Laurence Reiff – Maple Syrup Urine Disease

Laurence Reiff is one of 11 children. The Reiffs live in Leola, in the heart of Pennsylvania Dutch country, and the family is Mennonite. He was born with Maple Syrup Urine Disease (MSUD), a rare, inherited metabolic disorder that gives the patient's urine a sweet odor. People with MSUD possess an enzymatic defect that renders them incapable of breaking down certain amino acids. Without management, the metabolic disorder can cause amino acids to collect in the body, eventually leading to neurological conditions and, in the most severe cases, death. MSUD affects approximately one out of every 185,000 infants. Due to its autosomal recessive inheritance pattern, it is far more common among members of groups with limited genetic diversity.

Different Challenges, Similar Solutions

Laurence’s parents learned of his condition through a screening test. Two older siblings also were born with MSUD. Over the years, his brother and sister each received liver transplants — and then they didn't have to deal with MSUD. “I told my parents I wanted a transplant too,” says Laurence, who recently turned 18.

Shane, who recently turned 24, lives in Apollo, Pennsylvania. When he was an infant, his doctors began to suspect that he had Byler's Syndrome, a disorder that prevents the flow of bile. Further investigation produced a diagnosis of autoimmune hepatitis, in which the body attacks the cells of its own liver. This condition can cause cirrhosis and liver failure; it can ultimately result in death.

In September 1992, George Mazariegos, MD, chief of Pediatric Transplantation at UPMC Children’s Hospital of Pittsburgh , performed Shane’s first liver transplant. Shane recovered, but later faced rejection issues. And when he was 13, an unfortunate incident set him back.

“I was at cross country practice, and a guy who had chicken pox came to practice too,” says Shane. Exposure to chicken pox set off an autoimmune response, and Shane's health began to decline. He returned to UPMC Children's Hospital, and within a couple of days, his cirrhosis worsened.

With both Laurence and Shane in need of a transplant, the stage was set. A deceased donor liver became available and, on April 14, 2014, the domino procedure began.

Complex surgeries

“Domino transplants are uncommon, but we've performed more here than any other hospital. Eleven MSUD patients have passed their livers along, so 22 patients have benefited from the gifts of deceased donors and their families,” says Dr. Mazariegos. “Because of the transplant team's experience, we routinely ask MSUD patients to consider donating.”

Dr. Mazariegos notes that Shane's pediatric transplant and subsequent second transplant are unusual; only about 15 percent of patients have ever needed a second liver, but as patients continue to live with their transplants, long-term monitoring will be possible. “We have seen re-transplants function as well as the initial transplant,” says Dr. Mazariegos. “Shane is a good example of our challenge and our opportunity to follow patients through childhood to adulthood — not just for three or five years but for 15 or 20.”

The simultaneous surgeries demand an exceptional level of technical expertise and a modified approach. In this case, Laurence's surgery began first. Once the team determined that his liver would work for Shane, Shane's procedure got underway.

For a domino transplant, the team considers the donor's blood type and the size of the liver. Visible anatomy, including the condition of the connecting blood vessels, must be just right. Removing the domino liver is more complicated for this reason- the surgeon must leave the liver in a state of readiness for re-use.

For Laurence and Shane's procedures, three surgical teams worked for about 24 hours. The surgeries are timed to minimize the travel period for each liver. "When we do a domino transplant, all of the team members are involved,” says Dr. Mazariegos. "It's a demanding use of many resources, including surgeons, physicians, nurses, and technicians, but it's rewarding.”

The rewards are evident in the impressive outcomes: for all 22 domino transplant participants, the team has seen 100 percent survival. And because liver transplantation for metabolic diseases is an evolving field, the refinement of the domino procedure opens the door to the treatment of more and more children. "With organs in severely short supply, this strategy gives every child who needs a liver a better chance of getting one,” says Dr. Mazariegos.

Back to Normal

"I'd spent the last five years in and out of the hospital for rejection, but this new liver is working out great,” Shane says. "I'm feeling a lot better, and I'm working on getting a job so I can get a place on my own:' A self-effacing, quiet young man, Shane is glad his illness is no longer troubling his family. "Even though it was about me, it affected everyone else more- I was used to it, so I wasn't worried, but my parents were.”

Laurence, too, is doing well. He jumped at the chance to live a normal life after seeing the positive results his brother and sister had with transplantation. "It was quite a challenge managing MSUD, but when it was over, we were able to get rid of our MSUD stuff: special bread, the formula, different foods, everything,” he says. "I had the pleasure of pouring the formula down the drain.”

Laurence's recovery has had its ups and downs, but he's focused now on his job as a woodworker and his activity with the volunteer fire company. And he's planning a trip to Mississippi with a care organization, an adventure that would have been close to impossible before.