Monday, September 19, 2011

The ABC's of a very complicated disease

United Mitochondrial Disease Foundation describes mito (shorten version generally used) as this:
“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.”
That makes it sound like a steady loss of power to the body's cells equals disease and a steady progression to death of the cell, organ, or the person. Mito is not that easily captured. Mito can seem to wax and wane. Many adults and teens are misdiagnosed with Multiple Sclerosis or lupus. Babies are often diagnosed with Cerebral Palsy. This is a VERY complicated disease that is woefully under-educated in the medical community.

Problems That May Be Associated with Mitochondrial Cytopathies
Organ Systems Possible Problems
Brain developmental delays, mental retardation, dementia, seizures, neuro-psychiatric disturbances, atypical cerebral palsy, migraines, strokes
Nerves weakness (which may be intermittent), neuropathic pain, absent reflexes, dysautonomia, gastrointestinal problems (ge reflux, dysmotility, diarrhea, irritable bowel syndrome, constipation, pseudo-obstruction), fainting, absent or excessive sweating resulting in temperature regulation problems
Muscles weakness, hypotonia, cramping, muscle pain
Kidneys renal tubular acidosis or wasting resulting in loss of protein, magnesium, phosphorous, calcium and other electrolytes.
Heart cardiac conduction defects (heart blocks), cardiomyopathy
Liver hypoglycemia (low blood sugar), liver failure
Eyes visual loss and blindness
Ears hearing loss and deafness
Pancreas and Other Glands diabetes and exocrine pancreatic failure (inability to make digestive enzymes), parathyroid failure (low calcium)
Systemic failure to gain weight, short stature, fatigue, respiratory problems including intermittent air hunger, vomitting
Taken from Mitochondrial News, Fall 1997 Issue by Bruce H. Cohen, M.D.

The tract of this mitochondrial disease can be everything from horribly affected before birth with low birth weight, still birth, birth defects, or severe problems at the moment of birth. These babies are often affected with a severe fatal form of mitochondrial disease and may not see their 2 birthday. On the other side of the spectrum it can be a muscle based extreme weakness and exercise intolerance. Most affected people fall between these two.

Babies and young children develop problems as they grow autism, cerebral palsy, breathing issues, immunity problems, etc. Unless an obvious indicator for mitochondrial disease is found these children are in limbo searching for months or even years for why they are so sick.

Adults are the often forgotten group of affected. Not too many years ago this population was mostly ignored unless they presented with "classic" eye muscle paralysis, loss of hearing, or eyesight. Adults are often left in limbo as testing of this complicated disease can lead less educated doctors to become frustrated. A frustrated doctor or an ER that sees a patient too many times can note on the person's file that they have mental health issues.

How horrifying that is to teens or adults that may need the mental health assistance in dealing with a chronic life altering disease. Many adults will shy away from seeking this help because of the fear they will not be properly treated for their medical problem. It is a balance that is so delicate and can be easily upset leaving a patient in dire need of ALL the support the medical community can give them, on their own.

Mitochondrial disease is not an easy disease to understand, test for, or diagnosis. There is no cure or treatment and many doctors I have dealt with do not want to diagnosis mito because of there is no cure or treatment. They feel by diagnosing me with mito they have somehow failed me.

The diagnosis of mitochondrial disease is a horrible nightmare for a parent. A breath taking blow to an adult that had dreams of marriage, children, and having the American dream. There is NO easy way to deal with this diagnosis and disease. You will grieve. You will get angry. You might even face resistance in unexpected places like your family as they desperately don't want this to be true.

I can tell you having walked this road that you will get through. If you can find a support group near you of other parents and affected individuals then please attend. If like me there is not anyone else near by, try an online group like Mito Families! There is a Mito Families! news, and Mito Families!  .(this is a closed group so you will need to ask to join). I also put out a newsletter (when I get back up on me feet from my stroke.)

Here are several organizations that help patients with support, raising awareness, and encouraging research.
United Mitochondrial Disease Foundation

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