Mitochondrial Medicine Program Patient Stories

Imagine losing your vision so quickly you don’t have time to prepare for what will happen next. This is what happened to 13-year-old Xavier, later diagnosed with LHON.

After severe mitochondrial disease claimed their son, a New York family relied on medical advances — and CHOP — to have a healthy daughter.

CHOP provides the answer to 26-year mitochondrial disease mystery to parents grateful for closure in their daughter’s death.

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.

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.

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.

After a decade, doctors finally provide answers and treatment for a child with a rare syndrome.

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.

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

Leigh syndrome took away Dino’s speech, but not his voice. With CHOP’s help, he found the perfect AAC device and now “speaks” easily with family, professors and friends.