What is mitochondrial disease?
Mitochondrial diseases result from failures of the mitochondria, which are specialized compartments present in every cell of the body (except red blood cells). Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support organ function. When they fail, less and less energy is created within the cell. Cell injury and even cell death will follow. If this process is repeated throughout the body, whole organ systems begin to fail. The parts of the body, such as the heart, brain, muscles and lungs, requiring the greatest amounts of energy are the most affected. Mitochondrial disease is difficult to diagnose because it affects each individual differently. Symptoms can include seizures, strokes, severe developmental delays, inability to walk, talk, see, and digest food combined with a host of other complications.
What is Pearson Syndrome?
Pearson Syndrome is a mitochondrial disease often characterized by bone marrow failure (especially sideroblastic anemia) and pancreatic insufficiency. First described in 1979 by Dr. Howard Pearson this terminal illness presents multisystem difficulties that wreak havoc throughout the body of young children. It is believed that there are less than 100 children living worldwide with this fatal disease.
Partners in Research
The Champ Foundation http://www.thechampfoundation.org/research.html
United Mitochondrial Disease Foundation https://www.umdf.org/