Rowan: Diagnosing Pediatric Cancer Using Genetic Testing

For kids with rare diseases, getting a diagnosis can be a true journey — spanning many doctors, tests, misdiagnoses, ineffective treatments and even multiple states. That was the case for Rowan and his parents Serena and Zachary.

When Rowan was just two months old, he developed a large lump on his palm, just below his thumb. The family started by visiting the emergency room in their hometown of Billings, Montana. When an ultrasound, X-ray and bloodwork results yielded no answers, Serena and Zachary turned to their pediatrician who directed the family to a dermatologist. The dermatologist did a biopsy on Rowan’s lump, a simple procedure to collect a piece of tissue for testing. Yet again, the results were inconclusive. After coming to Denver for a second opinion, they were finally directed to Children’s Hospital Colorado and experts Navin Pinto, MD, a pediatric hematologist/oncologist, and Nathan Donaldson, DO, an orthopedic oncologist and specialist in sarcoma care.

“Rowan went under anesthesia to do an MRI. And that's when the surgeons walked in and said that it was a tumor and it could be cancer,” Serena recalls. “About four days later, we grabbed our two older kids, Corbin and Adaline. They came up with us on a Sunday and then Monday morning he went under for a deep biopsy.”

After having another biopsy, Rowan was diagnosed with infantile fibrosarcoma, a rare soft tissue cancer. For most kids with this condition, doctors turn to chemotherapy or a standard type of targeted therapy that shuts down the growth signal within the tumor. But our experts used whole-genome sequencing to fully understand the genetic causes behind Rowan’s disease. Dr. Pinto learned that Rowan’s infantile fibrosarcoma was caused by a genetic fusion between the genes RAF1 and TRAC1. This mutation, or change in the DNA, is extremely rare, with only a handful of cases across the country.

This meant they would need a different type of targeted therapy — but they wouldn’t get access to it without a fight. Initially, the family’s insurance was unwilling to cover the necessary treatment. Thankfully, the family, in partnership with Rowan’s doctors, was able to appeal that decision and make a strong case for this necessary care by sharing research and heartfelt letters.

For the last few months, Rowan has been receiving the treatment he needs, and his tumor has become dramatically smaller. He will stay on this medication for roughly six months. In the meantime, he gets rechecked weekly at  Billings Clinic, a Children’s Colorado Care Alliance regional partner, while Children’s Colorado manages his care. What’s more, Serena, Zachary and their doctors in Montana are in regular communication with Dr. Pinto to ensure Rowan’s care remains seamless and effective.

And since Rowan gets to receive most of his care close to home, he gets to spend more time with two of his favorite people in the world, his siblings. Serena and Zachary say they love watching their three children learn and grow through what’s been a difficult experience.

Zach and Serena also hope that Rowan’s story helps others see the importance of medical research and new approaches to therapies.

“I hope that more targeted therapy is being done. I really do, because this particular drug has just worked so fast and the tumor started shrinking,” Zachary says.

Serena agrees. “Kids get to keep their lives. For example, Rowan got a cold last weekend, and it was just completely fine. And his brother and sister get to go to school. He gets to be a regular kid and have no idea what's going on.”