Zachary’s Story - Congenital Diaphragmatic Hernia (CDH) and Omphalocele

At my 12 week anatomy scan, they informed me that my baby had an Omphalocele. I knew what this was because my family happened to have a family history of a child being born every generation with one. I didn’t think I could have the gene because my mom had a son who didn’t have an Omphalocele, so we assumed she didn’t pass the gene to me. My mom told me every 5th child who had a first boy had an Omphalocele, like an old wives tale family curse. Obviously, this isn’t how genetics work and it didn’t have to be the fifth child, but it was only shown in boys. I ended up going to a high-risk specialist but felt really good about survival odds knowing I had family members who survived and had long healthy lives with no issues.

That was when we were informed our baby boy also had a left-sided diaphragmatic hernia. They said the national survival rate was 50%, but with us having two birth defects it would put us much lower odds of survival. Our Dr. said we had a 90% chance that we would find other chromosomal defects. I remember my OB calling me to discuss the results over the phone and trying to prepare me for getting back poor blood results. He said “you are young and can try again for a perfect baby.” This made everything sink in. When I heard my doctor suggest termination, it made me think they would terminate in my shoes, and it immediately sank in how much of a battle my little boy had ahead. I knew we would do everything to give him the best chance to survive and termination was not an option for us. Waiting for our high-risk blood results (10 days) felt like months. We were happy to hear no other major chromosomal defects were detected. They still recommended us to get an amnio to rule other issues. We declined. We didn’t feel good about the added risk of miscarriage, and we knew the results wouldn’t change our decision to keep him.

The biggest struggle I kept having was not being able to find another baby with both an Omphalocele & CDH that had survived. I kept Googling the defects together and would get to weird medical published articles with bad outcomes. I then took my research to Facebook. There I found an article about a doctor in St. Petersburg who had over 90% survival rate for babies born with CDH. That was only TWO hours from us! We decided to consult with him immediately. My husband emailed Joy Perkins, and we received a call back the next day. She said not to be surprised if Dr. Kays himself reached out to us. I later received a call from Dr. Kays and he said he had cared for a baby with both Omphalocele and CDH that survived and was thriving. We scheduled an appointment and had the works done: MRI, ECHO, and ultrasound. Dr. Kays reviewed all of our results, and he gave us a 90% survival rate. 90%! We felt really good about those odds.

We loved that we knew exactly who would be doing his surgery and following his day-to-day care. My husband and I agreed it was a no brainer. It would be an extra burden to relocate but we knew it was the best option. We had a scheduled C-section at 39 weeks. Zachary was born on January 30, 2017. He was immediately placed on a breathing ventilator after delivery and ended up going on ECMO later that evening. Dr. Kays decided to try to wean him off ECMO before performing his surgery. He decided to treat him like a liver down, since the liver was out in Omphalocele. Zachary was not weaning off ECMO as planned, so he did the CDH repair surgery when he was 10 days old. Zachary only had around 10% of his diaphragm and needed a large patch. From there, we continued to struggle to wean Zach off ECMO. I remember us being confused as to why. They made a few adjustments and changed his circuit. We were able to take him off ECMO after 21 days. We were extubated at 41 days and were able to finally hold him on day 42! Zachary had reflux issues and had to have a Nissen and Gtube surgery. He was on CPAP for most of our hospital stay. After 102 days in the hospital we were discharged with a Gtube and .2 oxygen levels.

The Omphalocele was not repaired yet. It was too large to repair without putting unnecessary pressure on his diaphragm and causing him respiratory distress. We waited until he was 2 years old. We decided to have this surgery done locally. We planned to do it in 3 phases, putting some of it in every 3 months. The first surgery was performed by Dr. Levy, and they found a very small diaphragmatic hernia on his right side. This only required stitches and no patch. This meant we would have to watch both sides when we have annual scans. Recovery was smooth and we only stayed in the hospital for one night. The second time was not as smooth. The doctor was able to complete all of the Omphalocele in one surgery. We were happy that he wouldn’t require a third surgery. However, we noticed Zachary was having a much harder time recovering this time around. He was sleepy and didn’t have any interest in food. After 6 days, we realized he had a bowel obstruction and required emergency surgery. They were able to repair, and we recovered much slowly after that. He was discharged after 16 days. We are happy to report we have no planned surgeries ahead of us. Zachary is an energetic, happy, and very sweet boy. Nothing seems to slow him down. He continues to amaze us with how smart and funny he is. We feel so lucky to be his parents!