Truncus Arteriosus: Alfie’s Story

Alfie’s parents discovered their baby had a serious heart condition – truncus arteriosus – at the 20-week scan. Here, his mum Jennifer tells their story:

My pregnancy was so easy. No sickness whatsoever, heartbeat detected early, normal 12-week scan, lots of fetal movement. Then, at our 20-week scan, everything changed.

After spending several minutes looking at Alfie’s heart during the ultrasound, our sonographer informed us that the image she was seeing wasn’t “normal”. She wasn’t able to give specifics, and sent us straight to a fetal cardiologist for an echocardiograph.

The same day, the diagnosis was confirmed – our baby had truncus arteriosus, a rare heart condition where the aorta and pulmonary artery do not separate out properly whilst the heart is developing. The cardiologist explained that instead of two separate arteries, our baby had one common “trunk”, along with a hole between the left and right ventricles. At the base of the trunk was a poorly-formed valve that was regurgitating, allowing blood to flow backwards into the heart. Oxygenated and deoxygenated blood were mixing, meaning that when the baby was born, too much blood would flow to the lungs (causing them to overwork), and not enough oxygenated blood would flow to the other vital organs. Essentially, in order to survive, Alfie would need major cardiac surgery within the first few weeks of life.

We were devastated. As we live in the United Arab Emirates, we had no family around to support us, and were not familiar with the medical system (other than being aware that there was no public healthcare service). The cardiologist informed us that in one third of cases, truncus arteriosus is linked with DiGeorge Syndrome – a chromosome deletion that can cause a variety of lifelong problems ranging in severity, including mental health issues, learning disabilities, and certain facial characteristics. He suggested we returned to our OBGYN for an amniocentesis test to check whether there was any link in Alfie’s case. Fortunately, the test was negative and all chromosomes presented normally.

Over the next few months, a specialist, multidisciplinary medical team was assembled. Alfie was delivered via C-section, with 18 doctors and nurses present. Being aware of Alfie’s condition meant that we knew he would be admitted to NICU the second he arrived. We knew that we wouldn’t get the magical hour of skin to skin, and we knew that when I was discharged from the hospital, we’d have to go home without him. However, as first-time parents, we had no frame of reference as to just how difficult this would actually be. We spent all day every day sat next to Alfie’s incubator, but leaving him when we went home each night never got any easier. Our own hearts broke a thousand times over the weeks that followed.

At ten days old, Alfie had his surgery. Standing in the doorway of the operating theatre and handing him over to the surgical team was beyond a doubt the worst moment of our lives. We’d been told that there was a 5 to 10% chance he wouldn’t survive the operation – all we could do was hope and pray as we waited.

Surgery lasted over ten hours in total. However, we eventually got that blessed call from the operating room – the procedure had been successful. The surgeons had successfully installed a new pulmonary artery (called a “conduit”) in Alfie’s heart. The common trunk had become the aorta. The hole between the ventricles had been closed. The regurgitating valve at the base of the trunk had been repaired. For all intents and purposes, our boy now had a completely normal heart.

At this point, the journey was far from over. Excessive swelling meant that it wasn’t possible to stitch up Alfie’s chest, so the area over his breastbone was left open and covered by a membrane. He remained heavily sedated and ventilated. A couple of hours after surgery, Alfie’s blood pressure dropped and his heart stopped. We looked on in devastation as the doctors began compressions on his tiny little chest. Fortunately, they were able to restart his heart and stabilize him again.

We’d expected a linear recovery process where Alfie would get a little better every day – however, we now know that this isn’t how recovery from cardiac surgery works (especially when the patient is so little and the surgery so complex). There were repeated “dips”, where the medical team would need to adjust Alfie’s medication in response. But eventually, after nine days, the surgeon was able to close Alfie’s chest. A few days later he was extubated. The pacing wires and chest drains were removed. At long, long last, we were able to hold our boy in our arms. We were allowed to bottle feed him for the first time, change his nappy, and dress him in his first little outfit. One glorious day, we arrived at the hospital to be informed that as Alfie no longer needed intensive care, he’d be moved to a normal ward. Five days later, we were finally able to take him home.

Early detection of Alfie’s congenital heart disease (CHD) meant that we were able to make certain arrangements in advance of his birth. We were able to secure medical insurance and confirm that Alfie’s surgery and hospitalization would be covered (this is often not the case with congenital conditions). We were able to meet the neonatal specialists and surgeons in advance, and ask all our questions. We were able to plan delivery via C-section in order to ensure that the carefully-assembled medical team were available to get to work the second Alfie was born. We were also able to psychologically prepare for the most difficult month of our lives (although no amount of notice would have fully equipped us to deal with how hard it was in reality).

Alfie’s truncus story is not over yet. At some stage in his childhood, he’ll need a second operation to replace his conduit with a larger one to support his growing heart. However, there is no reason why he shouldn’t have a normal, healthy, and (most importantly) happy life now – probably spoilt to bits by his very relieved and grateful mummy and daddy!

Find about more about Truncus Arteriosus here.