"After receiving the CDH diagnosis, we were advised to consider termination, so we left the appointment with little hope and with no direction. " - Scarlett's CDH and CHD Story
Scarlett’s CDH story began on October 27, 2017 at her 18-week scan when we learned that she was diagnosed with a severe left-sided Congenital Diaphragmatic Hernia, with her heart displaced to the right side of her chest. She would later also receive a diagnosis for a heart defect known as a hypoplastic aortic arch with mitral valve stenosis. After receiving the CDH diagnosis, we were advised to consider termination, so we left the appointment with little hope or direction. We had been told that our baby had a ~50% chance of survival, and that if she survived, we would be facing a 6-month hospitalization. What started as a joyous day ended in devastation and confusion.
After connecting with fellow CDH parents and after hours of research, we chose to relocate to Johns Hopkins All Children’s Hospital to receive care from Dr. Kays and his CDH team. During consultation, he predicted that even with an LHR of .9 and a suspected heart defect, she’d have a 90-95% chance of survival under his care. The next several months were spent trying to figure out how to leave behind our home in Ohio, our support system, our jobs, and how to keep our older daughter in school. We were overwhelmed, but determined.
Scarlett was born in March, leading us on a journey more challenging than we anticipated. We watched as she rapidly declined and as the decision was made to place her on ECMO. After experiencing less-than-optimal oxygen saturation to the brain, the decision was also made to cool her body hypothermically to promote healing of any brain cells that were compromised. It was a terrifying experience, but I felt an unexpected sense of calm knowing that she was in expert hands and that she was receiving the best interventions available.
Four days later, Scarlett underwent a successful repair surgery while on ECMO. She was a more severe case than originally thought, with only 20% lung volume and with 30% liver, stomach, spleen, and large & small bowel in the chest. We know that based on these numbers, our local hospital would have reduced her odds of survival to 20%. We learned that Scarlett also had a secondary “aorto-esophageal defect,” in which the spleen popped through a membrane separating the left and right chest cavities. Her spleen was tucked behind her right lung. To a less experienced surgeon, it would have appeared that she was born without a spleen, and the spleen may have been left behind in the chest cavity.
After 14 days on ECMO and 22 days in the CVICU, she was transferred to the NICU where she came off the ventilator and began feeding. We faced challenges with reflux, so we scheduled the Nissen Fundoplication/G-Tube operation. One hour into the estimated three-hour operation, we were paged to a private conference room where we were met by Dr. Kays and our nurse practitioner, both still in OR gear. He decided to consult with us mid-case to determine next steps together as a team. We learned that after opening her abdomen, he was faced with an abscess on the patch of her diaphragm, likely the result of healing challenges after her previous operation. Her patch was no longer attached to the rim of diaphragm and would need to be replaced with a biologic material. The challenge is that a biologic patch may dissolve, and if the diaphragm does not grow closed, we have a significant risk of reherniation. As a result, Dr. Kays decided to strategically relocate her spleen to just beneath the patch. As the patch dissolves, the spleen should plug the hole, hopefully preventing another operation. Talk about outside-of-the-box problem-solving! Additionally, it was decided that we should delay the Nissen operation for another 6 weeks. 6 weeks later, she underwent her third abdominal operation for the Nissen and G-Tube, and we were on the road to recovery.
At 3 and ½ months old, we neared discharge. We were elated to learn that despite the oxygen loss to her brain after birth, she had a perfect brain MRI. We felt so grateful for the gentle care of both her lungs and her brain (AND thankful for the days of hypothermic cooling!). However, the discharge excitement was clouded by news that her aortic arch was not growing with her and that she would require open-heart surgery. If left unrepaired, the left ventricle of her heart would eventually go into distress, potentially leading to left-sided heart failure.
After 145 days in St. Petersburg, FL, we relocated back home to Ohio. Unbeknownst to us, our journey would remain as circuitous as it started. Two months after return to Ohio, we scheduled open-heart surgery at Cincinnati Children’s Hospital. She underwent circulatory arrest on cardiopulmonary bypass, and her aortic arch was doubled in width with donor tissue. Six weeks after heart surgery, we returned to JHACH to follow-up with Dr. Kays. We learned that her biologic patch had dissolved as expected, but we were surprised to learn that her kidney had migrated past the spleen into her chest. We canceled our flights home and scheduled surgery to repair the hernia. Her kidney was put back in its proper place, and the hole in her diaphragm was closed WITHOUT a patch! The muscle had grown enough that Dr. Kays was able to pull it closed. This has significantly decreased our future risk of reherniation. Again, we returned home to Ohio. However, 12 weeks later, scar tissue from her previous abdominal operations wrapped around a loop of bowel, and she was admitted to our local hospital with a bowel obstruction. She was transported to Cincinnati Children’s, where she underwent surgical repair of the obstruction. Throughout these post-discharge hospitalizations, both teams maintained communication with one another, collaborating on her care plan. We are so thankful for both hospitals having embraced the opportunity to collaborate with one another to ensure that Scarlett received the best treatment possible.
It has been a long year! But despite all of these setbacks, she has just celebrated her first birthday and is happier than ever. She shows no signs of pulmonary hypertension, is off oxygen support, is off almost all medications, and is feeding orally. Neurologically, she is meeting milestones and enjoys smiling and giggling at her big sister.
Scarlett’s story is long and filled with challenge, but I want to emphasize that it is a positive story of HOPE! With expert care, she has come through each of these challenges stronger than before. This year, we became a family of four. We’ve watched the waves crash into the ocean. We went trick or treating, gave thanksgiving, and decorated a tree. We’ve soaked up the sun, smelled the flowers, and giggled over bowls of ice cream. We are living out the experiences we thought were stripped away from us on diagnosis day. We’ve learned that this diagnosis can be conquered and that you can still find joy and happiness.
Our family is grateful for those who have inspired us and strengthened us with their own stories of hope. We are grateful for organizations like Tiny Hero who provide a platform for these stories and who provide families with accurate information. And we are grateful for experts like Dr. Kays who gave our family the greatest gift of all- the gift of life.