By Charlene N. Rivera-Bonet | Waisman Science Writer
One particular thing about being the first is the unknowns that come with being the first. It’s filled with uncertainty about what’s next because it hasn’t been explored or done before. For Kay Emerson, that was a scary thought growing up. She was the first person in Wisconsin and one of the first in the United States to be successfully treated for phenylketonuria (PKU), a condition in which the body fails to break down the amino acid phenylalanine, causing a buildup. Left untreated, PKU can lead to severe intellectual and developmental disability, seizures, and other health problems.
“What’s going to happen? Do [doctors] know what they’re talking about? Am I going to have something go wrong when I get old?” Kay thought. But there was no way of knowing then. “Well, I am old now. So, I don’t worry as much about that anymore. But in my 20s I was terrified.”
Kay, who passed away March of 2025 at age 67, used her experience with PKU to help others with the condition.
When she was eight weeks old, she was referred by her pediatrician to Harry Waisman, MD, PhD, whom the Waisman Center is named after. Waisman was a physician scientist with expertise in PKU. He was a strong advocate for early detection of PKU and knew if treated early, it could significantly improve the health outcomes of those who had it. He became instrumental in initiating the screening and testing of newborns for PKU in Wisconsin. Today, PKU is routinely tested for as part of the national newborn screening panel.
Kay’s older brother Keith Mueller was also born with PKU but not treated in time, which led to severe intellectual disability. She had another older brother, Scott, who did not have the condition.
The Waisman Center Clinics follow individuals with PKU across their lifespan. Kay and her family used to travel once a year from Washington, D.C. to Madison, Wisconsin for her appointments in the center’s Biochemical Genetics Clinic until they eventually moved to Wisconsin. The Waisman Center became her go-to place for information. “If I needed to know anything, all I needed to know was come here,” Kay said.
Dr. Waisman, even after his death, held a tremendously special place in Kay’s life. “Everything in my life, I owe to him,” she said. On special occasions, like her graduation and her engagement to her husband David Emerson, she used to visit Dr. Waisman’s tombstone to tell him about her big life updates.
Dr. Waisman and others developed a dietary approach to preventing the negative effects of PKU. The treatment for PKU includes a low-phenylalanine diet and taking a supplemental formula that ensures enough essential proteins and nutrients are being consumed. Much has changed since, but back when Kay was growing up, the options were scarce. She was pioneering this treatment, which meant not much was known, and very little options had been explored yet. It was not an easy diet to follow. “I was always joking about my diet,” Kay said. Rice puffs and Rice Chex were popular items in her meals. “And then, not sure what year it was, maybe 1965, Bugles came out. That was the biggest thing in the world,” Kay joked.
Kay’s mother used to describe the first formula – a mix of vegetable oil, sugar, and water – as “foul-smelling.” Kay was not a big fan of it during her first few months of life, and struggled to gain weight. By the time Kay was six months old, a new one was developed. Kay was fonder of that option.
Kay, who kept journals of her journey since she was a child, has an entry journal that reads “How did mom do it? How did she make the formula taste the same every single day?” Because as much as she tried, she could never get it to taste as good as her mom did. But as she grew older, she became more of an expert on the foods she could eat, and recipes she could make that would be both safe, and enjoyable.
A lot has been learned about PKU throughout the years, with new and improved diets and formulas that provide more options to individuals with the condition. A big part of Kay’s life was dedicated to helping others with the condition stay on the diet. Kay herself, having broken the diet three times, and coming back to it for good in 2011, knew that it could get challenging to follow. Breaking it, however, can lead to problems with attention, concentration, and memory. Because of this, she created a Facebook page called Kay Marie’s PKU World, in which she shared PKU-friendly recipes with her followers.
Kay obtained a degree in special education and worked as a teacher for many years. Following Dr. Waisman’s steps, she was also an avid advocate for PKU since her teenage years. She started by giving presentations in school about PKU, sometimes even bringing in the formula for her peers to try. “The kids just got in line. They couldn’t wait to taste it. It’s something a lot of people don’t like, but these kids loved the idea of something different,” Kay says. In her adult years, she traveled around the United States telling others about her experience.
Kay Emerson was proof of the impact of Dr. Waisman’s work and advocacy for individuals with PKU. She was a pioneer that led the way for people with PKU after her through education about PKU, and the sharing of recipes that they can incorporate into their diets. She faced what once filled her with fear, being the first patient treated in Wisconsin and not knowing what the future held. She faced it with courage and selflessness, having a positive impact on those with PKU that she met.
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