About Me

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I am a wife and mother who also has cystic fibrosis and a mitochondrial disease.

Thursday, September 19, 2013

More mito awareness

It's mito awareness week as most of my friends and family know, but a few still seem wrapped up in their own lives. I'm not really surprised, it happens during CF awareness too. I do not for one second think I am the center of the universe, but it would be nice if some of my loved ones at least acted like they were interested in a cure. For either illness. It isn't as if we only get to pick one charity/disease to champion so I am not sure why it is like pulling teeth to get them to come out to an event or to share a post to raise awareness.

Back to raising awareness...

Mitochondria are in almost every cell in the body, and produce 90% of energy needed by the body to function. When there is a dysfunction in the mitochondria the body is not able to convert food and oxygen to energy. The heart, brain, muscles and lungs, are the most affected by mitochondrial disease because the require the most energy. Someone affected may have strokes, seizures, gastro-intestinal problems, (reflux, severe vomiting, constipation, diarrhea), swallowing difficulties, failure to thrive, blindness, deafness, heart and kidney problems, muscle failure, heat/cold intolerance, diabetes, lactic acidosis, immune system problems and liver disease.

Some of my symptoms overlap with my cystic fibrosis, so I guess in a sense I got a double whammy. Please go to UMDF.org for more information on mitochondrial disease and how you can help. Another good site to check out is mitoaction.org

Monday, September 16, 2013

Mitochondrial Disease Awareness week

Yesterday was the start of mitochondrial disease awareness week! So I'm going to post every day with some information on what exactly this disease is and what it does to me personally. I am not doing this for sympathy or anything but rather so that people can read and see how mito effects me personally. So to start off, what is mitochondrial disease? According to the United Mitochondrial Disease Foundation (UMDF.org) it is:

"A 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. 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. 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."

So technically:
"Mitochondrial diseases are the result of either inherited or spontaneous mutations in mtDNA or nDNA which lead to altered functions of the proteins or RNA molecules that normally reside in mitochondria. Problems with mitochondrial function, however, may only affect certain tissues as a result of factors occurring during development and growth that we do not yet understand. Even when tissue-specific isoforms of mitochondrial proteins are considered, it is difficult to explain the variable patterns of affected organ systems in the mitochondrial disease syndromes seen clinically."

Mito Action adds:
•Mitochondrial disease is a chronic, genetic disorder that occurs when the mitochondria of the cell fails to produce enough energy for cell or organ function.
•The incidence about 1:3000-4000 individuals in the US. This is similar to the incidence of cystic fibrosis of caucasian births in the U.S.
•There are many forms of mitochondrial disease.
•Mitochondrial disease is inherited in a number of different ways
•Mitochondrial disease presents very differently from individual to individual.
•There may be one individual in a family or many individuals affected over a number of generations.

There are many of them, which means there are many different symptoms. But the most common are:
•Poor Growth
•Loss of muscle coordination, muscle weakness
•Neurological problems, seizures
•Autism, autistic spectrum, autistic-like features
•Visual and/or hearing problems
•Developmental delays, learning disabilities
•Heart, liver or kidney disease
•Gastrointestinal disorders, severe constipation
•Increased risk of infection
•Thyroid and/or adrenal dysfunction
•Autonomic dysfunction
•Neuropsychological changes characterized by confusion, disorientation and memory loss.

My current symptoms:
•Loss of muscle coordination, muscle weakness, muscle cramps, muscle spasms
*Nerve Pain
*Joint Pain (Fingers, toes, knees hips)
*Poor absorption (result, several vitamin deficiencies) added complications due to CF
*Poor Digestion (added complications due to CF)
*Thyroid dysfunction
•Neuropsychological changes characterized by confusion, disorientation and memory loss.
*Liver (unsure if this is CF related or mito related or a combo)
•Fatigue - everyday
*bone pain

On a scale of 1 - 10 today my fatigue is an 8, muscle pain is 3, joint is 6, and nerve is 5. This numbers are my usual range. When I have a good day I still have my symptoms, they might all be below a 5 or I am hiding it. Which I do all too well, according to my husband.