Voices Across America

PKU, still a long way to go

dog avatar


State: New York
Congressional District: NY10


Genetic Disease

Issues and Challenges

Lillian has encountered: Insurance Issues

My Story

I have the rare inherited metabolic disorder Phenylketonuria (PKU). Having PKU means my body can’t break down the amino acid phenylalanine, found in foods that have protein. Since I can’t break down phenylalanine, it builds up like a poison to my body, eating away at the protective covering around my nerves. If it goes untreated between the ages of 1-3, PKU causes mental retardation. If I went off diet now, as an adult, I would have nerve damage leading to all sorts of neurological problems including cognitive decline. Thanks to Newborn Screening I was diagnosed with PKU as a baby and immediately put on a low protein diet. Now, rather than being mentally retarded, I've graduated with honors from New York University and work full time as a writer and communications/community manager in NYC.

PKU was only discovered as a disorder in 1960, so when I was born, the oldest living person who had been diagnosed with it was only 30. We do know a lot more about PKU now than we did back then, but each day researchers and scientists are conducting experiments to more deeply understand PKU and how to completely cure it. Until the day that they discover a cure for it, we live with an intensive diet treatment plan. People with PKU have different levels of protein tolerance and we're only allowed to eat a minimal amount of protein a day. I can't eat meat, cheese, yogurt, beans, nuts, none of that. Most everyone with PKU drinks a specially formulated shake which completes our diet and provides us with a lot of important vitamins and minerals, as well as the basic vital components phenylalanine breaks down into such as the amino acid tyrosine. This shake allows me to be a fully functioning human being, no exaggeration. I drink mine 4-5 times a day and luckily I enjoy the taste. Some people with PKU must consume a shake that tastes awful to them because it's the only one that's available in their state, and even then sometimes they can't afford it because insurance doesn't cover it.

Having PKU is EXPENSIVE. The necessity of my medical shake and low protein foods, and their cost, means I always need to have excellent health insurance coverage. I currently opt for a higher monthly premium so that I have a lower annual deductible because I know I'm going to have at least $18,000 in medical costs that need to be covered for my shake alone each year, and it's actually cheaper for me to have a higher monthly premium in the long run. It also always feels like a bit of a gamble when I have to change insurance, will they cover it this time or will I need to convince them? It causes a lot of anxiety when considering job choices, and new opportunities.

In New York insurance companies must cover our PKU shake but that doesn't stop them from occasionally trying to wiggle out of it. Especially because it's expensive. And it is currently up to the States to decide whether or not they'll mandate coverage for PKU, and some states opt not to. This means that within the United States of America it is entirely possible to know that your child has PKU due to Newborn Screening and not be able to afford the care to ensure that they don't become mentally retarded.

My Motivation and Inspiration

I’m grateful for my experience as a person with a treatable disorder. I know I’m one of the lucky ones with access to treatment and health insurance. I'm motivated by the thought of a little baby girl living in one of the states in the USA right now, newly diagnosed with PKU, and her parents facing the dilemma of how they'll get her the medicine she needs. I'm motivated by the idea that she could be the one who discovers the cure for PKU in the future, or writes a novel, or becomes a United Nations ambassador and brokers a peace deal or starts a family and then raises her children with so much love. Love is the most powerful thing. That little girl's ability to express and understand love is dependent on our country ensuring coverage exists for all of us in the PKU community.

I'm also motivated by a desire to inspire others with PKU and rare diseases. The fact that we've got a little something extra to manage also means we have a little something extra to offer the world in terms of understanding, empathy, and compassion.

Share This Story

Find More Stories

Browse the map or filter by:

Click on pins to view stories.


Get the most from every Story

Find A Compelling Patient Story

Share it on social media.

Share Your Story On Our Network

Share your insights, challenges and what keeps you going.