Sofia Santo is like millions of other teens trying to navigate the mixed-up world of 2020 and, now, 2021.

She made the switch to virtual high school without a stumble. She practiced her dance routines via Zoom instead of the studio.

But one thing is quite different for this Grand Rapids, Michigan, student.

Cancer has been a too-real presence in her immediate family.

When testing showed she carried a high genetic risk of developing thyroid cancer, Sofia made the difficult choice to have her thyroid removed. Nodules on the gland had already gotten larger and made her uncomfortable.

Led by pediatric surgeon Emily Durkin, MD, and pediatric endocrinologist Christel Keefe, MD, Sofia had her operation at Spectrum Health Helen DeVos Children’s Hospital.

“My thyroid had gotten really big,” Sofia said. “And although biopsies revealed it had no cancer in it, we got it out as a precaution. It’s been a fast recovery. And I feel good about my decision.”

Nikki, her mom, is also glad.

In 2017, Nikki learned she had thyroid and breast cancer. She underwent a double mastectomy and a thyroidectomy.

When genetic testing revealed Nikki had a mutation known as PTEN, she had both of her children tested.

Sofia has the mutation, which meant she had a 48% chance of developing the cancer in her lifetime, Nikki said. Giovani, Sofia’s younger brother, tested negative for the genetic risk.

But Steve, Sofia’s dad, learned several years ago he has pseudomyxoma peritonei, a rare form of abdominal cancer.

While Nikki now shows no signs of cancer, Steve’s condition is far advanced. He can still cook meals and cheer on his family. He’s currently undergoing palliative care and hospice.

“Sofia has had some big anxiety issues with her dad’s illness,” said Nikki, a surgical support and anesthesia tech at Helen DeVos Children’s Hospital. “And she knows life can be short.”

“When it was time for Sofia to have surgery, her mom Nikki came to me personally and asked if I would do her operation,” Dr. Durkin said. “Over the past several years, Nikki has been a dedicated and important team member in the HDVCH operating room. It meant so much to me personally that she was trusting me with her daughter’s surgical care.”

She said pediatric thyroidectomy is a rare procedure and should be performed by surgeons with significant experience with that operation.

At the children’s hospital, there are two surgeons with a dedicated pediatric thyroidectomy practice. During surgery, they work together as a team, using state of the art intraoperative monitoring of the nerves that control the voice box, to prevent complications after thyroid removal.

Preventive surgery

Sofia’s nodules weren’t cancerous, but it made sense to remove it, said Emily Miller, DO, a pediatric endocrinologist with Helen DeVos Children’s Hospital. “That’s both because she was having symptoms from having such large thyroid nodules and due to her family history.”

While the majority of cancers in pediatric patients occur without a family history, “having a first-degree relative who’s had thyroid cancer increases their risk by even up to four to five times,” Dr. Miller said.

The thyroid gland plays a major role in metabolism, growth and development, regulating the body with a steady amount of thyroid hormones into the bloodstream.

Sofia will continue to take thyroid hormones, given in a small pill each day, for the rest of her life.

Her nodules came to light because of genetic testing and her symptoms. That’s unusual, Dr. Miller said.

“The vast majority of thyroid nodules are asymptomatic,” the doctor said.

Sometimes they come to light because sharp-eyed doctors or dentists notice something appears off on one side of the thyroid versus the other. Other times they are discovered when a patient gets imaging for another condition.

While about half the kids who come to the pediatric endocrinology center at Spectrum Health seek treatment related to diabetes, the center’s specialists also care for many patients who have thyroid nodules, like Sofia had.

The majority of these nodules aren’t cancer, Dr. Miller said. And even when they are, she said, “pediatric thyroid cancers have a wonderful long-term survival rate.”

Sofia remembers the most difficult part of the experience—a case of the jitters leading up to the procedure. After the surgery, she experienced minimal pain that went away quickly.

She and her mom celebrated with a pizza that night.

Before she knew it, she returned home, able to accept some comforting cuddles from Blue and Eve, the family’s two cats.

“We’re so proud of her,” Nikki said. “She was really brave and she came through this like a champ.”

Sofia’s advice for others mulling the preventive surgery?

“You’ll be doing something good for yourself,” she said. “And that it’ll be a speedy recovery.”