Navigating child heart failure and mitochondrial disease. Dr. Heather Gatcombe shares her personal journey as a physician and mother navigating the complexities of mitochondrial disease and heart failure in her son. She discusses the challenges of diagnosis, the emotional toll of medical crises, and the journey through heart transplant. Dr. Gatcombe emphasizes the importance of understanding mitochondrial disease, the role of advocacy, and the potential future of mitochondrial medicine, including the impact of new treatments and the need for continued support and awareness.
Key Takeaways:
- Mitochondrial disease can be difficult to diagnose due to its varied presentation.
- Heart failure in children can arise from mitochondrial dysfunction.
- Transplantation is a complex process that requires a multidisciplinary approach.
- Post-transplant care involves managing potential complications and medication side effects.
- Advocacy is crucial for rare diseases to ensure access to necessary treatments.
- New medications can significantly improve the quality of life for patients with mitochondrial disease. And one of these medications is at risk of being discontinued meaning more people going back on the heart transplant list.
Dr. Heather Gatcombe is the mother of a child with mitochondrial disease and is on the Board of Trustees of the United Mitochondrial Disease Foundation and the Board of Directors of Enduring Hearts. She is an assistant professor at Emory University School of Medicine. The views expressed here are her own and do not represent those of Emory University.
https://www.linkedin.com/in/heather-gatcombe-md-3891875/
https://www.instagram.com/heathergatcombe/
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Here are more resources related to today’s topic:
- Join the fight for Elamipretide and ask FDA to approve now!
- United Mitochondrial Disease Foundation
- Mito Action- a patient advocacy group
- MitoCanada
- Mito Foundation in Australia
- Transplant Families- resources and support for families navigating pediatric transplantation
- Enduring Hearts
Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com
Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.
The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.
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