Amazing Medical Story. I think it's truly inspirational how innovative medicine is. People come in everyday with a variety of disorders or diseases that they are hoping that we can treat. This story is about a little boy with a rare disease that a doctor was able to come up with treatment for. It's so nice when we are able to help those in need!
BY JOSHUA MOONEY
At just a few months old, Sam Zarpas of Norfolk, Va., faced a dangerous medical crisis unprecedented in babies his age. It began with a rare autoimmune disorder called idiopathic thrombocytopenic purpura (ITP), for which local doctors treated him with steroids — the standard treatment, though the medication often impacts growth in children.
This worked initially, but a few months later, Sam’s eyes turned yellow; he had become jaundiced, indicating liver failure. Doctors thought he had autoimmune hepatitis, in which the body’s immune system attacks its liver. More steroids were prescribed but didn’t help, and his parents were frustrated and scared. “Health-care [professionals] here couldn’t figure out what was going on,” says his mother, Cindi, “but they kept pumping him full of steroids. They didn’t want to think outside the box.”
Fortunately, Cindi was friends with a doctor at Children’s Hospital of Pittsburgh of UPMC, so Sam’s liver biopsy was sent there. It attracted the attention of Dr. Benjamin Shneider, director of pediatric hepatology: “It’s rare to have ITP at 2 months [and] rare to have liver disease at 7 months,” Dr. Shneider says. “Were the two problems connected? That was the rub. Sam also had significant side effects from the steroids — high blood pressure and growth trouble. He was very sick.”
Though Sam was initially evaluated for a liver transplant, Dr. Shneider knew that this major surgery might prove only a temporary solution. He felt that the key to Sam’s immediate and longterm health would be a thorough and accurate diagnosis of his unheard-of combination of conditions.
Examining Sam’s liver cells, Dr. Shneider saw evidence of the rare giant cell hepatitis, and a condition called Coombs’ positive hemolytic anemia, in which antibodies destroy red blood cells. “But in Sam’s case, antibodies were destroying his [blood’s] platelets,” Dr. Shneider explains. “My take was that he had a disease similar to the Coombs’ subset of giant cell hepatitis, but instead of Coombs’, he had ITP. This situation was effectively unique.”
Dr. Shneider felt the medication Rituximab, used for overactive immune systems, could work for Sam, though it had never been used for his specific situation. “We were in uncharted waters with the experimental use of medication on someone so young,” says Cindi, “and the potential side effects were awful! But Dr. Shneider had a wonderful demeanor and confidence, and he kept us calm.”
Sam received four weekly doses of Rituximab, and within three months, his blood clotting factors and liver enzymes were just about normal. Doctors tapered his steroids to a minimum, ending his high blood pressure and growth problems. “He’s 3 now, and you’d never know he was sick a day in his life,” says Cindi. “He’s walking, talking, the right size and shape.”