What is the impact of illness or infection on a patient with mitochondrialRelated to the mitochondria. disease?
Patients, parents, and healthcare providers with firsthand experience of mitochondrial disease have probably experienced the consequences of an illness or infection. Illnesses and infections have a more dramatic and prolonged impact on children and adults who suffer from mitochondrial disorders, often causing long periods of fatigueThe overall feeling of tiredness or lack of energy. It is not the same as simply feeling drowsy or sleepy. Being fatigued means having no motivation or energy., regression in developmental milestones, skills or baseline function, and exacerbation or complaints of additional (unrelated) symptoms during and after the period of illness. In addition, some physicians and families notice an increased susceptibility to illness for patients with mitochondrial disease. However, there is limited published data on systematic analysis of immune system in patients with mitochondrial disease. Research focusing on the relationship between immune function and the mitochondria has been mostly limited to cell-based studies.
Join us to listen, learn and discuss the recent research and publication from an interdisciplinary collaboration between clinical investigators, Dr. Melissa Walker (NeurologyMedical specialty focusing on disorders of the nervous system.), Katherine Sims (Metabolic Diseases) and Jolan Walter (Pediatric Immunology) at Massachusetts General Hospital, Boston, MA. These clinicians sought to determine how often infection and illness (including a systemic inflammatory response) occurred in patients with well-defined mitochondrial disease and immunodeficiency. A subset of their mitochondrial patients with evidence of immune abnormalities responded well to immunoglobulin replacement therapy with less infections, preserved developmental milestones and improved quality of life.