Mayo Clinic solves genetic mystery of woman's lifelong ultra-rare disease

For nearly five decades, Patti Shultz's life was defined by debilitating health conditions that restricted her abilities and caused her to feel isolated. In 2020, after an exhaustive, nearly five-decade arduous journey of ongoing medical evaluations and misdiagnoses, Patti’s health care team, led by Lisa A. Schimmenti, M.D. in Mayo Clinic’s Department of Clinical Genomics, interrogated her genome with great precision and pinpointed her disease-causing gene mutation.