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Mitochondrial disease patients go on “diagnostic odyssey”

The journal Neurology Genetics published a study called “The Mitochondrial Disease Patient’s Diagnostic Odyssey: Results of a Survey” showing how those with mitochondrial disease are forced to visit numerous specialists and undergo multiple tests before they receive a correct diagnosis. Patients in Florida may want to know why this is.

The frequency of misdiagnoses is reportedly due to flaws in genetic testing methods and a lack of standardized diagnostic criteria. Poor clinical training may also be to blame. The wide array of symptoms, with some estimates being close to 800, also raises the risk for a misdiagnosis. Mitochondria are found in all the cells of the body, except red blood cells, so virtually any part of the body can be affected.

The study surveyed 210 patients with self-reported mitochondrial disease and found that, on average, they saw 8.2 different physicians before receiving a diagnosis. For 55 percent, that initial diagnosis was an incorrect one. Over half of all patients initially saw a primary care physician with 35.2 percent initially seeing a specialist.

Of the 800 symptoms, the most common were weakness, fatigue, difficulty walking, droopy eyelids and lack of coordination. The mitochondrial diseases were most often mistaken for psychiatric disorders, fibromyalgia, chronic fatigue syndrome and multiple sclerosis.

To avoid misdiagnoses, patients should be able to give their doctors a detailed medical history. If patients do all they can and still suffer from a misdiagnosis, they may be eligible for compensation. They may wish to consult with a medical malpractice attorney about filing a claim.

The attorney might request an inquiry with the local medical board to see where the doctor failed to live up to the standard of care. The attorney may also work to show that there was an existing doctor-patient relationship. Whether the victim wishes to negotiate out of court or litigate, the lawyer may speak on his or her behalf.

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