Alex was born in 2009 with a very rare and complex form of Congenital Heart Disease (CHD) called Right Atrial Isomerism. There are numerous physiological abnormalities (I’ve listed several below from his original discharge summary in case you want to compare to your own child’s diagnosis), but to simplify, the top of Alex’s heart formed with two right-sided atria that were open to each other, and he had a single-ventricle that was pumping blood to both his body and his lungs with every contraction.
Like all kids born with complex CHD, Alex has been through numerous diagnostic and interventional procedures: multiple cardiac catheterizations, sedated echocardiograms, ultrasounds, x-rays, and countless ECG’s and bloodwork-pokes. He’s also been through three major open-heart surgeries:
2009: Glenn procedure and Coles vein repair performed to disconnect the pulmonary artery and superior vena cava from Alex’s heart, and instead connect them together. His pulmonary veins were also moved to allow for proper drainage into the top of the heart. At the completion of this operation, Alexander’s heart no longer pumped directly to his lungs. Blood oxygenation occurs through passive venous pressure across the lungs at the end of the systemic cycle. There was still significant mixing of oxygenated blood from the lungs, and deoxygenated blood returning to his heart from his lower body.
2011: Intracardiac fenestrated Fontan procedure performed to disconnect the inferior vena cava from the heart, and connect it instead to the pulmonary artery using a Gore-Tex conduit built through the centre of Alex’s heart. At the completion of this operation, there is minimal blood mixing as the deoxygenated blood returning from Alex’s lower body now passes through the conduit directly to the pulmonary artery. Some deoxygenated blood still leaks through an intentional hole left in the conduit called a fenestration, which helps normalize the pressure in the system.
2013: Fontan / Coles revision performed in an attempt to eliminate a narrowing (stenosis) of Alexander’s pulmonary veins, potentially caused by contact between the veins and the Fontan conduit exiting the heart. During the procedure, the Fontan was narrowed and repositioned, and pulmonary veins were moved slightly and cleared of scar tissue buildup. The operation was ultimately successful and the pulmonary vein stenosis was resolved, but Alex has had a few episodes of tachycardia since that had not occurred before this surgery took place. Alexander’s fenestration remains open; the most recent attempt to close it in 2014 through catheterization, unfortunately, failed.
As many along the Fontan path know, this series of operations is palliative in nature and is intended to allow Alexander to live as long as possible with the heart he was given. He will need a transplant at some point in the future, hopefully many years from now.
Daily life is actually pretty normal most of the time. He has a reduced exercise tolerance and needs to take breaks sometimes, but he’s still a very active and happy little boy.
Alex loves building things, whether from Lego or in Minecraft, and he loves playing with his big sister. He can be quite sentimental and sometimes exhibits behaviour I would say is borderline obsessive when it comes to letting go of a subject; he certainly needs to understand when something is going to happen, if it can’t happen right now. Alex has some difficulty with new people and new situations at times, I think maybe due to his experiences in hospital, but it’s nothing he hasn’t been able to overcome. He is a bright, and caring little guy, and makes me very proud to be his Dad.
We’ve been told on several occasions by a number of different people, that “there’s just something special about him”.
I think they’re right.
Alex’s original cardiac diagnosis:
- Right Atrial Isomerism (RAI)
- Total Anomalous Pulmonary Venous Drainage (TAPVD)
- Unbalanced AVSD
- Hypoplastic Right Ventricle
- Double Outlet Right Ventricle (DORV)
- Bilateral Superior Vena Cava (SVC)
- Common Atrium
- Pulmonary Stenosis
Other physiological abnormalities associated with his condition:
- Asplenia (no spleen)
- Liver lying midline, and to the left
- Stomach lying to the right
- Enlarged right kidney