Episode Details

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.

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00:00 Intro

1:25 Premise: Hypothetical Case Study

2:25 Interpreting seizure activity by age

5:50 When to consider genetic testing

7:36 Limitations by geography

9:33 Types of genetic testing

10:38 Hospital-specific considerations for genetic testing

12:20 Genetic testing explained

14:50 Role of insurance and regulations in genetic testing

21:48 Hypothetical case study, continued

29:08 Misconceptions about palliative care

34:07 Palliative care in PolG

37:21 Nutrition’s role

38:27 PolG in adults

41:25 Identifying PolG in outpatients

45:18 Available therapies

50:14 Expanded Access Programs

53:08 Pretzel Therapeutics