"When you hear hoofbeats, think horses, not zebras." This phrase is told to medical students throughout their training and one that we had said to us by various doctors as they tried to determine the cause of Savannah's multitude of symptoms. In medicine the term "zebra" is used to reference a rare disease or condition. Doctors are taught to assume that the simplest explanation is usually the best, so as not to go around diagnosing patients with all sorts of exotic illnesses that are highly unlikely. Common diseases are what doctors are taught they should expect to encounter. But many doctors seems to forget that "zebras" exist, and so getting a diagnosis and getting treatment can be more difficult for sufferers of rare or complex diseases. Mito is a mimic, able to masquerade as hundreds of other more common diseases. Often children will be misdiagnosed with one of these more likely suspects for years before a new symptom takes the initial diagnosis off the table and initiates a new hunt for answers. Other times children are handed the painful label of “undiagnosed” before a particularly astute doctor thinks to check for Mito. Many children with Mito end up stuck in a vicious cycle with their doctors busy treating all the symptoms and nobody trying to figure out the common denominator or root cause of everything. This is why Mito often flies below the radar for so long before it is diagnosed. It took us just shy of a year to diagnose Savannah and that only happened because she had a handful of sharp doctors willing to look for a unifying answer to multiple symptoms, involving multiple organ systems. Generally when someone exhibits symptoms across 3 or more organ systems or a when a "typical" disease exhibits atypical qualities...Think Mito! Think Zebras!! #KnowMito
