Both of my children are patients of citrin deficiency.

I hope my experience can help and support people in the similar situation.

I myself did not have any health problems and used to even carry heavy loads in mountains for work so I thought the labor is going to be a piece of cake.

But my first child was not born even a week after the water broke, and was delivered by urgent cesarean section because her heartbeat became weak.

She vomited frequently so I told the doctor the concern at the 1st month check-up and the 2nd month check-up but nothing was done. My mother used to tell me that the tummy looks unusual and spongy and that she had never seen a baby like her.

Around the 4th month, she scratched behind ears a lot. The groin/inguinal area was swollen and it looked like hernia. The doctor at a clinic nearby also found her tummy unusual and he referred us to a university hospital. Maybe at the time ascites fluid caused hernia. On the next day, we visited the university hospital and there they found the hepatic function data and ammonia level being abnormal and she was admitted immediately.

The cause of the condition they told us changed from ascites fluid then cytomegalovirus hepatitis but was never fully identified. Months passed by and her condition did not improve. The attending doctor suggested transplantation. We moved to a different hospital for transplantation and the day before the operation it was finally found that she has citrin deficiency, confirmed by the gene test.

She was going to receive transplantation with unknown cause before the gene test result so it was actually comforting to know what was causing the sickness and that transplantation is the ultimate cure. It was the 8th month when she received the liver transplantation.

She recovered fine after the transplantation and was discharged a month later.

We started to consider the 2nd child about a year later.

By talking to a clinical psychotherapist, I found what I want, and started to think positively about having another child. I had a surgery myself for a different cause but later I became pregnant.

We decided to give a birth at a national hospital where my first child received transplantation. We requested a gene test to be carried out immediately after delivery.

The hepatic function data were all within the normal range and the mass screening came out negative, so the neonatology doctor suggested not to do the gene test as it is not likely he has citrin deficiency. I still asked for the gene test as the mass screening result does not erase the possibility but the doctor convinced us not to by reassuring that the mass screening had been improved in the past 5 years since my first child was born. But being uncomfortable with the decision, we decided to request the gene test again the next day. But they could not take the blood sample for the test immediately and we had to wait again.

The hepatic function data showed the elevation at the 1st month check-up. I told the doctor that facial jaundice is observed and the stool is whitish since the 3rd week but we were told back to wait and see for a while and the next blood check is going to be a month later. We consulted with the transplantation surgeon and moved the checkup to 10 days later. I was highly concerned to the extent where I could not even attend my daughter’s kindergarten annual sport event.

Ten days passed and the result came back showing even more elevated hepatic function data. We were also told that blood coagulating speed is slow which can induce cerebral hemorrhage so he was immediately admitted to the hospital. At the same time the gene test result came back positive, which was not what the doctor anticipated.

I still feel sorry for my son for the risk because we were once convinced that gene test was not necessary despite the knowledge we had on citrin deficiency.

The hepatic function luckily recovered a week after the urgent admission to the hospital and he was discharged 2 weeks later.

He started to take MCT milk with essential amino acid added and breast milk after the discharge and started to gain weight.

After starting nursery at the age of 2.5, he started to catch a cold, which led to hypoglycemia, dehydration, and acidemia, and then admission to the hospital which happened about twice a year. Infusion usually helped the recovery and he got discharged after 2-3 nights of stay. I once thought about purchasing a simple glucose measuring device but never actually did since there is a big hospital nearby.

He started to tell me around the age of 3 when he feels ill and that he wants to stay in the hospital.

He is currently 6 and the hospital admittance became infrequent. He has more energy and learns Karate and soccer. He eats cheese and fried chicken before the activities and is fully energetic. He is a kid who loves Sashimi and MacDonald’s.

I think I can observe the improvement on his energy level after introducing MCT powder and oil to his diet, which was recommended by a friend I met on SNS.

He gets stomatitis often, maybe because he does not eat vegetables much. It is difficult to make him understand that he needs to eat vegetables when we tell him that it is fine to pass carbohydrate.

Our first child who received the liver transplantation is now 11 and doing very well. She needs to take 6 medication including 3 immunosuppressive agents and needs to be admitted to the hospital once a year for a check-up with the general anesthesia but she goes to a competitive gymnastics class three times a week and plays Japanese card games Karuta on weekends.

I think that some of the readers of my article have children diagnosed with citrin deficiency. I am sure some of you are very worried because you are told that your new born baby has a genetic disease.

I think uncertainty of the future of this condition leads anxiety.
Recent studies show that genetic mutation happens everywhere.
So mothers, don’t be negative, share your concerns for diet, etc, and let’s enjoy child rearing together!