September 27, 2012

Mitochondrial Disease

 When I was first told that it is a very good possibility that Sadie has a metabolic disease, more specifically a  mitochondrial disorder, I had no idea what to even think, mainly because I really didn't understand what it meant.  So I started my research.  There are so many resources out there, a whole world that I was not aware of (I'm finding many new worlds these days).  So for those of you who are not familiar with this specific "world" here is an idea of what it is like.

Taken from United Mitochondrial Disease Foundation
  "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."

There is no cure for mitochondrial disease. Some helpful treatments include vitamins such as thiamine (B1), riboflavin (B12), vitamin C, and vitamin E. Lipoic acid and coenzyme Q-10 are also useful supplements.Some researchers are examining using drugs to block lactic acid buildup in the body that is common in mitochondrial disease. Others are trying very low carbohydrate diets to reduce the workload for mitochondria.

   So in laymans terms as it was described to me.... "When the cells can't break down the food it creates a sludge.  When the sludge builds up and can't go anywhere, it kills that cell.  When the cells start dying in certain organs, then that organ will eventually die, also. Which obviously leads to death of the person."
  Why, thank you Dr for putting it so nicely to me.  Again, left that Dr's appt in tears.  It seems to be a common theme for Sadie's Dr's appt.

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