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Getting a mitochondrial disease diagnosis

Mitochondria are intercellular pockets that create over 90 percent body's energy. A projected 75,000 people living in Arizona and the rest of the United States have genetic conditions that stem from mitochondria failures. The results of new study show that people who receive their diagnosis of mitochondrial disease, which is a genetic disorder, endure a difficult and protracted time of misdiagnoses.

For the study, a survey was conducted of 210 patients who were diagnosed with mitochondrial disease and who were enlisted from the National Institutes of Health-funded Rare Diseases Clinical Research Network. Patients reported going to an average of eight different physicians before receiving their diagnosis. Fifty-five percent of the respondents stated that they had received a misdiagnosis before obtaining an accurate assessment. Out of these patients, 32 percent stated that they were misdiagnosed multiple times.

At 13 percent, the misdiagnosis of a psychiatric disorder was the most prevalent. It was followed by fibromyalgia at 12 percent. Other misdiagnoses included chronic fatigue syndrome at 9 percent and multiple sclerosis at 8 percent. On their journey to receiving the right diagnosis, a majority of the patients had several diagnostic tests. These tests included muscle biopsies, blood tests, genetic tests and brain MRIs.

According to one of the authors of the study, the results show that getting an accurate diagnosis of mitochondrial disease is cumbersome. It is a lengthy process that involves contradictory diagnoses, consultations with many clinical specialists and repeated testing that can be invasive and painful.

Individuals who have received a misdiagnosis may be victims of medical malpractice with legal recourse available. An attorney who practices medical malpractice law may be able to pursue financial compensation on behalf of patients who were the victim of doctor errors that resulted in a worsened condition, unnecessary treatment, a delay of proper treatment or a permanent disability.

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Law Offices of Raymond J. Slomski, P.C.

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