Living with Neurologic Issues

When I was born more than 30 years ago, I underwent typical newborn screening for certain harmful or potentially fatal disorders that are not otherwise apparent at birth. Much to my parent’s surprise, I was diagnosed with a mild form of Phenylketonuria (PKU) known as hyperphe. People with PKU can’t metabolize an essential amino acid called “Phe,” which is found in most foods. If these foods are consumed, Phe builds up in the blood and can be toxic to the brain. There are several ways for PKU patients to control their Phe levels, including a strict low-Phe diet and daily medicine. For certain patients, the combination of diet and medicine can help control Phe levels more than just diet alone. I learned how important it was for PKU patients to adhere to their treatment plan, as high Phe levels can cause severe cognitive complications, such as IQ loss, slower thinking, concentration problems and mental retardation.

From the time I was diagnosed, until the age of three, my parents kept me on a special low-Phe diet and a special formula to manage my Phe levels. At age three, my doctors performed several cognitive tests, and determined I no longer had PKU. They told my parents not to worry about it as I had outgrown the disorder. Today, doctors understand PKU better, and know that individuals cannot outgrow this genetic disorder.

I grew up not thinking about my Phe levels, as I have few memories from the age of three and my parents had no reason to suspect I was anything other than a normal, healthy boy. I struggled academically in high school, particularly in math and science classes, but I attributed those challenges to not being as smart as my peers.

My teachers would call my parents and tell them that I wasn’t trying hard enough. I didn’t know how to explain it to my parents, but I had a terrible time concentrating in class. They chalked it up to me being a teenager, and I thought I just wasn’t smart enough. I also hated to read. I just couldn’t sit down with a book.

In my late teens, I became interested in weight training and those involved in the sport stressed how important it was for me to eat a high protein diet. There were times when I would leave the gym after an intense workout, followed by a high protein shake or meal replacement bar, and become irritable and frustrated, often getting a terrible headache. Sometimes, I was so frustrated and shaking, I had difficulty stopping at red lights driving home. It was very upsetting because I couldn’t explain my change in mood, but I just didn’t feel right.

I graduated from high school and went on to receive my bachelor’s degree in communications from a small state school in New Jersey. Throughout those four years, my academic struggles continued, but again, I continued to rationalize that I just wasn’t an academic.

When I was about 26, my mood swings reached a critical maximum and I began to experience serious anxiety and depression issues. I had since moved to Chicago, and my father recommended I have blood work done to see if there was an explanation for my decline in mood.

It was at that point that my father told me that the doctors thought I might have had PKU as a baby. I went to Children’s Memorial Hospital, and sure enough, a filter paper test came back positive for PKU. They determined that although I don’t have the most severe type of PKU, I do have PKU. This means that my Phe levels become elevated when I eat protein. When I learned that elevated Phe levels can impact mood and brain functioning, all those years of struggles finally made sense.

I was presented by Dr. Barbara Burton, a metabolic geneticist at Children’s Memorial with the opportunity to join a clinical trial that tested the safety and effectiveness of a PKU medicine. I decided to sign up for the trial, since it could potentially help me better manage my Phe levels. I responded well to the medication, which was soon thereafter FDA approved as the first prescription drug for PKU.

When my Phe levels were lowered, I truly saw a change in my behavior and functioning. I realized I used to walk around in a fog. When I first began the trial and my Phe levels became regulated, that mental fog was lifted. I now have so much more clarity and no longer get terrible headaches. Also, my anxiety attacks are gone and I don’t get irritable or super frustrated for any reason.

What’s more, while I used to hate to read, I now devour books. In the past two years, I’ve read over 300 books – I’m a very familiar face at the Addison Public Library. I’m also considering going back to school to become a Physical Therapist I need to take some pre-requisites to go to grad school, especially some sciences, but now that my Phe levels are controlled, I believe I can give science classes another shot.

Ultimately, I am excited to tackle life’s future challenges, with a clear mind and healthy outlook. In so many ways, managing my Phe levels has made a huge impact on my life.