scenes to pass the Medical Nutrition Equity Act.
This is the story of a mother, who was motivated by her son’s basic nutritional needs, and is now an advocate for making medical foods affordable for all those who need them. But first:
What is PKU?
A genetic disorder, PKU is characterized by the build-up of an amino acid (which make up proteins) called phenylalanine, in the blood and brain. Phenylalanine is not made by our body but is sourced in the food that we eat. A manageable disease, about 1 out of every 10,000-15,000 children in the U.S. are diagnosed with PKU.
Typical Symptoms
A musty smell may be a sign of undiagnosed PKU in children. In the absence of treatment, PKU can lead to neurological problems such as epilepsy, tremors, and jerking movements of the limbs. PKU can also affect the skeletal system and patients may have a short height, flat feet, or a small head. They may also suffer from eczema and have severe learning disabilities.
However, on-time diagnosis and treatment can ensure that children are able to lead a normal life.
Treatment
The National PKU Alliance has summarized the dietary and medical guidance for PKU treatment and management. The primary treatment is a diet that has low phenylalanine, with or without a medical treatment. Dietary regulation aims to:
- Prevent accumulation of phenylalanine in the blood and brain
- Replace restricted proteins in the diet with synthetic proteins, protein substitutes, or an amino acid mixture
- Ensure normal growth and nourishment
This infographic provides a quick overview of a recommended balanced diet for those diagnosed with PKU. The general recommendation is to avoid high-protein/amino acid foods such as:
- meat, chicken, fish, eggs, cheese derived from animal milk (cow, goat, and sheep)
- nuts, seeds, quinoa, wheat, oats, rye, barley
- soya, tempeh, pulses/lentils
- gelatin and plant algae such as spirulina
- aspartame (sweetener)
Additionally, age-appropriate metabolic formulas have been developed for infants, children, and adults with PKU to supplement their nutritional needs.
A Life-Changing Condition for the Entire Family
Kala shared a detailed view of how her family has adapted to support Braxton’s needs.
While there’s always the daily measuring and diet tracking, enjoying social gatherings is challenging. “People living with PKU have access to only about 20% of grocery store shelves, and most of that is fruits and vegetables. So simply going out to eat or to a birthday party is overwhelming at times because you have to plan out every single thing that your loved one is going to eat, and you have to make sure they have a birthday treat that they can still enjoy.”
Attending any social event requires planning and coordination with the host, but Kala always carries an approved bag of snacks for emergencies. Family trips and vacations also require careful planning—making sure they pack enough formula and low-protein medical foods for the entire trip, that there’s access to whole milk, and a gram scale to carefully weigh out Braxton’s foods and powdered formula.
Kala is a little anxious about her ability to safely control her son’s diet when he starts preschool. “It will require a very open and honest line of communication with his teacher, a bag of approved low-protein snacks in the classroom, somewhere for him to store and access his metabolic formula, etc.”
Variable Insurance Coverage for Medical Foods and Formula
Medical foods can prove expensive, especially if you have to cover 100% cost out of pocket. Although the numbers may vary, the average annual cost of low-protein medical foods and formulas can be about $10,000. Kala’s insurance plan covers the metabolic formula, minus the deductible, but the low-protein medical food is not covered.
“As a community, coverage for metabolic formula and low-protein medical foods varies greatly, and coverage for metabolic formula is never guaranteed,” Kala told Patients Rising. “You would be lucky to find a patient that has low-protein medical food coverage.”
Protection for federally mandated plans under the ERISA legislation means coverage of metabolic formula could stop at any time because self-funded health plans do not have to abide by state rulings. Currently, 39 states have mandated coverage by private insurance for some form of medical foods. However, according to Kala, state mandates are only useful to those who are on state- or government-funded plans like Medicaid. To overcome this barrier, some states have established programs that provide metabolic formula and some low-protein medical food options at no cost. These programs rely on state funding and are not guaranteed year to year.
Advocacy to Implement Federal Policy Changes for Medical Foods
Kala partners with several advocacy organizations, including the National PKU Alliance, where her efforts are primarily focused on the passage of the Medical Nutrition Equity Act (S2013/HR 3783) and to empower others to share their stories. HR 3783 is intended to provide coverage for medically necessary foods, vitamins and individual amino acids for digestive and inherited metabolic disorders, such as PKU, within federal health programs and private health insurance.
She also works as Wyoming’s genetics navigator with Mountain States Regional Genetics Network, where she assists families and providers in finding support, resources, and possibly genetic testing. Additionally, as a Family Leader at Uplift Wyoming, Kala reviews and provides feedback on materials from the Title V Maternal and Child Health, Department of Public Health.
At home, she is preparing Braxton to be self-sufficient. “I do my best to empower and educate my son about his disease, by including him in making his formula daily and cooking. PKU does not define him, and I want to make sure he has the most normal school experience he can get.”
From the Editor:
A very special thank you to Kala, Braxton, and the whole family for sharing your story with us.
Surabhi Dangi-Garimella, Ph.D. is a biologist who provides writing and strategic support to non-profit groups via her consultancy, SDG AdvoHealth, LLC.
