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What’s it like living with PKU? One advocate speaks out

Photo of Kevin Alexander

By Donna Campisano, specialist, Communications, APHL

Kevin Alexander’s life changed forever when he was just nine days old.

That’s when his family received news that one of his newborn screening tests came back positive for Phenylketonuria (PKU), a rare inherited disorder that causes the buildup of phenylalanine, an amino acid. Over time, that buildup can lead to catastrophic and irreversible health effects.

Every year, nearly four million US babies are screened for genetic and metabolic diseases as well as hearing loss and critical congenital heart defects shortly after birth. Those tests, most of which are processed by public health laboratories around the country, result in 12,000 saved or improved lives. PKU testing was started in the 1960s and launched what is today a comprehensive newborn screening system. According to the Baby’s First Test, approximately 10,000 to 15,000 babies in the US test positive for PKU per year.

“The first information my parents got was that I was going to be okay and there was treatment available,” said Alexander, who has no known relatives with PKU. “They were frightened, but they were also comforted by the fact that as long as I followed the treatment plan, I would be alright.”

What is PKU?

Phenylalanine is an amino acid found in many foods that contain protein as well as artificial sweeteners like aspartame. People with PKU have difficulty breaking down phenylalanine, so it builds up in the blood. When left untreated, PKU can cause serious complications such as intellectual disabilities, developmental delays and even severe brain damage.

The early years

Alexander, who works in video production in Shreveport, LA, says living with PKU in the 1980s and 1990s in the Deep South, where awareness was almost nonexistent, was difficult.

Photo of Kevin Alexander with his video production equipment

“It was complete isolation,” Alexander said. “Where I’m from, there was a stigma attached to anyone with disabilities and developmental delays. I had extended family members who said, ‘Let’s not talk about this, let’s not tell anyone.’ My parents were like, ‘Not talk about it? It’s going to be obvious as he grows up and he’s not eating what everyone else is that there something different here.’ My parents taught me that everyone has something, and this is my something.”

Alexander learned to manage his “something” with a low-protein, vegetarian diet and a medical metabolic formula drink. While many people with PKU can only tolerate a few grams of protein a day, Alexander was able to eat about 20 grams. “That made it a little easier for me to blend in,” he said.

Up to a point.

“When you’re at a birthday party at McDonald’s and everyone is eating cheeseburgers, I would take the meat out of the bun and stuff it with French fries,” Alexander remembered. “Kids would say, ‘What’s that?’ All you want to do is fit in, but you can never fit in when you have PKU.”

Teenage years

The teen years can be tough to navigate for anyone—but throw a rare disorder like PKU into the mix and things can be especially difficult.

Alexander talks of the resentment kids felt about the special menu he was allowed to order from in the school cafeteria and how some of his peers pressured him into eating things he knew were off limits.

“There was a kid in high school who was constantly trying to get me to eat beef jerky,” Alexander said. “And yeah, I would try it every now and again, just to fit in, and it gave me pretty severe headaches. I don’t think it was until my junior year that I got a solid group of friends who weren’t trying to coax me to do things they knew weren’t healthy for me.”

Early adulthood

Alexander says he became a little less restrictive with his diet once he hit his late teens.

At the time, the medical thinking was that people with PKU could transition off their regimented diet once they reached adulthood, when it was thought the brain was fully developed. An older medical theory said children could eat a normal diet when they reached about school age. Both thinkings have since been debunked. As Alexander points out, PKU is for life, and so is the dietary treatment plan.

“Back then I was thinking to myself, ‘Well, in a few years I’ll be off this diet, so let me start relaxing things a bit,’” he recounted. “I never fully stopped following my eating plan, but I didn’t always track what I ate or drink my medical drink.”

By the time he went off to college, Alexander was eating more protein foods like chicken and bacon. “It wasn’t every meal, but it was enough where I wasn’t healthy. I was having problems focusing in class and at work. Although I was experimenting with higher protein foods, in my head I still thought I was following the diet.”

Thankfully, Alexander’s experimental phase was short-lived. But others, he says, were not so lucky.

“I have friends who were taken off the diet at the age of five and stayed off for 25 years,” he said. “Even though they get back on, the cognitive effects they experience are lifelong.”

Present day

Thanks to medical advances and more dietary options, Alexander says living with PKU is easier for him than in years past.

Photo of Kevin Alexander in an audio recording booth

He still tracks his food and regularly checks in with his health care team—which includes a geneticist and dietitians—via in-person visits, email and virtual appointments.

He also takes 17 pills a day, one of which has helped him increase his protein intake from about 20 to 50 grams. Alexander can eat nuts and dairy and pasta, foods that were forbidden in his childhood. And when he goes to a restaurant, he can usually find a decent number of PKU-friendly options on the menu, such as salads and veggie entrees. He still drinks his metabolic drink and says he’s been lucky enough to get the expensive formula covered by either the state or his health insurance.

The lack of access to the formula and its unaffordability (it can cost thousands a month) are two reasons why Alexander, who is vice president of Louisiana Metabolic Disorders Coalition, got into advocacy work.

“The formula isn’t an optional thing,” Alexander noted. “It’s medically necessary. It’s an integral part of the PKU low-protein diet therapy. It’s an integral part of the treatment. Yet continually people in the US can’t get access to it. Or if they can, not all can afford it. If I lived 10 miles to the west in Texas, chances are I wouldn’t have had my drink covered. There’s no insurance mandate for it and no national mandate for it. Those are things we’re trying to change.”

Looking ahead

While Alexander acknowledges that living with PKU isn’t easy, he also knows “there are worse things.”

“PKU is not fatal. It may be life-altering to a parent, but it’s not to the child. It’s all they know. Someone with PKU who receives treatment doesn’t need to be held back in any way. There are probably a few things you can’t do—I’ve talked openly about how I wanted to serve in the military but wasn’t able to—but that doesn’t mean you can’t do other things. PKU is treatable and manageable, but don’t try to do this on your own. There’s an amazing PKU community out there (International PKU Day is celebrated June 28) and you can find them in advocacy groups and or through your clinic. There are people who understand what you’re going through.”

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