Juan was looking forward to having his son, Fredy, 14, finally come home to live with him. The teenager had been living under the care of his grandmother since he was a toddler.
But on that long-awaited homecoming day, Juan was quickly jarred from feeling great joy to grave concern.
“When I saw his face, one side looked very different from the other and his lip was swollen,” says Juan. “He admitted right away that his face had been hurting.”
Juan remembered that the last time he’d seen his son — more than one year ago — Fredy’s face had looked slightly different then too. But whatever was happening, the situation had clearly become much worse since then. Something was undeniably very, very wrong.
Just in time to get help
Shortly after coming to live at his father’s house, Fredy was startled by an excruciating pain in the right side of his face. It seemed that, serendipitously, he had arrived back under his father’s care just in the nick of time. His local doctors immediately referred him to specialists at Boston Children’s Hospital.
Fredy was initially seen by Dr. Reza Rahbar, associate otolaryngologist-in-chief in the Department of Otolaryngology, director of the Center for Airway Disorders and co-director of the Head, Neck and Skull Base Surgery Program.
“Fredy had a very large tumor emanating from his nasopharynx,” says Rahbar. “It was encroaching on his brain, and had infiltrated his right sinus, completely filling it — and actually punching through it — so that the growing mass was visible under the skin of his right cheek.”
Looking at magnetic resonance images (MRIs), Rahbar suspected that the teenage boy had a rare, benign tumor called a juvenile nasopharyngeal angiofibroma (JNA). To confirm the diagnosis, Rahbar performed other tests including a needle biopsy.
“We had an answer to what was wrong,” says Juan. “We were afraid, but we waited to see how the doctors would recommend we treat the tumor.”
The rarest of rare tumors
To determine the best course of action, Rahbar teamed up with a specialized JNA task force made up of: Dr. Darren Orbach, chief of Neurointerventional Radiology and co-director of the Cerebrovascular Surgery and Interventions Center, Dr. Cameron Trenor, co-director of Stroke and Cerebrovascular Center, director of clinical research at the Vascular Anomalies Center and a hematologist at the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, as well as plastic surgeon Dr. Carolyn Rogers-Vizena and oral surgeon Dr. Salim Afshar of the department of Plastic and Oral Surgery.
JNA almost always affects adolescent boys, and is rarely — if ever — seen in girls. Mysteriously, JNAs often disappear when a young man reaches his 20s. But all too often, before reaching that age, the tumor’s rapid growth has already squeezed into the brain or blocked the airway.
Surgery is usually required to remove the tumor. In addition, medicine may be used to control any parts of the tumor that can’t safely be removed surgically. But treating a JNA is complicated because the tumor is highly vascularized, meaning it’s interwoven with blood vessels that bleed easily.
“Fredy’s tumor was very, very unusual, even as far as JNAs go,” says Rahbar. “He didn’t have nosebleeds, like we frequently see in these kinds of tumors, and the mass had developed asymmetrically toward the right side of his face, which was also very odd.”
De-risking surgery on Fredy’s tumor
From MRI images, the Simulator Program 3D-printed a model of Fredy’s skull and tumor. This gave Rahbar the ability to carefully plan out the best way to operate. Although surgery on JNAs is usually done through the nose, Fredy’s tumor had developed so asymmetrically that Rahbar knew he would have to open up Fredy’s face.
“We didn’t know anyone who had ever been through anything like this,” says Juan. “Many people prayed for us that everything would end well.”
But first, to determine if Fredy could even safely undergo surgery, Orbach needed to see if he could control the blood flow to the tumor.
“His internal carotid artery was completely encased by the tumor,” says Orbach. “Without closing that artery, the risk of cutting it during surgery was too great.”
Orbach used a catheter to thread a small, deflated balloon into Fredy’s carotid artery. Then, while monitoring Fredy’s neurological activity, Orbach inflated the small balloon to block the flow of blood. He was pleased to see that blocking the artery did not hamper Fredy’s brain function. Subsequently, Orbach inserted a special coil, closing off the artery permanently.
Sharing in his son’s ordeal
With the artery’s blood flow averted, Fredy’s surgery was soon underway.
“I had missed seeing him grow up, but he was finally with me,” says Juan, who was nervous about his son’s operation. “I wanted to see him turn 18 and live his life.”
Before surgery, Fredy was instructed not to eat or drink anything. Juan decided to join his son’s fast.
“If my son is suffering, I will suffer too,” Juan says.
More than ten hours after the surgery began, Rahbar came out of the operating room. He told a very hungry and thirsty Juan that Fredy’s operation had gone perfectly well.
Juan was overjoyed and relieved, but still worried about his son. When he saw Fredy, his son was covered in bandages. His face was so swollen that he couldn’t open his eyes or mouth.
Although the experience was trying on his father’s heart, Fredy made a strong recovery.
“If your child is sick, find someone who can best help you, even if that means traveling to the right hospital,” says Juan. “The only thing you can do is have faith in God and in the doctors.”
A bright future for Fredy
Today, what little is left of 15-year-old Fredy’s tumor — what couldn’t be safely removed — is closely medically managed by Trenor.
“It was impossible to consider getting all of the tumor out,” says Trenor. “We’ve got several more years to go until he reaches his 20s, when his tumor will likely spontaneously resolve itself.”
Under Trenor’s care, Fredy takes a medication that helps minimize blood vessel growth. This hinders the tumor’s ability to re-grow.
According to Trenor, JNA is a curable disease if it’s addressed quickly.
“We are very interested in helping as many JNA patients as we can,” says Trenor. “The more patient data we have about the disease will bring us closer to finding better courses of treatment. Hopefully, one day, we can even prevent JNAs from developing in the first place.”
Learn more about juvenile nasopharyngeal angiofibroma (JNA).