My jaundice was very bad right after I was born, and I was admitted to a hospital. Test results suggested that I had galactosemia. This is a condition caused by not being able to digest galactose, which is part of lactose in milk and breast milk. The hospital gave me a special milk that excluded galactose. This helped my skin color to return to a normal color. My skin was abnormally yellow till then. My mother told me how happy she was when the nurse told her “she actually had fair skin!”.
Jaundice and other figures normalized. Although I was diagnosed to have galactosemia, it seemed that I could actually digest some galactose, though not a lot. The hospital told us that they wanted to find out the core reason for what was causing my illness, so they would like me to be hospitalized until they figured it out. My parents were very much against this idea, and decided to treat me at home as I took special milk. I have to thank my parents for taking me home, because if they hadn’t I would have been at the hospital until age 13, which was when the hospital concluded that I had citrin deficiency.
After the baby food phase, I shifted to normal food and I started to show strong food preference which citrin deficiency patients tend to show. I didn’t drink juice, and abnormally rejected rice and noodles. I favored the side dish, and only ate a little bit of rice. For other people, it probably seemed that I was a very self-indulged child. My mother thought that this was a result of the galactosemia which I was diagnosed with as an infant, so she did not push me to eat much rice.
I never really got stressed from thinking why I get sick when I eat rice and noodles. However it did feel like mud was accumulating in my body when I ate rice and noodles so when I had a choice to choose my own food, I primarily ate the side dish and drank tea or water but not juices.
It has always been normal for my stomach to feel a bit sick when I eat carbohydrates, so I never really questioned it. Maybe I was unconsciously ignoring it, although I actually recognized that it was odd. However, there is nothing I could do about it.
Additionally I always feel hungry. And when I was really sick, I did have days where I wished someone would change his or her body with mine. And I did wish that person would experience what I have been going through. I did have days when I thought maybe my body was really trying hard, and experiencing something different from other people.
However since I am generally an outgoing person, I ran around with my friends in the fields. I had many activities after school including abacus, piano, basketball etc. I was happy to try new things that I became interested in, and was an active child.
Right before entering junior high school, I got a letter from the hospital where I was admitted when I was a baby. The letter said that there was a hypothesis that one of the reasons why I was diagnosed as galactosemia was because there was a condition called citrin deficiency which research was still ongoing. They asked me to visit them so that they could do a blood test. I had no idea what was really going on, but this blood test found that I had citrin deficiency.
When I found out about this, and was told that my strong food preference was because of this, I was relieved to know that I could tell people that I feel sick when I eat rice and can reject it. This is around the time I got sick more often. Looking back it is probably because of a couple of different reasons. I used to push myself to go to school even though I was sick, but now I was relived from pushing myself. Many years of stress probably came out of my body as a form of sickness. Additionally my period had just started and my hormone balance was probably abnormal. Since I started junior high school, I had to study for exams and I had to stay up late for this. I was able to go to bed whenever I felt sleepy during primary school without thinking of my studies. Lifestyle change was probably the biggest factor for being sick more often around this time in my life. I do have to add that I wanted to have fun with my friends on the weekends, so I probably played too hard!
Although I knew that I was carrying a condition, I didn’t tell any of my classmates. It’s not that I didn’t want others to think that I am weird. More because I knew that it was a difficult age to understand things like this, and I didn’t want people to tease me for this as they couldn’t understand. I probably unconsciously had low expectations for others to protect myself since a young age. So when I was young, I just let things be different between myself and my friends. However it was easy to tell them about citrin deficiency when I became older. Probably because my friends were more mature as well.
For children who have just found out about citrin deficiency, their friendships with other children are probably one of the hurdles they will face. So when I go to the citrin deficiency family gatherings, I told younger children that friends are not about numbers, it’s about finding good friends who really understand you.
Strong food preference, and not having much stamina is something that will continue all my life. I would like to prevent from having a liver transplant from the adult version onset. I know research is still ongoing about when and how this will onset, and how to prevent this but I have no idea when these results will come out. However there are more and more children diagnosed to have citrin deficiency as a child from newborn mass screening. I really hope research will continue on citrin deficiency, even though the results may not come out while I am alive. I do hope more people know about citrin deficiency, and once this is the case the environment will be better for children who have been diagnosed as having citrin deficiency.
