Blog

Updates on several topics that I felt would be useful or of interest to the EDS community

MItoAction podcast - Direct to Consumer (DTC) genetic testing strengths and limitations. Includes discussion of interesting studies and data surrounding the accuracy of the variants identified in DTC testing.

MItoAction podcast - Clinical red flags that suggest an alternative diagnosis should be considered and tools utilized to reanalyze patients classified with mitochondrial disease.

Not all cars, houses, plumbers, electricians - OR doctors- are the same. An M.D. seeing an occasional rare disease case vs. specializing in the diagnosis and management of mitochondrial or other rare disorders brings two very different skill sets to the examination table. There is tremendous value in knowledge and experience and that a second opinion consultation may bring you the answers you have been searching for.

Dr Fran Kendall writes the book on Mitochondrial Disease, at least in a medical textbook.

"children with ASD and mitochondrial disease typically do better once mitochondrial disease precautions and management are put into place leading to improved quality of life and functionality."

False positive mitochondrial diagnoses based on muscle biopsy results have become a prominent issue for discussion and consideration over the past 6 to 10 years

After spending exorbitant sums of money sometimes measured in the thousands, many families discover that testing obtained through alternative mechanisms is not considered