Justin, 8, loves playing video games and LEGO^® games on his Wii™. He zips around on his scooter — his mother, Amy, jokes he’s “a little maniac on it.” She also calls him “a real charmer.” But this sweet boy has been through a great deal in his young life.

When Justin was just 9 months old, his pediatrician took one look at him sitting in Amy’s lap and asked how long his belly had been distended. Amy was caught off guard: “I thought it was just a baby potbelly.” The doctor felt Justin’s belly and noticed his liver was enlarged. A heel prick test indicated low hemoglobin.

Amy, Justin and his dad, James, headed to a local hospital, where a blood test showed the baby’s platelet count was very high. They were referred to Children’s Hospital of Philadelphia (CHOP).

‘We think it’s cancer…’

At CHOP, an ultrasound revealed a mass on Justin’s liver. “They told me, ‘We think it’s cancer,’” Amy recalls. “I can still remember those exact words. They were scary, but I didn’t cry. I found strength I didn’t know I had that day.”

Justin was admitted to the oncology unit. A biopsy confirmed it was hepatoblastoma, the most common malignant (cancerous) liver tumor in early childhood.

During the next six months, Justin underwent four rounds of chemotherapy, followed by surgery to remove part of his liver. CHOP surgeons performed the complicated procedure — the tumor was attached to a vein that returns deoxygenated blood to the heart — with assistance from Penn Medicine’s transplant team.

“He lost over 70 percent of his liver,” says Amy, “but he avoided a liver transplant, which was huge!” After two more rounds of chemotherapy, in the summer of 2010, Justin was considered in remission.

Finding the genetic connection

Unfortunately, all was not well — and now the bad news was for Amy. She was diagnosed with an abdominal desmoid tumor, a rare tumor possibly associated with a genetic condition called familial adenomatous polyposis (FAP).

She did indeed have the inherited condition, which causes the APC gene, a tumor-suppressor gene, to be shorted and not work properly.

“I unknowingly had passed this condition on to both of my children,” explains Amy. “This was the cause of Justin’s cancer.”

A survivor, then a new challenge

Justin enjoyed six years of remission, which meant he began attending CHOP’s Childhood Cancer Survivorship Program clinics for kids who are least five years post-diagnosis and at least two years after the completion of all cancer therapy.

In the summer of 2016, however, he went from survivor back to patient after developing what seemed to be a stomach bug two weeks before school started. It went away for about a week and he made it to his first day of school, but the vomiting started again the next day. He also had two crippling headaches in that time period.

“Justin does not usually get headaches, and he hardly complains, but he was in tears and gripping his head,” says Amy. “They came on after a long day playing outside in the heat with friends. I thought it was dehydration, but somewhere in my head, warning bells were starting to go off.”

At the local ER, an X-ray of his chest and abdomen showed nothing. But something was clearly wrong. “Finally, one of his pediatricians said enough was enough and told us to see a gastroenterologist at CHOP,” says Amy. “Justin was drained and feeling pretty weak. The doctor we saw was troubled by my description of his headaches — I was so happy to have found someone who wasn’t just concentrating on the vomiting.”

An MRI showed a mass in his brain. “I knew right away that it was cancer,” says Amy, “because people with FAP are at an increased risk for brain cancer.”

Justin was admitted and was in surgery the next day. Phillip “Jay” Storm, MD, Chief of the Division of Neurosurgery, removed the tumor completely. A spinal tap showed Justin’s spinal fluid was free of tumor cells, so he was listed as standard risk. Six weeks of daily radiation of his brain and spinal column followed. His nine rounds of chemotherapy, under the care of Jean Belasco, MD, should be finished in December 2017.

Resilience and kindness

Justin’s mother remains amazed at his resilience. “He has days when he doesn’t feel well,” says Amy, “but he keeps powering through! He has been going to school and trying to have as normal a life as he can. Through it all, he has stayed so positive. If you ask him, he’ll tell you he is lucky because he survived cancer twice.”

Fear, though, is never far away for Amy. She calls FAP “a brutal beast.” While FAP increases the odds of developing desmoid tumors, hepatoblastoma and medulloblastoma, those afflicted are still small percentages within the FAP community. To have all three occur in one family is extremely rare.

“Once Justin’s fight with the brain tumor is done, his fight against FAP will not be over,” notes Amy. “Unless a miracle cure or treatment comes along, we know for certain that he will have to have his entire colon removed, because people with FAP have a 100 percent chance of developing colon cancer in their lifetime.” He will also have ongoing tumor screenings.

Despite his ordeal, Justin remains caring and thoughtful. At a recent kids’ support group the youth were asked to talk about what worries them. “At first Justin said nothing,” Amy says. “Then he said he worries about all the other kids who have cancer.”