From Devastating Heart Diagnosis to Hopefulness and Joy

On Sunday, Briella Caniparoli celebrated her first birthday, a miraculous feat given the struggles she’s had to overcome. This is Briella’s story, from a devastating heart diagnosis before birth to hope for a bright future.

Briella with Dr. Agustin Rubio at Seattle Children’s Hospital

Christina Caniparoli and her husband, Mark, came to Christina’s 20-week ultrasound at a local hospital with no expectations except to learn the sex of their second child. Four hours later, the couple left with very different news.

“During the appointment they kept leaving the room and coming back, then leaving again,” Christina Caniparoli said. “Something was definitely not right.”

Doctors told the Caniparolis that their baby had significant heart defects, and most likely had Down’s syndrome. The parents-to-be were presented with the option to terminate the pregnancy.

“It just wasn’t an option for us,” Christina Caniparoli said. “I wasn’t ready to just accept what they were saying, but even if they were right, we would deal with whatever it was.”

Caniparoli asked for a second opinion and was referred to Seattle Children’s Heart Center, which performs about 500 heart surgeries per year. There, she and her husband met with Dr. Jeff Conwell, an attending pediatric cardiologist, as well as counselors at the Seattle Children’s Genetic Counseling Clinic.

There was no visible evidence of Down’s syndrome, Caniparoli said, but otherwise the news was not good. Baby Briella’s heart was on the wrong side of her body, and the right ventricle would not be functional as a chamber to pump blood to the lungs. But Caniparoli said the reaction from the Seattle Children’s doctors was very different.

“They were hopeful,” she said. “They made me feel like ‘we can handle this.’ I left there feeling like no matter what happened we were going to be okay.”

‘A second opinion is very important’

Dr. Sujatha Buddhe, an attending cardiologist in Seattle Children’s Heart Center and member of the Center for Clinical and Transitional Research at Seattle Children’s Research Institute, said it’s no surprise that clinicians presented pregnancy termination as an option in Briella’s case, but added that “a second opinion is very important.”

“Especially in complex cases like this, and especially at 20 weeks where a decision needs to be made whether or not to continue with the pregnancy,” said Buddhe, who has been Briella’s primary cardiologist since birth.

Soon after Briella was born, she was transferred to Seattle Children’s and at 4 months of age, had her first open heart surgery. The surgery, performed by Dr. Jonathan Chen, chief of pediatric cardiovascular surgery and co-director of Seattle Children’s Heart Center, gave the team an opportunity to really evaluate Briella’s condition.

Briella was lucky – her left ventricle was intact and functioning, which is a “better situation” than kids born only with the right ventricle, said Buddhe, adding: “The right ventricle just isn’t designed to pump against high blood pressures. It’s easier for the left ventricle to do the job.” It also didn’t seem to matter that Briella’s heart was on the wrong side.

Still, Briella’s journey hasn’t been easy. She developed complications after surgery, including a blood clot that traveled to her brain and caused a significant stroke. But she recovered and has almost no lingering effects. Caniparoli chalks it up to Briella’s fighting spirit.

“She defies the odds,” she said of her now 1-year-old. “She’s just an amazing girl. She’s thriving.”

Help from friends, family

Briella will likely need a heart transplant sometime in her early 20s, and she faces other complications of her condition – “We don’t know yet if her spleen works,” Caniparoli said – but she and her husband say they would make the same decision all over again.

“It’s not easy having a child with a complicated medical condition, and I always say, ‘Go with your gut,’” she said. “My gut told me that we could handle whatever was wrong with Briella. But we have a lot of support from family and friends as well as other parents. I just put it out there almost as soon as we knew, and I got so much support and even heard from other families who had been through similar situations. Since then, I’ve shared photos from every step of our journey.”

Buddhe suggests that all parents who get a devastating diagnosis at a prenatal ultrasound do the same.

“Knowing other families who are going through this…who can help you understand what’s in store for you and your child. That can help tremendously,” she said.