On a crisp, clear Sunday morning in early June, a Mount Sinai Health System team of more than 100 strong participated in the 2015 Liver Life Walk at Hudson River Park. Among the enthusiastic participants who walked the three-mile course and raised more than $20,000 to support the American Liver Foundation was Jennifer Long, a patient at Mount Sinai’s Recanati/Miller Transplantation Institute.
Ms. Long is the only person in the United States to have had a liver transplant due to porphyria, a disease that occurs when porphyrins—chemicals that help form many substances in the body, including hemoglobin, the protein in red blood cells—affect the nervous system and/or skin. An estimated one in 20,000 people carries the disease, which actually comprises nine separate disorders, but only 10 percent of people will experience symptoms.
Over several years, Ms. Long’s acute form of porphyria had become so extreme that her nausea; the constant pain in her back, stomach, and legs; and attacks of paralysis forced her to be hospitalized for months at a time.
In 2012, after a series of failed treatments and being rejected as a liver transplant candidate at two other medical facilities, Ms. Long, a resident of Maryland, was referred to Lawrence Liu, MD, Assistant Professor of Medicine (Liver Diseases), a specialist in porphyria and liver transplantation at The Mount Sinai Hospital. Dr. Liu and a team of medical researchers at Mount Sinai believed the best course of action for Ms. Long was, indeed, a liver transplant.
As Ms. Long moved up the waiting list for liver transplants, she was transferred by ambulance from Johns Hopkins Bayview Medical Center in Baltimore to The Mount Sinai Hospital for several months of testing and preparatory treatments.
“A transplant had never been done in the United States for a patient with porphyria, so there was no precedent,” says Dr. Liu.
“It had been done in the United Kingdom, and the early results that were published were more favorable than detrimental.” Using the results from the procedures in the United Kingdom as a guide, Dr. Liu and his team were able to proceed successfully and avoid major setbacks.
Today, Ms. Long is free of the excessive porphyrins in her body that impeded her quality of life and is grateful for her remarkable gift. “The medical team at Mount Sinai did a wonderful job of taking care of me,” says Ms. Long, who has written a letter of thanks to the family of her liver donor. For routine health care needs, she sees specialists at Johns Hopkins, and for annual follow-ups Ms. Long returns to her doctors at Mount Sinai’s Recanati/Miller Transplantation Institute.