Mitochondrial Disease Patient Stories

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.

Ryan, 12, has mitochondrial disorder and eosinophilic esophagitis. With the help of specialists, he’s able to attend classes at school.

Louie began suffering from a form of mitochondrial disease when he was 11. Now 18, symptoms of his disease have been reduced through exercise.

The D’Aria family lost their daughter, Giuliana, to a serious form of mitochondrial disease. Their story highlights the importance of funding research.

Matthew, 46, and Joshua, 42, are brothers who participate in studies that may lead to new treatments for their condition, mitochondrial disease.

Patrick is cared for at Children’s Hospital of Philadelphia for mitochondrial disease. His parents have become committed supporters of research.

Specialists at Children’s Hospital of Philadelphia diagnosed Lincoln, 5, with mitochondrial disease and constantly personalize his care. 

Juliet is the first patient in the world to be diagnosed with a rare form of mitochondrial disease. The breakthrough discovery led to the diagnosis of 80 additional patients worldwide.