One day – One family – Two liver transplants: Sisters share a very special day
The joy of welcoming a baby daughter into the world was short-lived when Rachel Golombeck's daughter, Devorah, stopped opening her eyes and slipped into a coma within days of her birth in March 2001.
The joy of welcoming a baby daughter into the world was short-lived when Rachel Golombeck's daughter, Devorah, stopped opening her eyes and slipped into a coma within days of her birth in March 2001. Tests revealed that Devorah had a rare, potentially fatal disease known as maple syrup urine disease (MSUD). The disease is named for the maple syrup scent of the urine in untreated babies. Passed down through families, MSUD affects the body's ability to break down certain amino acids found in protein, leading to a dangerous buildup if untreated.
Rachel was referred to a team of metabolic disease specialists at Mount Sinai and a relationship began between Rachel, her infant daughter, and the group of Mount Sinai physicians– a relationship so caring that Rachel could only describe it as "incredible."
Almost unbelievably, soon after Devorah's condition was stabilized, Devorah's 15 month-younger sister, Esther, received the same diagnosis. Now the team at Mount Sinai was treating both girls, monitoring them while they were on a carefully controlled diet, undergoing constant lab tests, and so many hospitalizations that Rachel lost count.
Rachel was desperate for a cure that would allow her girls to lead a normal life. She inquired about liver transplantation, an optional treatment for people with MSUD, but was told by the girls' doctors they didn't need liver transplants – not yet. A donated liver from a person who does not have MSUD would provide enough of the enzyme necessary to metabolize protein and cure the disease's symptoms. Within a few years, however, Esther had become quite ill. Devorah grew increasingly ill as well. It was apparent that transplantation was now the only answer.
Devorah and Esther were put on the liver transplant waiting list in the spring of 2009. The call came that a match for Esther was available first. The Golombeck family came to Mount Sinai from their home in New Jersey and waited for the liver to arrive. As the hours ticked by Rachel wondered what the future would hold. That afternoon while she was waiting, Dr. Kishore Iyer, Surgical Director of the Pediatric Liver/Liver Transplant Program at Mount Sinai's Recanati/Miller Transplantation Institute, approached her and told her something she could have never anticipated: Another liver had become available that was a match for Devorah. Both girls' transplants were performed within the next 24 hours.
Together, they recovered from surgery with the help of the staff, who Rachel described as "warm, accommodating, approachable people who listen to you, sympathize with you, and care for you." She said, "Bedside manner makes a world of difference for the child and the parent. They (the staff) took something so difficult and made it so much easier... Times two!"
Today, the sisters, ages 11 and 10, keep a very busy schedule. They excel in school, are active in sports, and are enjoying life to the hilt, said Rachel.