Where to begin? AJ and I went to see our perinatologist, Dr. Silver, for our routine 19 week anatomy scan.
A little background: a perinatologist is a maternal-fetal specialist and we only saw her because the state of California offers (read: pushes) tons of prenatal genetic and diagnostic screening. We opted out of most of the genetic testing, but did choose to see the perinatologist to check for markers of Down’s Syndrome and other common chromosomal disorders. The screens are done through scanning and blood tests in the first and second trimester, and if everything looks okay, that’s it. Our first trimester appointment showed no concerns and we were excited for our second follow-up appointment to get another chance at seeing the baby and finding out whether we would be having a girl or boy.
Fast forward a few weeks and we were back at Dr. Silver’s office for our follow-up appointment. We watched the baby on the screen while Dr. Silver clicked away, typing in measurements, saying this and that looked great. I noticed she spent quite a bit of time looking at something, though I didn’t know what, and she finally stopped and said that she was looking at the baby’s heart. She mentioned that one side was much bigger than the other and at that point, they should be symmetrical. She said that what she was seeing was very concerning and started rattling off a list of things we’d need to do and what we were at risk for: you need to see a cardiologist, the baby will need surgery, this is a marker for Down’s Syndrome, you will need an amniocentesis and a meeting with a genetic counselor, I’ll need to see you back. Wait, what?
We ended up talking with Dr. Silver about what she saw and the next step. They would schedule us an appointment at UCLA with a pediatric cardiologist and then we’d meet to discuss an amniocentesis, schedule us with a genetic counselor, and go over the results from the blood work they had me do that day. Total wait time for the cardio appointment and blood work: a week. The longest week ever.
My mom ended up flying out to attend the cardiologist appointment with me later that week. We ended up meeting with Dr. Sklansky, the director of pediatric cardiology at UCLA, where he did an extensive sonogram just on the baby’s heart. UCLA is a teaching school, so he had an exchange student from Thailand in the room during the sonogram. Obviously, I couldn’t tell what was what on the screen, but I could make out some of what they were saying to each other during the sonogram. This phrase sticks out specifically: exchange student: “no aorta?”, Dr. Sklansky, “it’s underdeveloped”.
After the sonogram, Dr. Sklansky took us into another room to discuss his findings. He diagnosed the baby with Hypoplastic Left Heart Syndrome meaning that the left side of the heart is severely underdeveloped and the right side is doing all the work. Essentially, the baby has only half a heart. Additionally, the pulmonary valve on the right side is much more narrow than it should be. What does this mean? First, keeping an eye on the pulmonary stenosis. If that valve narrows more, then in utero surgery will be required to open it. Second, a series of three stages open heart surgeries: the first, a few days after birth, the second at about 3-6 months old, and the third at around 3 years old. If the baby makes it through surgery, there is a 70% chance of him making it to 5 years old. Along with this are risks of other organ issues, primarily with the liver and lungs. Brain delays are also a primary concern because of the lack of oxygen the brain receives with this condition. A heart transplant may be necessary in the future. Little Luca will never be able to function the same as someone with a healthy heart and will be at risk for other types of heart problems and will need to be seen by a cardiologist the rest of his life. You can find more info about HLHS in the tab at the top right or by clicking here.
Unfortunately, Dr. Sklansky had to address our “options” with us. He informed us that many parents choose to terminate the pregnancy when faced with this type of situation. He was very compassionate in his approach of the conversation and promised to only ask me once. Of course our baby deserves a chance at life and that is not, and never was, an option for us. We asked what the chances of something like this correcting itself would be and Dr. Sklansky said, “…it would take a miracle. I believe in miracles, but that’s what it would take.”
So, what now? We have a follow-up appointment with Dr. Sklansky at the end of May. We will have another fetal echocardiogram and also meet with the surgical team. We will also tour L&D and the NICU. I have to transfer all my care to UCLA as the pregnancy is now considered high-risk.