A Family PKU Journey from Diagnosis as a Newborn to Living as an Adult

November 30, 2023

December 3rd is National PKU Awareness Day, and Global Genes asked the National PKU Alliance and a member of their community to share their PKU journey.

by Suzanne Smith, PKU adult

What is PKU?

Phenylketonuria (known as PKU) is an inherited brain-threatening metabolic disease where there is an increased level of a substance called phenylalanine (Phe) in the blood. Phe is a building block of protein and is found in most foods. This is important because the damage caused by toxic levels of Phe in the first few years of life is irreversible. Many people with PKU can eat no more than 6 grams of protein a day.

In The Beginning

My family was introduced to PKU in early 1963 when my older brother Jim was diagnosed. He was 3 ½ at the time of his diagnosis. Because of Jim’s late diagnosis, he has experienced irreversible developmental delays. He was put on a very restrictive low protein diet. This was a difficult endeavor for my parents. Not only did Jim’s diet have to drastically change from unlimited protein intake to 6g daily, but the formula was also introduced (it was initially given as a paste to be eaten with a spoon). With the diet firmly in place, improvement was immediately observed. As a result, there was an understanding of the importance of adhering to the very restrictive PKU diet.

I was born later that year in December 1963. Because of my brother’s diagnosis, I was given daily blood tests to determine if my levels were elevated. On the first day, my level was at 2.1, the second day it had gone up to 5.8 and by day three it was up to 12.8. By day 3, it became clear that with the spike in levels that I also had PKU. At this time, I was prescribed Lofenalac formula.

**The newborn screening test was available in the late 1950s but was not universally used. At that time in Ohio, some hospitals screened newborns, and some did not. My siblings and I were born at a hospital that did not test newborns for PKU.

The Early Years

During the late 1960s and early 1970s, the predominate theory for treatment was that by the time a child turned 7 years of age, their brain was fully developed and it was possible to come off of the diet. As I was approaching this age, the clinic encouraged my Mom to do a more ‘liberalized’ diet. She fought the doctors and medical staff for many months because of the success of the low protein diet for both my brother and me.

Eventually, she allowed an increase in my daily protein intake. In a short amount of time, she saw changes in my behavior and ability to focus. This was confirmed when my teacher called to discuss concerns I was having at school. My Mom immediately called the clinic and put me back on the diet for good. As a young child, I understood the diet and could communicate it to others. My older brothers and younger sister made sure that both Jim and I adhered to the diet. They ensured that we ate low protein foods and made good choices. There were many situations in which I was offered high protein options and had to politely decline. The older I got the more difficult this became especially when spending more and more time with friends.

Older and Wiser

As we got older and wiser, we both understood the importance of a low protein diet for life. PKU treatments and products have evolved since the early years. Formulas and PKU friendly options have become more abundant and, in some cases, more palatable which is a true blessing.

Entering college in the 1980s, the on-campus food options offered were very limited. However, these years really shaped the rest of my life with
PKU. I was forced to independently manage my diet, talk about PKU to those around me, as well as advocate for myself when there were no food options available in the cafeteria.

At this time, I began to share my story through panel discussions with physicians and parents. I have also had the privilege of advocating for newborn screening with the Ohio Senate subcommittee. I am currently a mentor with the National PKU Alliance and have realized the benefit of connecting with others who have PKU. Hearing others’ stories, it is apparent that there are so many shared experiences which leads to instant bonds within the PKU community.

An Optimistic Future

It is encouraging seeing the amount of ongoing research that is being done with PKU treatments. Many of these treatments have the potential to be game changers for those living with PKU, and the National PKU Alliance is working hard to support crucial PKU-related research. I have been
fortunate enough to have benefitted from Palynziq, which is a newer therapy that allows me to follow an unrestricted diet. December 3rd is PKU Awareness Day, and my hope is that through increased awareness and research there will be a variety of treatments that will eventually lead to a cure.

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