Art Estopinan is a government consultant and political advisor who has spent his life advocating for different causes. When his son Arturo, now 11, was diagnosed with TK2-related mitochondrial DNA depletion syndrome (MDS), the Estopinan family became his biggest advocates. Here, Art shares their journey from facing a difficult prognosis to finding a therapy that saved his son’s life.
For the first time, researchers have described the spectrum of mitochondrial diseases (MtDs) in North America. A new study in Neurology Genetics uses data from the North American Mitochondrial Disease Consortium (NAMDC) Registry to evaluate the clinical, biochemical, and genetic features of patients with MtDs.