For Child with Genetic Disorder, Endocrine-Oncology Team Provides Recipe for Success

As a chef in training who dreams of opening his own restaurant, Josh Gartland, 15, knows the importance of a good recipe. When it comes to the genetic disorder known as von Hippel-Lindau syndrome, which caused him to develop multiple tumors in his body, Josh also knows the value of a good treatment plan – and experts in the Endocrine-Oncology Program at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center provided one he and his family credit for saving his life.

Josh was just five years old when he started waking up every night in a deep sweat. Doctors near the family’s home in Woburn, Mass. thought he might have diabetes, but tests proved negative. When the sweating episodes began happening during the day as well, Josh was referred to Dana-Farber/Boston Children’s for further examination.

Eventually it was determined he had von Hippel-Lindau syndrome, which was causing tumors known as pheochromocytomas to grow on his adrenal glands. Located on the top of each kidney, adrenal glands produce hormones that help the body control blood sugar intake, burn protein and fat, regulate blood pressure, and respond (through the production of cortisol) to stressors like major illnesses or injury. Josh’s case was unique because he was found to have pheochromocytomas on both of his adrenal glands, which called for specialized care even after surgery.

Treated by experts in the Endocrine-Oncology Program at Dana-Farber/Boston Children’s, Josh had laparoscopic surgery at age six to remove the tumors and halt the inappropriate release of hormone growth.

Adrenal gland disorders, like Josh had, cause glands to make too many hormones; if untreated, they can result in high blood pressure, muscle and bone weakness, high blood sugar, and slower growth rates.

Josh was six when it was determined he needed laparoscopic surgery to remove the tumors and halt the inappropriate release of hormone growth. This was a rare procedure at the time, and his parents worried Josh would wind up with large scars he’d need to explain to classmates. But surgeons at Dana-Farber/Boston Children’s performed multiple small incisions and removed the tumors through the young patient’s belly button, leaving very little mark. The surgery was so successful, Josh’s father Peter Gartland says, that doctors asked if they could share Josh’s results with international surgeons already traveling to Dana-Farber to learn about the procedure. Word had gotten out about the young boy in Boston.

Josh would need to take medication every day for the rest of his life, but the tumors never came back.

 “We came in every week for check-ups at first, and then every three weeks, and then every six months,” recalls Peter Gartland. “The nurses were great to Josh. Every time he went to the Jimmy Fund Clinic at Dana-Farber for outpatient care or was admitted to the inpatient unit at Boston Children’s Hospital, they would have a new toy waiting for him.”

More importantly, Josh has remained healthy. Because he needs ongoing care from multiple specialties, his medical team includes Junne Kamihara, MD, PhD; Ari Wassner, MDBrent Weil, MD; and Christopher Weldon, MD, PhD. To help Josh and other patients like him, this team established the Endocrine-Oncology Program, which brings together experts in endocrinology, oncology, surgery, and cancer genetics to provide coordinated care to patients diagnosed with endocrine tumors. Based in one of the largest pediatric cancer centers in the world, Dana-Farber/Boston Children’s specialists have greater expertise in each sub-type of endocrine tumor than is possible elsewhere.

“One of the highest compliments we received,” says Kamihara, “came from Josh’s father. On the day he first met us after we explained that we would be working together to all see Josh during one visit, he called us ‘a program designed just for Josh.’ Our hope is that we can help many patients like Josh, providing care across disciplines that is streamlined, coordinated, and delivered as a true team. We are honored to be called ‘Team Josh!’”

As of May 2019, Josh is in vocational school training to be a chef, and enjoying life with his dad Peter, stepmom Molly, and little brother Ronan.

It has now been a decade since Josh’s treatment. Doctors have given him the green light to return to sports, and he has tried them all, but these days he’s more focused on his culinary dreams. He also loves to write and play music.

“I just take my medicine, and everything is really smooth,” says Josh.

Peter Gartland, who worked in kitchens for more than 20 years, has warned Josh about the challenges of the food industry. His son doesn’t listen; he figures if he can get through von Hippel-Lindau syndrome, nothing is out of reach. And if his father doesn’t want to partner with him on his restaurant, Josh says there is always his little brother, Ronan.

“I’m trying to get him into cooking,” says Josh.