Jax's Story - Congenital Diaphragmatic Hernia (CDH)

This is going to sound crazy, but the minute I saw “positive” on that pregnancy stick, I knew something was wrong. I had literally no reason to believe that something was different or off course, but I just knew. It was a very weird feeling. I didn’t want to get excited, but I coughed my fear up to nerves. I know it may seem like an afterthought, like hindsight is 20/20, but I’m telling you, it was the moment I confirmed the pregnancy. Some people don’t know that while most Congenital Diaphragmatic Hernia (CDH) cases are determined at the 20 week ultrasound (which ours was), it was the 12 week ultrasound that started it all for us. I won’t go into too much detail, but from 12 weeks on, we were undergoing genetic testing, blood work, and an amnio to determine if Jax had any life threatening trisomies, which were suspected based on measurements at that first ultrasound. In a way, my husband and I were prepared to lose our baby from 12 weeks on. The depression and sadness that set in was unreal. We were so incredibly irritable with everyone, including each other. We felt selfish for feeling sad knowing we had a perfect baby girl already. We were angry and terrified and quite frankly, confused. What had we done wrong?

When I was 19 weeks pregnant, we finally got the results back from our testing (after 2 delays and having to test new cultures). We found out Jax had no trisomies and that he was a boy!! We were SO thrilled. Beyond happy. I remember laying on our guest room bed beaming, asking the geneticist to confirm the good news she’d just shared. Not even a week later, we went in for our 20 week anatomy scan, which is when we found out about Jax’s CDH. I’m not sure what was worse – having that week of joy and relief, only to be punched in the gut, or if it would’ve been easier to have found out all at once and spare us the moment of joy.

After we met with CHOP and Jax’s soon-to-be team, we were terrified; how could we get excited about welcoming our baby boy into the world without knowing for sure he’d survive? The odds were absolutely, 100% stacked against Jax from the get-go; his team refused to give us any numbers - no “best guess” survival rates, no “most likely” scenarios. As much as I hated it in that moment, they did not want to give us false hope, which helped us adjust our expectations.

In the end, my husband and I decided we’d rather know our baby boy for 30 seconds than live a life wondering “what if”. I know it sounds silly, but in my mind, I felt like if I didn’t believe he’d be a fighter, he’d somehow get that message through me while he was in the womb, and then give up on himself (that sounds even crazier when I type it out) so I refused to have anything but hope. I read countless success stories and refused to look at anything else.

The first 48 hours with Jax were mind-numbing. We felt very out-of-body, like this was happening to someone else. When we were finally taken down to the NICU to meet our boy, there were countless nurses and team members in his room, determining if he needed to be put on ECMO. The moment I saw him, hooked up to so many machines, fighting for his life, I threw up. It was the most visceral response I’d ever had to anything in my entire life. We left his side that first night with the knowledge that he had a higher than 50% chance of going on ECMO. Not even 5 hours later, we got the call from the NICU to come back down. My husband ran down and they said, “We need you to sign this form so we can put your son on ECMO. We need your permission to do whatever it takes to save your son’s life.” We were paralyzed with fear.

But as the days went on and Jax got stronger, he flourished. I was with him every single day he was in the NICU and every time I’d leave him I’d say, “No surprises, little boy. “ I still tell him that a year later. That’s the thing about CDH. It’s fickle and sneaky. Problems can arise at any time and a simple cold can be life threatening. But in this first year of life, if there is anything Jax has proven, it’s that he is a damn survivor. He has and continues to beat the odds and he proves everyone wrong ALL THE TIME. Watching him succeed has been so humbling, so inspiring, and has encouraged me to have faith in a tiny little human.