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Study highlights misdiagnoses among people with rare diseases

Texas residents afflicted with rare diseases often endure a lengthy diagnostic process that involves one or more incidents of misdiagnosis. A recent study conducted with support from the Rare Diseases Clinical Research Network looked at the diagnostic process for 210 patients with confirmed mitochondrial diseases. These diseases involve rare genetic disorders that impact mitochondria inside cells. These microscopic units generate 90 percent of the energy needed for organ function and life.

Questionnaire responses from the patients revealed a pattern of prolonged misdiagnoses that involved many tests. People visited an average of eight doctors before achieving an accurate diagnosis. Over half of respondents wrongly received diagnoses for conditions like psychiatric disorders, fibromyalgia, chronic fatigue syndrome and multiple sclerosis. Patients experienced multiple misdiagnoses in 32 percent of cases.

The process of disease identification usually required patients to go through multiple tests like brain MRIs, muscle biopsies and genetic tests. The study's senior clinical author said that people often endured painful and invasive procedures while being evaluated by several medical specialists.

In some cases, a misdiagnosis could represent a negligent failure to meet medical standards. A patient concerned about delays or mistakes that prevented timely treatment or inflicted physical and financial harm could speak with an attorney about filing a medical malpractice lawsuit. An attorney could arrange for an independent medical expert to evaluate the client's medical records. If this review produces evidence that a doctor or hospital fell short of accepted standards of care, legal counsel could file court paperwork. Before a trial, an attorney might seek a settlement from the medical provider and insurer. If the responsible parties resist their obligations to the patient, then an attorney could pursue damages for medical expenses and lost income in court.

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