When I was born, my mother thought I was an angel. Her angel became modified with “perfect” the first two weeks home from the hospital, when I was so quiet and peaceful, you would have hardly known there was a new baby in the house.
Then Mom got the phone call that would forever change both of our lives. The doctors told her I had Phenylketonuria (PKU), and I had to come back immediately for a second blood test. My mother first assured them that they had the wrong baby, then she took me back to the hospital.
The second blood test confirmed I had PKU, a rare genetically inherited metabolic disorder. The doctors and dietitians put me on the PKU diet and sure enough I began to scream and cry like a normal baby.
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 as 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 schizophrenia among other things. You can imagine why my mother, a geneticist by training who already knew the ramifications of a diagnosis of PKU, would initially refuse to believe I had it.
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. There were literally no examples of successful, powerful people in their 30s, 40s, 50s, who had PKU, because they were all mentally retarded. In fact, even early on in the 1960s, 70s, and 80s, after PKU was discovered, it was widely believed relaxing or going off the PKU diet after the age of 6 was acceptable.
Later they realized going off the PKU diet–at any point–caused mental illness, violent mood swings, a lower IQ, declining academic performance, and an all around inability to reach one’s full potential.
The PKU Diet
Phenylalanine is found in foods high in protein, so I have an extremely low protein diet. I cannot eat meat, cheese, yogurt, eggs, milk, nuts, or beans. It’s possible I was such a quiet baby before my diagnosis because I was being poisoned by my mother’s high protein breast milk.
Each person with PKU has a slightly different diet based on what their phenylalanine (phe) tolerance is. I have a slightly higher tolerance (atypical PKU), which means some small part of my enzyme that breaks down phe works, so I can eat limited amounts of bread, pasta, and rice. Those who have Classical PKU have a lower phe tolerance and can’t eat bread and pasta, instead they eat substitutes made from starch. Fruits and vegetables are basically unlimited foods for all people with PKU.
Then there’s (what I like to call) our shake. Everyone with PKU has a prescribed amount of daily shake intake. I need to have 18 scoops of Phenyl Free 2 mixed with water each day, and luckily I love it. This shake (or formula) completes my diet and provides me 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 have never gone off diet. I graduated from New York University, Tisch with honors three years ago, and I’ve been freelancing as a dues-paying actor, writer, and model in New York ever since.
Living with a Rare Disorder
Though I love my diet and my shake, having to explain my disorder to others sometimes makes me defensive. Every time I sit down to eat, the person across from me will inevitably take one look at my plate and tensely or curiously asks “Are you a vegetarian? Vegan?” Often I want to simply say yes to avoid going through my whole spiel, especially when I’m hungry and want to dig into my meal.
Nowadays being considered vegan or vegetarian is cool, but it wasn’t easy being singled out like that when I was growing up and attending school. For all of us with PKU, it takes guts to explain how different we are to our peers. It takes stamina to repeat the same story to new acquaintances for decades. It takes patience to put up with things like people asking, “Why don’t you try going off the diet to see what schizophrenia is like?” Yes. This is actually a question I’ve been asked. Many times.
When someone’s reaction to my PKU is to pat me on the head or hand and say, “Oh you poor thing, you can’t eat anything”, I want to say, “Actually I can eat plenty! The PKU diet is remarkably close to the healthy Mediterranean diet, and happily my veins aren’t clogged with pig fat.” Instead I simply–and cheerfully–say, “Well I don’t know what any of it tastes like anyway, so I don’t miss it,” which is also true.
Besides, there are plenty of reasons to pat someone with PKU on the hand and empathize, none of them related to diet. Rather, it has to do with how difficult it can be to get the appropriate care for the disorder. In the United States, insurance coverage is different on a state by state basis, which makes it really hard and expensive for those who live in a state without PKU coverage. Each time I get new insurance, it’s a hassle to get them to recognize the medical necessity of my shake. Having this rare disorder can be a huge administrative headache.
Sure, I feel defensive and frustrated sometimes, but I’m grateful for my experience as a person with a treatable disorder. I know I’m one of the lucky ones. Oftentimes doctors will refer to PKU as a disease, but I beg to differ. PKU is a disorder, something I live with but control: a part of my body doesn’t work quite the way it should, that’s all. Moreover, thanks to Dr. Ivar Asbjorn Folling and Robert Guthrie, these days we know how to fix it. Thanks to my doctor and nutritionists at Mount Sinai Metabolic Clinic, I get my blood tested for my phenylalanine level every couple of months and stay on track. Thanks to my Mom keeping me on diet as an infant, I’m not mentally retarded. Thanks to being born in the United States, I was screened for PKU at birth and put on diet. And thanks to my living in New York, my health insurance currently covers my expensive shake.
That’s a lot to be thankful for.
I’m not diseased. I’m healthy, happy, and grateful.