Nicholas and Connor from Australia
Our third son, Nicholas was born in the early hours of November 19th, 2019, in Sydney. The labour was straightforward, and we were sent home with our beautiful bundle later that day. My husband Daniel had some time off work during those 2 weeks, and we adjusted to now being a family of 5. Everything seemed to be going smoothly. The day that Daniel returned to work, I received a call from the local hospital asking me to bring Nicholas back in the following day for another test as his original newborn screen had flagged an issue. We had a friend over later that day to meet our new baby and we discussed the call and our concern that something could be wrong. Our friend had a similar occurrence with their son and when they had the follow-up test, it turned out that it was a lab issue, and everything was perfectly fine.
The following morning we took Nicholas for the blood tests and the nurse suggested our baby may just have a B12 deficiency. We did the follow-up heel prick test, and we took him home feeling relieved that it was probably nothing serious, particularly as he seemed a happy baby. Two days later I received another call; this time from a doctor at the children’s hospital as well as someone from newborn screening, and they both seemed very concerned. They asked me if Nicholas was ok, if he was sick and feeding properly and wanted me to bring him in to the children’s hospital urgently. When we arrived at the hospital we didn’t wait long before we were ushered into a room filled with doctors, nurses and a social worker. At this moment we felt this was something really serious and were terrified! The doctors were amazed at how healthy Nicholas seemed to be, but they quickly took him off for blood tests and to start injections of B12. My husband went with Nicholas and the doctors because I was an absolute blubbering mess and stayed behind with the social worker. I have no idea what we discussed because I think I was in shock. An hour later Daniel returned and they explained that they wanted to admit Nicholas,. so we would be staying at the hospital. We met with Dr. Ellaway, the head of the metabolic department. Dr. Ellaway explained that Nicholas had a metabolic disorder, and they weren’t sure which one, but wanted us to stay in for tests to see if he would respond to the B12 injections.
The blood test results showed that Nicholas was b12 responsive, so this pointed to him having Cobalamin C disorder. We discussed the importance of his medication and they explained to us all the possible side effects and what to watch out for. We were discharged after 3 days and going home was scarier than it had ever been going home with a newborn. We had so many worries about his feeding (What if he got sick? What does all this mean for our new baby?). All of these scenarios were running through our minds.
Over December and into early January we got to know the team at Westmead Children’s Hospital as we were regular visitors for checkups, blood tests, and injections. In late January 2020, we relocated from Sydney to Queensland – a move that had been planned since I first found out I was pregnant. We had committed to the move, but we were very worried about leaving Sydney and what this could mean for Nicholas’ continuity of care.
After about a month of living in Brisbane we were contacted by the Queensland Children’s Hospital and went for our first visit. We were still in the process of wrapping our heads around what this all meant, but I was really keen to have my other two sons tested to make sure they were ok. The doctors explained to us that we shouldn’t be worried about our other sons, that Nicholas was our main priority, and that they would go back and double-check our other sons’ newborn screening tests just to be sure. A few months passed before we were able to head in for another face-to-face in the hospital thanks to Covid, but when we finally got in to see the doctors, they assured us that they had been in contact with the relevant department in Sydney and our other two sons’ tests were perfectly fine.
As Nicholas started solids, we were placed on a strict low-protein diet of just 6 grams per day which was slowly calibrated to include more protein as he grew. By one year old he was allowed 12 grams of protein but no meat products or dairy. This was a strange situation for us as we knew Cobalamin C was treated a lot differently in the US, but we decided that we just had to trust in our doctors as Nicholas seemed to be doing really well.
The following Monday I had dropped the boys at school and daycare and had just arrived at the shops ready to buy Connor, our middle son, some presents for his upcoming 4th birthday when I got a call from my husband. The hospital had called Daniel and told him we needed to bring Connor up to the hospital right away. I broke down in tears in the middle of the shopping centre and I think this scenario was even more shocking for us than when we first found out about Nicholas. We had no reason to suspect that anything was wrong. On October 28, 2021, just 3 days before his 4th birthday, it was confirmed that Connor also had Cobalamin C deficiency. We were told that our two sons represented 2/3 of Queensland's population of Methylmalonic Acidemia and there was just one other case in the whole population of Queensland. Connor started his first year of formal education at school this year and it’s going really well. We had concerns about the potential for any damage that may have been done while he was not being treated, but so far, his vision is fine, and he has no delays. Our son Nicholas is also doing really well and meeting his goals.
In January 2021 we finally received Nicholas’ genetic results confirming he did in-fact have Cobalamin C disorder. This again raised concerns for me surrounding my other sons, and we asked if we could have them tested for CblC. Our doctors weren’t very keen and explained testing them could have moral repercussions as it should be their decision. I kept pushing, and by October 2021, the hospital finally agreed to do a urine test to check for MMA on our other two sons. Again, we were reassured that they had double-checked their old screening tests which were all fine. We finally did the urine test on a Friday evening. Our sons did seem perfectly fine at this stage, and I just wanted to have that confirmation; it was never that we suspected anything. Both boys were happy, healthy and thriving.
By sharing our story, I would really like to highlight how important it is for screening siblings of familial cases. It was a real effort for us to achieve this here in Australia and I’m SO thankful that we never gave up on pushing their case.
Featured HCU Hero: June 2023
