Mitochondria are the organelles in our bodies that create the energy we need to function. They also make fatty acids used in variety of the body's metabolic processes. In MEPAN there is a gene - known as MECR - that does not work properly, and this somehow interferes with the way the brain and other tissues in the body make and use energy. In particular, MEPAN affects the the basal ganglia, a part of the brain that helps coordinate voluntary movement. This is the same area affected in people with Parkinson's disease.
As a result, MEPAN patients experience developmental delays in early childhood and may have trouble learning to walk or talk. Like many kinds of mitochondrial conditions, the symptoms can vary widely. Some MEPAN patients can walk and move independently, but our sons Carson and Chase need wheelchairs for mobility, help with feeding and dressing, and assistive devices to help them communicate.
Similar to Parkinson's and Alzheimer's, MEPAN is also a neurodegenerative condition. Symptoms can fluctuate and worsen over time, and eventually it causes a loss of vision. There are only 18 patients worldwide and little is known about the condition, so doctors are unsure of the long-term implications of having MEPAN. More research is needed to understand the disorder and discover treatments that can help patients improve their quality of life.