Adam and I have been together for eight years, happily married for more than six, with two beautiful, healthy and extraordinarily happy and capable daughters. When we found out in June that I was pregnant with our third child, we were overjoyed. My pregnancy felt like all the others—morning sickness most of the day, exhaustion, lots of heartburn, and so much to look forward to. We were thrilled to add more love and joy to our family and quickly shared the news with our inner circle of family and friends.

In August, it was finally time for our favorite prenatal appointment: the detailed anatomy scan. Our ultrasound technician, along with Adam and I, began the session like “old pros.” Everything looked good, I could barely contain myself as I sat on the exam table, eager to meet our baby more intimately. Adam and I chit-chatted with the technician, kibitzing and laughing when we recognized familiar features on the ultrasound images—baby’s feet, fingers, heartbeat, a big nose and butt, and well-developed brain. At the end of the scan, the technician asked me to get dressed and said that the doctor would be in shortly to discuss the results.

We waited, and then waited some more. That’s when I knew this would not be a typical visit.

 

A diagnosis of CDH

Our precious baby, who was at 14 weeks gestation in utero, was diagnosed with Congenital Diaphragmatic Hernia (CDH), a rare and likely severe condition. Dr. R, a Maternal Fetal Medicine doctor, along with a genetics counselor, were assigned to our case. They quickly explained the diagnosis—a hole in our baby’s diaphragm had caused their organs to move to the top cavity of their body. The stomach was up in the chest cavity and the baby’s heart was pushed to the right side of the body. The baby’s lungs were unlikely to fully develop.

The medical professionals didn’t know if this was a random mutation or if inherited genetics had caused it. It was too soon to tell the severity of the diagnosis. Most CDH cases are not detected this early, but there is often a correlation between age of detection and severity of the disease. So much information was being explained to us. But I only heard the scary keywords: deformed, suffering, the uncertainty of survival, termination. This was the most difficult news of our life.

We had no choice but to go from tears and panic mode to understanding and problem-solving mode. We set up a second opinion with Dr. R’s colleague, who would perform an amniocentesis to help us understand genetic cause—if any. My husband Adam took the lead in determining what else we could do to be better informed and equipped to understand this news.

Adam immediately called his brother, an MD and research specialist, to help us better understand the diagnosis. We also hoped his brother could help us find experts in the field. We quickly asked our beloved nanny to stay late and come early to watch our other children so Adam and I could have time to process and attend every appointment that we could secure.

Adam’s brother said he had heard good things about Dr. N, a Perinatal Medicine and Genetics doctor, at UCSF. Apparently, Dr. N was an expert in CDH. She was possibly the best doctor in the country, if not the world, in the field of CDH. We called her office right away but were told we needed a referral from our doctor to get an appointment. Our insurance wasn’t willing to give a referral because they wanted us to get a second opinion from an in-network doctor instead. We needed and wanted to move faster than that.

Our (in-network) second opinion at Kaiser was not for another week. We couldn’t schedule additional investigative appointments until week 18 or 20 as our regular doctor’s technology couldn’t register details of our child’s anatomy until there was more gestational development. The last thing we wanted to do was to drag out the process for another four, six, or ten weeks to determine what the outcome for our precious child would be.

On Wednesday night we went for a walk at the Botanical Garden around the corner from our home. There we brainstormed who we were connected to at UCSF. Who could get us on the phone with Dr. N, the CDH expert? We thought that maybe one of the fellow parents at our daughters’ preschool might be able to help. He had worked at UCSF for 4 years—we decided it was worth a shot. After some urgent calls and emails, we were on the phone with Dr. N. by 8pm that evening.

Dr. N gave us her opinion on the next steps, which included an appointment with her as soon as possible. We got an appointment with Dr. N that next Monday morning and then scheduled an appointment with her colleague at the Fetal Heart Center on Wednesday. Over the next week came even more referrals to high-risk pregnancy specialists. We had more, longer, in-depth ultrasounds and an echocardiogram to determine if any defects in the heart were present as well.

In the meantime, I was living a horror that I never knew before. Adding to the pain of the diagnosis, I started to be able to feel the baby move. My pregnancy became more physically noticeable to people around me. I couldn’t sleep and could barely eat, and every time the baby moved, I suffered. I couldn’t finish most sentences without sobbing. Trying to stay distracted, I worked whenever I wasn’t at an appointment and spent more time with my daughters to immerse myself in their joy and play.