Mitochondrial patients often face misdiagnoses

Mitochondria, which are found in all cells except red blood cells, provide a majority of the body's energy. When mitochondria become diseased, therefore, they can affect almost any part of the body and cause a wide range of symptoms to arise. Patients in New York who suffer from a mitochondrial disease are probably aware that their conditions are difficult to diagnose.

A journal called Neurology Genetics has just released a study called "The Mitochondrial Disease Patient's Diagnostic Odyssey: Results of a Survey." The "odyssey" for most of the patients analyzed included visits to as many as eight different physicians as well as numerous tests. In all, researchers at Columbia University Irving Medical Center surveyed 210 mitochondrial patients with help from the United Mitochondrial Disease Foundation.

One of the most startling facts is that 55 percent were initially misdiagnosed. More than 30 percent claimed to have been misdiagnosed more than once. Over half saw their primary care physician while 35.2 percent saw a specialist. The mitochondrial diseases, which ranged from myopathy to progressive external ophthalmoplegia, were variously mistaken for psychiatric disorders, fibromyalgia, chronic fatigue syndrome and multiple sclerosis.

Researchers conclude that better clinical training may be required as well as improvements in genetic testing. Clinicians may also benefit from standardized diagnostic criteria as the surveyed patients reported a total of 800 symptoms.

A misdiagnosis can be considered medical malpractice if several conditions are met. For instance, the doctor and patient must have an established relationship Furthermore, the doctor must be shown to have violated an objective standard of care. This is where a malpractice attorney could come in, evaluate the claim and ask for an inquiry with the medical board. Once a reasonable settlement is calculated, the lawyer could proceed on the client's behalf to the negotiation table.