Don't Miss These Signs and Symptoms of Mitochondrial Disease with Heather Gatcombe, MD | EP510

What if a patient’s multisystem symptoms, unexplained strokes, or exercise intolerance point to mitochondrial disease, but it takes 5–10 years and multiple specialists to confirm?

In this eye-opening episode, Dr. Bradley Block speaks with Dr. Heather Gatcombe. As both a physician and the mother of a son with mitochondrial disease, leading to metabolic strokes, heart failure, and transplant,  Dr. Gatcombe shares her family’s journey, from a terrifying stroke-like episode at age 7, through years of uncertainty, negative initial genetic testing, muscle biopsy confirmation, and eventual identification of a novel nuclear DNA mutation.

They explore the heterogeneity of primary mitochondrial diseases, why presentation ranges from infancy lethality to adult-onset fatigue, and key red flags: multisystem involvement, symptom worsening with metabolic stressors, and misdiagnoses like chronic fatigue syndrome, fibromyalgia, or psychiatric conditions. The discussion covers workup, multidisciplinary care, perioperative risks, and treatment. 

They stress the power of early diagnosis: better empathy, treatment changes, support groups, and hope with new therapies in the pipeline. Clinicians in every specialty need awareness, especially anesthesiologists, surgeons, and hospitalists, to prevent crises.

Three Actionable Takeaways:

• Spot the Warning Signs Early: Look for patients with symptoms in 3 or more organ systems, unexplained strokes or seizures, diabetes and hearing loss, brain lesions in basal ganglia, or symptoms that worsen with stress like fever, fasting, or surgery. Send them quickly to a geneticist or mitochondrial specialist for testing. Free options exist at umdf.org
• Protect Patients During Surgery or Procedures: For anyone known to have mitochondrial disease, talk to their mitochondrial specialist first. Avoid long fasting, dehydration, or extreme temperatures. Some need IV glucose before procedures and special care with anesthesia or certain drugs to prevent a dangerous metabolic crisis.
• Learn More and Speed Up Diagnosis: Visit umdf.org for free doctor education (CME courses), patient support groups, and the latest on new treatments. Raising awareness helps cut the long wait for diagnosis, gives patients validation, better care, and access to emerging FDA-approved therapies. 

About the Show:

Succeed In Medicine covers patient interactions, burnout, career growth, personal finance, and more. If you're tired of dull medical lectures, tune in for real-world lessons we should have learned in med school!

About the Guest:

Dr. Heather Gatcombe is a board-certified radiation oncologist at Winship Cancer Institute of Emory University and an Assistant Professor at Emory University School of Medicine. She specializes in breast radiation oncology and serves as Vice Chair for Community and Belonging. As the mother of a child with mitochondrial disease who experienced metabolic strokes starting at age 7, progressing to heart failure and transplant, she is deeply committed to raising clinician awareness, reducing diagnostic delays, and advocating for patients and families. She serves on the Board of Trustees and the Scientific and Medical Advisory Board Clinical Training and Education Committee of the United Mitochondrial Disease Foundation (UMDF).

Website: https://winshipcancer.emory.edu/profiles/gatcombe-heather.php

LinkedIn: https://www.linkedin.com/in/heather-gatcombe-md-3891875

Instagram: https://www.instagram.com/heathergatcombe

UMDF: https://umdf.org/about/board-trustees

About the Host:

Dr. Bradley Block – Dr. Bradley Block is a board-certified otolaryngologist at ENT and Allergy Associates in Garden City, NY. He specializes in adult and pediatric ENT, with interests in sinusitis and obstructive sleep apnea. Dr. Block also hosts Succeed In Medicine podcast, focusing on personal and professional development for physicians

Want to be a guest?

Email Brad at brad@physiciansguidetodoctoring.com  or visit www.physiciansguidetodoctoring.com to learn more!

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This medical podcast is your physician mentor to fill the gaps in your medical education. We cover physician soft skills, charting, interpersonal skills, doctor finance, doctor mental health, medical decisions, physician parenting, physician executive skills, navigating your doctor career, and medical professional development. This is critical CME for physicians, but without the credits (yet). A proud founding member of the Doctor Podcast Network!

Visit www.physiciansguidetodoctoring.com to connect, dive deeper, and keep the conversation going. Let’s grow! 

Disclaimer:

This podcast is for informational purposes only and is not a substitute for professional medical, financial, or legal advice. Always consult a qualified professional for personalized guidance.

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