Most parents have never heard of congenital diaphragmatic hernia (CDH), a rare and potentially life-threatening condition in which a baby is born with a hole in the diaphragm, the muscle that the body uses to breathe. This can cause the intestines and other abdominal organs to move into the chest, which prevents normal lung development. But Isandro and Vaneusa Borges knew all too well what it meant.
The couple, who were both medical residents in Brazil when they were pregnant with their youngest daughter, Rafaela, had learned about CDH in their training. In fact, Vaneusa specializes in obstetrics and gynecology. So when an early ultrasound revealed that Rafaela would likely to be born with a severe form of CDH, “we were devastated,” says Isandro. They began weighing their treatment options and deciding where to travel for treatment.
‘A lot more hope‘
Although they considered traveling to a hospital in Switzerland or staying in Brazil, the Borges family ultimately decided to come to the CDH Program at Boston Children’s Hospital. “We have relatives in Massachusetts and knew we would need to be here for a long stay,” explains Isandro. But their decision was based on more than convenience. While still in Brazil, they had reached out to Dr. Terry Buchmiller in the CDH Program. “She’s amazing,” says Isandro. “She explained clearly what the surgery would involve and what to expect. We had a lot more hope after speaking with her.”
After their residency, Isandro and Vaneusa returned briefly to their home country of Cape Verde before coming to the Advanced Fetal Care Center in April 2017. That August, Rafaela was born at Brigham and Women’s Hospital and immediately transported to nearby Boston Children’s. The CDH affected her stomach, liver, and some of her intestines, leaving her left lung so small that she required extracorporeal membrane oxygenation (ECMO). This advanced technology functions as a replacement for a critically ill child’s heart and lungs while they await surgery.
A force to be reckoned with
Rafaela underwent CDH repair with Dr. Konstantinos Papadakis when she was just 12 days old and remained in the hospital for four months. Her parents say that her stay was made easier by the support of the staff in Boston Children’s intensive care unit.
Since returning to Cape Verde, the family has come back to Boston periodically for follow-up appointments with Dr. Buchmiller, Dr. Thomas Kulik, and Dr. Gena Heidary. The CDH team has worked closely with Dr. Rachel Rosen and registered dietitian Tracie Clarke in the hospital’s Aerodigestive Center, who have helped get Rafaela’s retching under control. The latter have also transitioned her from continuous G-J-tube feeds to gastric feeds using a blended diet through her G-tube, without affecting her lung function. Despite their own medical training, “we forget that we’re doctors when we’re here,” says Isandro. “We’re just parents.”
Today, Rafaela is an energetic toddler who loves playing and perusing YouTube for the latest kid-friendly songs — current favorites include “Johny Johny Yes Papa” and “Baby Shark.” And her parents are realizing that she’s a force to be reckoned with. “We didn’t want to push her because she’s been through so much,” says Vaneusa. “But she’s starting to push back herself. She’s a really strong little girl.”
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