Mitochondrial disease is caused by failure of the mitochondria, which provides the majority of the energy to the cells in the human body. If a cell does not have the energy it needs to sustain life and support growth, it can die. The death of cells throughout the body can have severe consequences, including the failure of entire systems which, when left untreated, can lead to death. Mitochondrial diseases cause the most damage to the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems. Symptoms depend largely on which systems are affected, but the most prevalent ones are loss of motor control, muscle pain and weakness, gastrointestinal disorders, developmental delays, seizures, vision or hearing loss, organ failure and learning disabilities. Mitochondrial disease primarily affects children but is becoming more and more common in adults. It is a rare disease, as there are fewer than 20,000 cases in the US every year.
Mitochondrial Disease is a chronic and progressive disease that currently has no cure. The main goal with treatment is to minimize symptoms and reduce progression of the disease. Treatment options include vitamins, energy conservation, pacing activities, maintaining an ambient environmental temperature, avoiding exposure to illness and ensuring adequate nutrition and hydration.
Mitochondrial disease can be difficult to diagnose, especially since it is quite rare. The majority of people who have it are initially misdiagnosed. Some of the biggest difficulties people with the disease face are receiving adequate medical care and having their rare condition understood by others. Many patients also struggle to find medication that relieves symptoms and does not do further damage to the mitochondria. The disease can be unpredictable and at any point can cause a person extreme pain, fatigue or muscle spasms. It is an inherited disease, but symptoms may not appear until a person is well into adulthood, and it can arrive with no warning.
There are several organizations that aim to spread awareness and information about the disease, connect people who have the disease and improve their quality of life.