Walt Disney once said, “The way to get started is to quit talking and begin doing.“

My name is Akemi Kawabata, I am currently 11 years old, and I live in Salt Lake City, Utah. When I was born on February 16, 2011, I had severe jaundice for an extended period. I received phototherapy three times for five days each cycle. I went through the new-born screening process and after several tests including DNA testing, I was diagnosed with citrin deficiency, and both of my parents were found to be recessive carriers.

Once diagnosed, the doctors incorporated a fish-based supplemental formula into my diet. I was a very happy baby and enjoyed social activities, and I looked up to my brother. I hit most milestones early and did not experience many issues as a baby.

Early years

During my preschool years, I was outgoing and talkative. I enjoyed interacting with my cousins and friends from an early age. I enjoyed physical activity and I wanted to keep up with my older brother. At school, I found it pretty easy to fit in and make friends. I was a little shorter than the rest of my class, but I didn’t really notice. I participated in many sports like taekwondo, soccer, gymnastics, ballet, and hip hop. I was very competitive and enjoyed all activities.

On the last day of 4PreK, a friend challenged me to hit a target with a rock. I hit the target but unfortunately the rock ricocheted against the building and hit me between the eyes. I had to get 12 stitches while I was awake because I cannot go without food for more than a few hours. When I was in kindergarten, I memorized the names of all my classmates, their parents, and siblings. I received the nickname “Akemi, the Mayor.” My great-grandmother and grandfather watched me during the day when I was young.

Unique characteristics from a young age

I enjoyed moving and keeping busy. I began playing in golf tournaments at six years old. I took a break after a parent was frustrated that I did cartwheels down the fairway and then won first place. I learned early on that parents want to win more than the kids and sometimes take the fun out of games. I began taekwondo at the age of four years old and I earned my first-degree black belt at the age of seven years old. I was the youngest to test for a black belt. As part of my metabolic testing and monitoring, I was tested for cognitive or social anomalies every few years. Similar to my brother, reading and writing were a little more challenging while math was much easier. I also have a strong visual memory that helps me with piano recitals and math and spelling tests. I am also very meticulous about organizing my things, and I like to collect various items. When I was eight, I loved Squishamallows and had a collection of over 100 animals.

Diet and exercise

As I get older and play more sports, I am beginning to learn how to manage my protein so that I can play my best. When I was younger, I wanted to fit in so I ate chips and other carbohydrates when I was with other kids. When I was in preschool, the assistants wanted to put me in time-out if I did not listen as closely when I was low on protein. Fortunately, the head teacher would instruct them to give me cheese and within 10 minutes, I would return to my compliant and happy self. I struggled a little with peer pressure as I like to fit in with my friends. However, over time, I learned for myself that I felt better with protein and less carbs, so I began to cut out processed carbs. I never ate sweets or candy, and I only drank milk and water. However, after my basketball tournament in Las Vegas, I decided to cut out as many carbs as possible. One night I ate two In-N-Out double-double hamburgers protein style (on lettuce) in 10 minutes.

I also have a relatively large appetite since I do not fill up on carbs and proteins do not last as long in my system. As an athlete, I participated in competitive basketball, golf, and martial arts tournaments. Every day, I eat breakfast that consists of one-half cup of oatmeal, 6 oz of 2% milk, an egg white omelette, and my vitamins, MCT oil, and L-Arginine. After my basketball tournament in Las Vegas, I decided to stop eating most processed carbohydrates. I no longer eat bread (except for my low carbohydrate tortillas), chips or sweets of any kind. I regularly eat a Caesar salad with chicken or protein, fruit and vegetables for lunch. I usually eat about 6-8 oz of protein (beef, chicken or fish) with plain steamed vegetables and salad for dinner.

Strengths and weaknesses in elementary school

Like my brother, in elementary school, I did not enjoy reading and writing. In fact, I’ve always been able to read but I struggled with reading comprehension. I currently work with a tutor to practice reading and analyzing what I read in preparation for high school. During these years, I also established a love for basketball, piano, taekwondo, and golf. I was lucky to attend a small private school where the teachers were aware of my condition and they were willing to help me through some of the challenges. I find myself trying to help my friends navigate through social challenges. I am beginning junior high this year and I will let you know how it goes!

Accomplishments and awards

Despite being relatively young, I have experienced receiving several awards and personal accomplishments over the years. I received my 2nd-degree black in taekwondo after training for 5 years. I play with boys on a competitive basketball team in leagues and tournaments. I have competed in an international taekwondo tournament earning gold and bronze medals and participating in large demonstrations. I competed in several golf tournaments during the summers and received first place this summer in a Club Championship tournament. I have multiple acrylic paintings that have been selected by the local zoo art show and I received the youth award for one of the pieces. Overall, I have not experienced a lot of issues with a protein deficiency yet, but my brother and parents are guiding me and helping me as they learn more about the deficiency.

In summary

I wanted to share my story and hopefully help others realize that there are some challenges growing up with a little-known condition, but it does not stop you from being a kid and enjoying some of the benefits of a healthier diet. Also, Citrin Foundation has supported us through testing and research, and we look forward to providing information and data to help doctors and researchers find better ways to manage the deficiency and help more kids. I personally enjoy participating and traveling to see new places in order to support the overall research goals of the Foundation.

Here are some artworks by Akemi, you may click on the photos to enlarge and view them in greater detail: