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Wednesday, October 26, 2011

Mitochondrial Disease

What is Mitochondrial Disease

Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells. Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When they fail, less and less energy is generated within the cell. Cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fail, and the life of the person in whom this is happening is severely compromised. The disease primarily affects children, but adult onset is becoming more and more common.

Diseases of the mitochondria appear to cause the most damage to cells of the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems.

Depending on which cells are affected, symptoms may include loss of motor control, muscle weakness and pain, gastro-intestinal disorders and swallowing difficulties, poor growth, cardiac disease, liver disease, diabetes, respiratory complications, seizures, visual/hearing problems, lactic acidosis, developmental delays and susceptibility to infection


Just spoke to Bailey's new Genetic/Metabolic doctor. She had some blood work done a few weeks ago when she was sick and it still showed that her organic acid was high. This is common in people with Mitochondrial diseases. They talked about it before but were un-sure and now this is pointing them in the direction that she does have a Mitochondrial disease. She needs to have the whole body muscle MRI & a Brain MRS done to confirm and to look at her lactic acid. She then needs a muscle biopsy as well. We have all of this already in the works of course, but her insurance has denied the scans because they are taking bone marrow blood supply. This is commonly taken from people who have cancer so they are having a hard time finding it medically necessary, which indeed it is. They have started the appeal process, so it will be put off a little longer but I know they will eventually agree to covering it with the right wording and explanation.

Are we really getting closer to an answer??? Although this is not good news it is nice to possibly see a future answer to all of the things that have been happening to her, her whole life and to getting her on the right treatment path. Pray that her insurance agrees to these scans soon!

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