Ally and Jimmy, from Palm Coast, Florida, tried for nearly two years, enduring various fertility treatments, to conceive their first-born son, Jaxson. They were overjoyed as the pregnancy progressed, but the tone changed at Ally’s 19-week anatomy sonogram. Jaxson was diagnosed with congenital diaphragmatic hernia (CDH), a rare birth defect in which a hole in the diaphragm causes organs to migrate up, restricting lung growth — a life-threatening condition.
“As you could imagine, getting the diagnosis when we thought we were out of the woods, now in the second trimester, and thinking everything’s OK after years of trying to conceive — it was very difficult,” Ally says.
Neither Ally nor Jimmy had heard of CDH. Some of her doctors, like many across the country in such cases, recommended terminating the pregnancy. But stars aligned, as Jimmy is a paramedic who had a firefighter friend with a sister who is a nurse and worked with David Kays, M.D., at UF Health and Shands Children’s Hospital in Gainesville, Florida. Kays specializes in taking care of babies with CDH and is now the medical director of the Center for Congenital Diaphragmatic Hernia at Johns Hopkins All Children’s in St. Petersburg, leading the first unit in the country exclusively dedicated to these patients with survival rates that exceeds 90 percent.
“My other doctors are well-meaning, they think that they’re trying to save parents from having a heartache by suggesting termination,” Ally explains, “but they just don’t know that there’s so much hope out there with Dr. Kays and his team.”
Jaxson, now 7 years old, was one of the last babies Kays treated at Shands and has had many follow-up appointments with him over the years at Johns Hopkins All Children’s. Today he is thriving — excelling at basketball and eager to take guitar lessons.
When Jaxson was 12 months old, Ally and Jimmy were surprised to learn they had another baby on the way, a happy, healthy baby girl, who is now 5.
Then 2½ years later came another baby girl named Adelyn — “Addy.” But when it was time for her anatomy sonogram, it was like “being hit by lightning twice” for Ally and Jimmy. Addy also had CDH.
“It was extremely shocking. We definitely did not expect that. But Dr. Kays called us right away and it’s reassuring to know the capable hands that are going to be taking care of your baby and that there is a team that lives and breathes CDH,” Ally says.
“CDH occurs in about one in every 3,000 live births,” Kays says. “Once a family has had one kid with CDH, that changes from a one in 3,000 risk to one in 100 risk. We’ve treated siblings before, but not quite like Jaxson and Adelyn.”
For most families who have a second child with CDH, they’re most likely to be along the syndromic route, which means there is a genetic or chromosomal anomaly.
“A syndrome is a group of anomalies that occur together, so they run around as a group. But for the majority of patients, we don’t fully understand the cause of CDH,” Kays says.
To date, Kays has taken care of more than 600 babies with CDH.
“There were a couple families out of this 600 who had a close family member with CDH, but this family was really the only one that didn’t present in a syndromic fashion. So if you ask how many families had CDH that were from the same mom and I treated both of them from the beginning, this is the only one.”
Treating a baby with CDH isn’t just about repairing the hole in the diaphragm.
“The reason we are so well-known and why people come to us, is because of our complete understanding of the whole physiology of CDH,” Kays says. “The biggest challenge in kids with CDH is not just the surgery to fix the hole in the diaphragm. It’s how do you take care of kids whose lungs are fundamentally small and guide them through all the physiologic changes that occur in the first days and weeks of life.”
CDH is a spectrum of severity and in Jaxson and Addy’s case, Jaxson was a bit more severe. Jaxson needed the most aggressive form of life support, a heart-lung bypass called extracorporeal membrane oxygenation (ECMO) and a feeding tube. Kids with CDH need in-depth care, as it can affect them in many ways — from their hearts, gastrointestinal and neurological systems and ability to eat. While Jaxson and Addy had very different cases, treatments and surgeries, they still share a very special bond and keep an open dialogue about CDH in their house.
“Even though Adelyn is so young, she’s noticed her scar lately, and talks about how she and Jaxson have matching CDH scars and especially because they’re both on the left side,” Ally says. “It’s kind of a funny fact, but Dr. Kays has a very distinct scar. His are so clean and precise and as they get older, it’s almost non-existent. So, it’s kind of cute that they have that matching scar, and it looks literally the same.”
Intrigued by everything about medicine, Jaxson wants to be a surgeon one day, inspired by his CDH diagnosis and time spent in the hospital.
“He is so caring, loving, compassionate and extremely smart,” Ally says. “And Addy, she’s such a tough girl. She’s very sweet, loves making everybody laugh and her favorite things are building her brother’s Legos and playing with baby dolls.”
“They’re a great family. It’s so rewarding seeing them together, and what’s really special is just supporting mom and dad because this was quite the curveball when they received the news they had another baby with CDH,” Kays says.
Ally and her family recently moved to Oregon, but they plan to travel back to see Kays in St. Petersburg for follow-up appointments in the coming years.
“Anytime that we see the team for follow-ups, it's very emotional because you get so close to them that they feel like family,” Ally says. “For other parents who had a first baby with CDH, that shouldn’t be a deterrent for parents to not to have more kids because they’re scared. It’s a hard roller coaster to go through, but it’s worth it in the end, I would not trade Adelyn (or Jaxson) for anything in the world.”