Don’t let the title fool you. This is not going to be your typical timeline with bullet points about the rise and fall of the Roman Empire or battles fought during the Civil War. This is a personal story about how I have lived with a rare genetic disorder. Saying I have a “rare genetic disorder” sounds intense and scary, but truthfully, I feel just fine. Really! So, don’t worry about me. I have everything under control, and frankly, I am thriving despite my “condition.” Starting from the day I entered this world, I will describe the struggles and normalities of my life with Phenylketonuria, and hopefully you’ll learn something from it.
July 6th, 1996
I was born in Emory Hospital in Atlanta, Georgia. Like all newborn babies, I went through a series of tests to assure I was healthy and stable enough to go home with my parents. One of those tests checked for the presence of Phenylketonuria, or PKU, which is an inherited metabolic disorder. With a prick to my heal, the doctors took a blood sample, and my results came back positive for PKU. About one in every 1,500 people have PKU, and on that fateful day, I became a part of that small population. My parents had their work cut out for them.
-What is PKU?
PKU is an inherited metabolic disorder caused by a lack of the enzyme used to break down certain amino acids, specifically phenylalanine. If untreated, people with PKU can experience severe mental retardation and seizures. Luckily for me, I was born after testing for PKU became mandatory and was immediately prescribed a metabolic formula and a strict low-protein diet. I couldn’t eat any meat, dairy, chocolate, sugar-free drinks or high-protein vegetables. Again, this all may seem terrible and you may see me as this deprived human being who has never experienced the joy of a Kit Kat bar or gorging myself with a pint of Rocky Road ice cream. However, I assure you that this diet was not as bad as it seams and, thanks to science and a team of excellent doctors, geneticists and chemists, I was eventually able to eat meat, dairy, chocolate, and beans. But that didn’t happen until about 12 years into my life. In the meantime, my parents and I learned a lot about my genetic disorder (like the fact it was because of them that I had it).
The Early Years
The first four years of my life with PKU went smoothly. I can’t recall the exact day or moment I realized I had to avoid certain foods. What I do remember is the many doctors’ appointments my mother took me to once we moved to Ohio. These appointments stuck in my little, four-year-old brain, mainly because they were not like “normal” doctors’ visits. They weren’t the kind of appointments where the doctor makes you stick out your tongue or taps your knee to check your reflexes. Instead, the doctors would ask me to say the alphabet, count to 20 or name my shapes and colors. It felt like school. Later I would find out the doctors were testing to see if I was having any negative cognitive side effects from PKU. Luckily for me, my mom was a teacher at the time and strongly encouraged me to read, write and learn as much as I could every day. I can’t say that my mom’s “curriculum” for me as a child completely cured any learning disabilities from PKU, but it certainly didn’t hinder me.
On top of the doctors’ appointments, I had to give, and still have to give, blood samples every month to assure my phenylalanine levels remain at a healthy level. The ideal levels to have are between 1-6 mg of phenylalanine, and if they are too high, I could experience fatigue, migraines or seizures. By following my diet carefully, my levels have always been right where they need to be. As a kid, I hated going to the doctors’ to get my blood drawn. Most of the time my blood sample was taken by pricking my finger with a small needle. Other times the sample was taken from my arm, which would send me into a crying panic as my nurse would try to calm me down, sometimes calling for assistance to successfully take my blood sample. Around the time I was 10, I became more comfortable with the needles and soon was able to take my own samples at home.
As I grew older and ventured into the first grade, I performed and behaved like any other 7-year-old, despite the doctors’ predictions. I could read at a pretty advanced level, struggled with math but was able to get good grades. I was, however, behind the other kids in my class in one specific way: I still drank from a baby bottle. Every night I would drink my metabolic formula that was low in phenylalanine and packed with glycomacropeptide (GMP) and amino acids. The formula assured that I was receiving the essential amino acids I needed without the phenylalanine. The formula was the bulk of my calorie intake every day. I would shake up the ingredients in a baby bottle and guzzle it down as fast as I could; it wasn’t the most appetizing drink. The bottle made it easy to shake up the powdery, chunky ingredients, and sucking on the bottle made it much easier for me to drink it. When I was in fourth grade, flavored, juice-like pouches were released into the PKU market and replaced the formula. These pouches still didn’t taste great, but they allowed me to finally ditch the baby bottle.
