It takes time to properly diagnose someone who has symptoms that defy easy explanation, said Dr. Jürgen Schäfer, head of Marburg, Germany’s Center for Unrecognized and Rare Diseases.
But time is often missing from modern-day doctor appointments.
“Patients don’t care whether the disease is rare or common. What matters to them is that they get help,” said Schäfer, known as Germany’s “Dr. House” after the popular TV series that followed a doctor who solves puzzling cases.
Schäfer and other experts, including representatives from CSL Behring and CSL Plasma, met on a Rare Disease Day panel organized by Healthcare Mittlehessen.
It can take years for some patients to get the right diagnosis, Schäfer said, but cases can be unraveled when doctors study preliminary reports and fully investigate a patient’s condition. Primary immunodeficiency patient Sabine Pitschula also spoke at the event, sharing her long journey to an accurate diagnosis and treatment.
“Every doctor looked at his specialty, but none looked at my symptoms as a whole,” she said. Eventually, a few years ago, an immunologist diagnosed her.
Computer technology and artificial intelligence can speed up the process, said Dr. Martin Hirsch, a Professor of Artificial Intelligence (AI) in Medicine at Philipps-Universität Marburg. Unlike human beings, AI doesn’t suffer from “confirmation bias,” that tendency to confirm one’s own assumptions and block out explanations that are outliers, such as a rare disease, Hirsch said.