It was the day they had waited for—an ultrasound was going to reveal whether their baby would come home in a pink or blue blanket. But after learning they would be the parents of baby boy, Frank and Julia Wentz were told he had multiple heart tumors. "It was our worst fear becoming a reality," says Julia.
A follow-up fetal echocardiogram confirmed he had rhabdomyomas, or non-cancerous tumors that consumed nearly the entire left ventricle on his heart. "The doctor said the tumors were the largest he had seen in more than 20 years."
Some doctors suggested a heart transplant was the best option, others said a transplant was too risky. But after further review in a care conference that included a cardiologist, heart transplant team, a genetics counselor, and Janice Byrne, MD—a University of Utah Health high-risk pregnancy specialist who cared for Julia during her pregnancy—they determined the baby had a rare genetic disease that would not require surgery. U of U Health physicians diagnosed the unborn child with Tuberous Sclerosis Complex (TSC).
TSC is a devastating genetic disorder affecting more than 1 million people worldwide, including 50,000 in the United States. Generally diagnosed during childhood, TSC causes benign tumors to form throughout the body, including in the brain, eyes, skin, heart, kidneys and other vital organs. Although relatively unknown, it is the primary genetic cause of epilepsy and autism spectrum disorder.
Once their son, whom they named Gabriel, was born, he was immediately admitted into the newborn intensive care unit (NICU) at University of Utah Hospital. Additional MRI's revealed Gabriel also had tumors in his brain, which would cause infantile seizures.
Immediately, the little boy with the full-head of black hair won the hearts of the doctors and nurses at the hospital. "It was amazing to see how much they genuinely cared about Gabriel," Frank says, "like he was their own." Doctors became familiar with Julia and Frank, too. Nurses would stop to chat with the couple in the hallways, concerned about their welfare as much as Gabriel's. "It was simple questions like 'how are you doing?' that made the difference," says Julia.
Gabriel's doctors worked together to prescribe the most effective medicines to treat his tumors and seizures. "We didn't want our baby to spend another night away from home," says Julia. "So his doctors and nurses made sure he was out of the NICU and home in time for Christmas."
Doctors initially gave their baby four months to live, but with exceptional care and attention, Gabriel is defying odds. "Doctors call him their miracle baby," she says.
Now, just a few months shy of celebrating his second birthday, Gabriel has been seizure free for more than a year and doctors at University of Utah Health expect him to thrive as he continues to live with TSC. The Wentz family maintains an active relationship with U of U Health doctors, engaging in new treatment options that fit Gabriel's prognosis.
Through it all, Julia and Frank say they've felt the support of the caregivers at University of Utah Health. "They made sure we were well informed and that we never felt alone," Julia says. "It's a blessing to know we have a family of doctors we can trust."