After losing three family members to POLG-related mitochondrialRelated to the mitochondria. disease, Heather Schichtel has dedicated herself to advocating for patients and families facing the same diagnosis. In this episode of Energy in Action, Heather shares her family’s journey, the importance of genetic testing and patient advocacy, and how Summit for Samantha has helped raise approximately $2 million for mitochondrial care and research. Her story is a powerful reminder of how families can turn loss into hope and progress.
Turning Family Loss Into Hope for Mito Research
After losing three family members to POLG-related mitochondrial disease, Heather Schichtel has made it her mission to help create a better future for patients and families facing the same diagnosis. In this episode, Marcy sits down with Heather to share the deeply personal stories of her children, Jack and Samantha, and her brother Ryan, whose experiences reveal just how differently POLG can affect people, from early childhood to adulthood. Heather discusses the importance of genetic testing, the challenges adult patients face in accessing specialized care, and why patient voices must help shape clinical trials and future treatments. She also shares how her family turned grief into action through Summit for Samantha, a fundraising initiative that has helped raise approximately $2 million for mitochondrial care and research at Children’s Hospital Colorado. Through extraordinary loss and unwavering advocacy, Heather’s story is a powerful reminder of what families can accomplish when they come together to fight for progress.
Learn More About MitoAction
Website: https://www.mitoaction.org
Facebook: https://www.facebook.com/MitoAction
Instagram: https://www.instagram.com/mitoaction
