I wanted to start this group for anyone out there who may have been diagnosed with a mitochondrial disorder also. Or maybe just letting people know what this disease is about. It is still just getting known in the medical community so you may have to bring it up to your doctor if you think this sounds like something you have been going through.
Mitochondria are small energy-producing structures found in every cell in the body. They serve as the cells' power plants (responsible for the body's energy production, converting food into energy). It's kind of like having a brown out in your body.
Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in almost every cell of the body. They are responsible for creating more than 90 percent of the energy needed by the body to sustain life and support growth. The mitochondria are composed of tiny packages of enzymes that speed chemical reaction. These enzymes play an essential role in turning nutrients into energy: they are linked in the electron transport chain (ETC), also known as the respiratory chain, which creates ATP (cellular energy) through a process called oxidative phosphorylation. The respiratory chain is the final step in the energy making process in the mitochondrion where most of the ATP is generated. The mitochondrial enzymes (also known as complexes I, II, III and IV) are needed to generate the electron and proton gradient that is utilized by complex V to generate ATP. Defects in any of the enzymes could cause a mitochondrial disease. When mitochondria fail, less and less energy is generated within the cell. When this happens, cell injury and even cell death follow. If this process is repeated on a large scale throughout the body, whole systems begin to fail, and the life of the person in whom this is happening is compromised, changed or even ended.
Currently there are no known cures. The treatments that are available are limited. Most treatments and medications address only symptoms of the mitochondrial disorder, not the disorder itself.
Mitochondrial diseases are extremely complex; due to this complexity the severity of these diseases is unpredictable, and the range of symptoms is diverse. Symptoms may present unexpectedly at any age or they may be evident from birth or infancy. The presentation of symptoms depends upon which organs or systems are most affected by the malfunctioning mitochondria.
Diseases of the mitochondria cause the most damage to cells of organs and systems that require a great deal of energy: the brain, the heart, the skeletal muscles, the kidney, liver and the endocrine and respiratory systems.
The symptoms that I deal with most frequently are Fatigue, Exercise intolerance, Loss of motor control and balance, Muscle weakness, cramps, stiffness and/or spasms, Gastro intestinal disorders, Respiratory complications, Unstable body temperature, Migraine headaches, Visual/Hearing problems, chronically lowered immune system and susceptibility to infection. Add in high mental stress or extremely cold or hot weather and I suffer with seizures or stroke like episodes.
I only have so much energy available on a daily basis. Some days I feel okay for part of the day. Some days I get tired just getting ready for the day.
I still have to watch how much I do when I do have energy because it does not last long and overdoing will cause me to “Crash” for days or weeks. When I am in a “Crash”, I can barely walk from room to room. The only thing to do to start getting over this is to rest. My doctor said when my eyes no longer focus, that’s the sign it is time to quit what I am doing and go rest. It's hard to plan ahead since I do not know how I am going to feel from day to day.
I was diagnosed in 1999. It has been a long journey so far, and who knows what life lays ahead. But I deal with it day to day.
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