I was born in 1983 when citrin deficiency had not yet been acknowledged.
The record says I was born in the 39th week, 1810g with a note ‘low birth weight’ and was in incubator for the first month. Phenylketonuria and homocystinuria were detected in the 2nd week but the physical data recovered to the normal range by the end of the 4th week.
After that I stayed physically healthy until adulthood despite the unique food preference.
I found that this unique and extreme food preference is caused by citrin deficiency after my children were born.
My first child had no abnormality in the physical data and she grew fine, maybe luckily thanks to the fact that I fed her the same type of food that I liked. She was later found to be a patient.
My second child had prolonged jaundice and after several examinations he was finally diagnosed with citrin deficiency. I myself found the similarities and requested the gene test, and it turned out that I am also a patient of citrin deficiency. It was also confirmed at the same time that my first child is also the patient.
I never really had a problem in my life but had difficulties with my diet from time to time (camping or school excursions) and sometimes wonder if it could have been easier if I knew. I cannot forget how shocking it was to find the diagnosis.
I think it is good that we were able to find that my children are the patients in the early stage of their lives and we can seek for understanding from school and the surrounded people.
I feel that the world is becoming more accepting for various conditions and sickness, yet my wish is still the total cure for the condition.
