Recognizing POLG: Clues, Challenges, and Diagnosis

A hospital admission can be a turning point for a patient with POLG, but only if the diagnosis is right.In this episode of The CortiCare Podcast, Dr. Amy Goldstein and Dr. Mary Kay Koenig take a closer look at what happens when someone with POLG is hospitalized. From the symptoms that bring patients to the hospital and the complications that can arise during their stay, to the challenges of diagnosis and treatment, they share insights that can have a profound impact on patient care.The conversation explores what a typical hospital course may look like, how POLG is diagnosed, and why certain treatments can be beneficial while others may unintentionally cause harm. They also discuss the importance of recognizing POLG early and how the right diagnosis can help clinicians and families make informed decisions moving forward.Whether you're a clinician, caregiver, or simply interested in rare neurological and mitochondrial disorders, this episode offers valuable perspective on one of the most complex patient journeys in medicine.Interested in what else CortiCare has to offer? Email [email protected] or click here - https://linktr.ee/CortiCare - to learn more!00:00 Intro1:25 Premise: Hypothetical Case Study2:25 Interpreting seizure activity by age5:50 When to consider genetic testing7:36 Limitations by geography9:33 Types of genetic testing10:38 Hospital-specific considerations for genetic testing12:20 Genetic testing explained14:50 Role of insurance and regulations in genetic testing21:48 Hypothetical case study, continued29:08 Misconceptions about palliative care34:07 Palliative care in PolG37:21 Nutrition’s role38:27 PolG in adults41:25 Identifying PolG in outpatients45:18 Available therapies50:14 Expanded Access Programs53:08 Pretzel Therapeutics