Initial signs

Our son Z was born full term at 2.57 kg. In fact, before the delivery, our gynaecologist suggested that we do C-section because the baby seemed too small and it could be risky to do a natural birth, which we accepted. In the initial weeks, he was also very jaundiced and was admitted twice for phototherapy within the first week of birth itself. Other than that, he was also unable to latch well for breastfeeding and as a result we needed bottle feed him very early on. After each feed, we also found him very gassy and was constantly having spit ups. As he was our first child, we assumed that this level of burping and spit ups was all part of a new-born’s feeding routine.

How we found out

Around Week 9, Z developed an odd case stridor after feeding sessions. We brought him to a local paediatrician, and it was said to be of no big concern. However, we sought a second opinion from a friend’s mother who is an experienced paediatrician who advised us to immediately admit our son to the Paediatrics ED at University Malaya Medical Centre (UMMC) which was where things started to escalate.

Upon initial assessment, the doctors at UMMC were not entirely concerned with the stridor symptoms but became extremely concerned that he remained very jaundiced at week 9 (prolonged jaundice). Besides, they also felt that his liver was enlarged and were not comfortable with his slow weight gain (failure to thrive). These raised serious red flags and we were told that he needed to be admitted immediately to be scheduled for an ultrasound.

Over the next two days at the hospital, Z was examined and assessed by teams of doctors from paediatric hepatologist, endocrinologists, ENT specialists and even surgeons through ultrasounds, x-rays and blood tests; they were conducted to test liver functionality to ultimately exclude biliary atresia if possible. We were quite taken aback given that we first came just for some minor stridor symptoms. There was a lot of crying and screaming from Z with all the procedures and it was highly stressful for everybody. Eventually, the specialists were 95% confident that biliary atresia was not present but given the symptoms, they were not comfortable with the remaining 5% chance. They then proposed a surgical assessment (Kasai procedure) to be done. We were not keen for our barely 2-month-old infant to undertake a surgical procedure for a condition that may not even exist, but we bit the bullet and decided to schedule the emergency surgery within the next 48 hours.

We were discharged for more comfortable childcare at home over the weekend as there were all kinds of pandemic restrictions at the hospital, but Z did not seem to be recovering well from the whole episode. He seemed a lot more tired and slept a lot more than usual. We thought all the drama at the hospital may have taken a toll on him. However, in less than 24 hours after discharge, we received a very concerned call from UMMC, this time from the pediatric genetics department. They took a final blood test before we left the previous day and apparently the results showed a very high blood ammonia reading. At the same time, they asked us if he was abnormally tired, which as we observed, he was. We were advised to return to the ED immediately and get admitted to the genetics ward for observations for a potential Inbound Error of Metabolism (IEM) which could explain all the other symptoms as well.

That night, they took another blood reading and the blood ammonia shot through the roof, which was where Dr Tae from the UMMC Genetics team, who was the specialist in-charge at that time, decided that it is now at a critical stage and Z needed to be admitted to the ICU immediately. Perplexed, confused and completely broken, we agreed for this to be done.

Z was in ICU on ammonia drips and blood transfusion for three nights, with the first 6 – 8 hours just trying to get the tubes in his tiny body. The doctors (as they do) could only tell us to prepare for any outcome. It was probably the worst three days of my life. With all praise to God and all gratitude to the doctors, on Day 3 we were told that we were out of the woods, he responded well to the ammonia drips and that he could be discharged to normal ward if he responded well to lactose-free milk.

I must note that this was also where we met the renowned paediatric geneticist Professor Thong, whose team handled Z’s entire case from the call to us through the ICU monitoring. He joked that this case had been keeping the hospital busy all weekend. After looking at the blood results and observing the behaviourial data over the previous nights, they were certain that the condition was NICCD caused by citrin deficiency.

The team also asked about his feeding behaviours, whether there were a lot of spit-ups, failure to latch and so on, which further confirmed the diagnosis.. He proceeded to explain what Citrullinemia Type II (citrin deficiency) is and how the only treatment for this condition is lactose-free milk formula with MCT supplements, with a controlled diet. He also assured us that he had seen enough citrin deficiency patients in his days to tell us that Z would grow up like any normal child.

On Day 4, Z’s ammonia levels stabilised, and he was also found to respond well to lactose-free milk.We were given the greenlight to be discharged to a normal ward for observation of a few more days before being allowed to go home with a whole new dietary regime prescribed by a dietitian who is also experienced with citrin deficiency.

