Mitochondrial Medicine Program Patient Stories

Our team of world-renowned experts are focused on determining the best course of treatment for each patient while working with your primary care physician, neurologist and other specialists.

Appointments and referrals
Patient story

Mitochondrial Disease: Nora’s Story
After severe mitochondrial disease claimed their son, a New York family relied on medical advances — and CHOP — to have a healthy daughter.
Patient story

Leigh Syndrome/EARS2: Davis’ Story
Davis’ initial mitochondrial disease outlook was grim, but a refined diagnosis at CHOP led to treatment that put him on a path with a bright future.
Patient story

Leigh Syndrome: A Family’s Quest for Answers
When CHOP discovered the genetic mutation that caused two boys’ early deaths, their family donated $2 million to CHOP to propel mitochondrial disease research even further.
Patient story

Leigh Syndrome: Baron’s Story
When a year of bloodwork failed to uncover the cause of Baron’s progressive developmental delays, his family turned to CHOP’s Mitochondrial Medicine for answers.
Patient story

Mitochondrial Disease: Ignacio's Story
Ignacio has been a healthy and active kid since he received a liver transplant at CHOP when he was two months old, part of his treatment for a rare form of mitochondrial disease.
Patient story

Mitochondrial Disease: Dakota’s Story
Facing a tough diagnosis together, CHOP doctors offer Dakota hope and support, while she helps them learn more about her rare mitochondrial disease.