In 2010, the episodes started to happen more frequently. That March, Juan was hospitalized three times in one month with acute pancreatitis. After that his parents took Juan Diego to see a team of digestive experts in the United States. One of them was a fellow Venezuelan, Andres Gelrud, MD, MMSc, who had completed a fellowship at Beth Israel Deaconess Medical Center, Harvard Medical School and then moved to the University of Pittsburgh. Gelrud was able to define the problem: a genetic mutation that lead to chronic calcific pancreatitis.
Because this was so unusual at his age, they probed the family's medical history and found that Juan's maternal grandmother had similar disorder that started in her late 60's, but with much milder symptoms. Tests showed that both of them shared a genetic mutation, a small glitch in a gene known as PRSS1. This was the first such case found in Venezuela and only the second from all of South America.
The mutation led to several abnormalities in the pancreas that altered its normal function, triggering pancreatitis. The most serious was severe pain episodes and the formation of focal narrowing of one end of pancreatic duct. This meant that calcium deposits could accumulate within the pancreas, clumping together to form stones. If these stones grew too large they could get stuck, blocking the route out of the pancreas, causing severe pain and interfering with digestion.
Gelrud's team was able to provide a temporary solution. They inserted an endoscope through the mouth, down the throat, through the stomach and into the duodenum to reach the pancreatic and bile ducts, which drain into the small intestine. They opened the plugged duct and inserted a small tube, called a stent, to keep the duct open. This worked perfectly for about one year, but Juan's pain eventually returned and he had to go back to the U.S. for a follow-up procedure.
Between October 2011 and March 2013, however, Juan Diego had three acute episodes. His pain made it difficult for him to travel and he was hospitalized each time in Venezuela. His doctors there were able to clear an obstruction in the pancreatic duct, but a narrowing of the last third of the duct could not be treated in Venezuela. Juan spent of much of 2012 on pain relievers.