Dr Kendall re-diagnoses mito patient with rare gene disorder

admin  ∼  August 15, 2012  ∼  Mitochondrial disease Muscle biopsy Diagnose Re-diagnosed

Dr Fran Kendall's medical practice's VMP Latest News webpage


Been busy re-diagnosing two children who previously were incorrectly diagnosed with a primary mitochondrial disease. One with a severe seizure disorder was re-diagnosed with a mutation in a seizure disorder gene. The other with ASD, speech and language, seizures and autonomic dysfunction was re-diagnosed with a gene disorder with only about 200 reported cases. Happily, in both cases, these mutations are likely sporadic meaning the parents can go on to have healthy children if they so choice. Because these children had muscle biopsies and were incorrectly labeled with mito most people involved in their care stopped thinking about them. We are proud to say we never stop thinking about patients. PLEASE make certain BEFORE invasive testing that you seek a second opinion, exhaust all other testing options, and see a physician who is willing to consider and diagnose other disorders besides mito. Also, it may be wise to ask about and possibly avoid situations where there are self-referral and other conflicts of interest between the physician and the laboratory.