Rafaela's Story

Connected by Heart: Three years after a complicated pregnancy, with a diagnosis of ventricular septal defect (VSD) and trisomy 21 (Down syndrome), Rafaela and her mother Carla are stronger than ever because Dr. Kathleen Walsh-Spoonhower and a team of specialists at Stony Brook have been by their side every step of the way. 

Carla Diaz, Rafaela's mother

It’s the Heart That Matters

All mothers dream of hearing their child’s heartbeat for the first time. It’s a rhythm and sound that instantly connects you to the promise of life and reality of bringing a child into the world. It’s the first sound you hear, and it connects you forever. 

This is a sound that Carla Diaz loved to hear throughout her pregnancy, but on her 24-week check-up, something was wrong. “They saw a hole in my daughter’s heart, and it was discovered that she would have Down syndrome,” Carla explained. “I was so scared. My spirit was broken.”

It was then that Carla would be introduced to Dr. Kathleen Walsh-Spoonhower, Pediatric Cardiology Specialist, and the Comprehensive Fetal Care Team at Stony Brook – a team of multidisciplinary specialists that would provide care, support and guidance from diagnosis to the birth of Carla’s baby, Rafaela, and beyond. “Rafaela had a large VSD and a diagnosis of Down syndrome,” Dr. Walsh-Spoonhower explained. “Both Carla and Rafaela would need constant monitoring and a post-delivery plan for Rafaela that would include surgery and a team of specialists to address multiple complications.” 

A comprehensive fetal care plan was coordinated for Carla and her family that included a social worker, genetic counselor, and experts in multiple disciplines, including pulmonology, ophthalmology, cardiology, nutrition, neurology, immunology and gastroenterology. Then the day came at 36 weeks when Rafaela would need to be delivered by caesarian section. 

Dr. Kathleen Walsh-Spoonhower with a framed onesie from the Diaz family.

“The day she was born everyone was there ready to take care of her,” said Diaz. “I never felt alone. There was a plan and throughout it all, Dr. Walsh-Spoonhower truly listened to me and cared for us in a way that is more than medicine; it was from the heart. You can’t teach that.” 

Rafaela would spend 40 days in the neonatal intensive care unit (NICU) with a team of experts by her side. Her journey after the NICU would be a long and difficult road to recovery with multiple surgeries at Columbia University Medical Center and a continuum of care that was coordinated for her needs by her doctors at Stony Brook Children’s. Throughout each challenge, Rafaela’s team at Stony Brook has been there, guiding and supporting the Diaz family every step of the way — from the very first heartbeat.


The Beat Goes On 

Three years later, Rafaela is a well-known and beloved patient at Stony Brook. Her team of specialists continue to support and guide the Diaz family with nutrition, physical therapy, regular check-ups and the resources they need to keep Rafaela healthy and happy. 

On March 10, Rafaela will celebrate her fourth birthday. She has learned sign language, loves to paint and is a kind and joyful child. Her mother Carla offers this advice to anyone who may be facing a difficult diagnosis or pregnancy: “Go to Stony Brook. They are more than medicine. They fix your heart.”