1/ Billy’s story
Billy was diagnosed prenatally with a bronchopulmonary sequestration. During the pregnancy, mom had two separate courses of steroids to try and shrink the large and fast-growing lesion with a max CVR of 2.15. Billy was symptomatic at birth and spent 3 weeks in the NICU, complicated by respiratory failure, PPHN, and pneumonia. After surgery at 3 months, he is now thriving. Billy’s mom shares their family’s experience.
The diagnosis
In summer 2024 I found out I was pregnant with our second child. Up until the diagnosis, this had been a much easier and more relaxed pregnancy than my first—I was much less anxious—so it was a shock when, at the anatomy scan at Stanford Children’s Hospital, we were told there was a “bright patch” next to the baby’s heart: a lesion in his lungs that appeared to replace his entire left lower lobe. The lesion was big enough that it had compressed his upper left lobe and his heart was shifted all the way to the wrong side of his chest. I remember the lesion looked so big next to his tiny squished heart.
Looking at the ultrasound images on the screen, my brain was running at a million miles an hour while, at the same time, everything seemed frozen and stuck. I didn’t know what questions I should be asking. I was trying so hard not to cry that all I managed to ask was if this had happened because I’d kept forgetting to take my prenatal vitamins (answer: no, congenital lung malformations are not caused by anything moms did or didn’t do during pregnancy).
Immediately our weeks filled with appointments. A fetal echocardiogram showed that, although Billy'’s heart was squashed, it was luckily still working normally. A fetal MRI confirmed there was at least one feeding vessel going directly to the mass from the aorta. This changed our diagnosis from CPAM to BPS, a type of lung malformation that gets its blood supply from outside the pulmonary system. I got used to coming into Stanford’s prenatal diagnostic center for the weekly ultrasounds, each time holding my breath. Billy’s starting CVR at 19 weeks wasn’t too high—0.47—but at week 23 it jumped to 0.99 then the next week 1.38.
The BPS continues to grow
When the CVR hit 1.54 a few days later Billy and I had developed other complications: the mass effect from the BPS was compressing not just Billy’s heart, but now also his esophagus. I had developed polyhydramnios (a build up of amniotic fluid in the womb) because the lung mass was preventing Billy from swallowing amniotic fluid. At that point we were six weeks into the diagnosis so we felt more prepared for difficult news, but this development was still scary and disorienting. The ultrasound techs were always really kind and showed us Billy’s face on the 3D/4D ultrasound so we felt connected to him. Although it all felt like I was in a bad dream, I remember thinking I needed to be brave for Billy.
I was taken from the prenatal diagnostic center to labor and delivery where they gave me the first of two shots of the steroid betamethasone (two shots are given 24 hours apart). I think the steroids did help in Billy’s case because two days later the CVR was down to 1.1, the polyhydramnios had resolved quickly, and his esophagus appeared less compressed, even though his heart was still shifted.
The next week however the CVR was back up to 1.5 and it kept growing. I was given the second course of steroids when the CVR hit 2.15 which, again, seemed to at least stall the lesion’s growth.
Finding support
I was finding the pregnancy extremely isolating. I often felt really angry at friends and family who didn’t understand what I was going through. I stopped updating people because I found it too much of an emotional rollercoaster: if there was good news it felt minimizing to be told “that’s great”, when everything felt the opposite of great, but then whenever we’d have bad news I couldn’t deal with people’s reactions. I had found the Parents of CCAM/CPAM Babies Facebook group which really helped; it made me feel less alone to read other people’s experiences. From that group, a local mom reached out and connected me to two other moms whose babies were at different stages of surgery and recovery. These women understood every mood swing, every middle-of-the-night worry, every frustration, every ounce of grief for the pregnancy I wished I’d been able to have. Their support and understanding got me through the rest of the pregnancy.
Preparing for the birth
Into my third trimester I continued going twice a week even though the BPS became harder and harder to see on ultrasounds. Billy developed mild ascites (fluid around his belly) and mild cardiac effusion (fluid around his heart). There was growing concern about hydrops developing, but luckily that never happened.
We had been prepared during those worst weeks for a more difficult birth and possible early surgery, but when I got the final MRI at 34 weeks, everyone was amazed to see that all mass effects had actually resolved. Billy had grown so much that the BPS was back down to 0.44 CVR, his heart was back in its normal position and there was no fluid around his organs. We were told that, in all likelihood, Billy would be asymptomatic. I tried to finally enjoy the last weeks of the pregnancy.
An unexpected stay in the NICU
I was induced at 37 weeks for severe gestational hypertension that was bordering on preeclampsia. Everything is a bit of a blur but, when it was time to push, there were about ten people in the room: a NICU team, a few nurses, and two OBs. Billy was born at six in the morning. He took longer to cry than my first son. When he finally did, it was such a relief. He was placed on my chest and I kept saying “you’re breathing so well, you’re breathing so well”. I was only able to hold him for a few minutes but it meant the world.
When I went to see him in the NICU, an hour later, he was already in respiratory failure and on breathing support. He’d been put on a CPAP machine because his breathing was too fast (tachypnea) and too shallow. His chest was sucking in dramatically with every breath and he was making grunting noises. Tests also showed that he had persistent pulmonary hypertension of the newborn (PPHN).
By the third day of life his condition was still deteriorating so the decision was made to intubate. Leaving the hospital without my baby, seeing him declining, nobody knowing exactly what was wrong: that week was the hardest and most painful of my life. Because of the breathing tube, not to mention all the wires and lines attached to him, it took about four or five people to move him and, when they did, Billy would become very distressed. To not be able to hold Billy was incredibly painful. It went against all your instincts as a brand new mom. Leaving the hospital each evening without him, it felt like part of my body was missing.
Billy in the NICU at 6 days old.
Recovery and surgery
At the end of that first week, results came back showing that Billy’s respiratory failure was complicated by him having developed severe pneumonia. He started responding to targeted antibiotics and, at just over a week old, he was extubated back to the CPAP machine. In total Billy spent three weeks in the NICU. He was sent home with a feeding tube but was stable enough to wait three months for the surgery with Dr Faraz Khan and Dr Marisa Schwab at Stanford Children’s Hospital. Billy had an extralobar BPS, which means the lesion was not actually part of the lungs at all. The whole time his healthy lower left lobe had been squished and compressed by the lesion. The surgery only took 45 minutes: they removed the BPS (which ended up being around 0.7 CVR at the time of surgery) and Billy was able to keep all his lung tissue. The healthy lower left lobe expanded quickly to fill the space left behind by the BPS. After everything we’d been through, in the end the surgery was the easiest and least stressful part!
Moving forwards
It was a long road from the moment of diagnosis to get to where we are now, but Billy is doing great today. He likes mashed avocado, kisses on the cheek, blowing raspberries, eating his toes, and hanging out with his big brother. We are so grateful for the expertise of the medical team at Stanford and the compassionate care everyone showed us from the diagnosis, throughout the pregnancy, at the birth, during those painful weeks in the NICU, and to the end of his surgery. We are starting to put this whole ordeal behind us and focus on a bright, happy and healthy future with Billy. There is so much left to learn about congenital lung malformations, especially how and why they contribute to some babies being symptomatic at birth and extra vulnerable, like Billy.