Tuesday, September 23, 2008

Someone you love has Mito

Every year 1000-4000 children are born with a Mitochondrial Disease. The person in my life who I know lives with Mito is Gwen, who I've written about on this blog many times before. Gwen and her family are no longer part of our congregation because our local hospitals didn't have the specialized treatment necessary to support Gwen, so they are now the beloved members of another UU congregation.

Many, if not most people with Mito are misdiagnosed, or not diagnosed until after death, so take a minute to learn about this often misunderstood disease. This is Mitochondrial Disease Awareness Week, to do yourself and your loved ones a favor, take a moment for awareness.

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.

This means that organs fail to work properly -- or fail outright. Without energy to run the cells, cells die, and can't do their jobs within the organs. So people with mito may not have GI tracts that work, or kidneys that will flush, or livers that wil cleanse. They become extremely vulnerable to the slightest bacteria or virus.

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.

Click the image to the left for a larger version of Symptoms of Mitochondrial Diseases.

"At this time, there are no cures for these disorders.
Goals of treatment
note: goals may never be met

* alleviate symptoms
* slow down the progression of the disease"

For more information about treatments and therapies, click the link in the above quote about Treatment.

As research continues, there seems to be more and more connection between mitochondrial diseases and autism spectrum disorders.
David Holtzman, MD, PhD, a Pediatric Neurologist at Massachusetts General Hospital in Boston, MA, notes, “Mitochondrial Disease may present with the clinical features of Autism Spectrum Disorders (ASD). Several recent studies have documented biochemical evidence of abnormal mitochondrial functions in at least 30% of children with ASD.”
FMI about thinking about connections between ASD and Mito, start here

Support these organizations:
Mito Action
United Mitochondrial Disease Foundation

People you love are living with this disease. They may or may not know it.
Support research.
Take a few minutes and play with the above websites and google and youtube.

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