Baby needs liver? Not so fast

Medical geneticists often face challenges of diagnosis. They see a never-ending stream of puzzles. But what if the challenge is simply maintaining the patient’s health until a curative procedure is possible?

This was the case for Cameron Campbell, born at the end of 2022 to a Roswell family. Soon after birth, critically ill Cameron was hospitalized at CHOA Scottish Rite, where the emergency department detected very high blood ammonia levels. He was then diagnosed by our team with OTC deficiency, a disorder of protein metabolism. Despite a special diet and ammonia-scavenging medication, his family had to return to the emergency department more than a dozen times throughout 2023, because of recurrent illness and feeding intolerance.

The solution was in sight for months: a liver transplant. But it didn’t happen until January 2024, partly for the usual reasons (finding the right liver), but also because CHOA’s lead liver transplant surgeon was moving to Nashville.

For the time between, the Campbell family was frequently consulting our medical geneticists: predominantly Dr Gambello and Dr Murphey. Cameron’s mother Krissy Campbell says that she was often texting with metabolic dietitian Caitlin Flatley, because his specialized low-protein formula needed adjusting every week. 

“They managed his disease from day 1,” Campbell says.

“Cameron required weekly coordination to prevent him from entering a metabolic crisis,” Flatley says. “His parents were on top of knowing what to look for and getting him the support he needed.”

The family’s emergency department visits got easier, when they had an explanatory letter and someone ready to talk nurses or attendings through necessary steps. Still, little Cameron was sick and throwing up nearly every day, and his parents were searching for options. In October, they told friends and relatives that they had listed Cameron for transplant in Nashville, Chicago and Pittsburgh. It turned out that Cameron’s mother was an ideal match, and in January, she became the donor for Vanderbilt’s first pediatric living donor liver transplant.

The family is back in Roswell and monitoring Cameron’s progress. He is no longer using a gastrostomy tube and recently transitioned to solid food, although in March he had febrile seizures related to his anti-rejection medication (tacrolimus). Developmentally, Cameron is doing well, considering the stresses he has been through. He is walking, saying a handful of words, he’s energetic and social, his parents say.

Because Cameron has been taking immunosuppressive drugs, both his parents are avoiding indoor gatherings, and have delayed returning to work (he: personal trainer at a gym, she: instructional coach at a school). His anti-rejection regimen is scheduled to become less intense in April.

“We still need to be careful,” Campbell says. “We want to get back to church, gym and school, but we have put those things on hold because Cameron is immunosuppressed.”

She added that the Georgia Transplant Foundation and the National Living Donor Assistance Center supported their family through this extended journey, making it possible for them to care for their son.

This is a special edition of the Department of Human Genetics newsletter, compiled by DOHG technical editor Quinn Eastman. To reach him with questions, ideas or submissions for the Human Genetics Dispatch, please email [email protected].