Why is mitochondrial disease so tough to diagnose?
Dr. Richard G. Boles: Mitochondrial disease affects many different levels. All the cells in the body require energy. If there’s not enough energy, any number of cells can fail. Mitochondrial disease can cause problems to any part of the body. Because mitochondrial disease can show up as many different things and because there’s not one perfect test for mitochondrial disease, diagnosis becomes very difficult. What are the advantages to catching the disease when the patient is very young? Dr. Boles: Some patients with mitochondrial disease do progress and get worse over time; others have more stable courses. What’s most common is an intermittent course in which the disease will come and go. With treatment, most patients do improve to some degree – some dramatically. What are some of the treatments that you use for it? Dr. Boles: Many of the treatments have to do with diet – frequent feedings, lower fat meals, and sometimes patients need to eat throughout the night – exercise, which incre
