After CDH Diagnosis Aspen Proves Resilient

After CDH Diagnosis, Aspen Proves Resilient

The day Nicoletta will never forget started out hopeful. It was April 23, 2021, and she had just started a new job. It was a Friday, and she was going in for what she thought would be a quick 20-week anatomy scan at her OB-GYN office in New Jersey. She couldn’t wait to hear her baby’s heartbeat. “I was so excited,” Nicoletta recalls.

As time ticked on, that excitement started to fade. The ultrasound seemed to be taking a long time, and the sonographer kept switching probes. Eventually, Nicoletta’s doctor came into the room. Nicoletta clenched her teeth anticipating bad news: Her daughter’s stomach and heart were not positioned correctly, and the doctor suspected her unborn daughter had a congenital diaphragmatic hernia (CDH). CDH is a birth defect where the diaphragm, the muscle that separates the abdomen from the chest, does not develop completely in the unborn baby. This causes a hole where abdominal organs can migrate into the chest, robbing the lungs of critical space to develop normally. CDH affects about one in every 3,000 pregnancies. “I had never heard of CDH before. I was aware of the big things like Down syndrome and some of the trisomy issues, but not CDH,” Nicoletta says.

Creating Connections 

After leaving the doctor’s office, she tried to learn everything she could about CDH. “I went to Google, right? And you know, usually when you Google stuff, it's something like, really, totally scary that comes up,” she explains. 

Those results led her to social media, and she began to find other families navigating a CDH diagnosis. “I noticed that there's a lot of CDH stories on GoFundMe, so I thought, let me take those people's names, especially those with success stories and just talk to them, and I was, like, literally stalking them on Facebook or LinkedIn just saying, ‘Hi, I got this diagnosis. Can you just help me?’” she said, choking back tears as she remembered those stressful moments. She found a common thread in several of the success stories. Many families sought help from David Kays, M.D., at Johns Hopkins All Children’s Hospital in St. Petersburg, Florida. The hospital has the first inpatient unit in the country dedicated solely to the treatment of CDH, and babies treated there have a survival rate greater than 90%. Nicoletta found herself in an online quest to research as much as she could … from online lectures by Kays, to scientific studies. “I had so many emotions, but I remember saying to my husband, ‘This guy, Dr. Kays, is going to do surgery on our daughter.’ I knew it before even going to see him,” she says.

Nicoletta soon learned through an MRI at a New Jersey hospital that her daughter had a hernia sac, an often-promising development that may preserve lung capacity development by delaying organ herniation into the chest cavity. 

Time to Travel 

At 27 weeks pregnant, Nicoletta and her husband, Jitendra, packed their suitcases for a more than 1,000-mile journey to St. Petersburg and Johns Hopkins All Children’s Hospital. Nicoletta flew to St. Petersburg while Jitendra drove with their 100-pound goldendoodle, Google, in tow. Nicoletta was anxious to meet Kays after all of her research. She received a new MRI and ultrasound. Then came the news Nicoletta had waited seven weeks for. “I’m giving your daughter a 99% chance she will survive,” she remembers Kays telling them. She and her husband sat in silence.

“We went through so much already and we thought this is great, and you're giving us so many chances, but we just don't want to say anything, you know, because we are a bit superstitious,” she explains. She remembers one feeling sticking with her: confidence in this new doctor, how he answered her questions, took time to explain the process, and cared to put her and her husband at ease. She liked that Kays seemed to have a roadmap for any obstacles.

“It's really rewarding to give them hope and to be totally confident in the hope we can give parents,” Kays explains. “We're up front with them, but we're still optimistic. I can't tell you how many parents just breathe this huge sigh of relief when we talk to them and tell them, we really think their baby is going to survive and have a good outcome.”

Nicoletta, Jitendra and Google the doodle ended up temporarily moving to St. Petersburg. They settled in at one of the Ronald McDonald House locations on Johns Hopkins All Children’s Hospital’s campus.

Delivery Day 

Aug. 30, 2021: Nicoletta had a scheduled c-section and gave birth to a baby girl, Aspen. She wasn’t named after the picturesque city in Colorado known for its snowcapped Rocky Mountains, but instead, the Aspen Tree. The tree is known for being extremely resistant to wildfires and regenerating quickly after a blaze. “I'm like this really matches the situation, right? The message behind Aspen, and how strong the tree is,” Nicoletta says with a smile. Aspen was immediately put on a ventilator to help her breathe but Kays said she was stable and strong.

Surgery Awaits 

At just 4 days old, Aspen was taken in for hernia repair surgery. “To be honest, I didn’t have as much anxiety as I would have expected. I trusted Dr. Kays and Dr. [Jason] Smithers,” Nicoletta recalls. Aspen spent four days on a CPAP machine and within eight days, she started feeding without the help of a feeding tube. “She had, like truly, even beat Dr. Kays’ prognosis,” Nicoletta remembers. Within three weeks, she was discharged from the hospital. It happened so suddenly that Nicoletta had to rush out to buy a car seat for their trip to the airport.

After CDH Diagnosis, Aspen Proves Resilient

“We couldn’t believe the timeline, but she was improving and progressing well,” Nicoletta says.

Kays believes one reason their program is so successful is because of the timeline they follow. “Historically, CDH surgery was delayed by some physicians for multiple weeks after a baby’s birth,” he says. “If a baby had a complication or did poorly on ECMO (a device that temporarily provides life support for heart and lungs), they might die before ever being repaired. That's not OK. So, in our program we have a treatment paradigm that really gets every child repaired by day seven or eight of their life.”

Dancing, Gymnastics and Loving Life 

Now, Aspen’s mom says she is a happy and healthy 3-year-old. “She’s so curious. She really loves learning,” Nicoletta says warmly. She practices ballet and recently started gymnastics in a facility that also trains Olympic-hopeful athletes. “She’s very active and some friends and I laugh that we don’t know what the surgery did but the way they fixed her, it’s like she’s even better than any child without the surgery because she moves non-stop.” 

This past October, the family got the best parting gift. “You don’t need to return [to the hospital for a checkup] next year. Aspen is doing amazing,” Kays told them.

“It’s a relief to hear,” Nicoletta says. “But also, a little sad, because you form a close connection to the doctors, nurses and care team that save your child’s life.” 

Nicoletta stays in touch with the other CDH families that pointed her toward Johns Hopkins All Children’s and she has found a way to pay it forward: helping to inspire others who receive a CDH diagnosis to never give up hope. 

“Aspen’s story is proof that a CDH diagnosis doesn’t define your child or their future in any way,” she says with emotion.

“It’s really cool because parents are actually more trusting of other parents than they frequently are of doctors,” Kays says. “I love that parents are helping each other with some of these tough things. I think social media can be very powerful.” 

After CDH Diagnosis, Aspen Proves Resilient

Center for Congenital Diaphragmatic Hernia (CDH)

At the Johns Hopkins All Children’s Center for Congenital Diaphragmatic Hernia (CDH) in St. Petersburg, Florida, families find hope during a time that may otherwise feel hopeless. Led by CDH expert David Kays, M.D., our team combines compassionate care, innovative techniques, and cutting-edge technology and equipment to treat babies with CDH.