When my daughter was 2 months old, she was admitted to the hospital in an emergency for suspected biliary atresia. She received surgery for a definitive diagnosis and biliary atresia was ruled out. The doctor then told me that he suspected citrin deficiency.   

While I listened to the doctor’s explanation about citrin deficiency, I was surprised to find that my eating habits, hypoglycemic symptoms, and feeling unwell with too much carbohydrates, which are all persistent since my childhood, matched perfectly with what he said.  

No one in my family knew ‘citrin deficiency‘ in my childhood, so I was just a child with very strange food preferences. I did not like carbohydrate-rich foods like rice or pasta, but I always loved milk. I loved fish, meat, and vegetables, but it really depended on how they were cooked. I didn’t like sweets, fruits, or curry, which children generally like. Instead, I loved cheese, dried squid, salami, and nuts so much that I wanted to eat them endlessly. (Still do).  

The hardest part was that no one understood that I couldn’t eat carbohydrate-rich foods, and I was told to stay at the dining table until I finished all plates. Growing up, I had been a skinny kid, so I was told to eat even more so.  

I also disliked the fun parties such as Christmas parties at kindergarten or elementary school, because cakes and juice were provided as a treat. As a child, I felt ashamed that I disliked something that everyone else liked, so I forced myself to eat as much as I could and vomited in the bathroom.  

After forcing myself to eat, I felt physical discomfort like a hot flush in my body. But I spent my childhood not being able to tell anyone.  

I recall having episodes of what I know now are the symptoms of hypoglycemia. There were times when I could not move from heavy fatigue and had stomachaches, but it took me a long time to realize that there was a causal relationship with food.  

When I told adults around me that I wanted to eat deep-fried food, salami, sausage, or fried eggs with a lot of oil when I had a stomachache and fatigue, most of them would stop me and say, ‘You shouldn’t be eating such foods when you are feeling sick’. So, from around the age of four, I started cooking and preparing food that I wanted to eat.  

At diagnosis with citrin deficiency, the doctor told me that I was lucky to be in an environment where I could prepare food for myself, and that was probably how I coped with the health condition.  

After considering all things together about the growth process, eating habits, various episodes, and physical changes, I know that my body was honest. I always knew the difference between merely a preference and food that I actually need to eat or avoid since childhood, so I was very happy to reconfirm that I was right to listen to the voice from my body. 

My daughter’s confirmed diagnosis of citrin deficiency brought me permission to be true to and open about my body’s condition, and seek understanding from people around me.  

I would like to continue the management of the condition to stay healthy.