S7 • E12 Jul 18, 2025
On a scale of 1 to 10, Andrea, a Maryland resident, described her unexplained gastrointestinal pain as a 15. But despite her symptoms, it took her nearly two years to finally get diagnosed with exocrine pancreatic insufficiency (EPI), a condition in which the pancreas doesn't produce enough enzymes to help the body properly digest food. And her journey didn't end there. Along with her husband Jonathan, Andrea relied on her tenacity to find a treatment that would give her relief from her excruciating pain. Later, in Amesbury, Massachusetts, Laura has been dealing with extreme abdominal pain since she was 24. At first, her doctors were stumped, until a family member helped Laura realize she had inherited a rare condition called acute intermittent porphyria (AIP) from her father. The disorder can cause sudden attacks of abdomen pain, fatigue, nausea, and vomiting, according to the Mayo Clinic. Laura, now 47, opens up to Medical Stories about the pain and uncertainty she experienced while trying to diagnose the rare disease, as well as the solutions she's using to combat the illness and bring stability back into her life. "Diagnosis in Disguise" also features in-depth commentary from renowned experts Andres Gelrud, MD, Director, Pancreatic Disease Center, Miami Cancer Institute, and Amy Dickey, MD, and Rebecca Karp Leaf, MD, Co-Founders and Co-Directors of Mass General Porphyria Center.
