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.
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