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Welcome to Samsmom. I'm Heather and this is my journey as we navigate love, loss, rare disease, hope and resilency. Our family carries a POLG-1 genetic mutation that took my two children, Jack and Samantha and most recently, my brother Ryan. It's not an easy place to be, but here we are- with humor, love and grace, here we are.

Life, Grief, Hope, Joy, Writing it Out and Loving your Mitochondria:

ARCHIVE- A Library of Stories: We started documenting our life 20 years ago- a roadmap of love, hope, change and saying goodbye
Mitochondrial Disease and A POLG Deviation: Explanations and a Future with Hope
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ARCHIVE- A Library of Stories: We started documenting our life 20 years ago- a roadmap of love, hope, change and saying goodbye

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It All Started with Samantha-

My daughter Samantha was born with a rare mitochondrial disease caused by a POLG mutation—a devastating genetic disorder that robbed her cells of the energy they needed to function. She spent her short life teaching us about courage, resilience, and unconditional love before passing away at just four years old.

Losing Samantha changed the course of my life and enabled me to understand the complexities of this disease. My brother, Ryan was diagnosed with the same deviation at age 35. He bravely fought for his life for over 15 years.

In honor and in memory of these amazing humans, I have worked alongside families, researchers, clinicians, and nonprofit organizations to raise awareness of mitochondrial disease, advocate for patients, and help fund research that offers hope for future generations. Together with an incredible community of supporters, we have raised more than $5 million for mitochondrial research, patient care, and programs that improve the lives of families facing rare disease.

Today, I serve on the Board of Directors for the United Mitochondrial Disease Foundation (UMDF), where I continue to champion the patient voice and work toward a future where families face this diagnosis with hope and options.

While this blog now chronicles my stepmom Cynde's battle with ovarian cancer, it is rooted in the same belief that has guided me since Samantha's diagnosis: every patient's story matters. By sharing our journeys—the heartbreak, the hope, the setbacks, and the victories—we remind one another that even in life's hardest moments, no one should have to walk alone.

Hi- I'm Heather. Welcome to my blog. Almost 20 years of archived life watching my loves impacted by mitochondrial disease. We have a POLG-1 mutation that manifests as mitochondrial myopathy. I have lost my two littles and a brother to this terrible disease but here we are; standing, battered, resilient, and searching for joy everyday. Thanks for being on the journey with us.

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- Welcome to Samsmom. I'm Heather and this is my journey as we navigate love, loss, rare disease, hope and resilency. Our family carries a POLG-1 genetic mutation that took my two children, Jack and Samantha and most recently, my brother Ryan. It's not an easy place to be, but here we are- with humor, love and grace, here we are.
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