"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. We would later also receive a diagnosis for a heart condition known as hypoplasia of the aortic arch. After receiving the CDH diagnosis, we were advised to consider termination, so we left the appointment with little hope and with no 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. We felt our world being flipped upside down.
After connecting with fellow CDH parents, we made the decision 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 an estimated 35-40% lung volume, she’d have a 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 even more challenging than we anticipated. She remained relatively stable after birth until crashing on day #3. We watched as the decision was made to place her on ECMO, where she remained for 14 days. After experiencing less-than-optimal oxygen saturation to the brain, the decision was also made to cool her body to a hypothermic state to promote healing of any brain cells that were compromised. For several days, we watched her shiver, going against every one of my motherly instincts. Dr. Kays reassured me that she would not remember these days, but that as she grew older, she would be thankful to have a healthy brain.
As the surgery team rolled their equipment into room 515 of the CVICU the next morning, Dr. Kays looked her over and pulled together his team in the hall. He returned to tell us that she was too edematous to safely operate and that surgery was postponed. Each morning he arrived early to check her fluid balance and to make a determination about operating. Each morning, we had to prepare ourselves for the possibility that our baby would undergo surgery. Four days later, she was finally repaired.
She was a more severe case than we anticipated, 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%, as their survival rates are calculated to correspond with lung volume percentage. 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 22 days in the CVICU, she was transferred to the NICU where she came off the ventilator and began to eat. We faced challenges with severe reflux, so we scheduled the Nissen Fundoplication/G-Tube operation. She was unable to hold down even 5ml of milk. One hour into the estimated three-hour operation we were paged to a private conference room. I felt the blood drain from my face as I numbly walked down the long hallway to the room. We were met by Dr. Kays and our nurse practitioner, Rachael, both still in OR gear. We learned that after opening her abdomen, the team was faced with a serious infection 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; it was not safe to use Gor-Tex again. The catch is that a biologic patch may dissolve, and if the diaphragm does not grow closed, we are faced with 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, preventing reherniation and hopefully preventing another operation. Talk about “outside-of-the-box” problem-solving!
Additionally, it was decided that we should delay the Nissen operation until the abdomen was clear of infection. This meant waiting another 6 weeks. It was difficult news to process- in just moments we went from a 2-week countdown until discharge to learning we faced 8+ more weeks inpatient. However, we knew it was in her best interest to delay the operation. 6 weeks later, she underwent her third abdominal operation, and we were on the road to recovery.
At 12 weeks old after these unexpected challenges, we finally 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 a doctor concerned both about the lungs and the brain (AND thankful for the days of hypothermic cooling!). However, the discharge excitement was clouded by news that her aortic arch was not widening and that she would require open-heart surgery. If left unrepaired, the left ventricle of her heart would eventually go into distress from the extra work required to pump blood through the aorta. We later learned that at age 6 months, her aortic arch measured the width of a newborn arch.
After 99 days at JHACH and 145 days in the Ronald McDonald House, we relocated back home to Ohio. Two months later, she underwent open-heart surgery at Cincinnati Children’s Hospital with Dr. Jim Tweddell. She was placed on cardiopulmonary bypass and her aortic arch was doubled in width with donor tissue. Her cardiac team will also continue to monitor regurgitation of the tricuspid valve and stenosis of the mitral valve.
Despite her setbacks and despite undergoing open-heart surgery, she is a healthy, happy baby. She shows no signs of pulmonary hypertension, is off oxygen support, and is off all medications related to CDH, despite having been born with only 20% of her left lung. Neurologically, she is meeting milestones and enjoys smiling and giggling at her big sister.
We are forever thankful for Dr. Kays and his team at Johns Hopkins All Children’s Hospital for saving our baby, for giving her an excellent quality of life, and for his invaluable pep talks. We will always carry with us those lessons as we begin the next chapter to Scarlett’s story.