The first signs of citrin deficiency
I gave birth to my son at 38 weeks, and he weighed 2.9kg. At birth, we were told that he did not have jaundice, and he was perfectly normal. However, his thyroid levels were a little high, and the nurses requested for a blood test to be administered. We rejected the blood test, got discharged and went home afterwards.
He was an exclusively breastfeed baby right from birth. We took photos of him every day, as we were very excited as first time parents and looking back, we realized now, how yellow he was. Weeks passed and he became yellower each day. We tried every method we could think of, or being advised to by our elders, friends, everyone. Every method, you name it, we’ve tried it. We thought that it will eventually go away and we read online that babies with jaundice should breastfed frequently, to bring down the bilirubin levels.
He was gaining weight at a very steady rate, however he was a rather small baby. His weight, height, milk consumption and output is good. The only thing is, his skin was very yellow and his jaundice isn’t going away at all.
How we found out
At one month old, he was still very jaundiced and we felt that was a little strange. Most jaundice will go away on its own by a few weeks, but his was getting worse each day. We decided to bring him to the nearest clinic for a checkup and for his routine vaccination. That was when we found out that something isn’t right. Blood was drawn and urine samples were taken on the very same day. All tests came out showing that his bilirubin were very high. His bilirubin levels hit 300+ so we were directed to the hospital by the doctor on that day, and was advised to bring him to the Children’s Emergency immediately.
We were a little skeptical at this point as none of us understood what it meant exactly. So we went home, decided to wait a few days to see whether his jaundice went down, remained the same or became worse. We tried a few other methods, like bathing him in flowers we bought from the Chinese Medicine Shop, sun tanning and even gave him sips of water. Few days later, we realized that all our efforts were not working and we decided to take him to the hospital.
At the hospital, as he was only a month old, he was given priority and that was when we met a consultant in pediatric gastroenterology who had wrongly identified our son and scared us, into thinking that he might have biliary atresia. I remember at one point, I suggested to the doctor that we should have sent my son’s blood samples for a genetic test, to rule out any common genetic conditions that we might not know of. However, my request was rejected and we got coerced into agreeing things that we did not want our one month old son to go through. Our son and us, we went through quite a long and painful diagnosis process. He had to go through an ultrasound, two or three rounds of full body x-ray which has a significant amount radiation and also a biopsy. All these, I felt was unnecessary, a waste of our time, tears and money.
The biopsy was done when my son was two months old, and on the day the biopsy was done, the results for his genetic test came through and it showed that he has a condition called a citrin deficiency.
Meeting our doctor
We met another doctor, an associate consultant for the paediatric genetics & metabolism division at the same hospital. After our nightmare with the doctor earlier, meeting our new doctor was such a huge relief. She’s great doctor and a very nice lady whom understood what we went through and properly diagnosed our son. We were also given proper information and lots of explanation regarding the condition and advised us both, the parents, to go through a genetic testing just to find out if any of us were has citrin deficiency or we were just carriers.
At this point, I also found out that I should stop breastfeeding our son with immediate effect as his galactose levels were very high and he is not able to take any lactose at this point. Till this day, as a former breastfeeding mother, I still miss the bond I used to have with my son. We had to abruptly switch to giving him formula milk – ISOMIL, with dosages of MCT oil every day for every milk feeding.
We had an appointment with our doctor on a monthly basis, until he turned a year old. We were given plenty of advice from our doctor and our dietician. We tracked his milk feedings and MCT oil consumption on a daily basis and made very sure that he was on a very strict diet. His jaundice eventually went away, and that was when we thought something is actually working and at last we knew what was actually going on with our son.
6 months to 1 year old
At six months old, we started to introduce solids to him. But as advised by our dietician, he could not eat what other babies were eating and we had to make all his foods on our own. Meaning no food pouches, no readymade baby food, no yoghurt or anything with lactose. Our dietician was very helpful. Every month during our appointment, she would come up with recipes for us to prepare and give to him. It started with blended food, for example, avocado with tofu, Healthy times oatmeal cereal with chicken and peas, avocado with banana. Every introductory food we gave, must have a certain Protein Fat Carbohydrate content. We were very diligent in weighing and preparing his food until he reaches 1 year old. His blood tests every month, showed progress and his liver was getting smaller and less swollen.
At this point, we were very happy that we have him back on track, he is a happy baby and gaining weight. He is still a small framed boy. It could be genetics, as I am also very small framed, or it could be he has citrin deficiency. We do not know for sure. He is a very good eater and eats everything we made for him, fruits, vegetables, chicken, fish, tofu etc.
Current
Our son is currently 20 months old now (1 year 8 months) and we’ll soon be celebrating his 2nd year birthday soon. We had been through so much together and we’re very happy at this point to have discovered that our son has this condition very early in his life. It gives us more control and we’re able to take precautions now that we know. On most days, we make homemade meals for him, consisting of vegetables, fruits, less carbohydrates and more protein, and his daily intake of MCT oils. When we’re outside or when we travel, we would make sure that he has protein and also some carbohydrates to keep him going for the day. He does have 3 meal a day, on top of his milk. His favorite foods consists of fish, yellow noodle, chicken satay and banana. He loves codfish, and could eat it for every meal everyday if he could, but we try to give him variety, mainly chicken, tofu, beef or mutton. He has no problem eating rice either and he loves eating in general. He is just isn’t too keen on fruits other than banana and papaya.
Useful tips for other parents
Try to control their diet as much as possible and not to think about what others might say. Nobody really understands citrin deficiency, unless they are a citrin deficiency parent themselves. So no matter what my parents, or other people might say, we will do what is best for our son. As at the end of the day, we parents knows best, and as mothers, we know that we did our best to teach our kids on how best it is to live their life having this condition.
Of course, it is best that we weigh their foods according to the PFC ratio recommended by dietician or doctor. If not, try to make a rough estimation as to how much protein, carbohydrate and fats our kid needs. I feel that everything should be given in moderation and it’s a trial and error.
What we hope
Lastly, I hope to meet and hear stories from other parents with a similar plight as ours. I would love to meet parents with kids who are older and learn from their experience. It’s so great that we have a Citrin Foundation dedicated to bringing parents, patients and researchers together. I hope that schools, teachers, childcare educator and everyone in the world would eventually be aware of this condition, and that they know how important it is for a citrin deficiency patient to be mindful of his/her diet. I find myself trying to explain our son’s condition countless times to my parents and my in laws, but they still do not quite understand. One day, I also hope that citrin deficiency would be known worldwide and its awareness has reached a level to a point that no parent or patient would have to go through a painful diagnosis process as we did with our son.
