Treating AT/RT: Diagnosed as a baby, today Declan is thriving.

When 15-month-old Declan Rourke was diagnosed with atypical teratoid rhabdoid tumor (AT/RT) in June 2006, the odds for survival were bleak. But Declan is one of the lucky ones who benefited from research into this rare cancer being done at Dana-Farber Cancer Institute. For more details about this discovery, download the Whitepaper.

Declan’s story of survivorship begins in New Hampshire at 6 a.m. on Father’s Day in 2006, when his parents, Tym Rourke and Mel Pepin, awoke to a sound on the baby monitor. They found Declan in his crib, having a seizure. Pepin and Rourke rushed their unconscious son to the hospital. Hours later, a CT scan revealed that Declan had a large mass in his head between the frontal and parietal lobe. He was diagnosed with AT/RT, a rare cancer that affects the brain and central nervous system. After surgery, the Rourkes were referred by their New Hampshire oncologist to Dana-Farber/Boston Children’s Cancer and Blood Disorders Center.

AT/RT is an extremely rare disease, but when it strikes, it’s very aggressive. Prior to 1997, mortality from an AT/RT tumor was nearly 100 percent within six months of diagnosis. “Like a lottery nobody wants to win, we suddenly found ourselves in a category of cancer so small, so remote, that it was easy to think there would be no place for us to turn,” Rourke says.

The referral to Dana-Farber/Boston Children’s brought “hope for beating a disease that had inflicted so few, and yet taken so many,” says Rourke. Declan’s rigorous treatment protocol at Dana-Farber/Boston Children’s – overseen by Mark Kieran, MD, PhD, director of Pediatric Medical Neuro-Oncology; Susan Chi, MD, director of the Pediatric Brain Tumor Clinical Trials Program; and Anupama Narla, MD – included 12 chemotherapy agents delivered over 52 weeks in three-week cycles, and six weeks of focal cranial irradiation, as well as several surgeries at Boston Children’s Hospital.

Originally intended for muscle cancers, Declan’s treatment protocol was part of a clinical trial led by Kieran that was designed as a follow-up to a promising 1997 study.

“Given the rarity of Declan’s cancer, it took great courage for Dana-Farber to bring resources to bear to research this disease,” says Rourke, a former member of the Pediatric Patient and Family Advisory Council at Dana-Farber/Boston Children’s. “Our family was emboldened by the bravery of this group of specialists who dedicated time to a rare disease. And we found comfort in the knowledge that although there were so few cases of AT/RT a year, this team had the expertise to give Declan the best possible care.”

“The treatment paid off – certainly in Declan’s case in terms of survivorship, but also in the broad acceptance of the protocol, with more consistent use in multiple centers,” he adds.

Today, the research continues. Recent discoveries by Charles Roberts, MD, PhD, director of the Research Program in Solid Tumors, have identified new drug targets for AT/RT. Further, it has become clear that a mutation of the gene family that underlies AT/RT also underlies at least 20 percent of all cancers, including adult cancers like of lung, brain, pancreas, ovary, liver, stomach, colon, kidney, and breast cancer.

“The implication is that the work to find successful treatments for AT/RT could translate into treatments that work on a host of other cancers, far more common, for both adults and kids,” says Rourke. “And all because Dana-Farber had the courage to research something rare.”

Declan, who turns 10 in February 2015, completed treatment in October 2007 and today has no evidence of disease. A big brother to sister Exelia, “he is a normal, happy kid in the face of something extraordinary,” says Rourke. Declan is one of a small, but hopefully growing, number of long-time survivors of AT/RT in the world, with Dana-Farber investigators leading the way.