May is PKU Awareness Month, a time to raise awareness of this rare, lifelong genetic condition. A Philadelphia native, Mark Slopey, has been living with PKU since childhood, and it recently reared its head.
Mark, 49, was pulling into a convenience store parking lot five years ago when he felt intense pressure in his head. He laid down on the sidewalk and his daughter called 911. At the hospital, clinicians told Mark he was experiencing a panic attack.
Mark says he just knew it was something else.
PKU (Also known as Phenylketonuria)
For several years, Mark had been experiencing foggy-headedness, depression and anxiety—all symptoms we’ve been hearing more and more about this past year with the long haulers. But for Mark, who experienced these symptoms years before the pandemic, it was indeed something else. The cause was PKU: a rare, lifelong genetic condition. PKU (short for phenylketonuria) limits a person’s ability to break down the amino acid phenylalanine (Phe), a part of protein.
“Because I have this rare disease, I followed a strict low-protein diet when I was younger,” Mark said. “As I grew older, disease guidance at the time suggested introducing a protein back into my diet, which I did. I’m now 48, and a few years ago, I started getting really terrible headaches. I felt foggy-headed, depressed and had frequent panic attacks. In addition, I got a concussion and wound up getting laid off. It got to the point where I was considering ending it all.”
Fortunately, Mark’s wife is a nurse, and put two and two together for him. She did this by connecting his incident at the convenience store and his symptoms with PKU. After that moment, Mark realized it was time to go to a clinic and get back on a treatment plan.
“I didn’t even realize how impaired I was until I went back to the clinic and started on a treatment called Palynziq,” Mark stressed.
People with PKU are advised to follow diets containing almost no protein to minimize symptoms and prevent brain damage. Individuals unaware they have PKU often suffer brain damage and other cognitive difficulties. Luckily, since the 1960s, newborns in the U.S. have been screened for PKU shortly after birth.
PKU Has Affected Mark’s Family As Well
Mark’s older sister also has PKU, but given their age difference and lack of newborn screening at the time of her birth, she was not diagnosed until the age of 8. Sadly, this late diagnosis had a severe impact on her cognitive function. As a result, she experienced irreversible brain damage and currently resides in an assisted living facility.
Thankfully, Mark is back to managing his Phe levels and says he feels better than ever. He is starting a new job and serves as an active member of PKU World Wide, a Facebook group focused on providing support and connection to people in the PKU community.
“It’s been like night and day. My head is clear, and I can focus. I actually had to re-learn how to do things, but in a positive way. To others who may be on the fence about going back to the clinic, I say stick with it. I’m not the guy who follows through with things, but I’m doing it, and I’m so happy.”
You can learn more on PKU Awareness Month and treatment options at pku.com.