A few weeks before Easter 2008, Lia Cirelli, a smart, happy 11-year-old from Redding, Connecticut, who rarely got tired, sick or bored, began complaining about stomach aches. One Tuesday afternoon, Laura Cirelli watched her daughter step off the school bus clutching her stomach, pushing against her upper rib cage. The next day Lia's skin turned yellow, almost orange.
After listening to the story on the phone, the Cirellis' pediatrician told them to go directly to Bridgeport Hospital. There the situation intensified, and emergency room doctors told the family they would need to transfer Lia to Yale New Haven Children's Hospital (YNHCH) by ambulance — or, if possible, by helicopter.
Within hours, Orazio Cirelli, an equipment mechanic, and Laura, a tax assessor's assistant, found themselves listening in shock as pediatric liver expert Pramod Mistry, MD, told them their only child, adopted from China when she was 11 months old, appeared to have a rare condition called Wilson's disease. Lia's body had been retaining copper since birth, and now a buildup of copper was causing her liver to fail. Conclusive tests would take time, and although Lia was awake and articulate, she only had a few days at most to live. The only cure was a liver transplant.
Lia's age and acute illness thrust her toward the top of the donor list, but the initial liver that became available wasn't suitable. So family and friends came, one by one, to New Haven to be tested to see if they qualified as living donors. Incredibly, a 27-year-old social worker and distant relative of the Cirellis' — who was in Connecticut for the Easter weekend — turned out to be a match.
On Easter Sunday 2008, Lia Cirelli became the second patient in Connecticut — and the first child — to receive part of a liver from a living donor. Though she'll take immunosuppressant drugs for the rest of her life, her parents are now walking with her daily, and her doctors say she is "perfect." "There were probably a thousand pieces that had to come together to make this work, and they all just fit. It was just a miracle," said Laura Cirelli.
"Lia Cirelli's lifesaving transplant was a tipping point for YNHH as an institution and a decisive demonstration that we have entered a new era in treatment of children with life-threatening liver diseases," said Dr. Mistry, director of the Inherited Metabolic Liver Disease Clinic at Yale New Haven Children's Hospital and professor of pediatrics and internal medicine at Yale School of Medicine.
Lia's life was saved by the quick diagnosis and life-sustaining medical treatment before transplant, guided by Michael Schilsky, MD, medical director of the adult liver transplant program and renowned expert in Wilson's disease. Other contributing factors included the coordinated efforts of the transplant team to get critical information on potential donors quickly, and the ability to perform the transplant at YNHH, avoiding a risky transport elsewhere. "There can be a lot of problems, unknowns and surprises in the OR, many potential complications and variations in the way a transplant surgery can be done," said Sukru Emre, MD, director of Yale New Haven Transplantation Center (YNHTC), and section chief of organ transplantation and immunology in the department of surgery at Yale School of Medicine. "Any surgical procedure done for a living donor liver transplantation requires perfect preoperative planning, including preparing both the donor and the recipient for surgery, with a complete work-up and logistics. This requires a great team effort led by a skilled and experienced transplant surgeon," he said.