And that was how we found out that our son had citrin deficiency.

I do want to apologise for this lengthy story, but as you can see with this case, at no point did we as parents suspect for any of this to further develop. All we were concerned about 2 days before that was just that he had a bit of a stridor/wheezing sounds. If not for us admitting to ED for the first time, with the amazing paediatricians at UMMC who found other symptoms suspicious, we would not have known that he was entering a critical condition. It was life or death! I think it is quite important for parents with infants with similar symptoms to find this story online and get it checked for IEMs or Citrin Deficiency as it is often (and given how rare it is, understandably) not the first thing doctors would check.

Since our son was diagnosed with citrin deficiency

3 months to 1 year old

Upon discharge, the key thing was to stop breastfeeding immediately and begin Z on a diet of Alimentum supplemented by MCT oil as prescribed by the dietician. As he started on solids, we worked closely with our dietician to reduce the dosage of milk and manage the nutritional composition of the food Z consumed through this NICCD stage, keeping a good proportion of protein, carbohydrates and MCT oil. At this stage, we continued follow-ups with Prof Thong’s genetics team and our dietician every month for the first 3 months, then every 3 months following that. This was to monitor his ammonia levels and catch up on his dietary habits.

During the first few months of this diet, Z stopped being overly gassy and his spit ups immediately ceased. His body worked hard to absorb everything he was fed and started rapidly catching up in terms of weight and growth. He also started hitting all the milestones he was supposed to hit for his age and was a very active and smart little baby.

1 year to present day (2 years 4 months)

As he transitioned out of NICCD stage after 1 year he also fully transitioned into consuming solids as his main source of food. From 18 months onwards, he has also transitioned from Alimentum to Nutren Junior as his main formula milk (for the nights) with MCT oil. As things stabilized, our hospital follow-us have also reduced to every half a year at this point.

Just like most toddlers, he began walking around his 13th month and has never looked back since. He is a big fan of trains and rockets and enjoys his daily dose of Cocomelon and Blippi, as well as running endlessly at the children’s gym at playschool with his friends.

By 2 years old, he has successfully reached 50th percentile for weight growth! This is quite an achievement given where we started from. Looking back at what happened, we are so thankful to be able to still witness him grow into this brilliant little boy that he is today. If not for the very perceptive doctors at UMMC, we may not be able to enjoy such a privilege.

Some learnings

Food preferences

Z’s daily diet now involves mostly porridge (or rice), baked chicken (or a similar portion of other proteins) with MCT oil. He also really enjoys his snack times between meals, which can involve the healthier Cerelac snacks, toddler rice biscuits or sometimes the less healthy adult snacks like Pringles or Corntos. He drinks a good amount of water for a 2-year-old child.

We also noticed that, perhaps due to citrin deficiency, that he has kind of a “carb quota” where if he has had a lot of rice for lunch, he will refuse to eat too much rice for dinner.

His favourite food is nasi lemak ayam goreng (coconut boiled rice with fried chicken) and he does not mind a bit of sambal (chilli shrimp paste).

Challenges with food

I think the biggest challenge we have with Z circles back to food as we wrestle with whether his refusal to eat is due to toddler pickiness or his natural preference due to citrin deficiency. Some days are good, and some days are bad. When he’s hungry, or he doesn’t have enough to eat for the day as well, his mood is erratic and often he bursts out in anger – adding to the stress to ensure he receives the nutrition he needs.

Getting sick

We also find that he takes quite a long time to recover from common colds. It takes around 2 weeks for him to stop any runny nose he has even with medication.

What we look for from the Foundation

We hope to connect with other parents with children with citrin deficiency, especially to learn from those that are more experienced on some of their learnings with food consumption and growth, as well as to support those parents who recently had their children diagnosed with citrin deficiency because we definitely wished we had the information and support ourselves in the past 2 years.

As “manageable” as it is said to be, raising children with a rare disease like citrin deficiency can be a lonely journey. They may, thankfully, be growing up just like any other kids, but there are challenges we face that only parents with children with the same condition can understand. This is why this community is important to help us all feel a bit less lonely in this journey. Besides, this could also be the only platform where we have enough doctors who have had ample experience with the condition to provide accurate advice on certain matters. So, we hope that as the Foundation grows in medical breakthroughs with all our support, we as patients/parents can also grow in collective knowledge on how to manage through the different phases of life.