Friday, April 11, 2008

Emeric is sleeping, Kylie is watching cartoons and Kaydence went with Jake somewhere. It's very peaceful here! I'm listening to music on Youtube. :)

I've gotten in one of those moods again where I find every possible piece of information I can find regarding these specific diseases that Emeric is being tested for. None of this is probably of much interest to anyone but me but I enjoy using this blog as my journal and I can go back and look through it so I decided I was going to post some sites on Mitochondrial Disease if anyone wants to read through them. I go back in forth with this disease in regards to Emeric. Some days I feel like there is no possible way he has it because he is just not sick enough and not severely affected enough and then other days I talk to people who say you don't have to be severely affected or that their kids weren't even as affected as Emeric at that age and that their kids didn't become affected until later.

Anyway, there is this scale where you get points for specific symptoms and you can get up to 15 points with 4 of those coming from the muscle biopsy.

A score of 1 means Mitochondrial Disease is unlikely.

A score of 2-4 means a possible mitochondrial disease.

A score of 5-7 means a probable mitochondrial disease.

A score of 8-12 is a definite mitochondrial disease.

Emeric's score without the biopsy results yet is 6. That put him towards the high end of a probable mitochondrial disorder. That means if anything is abnormal in the muscle biopsy(most of the abnormalities are 2 points at least) he will be in the definite mitochondrial disorder category.

Anyway, it's all interesting to me. Of course if he actually has Mitochondrial Disease I probably won't use the word interesting. Right now it's just sort of something to look at but if it becomes reality I'm sure I'll feel differently than I do now. I've learned more about biochemistry in the last few months than I ever learned in school!

Here's a really brief description of Mitochondrial Disease. I still have people asking me all the time what it is so you can read this and know for yourself and tell anyone that asks. :)

About 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.

The Mitochondrion


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