Our patients’ stories: my child’s congenital diaphragmatic hernia

Jeanne Griffin Vaughn, NP, is a nurse practitioner at Massachusetts General Hospital. When she found out her child would be born with a congenital diaphragmatic hernia, she was thankful for her many connections in medicine, but also felt extra worry because she knew how serious medical conditions could be for children. This is her story.

At just one-day-old Jeanne’s baby needed immediate medical attention.

As an expectant parent, there’s one sentence that no one wants to hear: “There’s something wrong with the baby.” My husband and I heard those dreaded words during our first child’s ultrasound, when the baby was barely at 18 weeks gestation.

When we arrived at the doctor’s office that morning, we decided we weren’t going to ask about the baby’s sex because we wanted to let the anticipation grow over the next few months. As it turns out, not knowing if we were having a boy or girl was the easiest part of the visit.

I first suspected something was wrong when I noticed how long the ultrasound was taking. I thought my professional background would prepare me for any potential medical obstacles we might face during the pregnancy, but as the ultrasound dragged on I knew something wasn’t right. Suddenly my understanding of how many things can complicate a pregnancy was far more of a hindrance than help.

Knowing I worked in medicine, the technician was very direct in telling us that there was something pushing our baby’s heart over the right side of its chest. After a few minutes he called in a doctor to study the ultrasound, who then ordered a series of additional testing. In an instant my first-time mom excitement was gone. Baby pictures were the furthest thing from my mind; all I could think about now was genetics consultations, fetal MRIs, fetal echocardiograms and having an amniocentesis done.

Griffin today

I don’t really know how, but I somehow regained enough composure to go back and see my patients. In between appointments I scheduled medical testing for myself and managed to make a phone call to my uncle, who works as a family practitioner. Working almost entirely with adult patients with cancer, I wasn’t overly familiar with pediatric conditions; talking to him was the first time I heard about congenital diaphragmatic hernia (CDH). CDH is when a fetus develops with a hole in its diaphragm, or without a diaphragm at all. Without a barrier between the lungs and other organs, the baby’s stomach or intestine can travel upwards sometimes shifting the heart and often complicating lung development.

Not long after my uncle and I spoke a fetal MRI confirmed his suspicion: Our baby would be born with CDH. On the plus side, the amniocentesis showed “normal” chromosomes and the echocardiogram showed a strong heart. Based on the results we were apprehensive but optimistic, because deep down we knew our baby was going to be a fighter. My husband is a cancer survivor and doctors believed his chemotherapy had left him sterile. So, you can imagine my surprise when I found out near the end of my first trimester that I was was pregnant. Needless to say, this baby didn’t seem like the type to let much stand in his way.

Our little miracle deserved the best, so the next round of tests were scheduled at the Advanced Fetal Care Center at Children’s Hospital Boston. On our first visit I met with a fellow nurse practitioner, Linda Zaccinini, who made me feel incredibly safe. She joined us for our meetings and introduced us to our soon-to-be-hero, Doctor Russell Jennings. Rusty was confident and compassionate and the positivity he displayed when discussing our baby’s prognosis was a great comfort, though he was careful not to get our hopes up with promises he knew he couldn’t make.

It took more than the luck of the Irish to keep Griffin well, but thanks to his care at Children’s he’s doing great.

Rusty followed our baby’s development throughout the rest of the pregnancy and a few months later our son Griffin was born at Brigham and Women’s Hospital, then immediately rushed to Children’s Hospital Boston’s Pediatric Intensive Care Unit (PICU).

Seeing his tiny face surrounded by tubes and wires in the PICU was scary, but I couldn’t help but be amazed at the physical and psychological care he received there. The nurses went out of their way to make us all feel better. They gave Griffin a hat, teddy bear and made a sign with his name, weight, birthdate and footprints. It was a whirlwind day, but I also remember seeing Rusty shortly after I got there. After asking how I was doing he said, “Let’s go see OUR baby.”

Griffin spent the next two weeks in Children’s PICU, and was an inpatient for three weeks after that. Throughout the hospitalization, the Children’s team acted as if Griffin was their own baby, and we were happy to share with them, both the joy and the work!

Griffin is now in preschool, doing great, and his lungs are improving every year. Outside of needing an inhaler when he has a cold, his breathing problems are almost unnoticeable. He still has trouble gaining weight, but we manage that with supplements, appetite stimulants and a high caloric diet.

After having intensive surgery at just a day old, it’s amazing to see Griffin thrive. I know no two medical cases are the same, but I’m always happy to talk to parents going through a situation similar to what we lived through. We are so grateful for the care that Griffin received in his time of need, as well as the care he continues to get, so we go out of our way to connect with others who may need an extra word of encouragement.

Are you the parent of a child with CDH? Do you want to connect with other parents like Jeanne that can identify with what you and your family are struggling with? If so, please visit Children’s Advanced Fetal Care Center Facebook page and join the conversation.