Even though I was a good student and continuously earned good grades, my teachers and parents could still sense I was struggling with certain lessons and subjects. As previously mentioned, I struggled in math, a lot. Just looking at numbers would overwhelm me, and mental math was near impossible (and still is). My mom would spend most nights trying to keep me from having mental breakdowns and temper tantrums as I ran through my multiplication tables. Spelling was another enemy of mine, although I could read very well. I survived spelling tests just by memorizing the words and then forgetting them immediately in order to memorize the next batch. I failed to grasp major grammar concepts, and writing essays or extended responses on tests took an agonizingly long time. Like any mother who was also a teacher, my mom did everything in her ability to help me find a “cure” to the pain math and grammar caused me. So after a series of cognitive tests at Akron Children’s Hospital, we discovered I had a form of dyslexia that resulted from PKU. My mom quickly signed me up with math and grammar tutors and continued to help me every night with my homework. Slowly but surely, my spelling skills improved and numbers weren’t as terrifying. I still struggled with some math and grammar concepts throughout my schooling, but I was able to get the help I needed in order to achieve all my academic goals.
Pork Chops and M&M’s
The summer before I entered fifth grade, my life was completely changed forever. After years of giving my brothers my Halloween candy and skipping out on the turkey at Thanksgiving dinner, I could finally eat like everyone else. Instead of the formula, I took 12 little pills every morning so my body could metabolize phenylalanine and I could eat pretty much whatever I wanted. Kuvan is the name of the medication I still take in order to eat high-protein food. Luckily I have never experienced any side effects from the medication, and my phenylalanine levels have been right where they are supposed to be. The first day I took the medication, my dad made me a pork chop on the grill and videotaped me eating it. With a little bit of garlic salt, a side of green beans and mashed potatoes, it was a meal I will never forget. For dessert, I had a handful of M&M’s and was in food heaven from the tiny colored candies.
In 2011, I graduated from middle school, traded in my braces for car keys and prom dresses and took on high school. I was fortunate to have gone to a school where the academic standards were set very high and the teaching staff was filled with adults who pushed their students to achieve their highest goals. Anxious to become one of the many successful students who attended my school, I got involved with as many activities as I could. As my after-school schedule began to build up, so did my schoolwork. My math classes became harder and my science textbooks became more difficult to comprehend. Homework started right when I got home and didn’t end until I could hardly keep my eyes open anymore. I slowly began to realize I needed help. I just wasn’t able to learn and work as fast as the kids in my class, and I knew my PKU had something to do with it. So, I scheduled a meeting with my principal, counselor and teachers to set up an academic plan tailored to my specific needs. At the end of the meeting, I received my own 504 Plan.
-What is a 504 Plan?
A 504 Plan is a plan created for a student who has a disability and needs accommodations within the classroom to ensure academic success. My 504 Plan allowed me to have extended time for exams, access to separate testing locations outside of the classroom and modified wording or eliminated answer possibilities on tests.
You’re probably wondering why I would ever decide to not eat meat or any animal products for that matter after finally given the opportunity to to do so. It does sound ludicrous, but I have my reasons. Believe it or not, plants can provide just as much and even more protein, iron and other nutrients as a hamburger, which I found extremely interesting. After learning about the health and environmental benefits of eliminating animal products from my diet, I became vegan. I still get an abundance of protein from lentils, beans, tofu, spinach, soy products and tempeh. Going vegan may seem like an extreme diet for some, but for a person with PKU, it’s not that big of a change. Deciding not to eat animal products has forced me to be creative with my food and has taught me to appreciate how fortunate I am to have access to such an array of nutrients. I believe my interests in the science, history and culture of food came from my dietary limitations growing up. Now that I have the freedom to eat almost whatever I want, I have decided to be a conscious eater, knowing where my food comes from and its impacts the planet.
A Look into the Future
A New Discovery
This past summer, I went to my annual check up with my PKU doctors. After 20 years of these visits, I was anticipating everything to go as usual and to return home to continue my regular routine. When my doctor came into my room she skipped the usual greetings and questions, and instead, she grabbed my hands, looked me in the eyes and told me that a miraculous breakthrough had occurred. My doctor told me a new serum has been tested and approved for PKU patients. Much like how diabetics take insulin shots, this serum will allow my body to metabolize phenylalanine even more efficiently than my Kuvan medication. Due to my history of healthy phenylalanine levels, I will be one of the first PKU patients on the planet to receive this serum.
I have witnessed science go through leaps and bounds to create medical miracles for people with PKU. Thanks to the countless hours scientists have dedicated to cultivating treatments, medications and awareness for PKU, I can not only overcome, but prosper with this genetic disorder. Just 40 years ago, people born with PKU unfortunately experienced, and are still experiencing, severe mental disabilities. Now, people with PKU are no longer hindered by severe mental and learning disorders and can look forward to following a “normal” diet. The advancement of modern medicine has done miraculous things for those with PKU, and now, this small population of people, myself especially, will not be restrained from a “normal,” happy life, full of Kit Kats and Rocky Road.