Sunday, September 18, 2011

Mitochondrial Disease.

What is Mitochondrial Disease?
Mitochondria exist in nearly every cell of the human body, producing 90 percent of the energy the body needs to function.  In a person with mitochondrial disease, the mitochondria are failing and cannot convert food and oxygen into life-sustaining energy.  For some, mitochondrial disease is an inherited genetic condition, while for others the body's mitochondria can be affected by other environmental factors. 

How does Mitochondrial Disease affect the body?
The parts of the body that need the most energy, such as the heart, brain, muscles and lungs are the most affected by mitochondrial disease.  The affected individual 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/or liver disease. 

What is the prognosis for these individuals?
As more research dollars are raised to find more effective treatments and ultimately a cure, some of the affected children and adults are living fairly normal lives with mitochondrial disease.  At the opposite end of the spectrum, many are severely affected and some children do not survive their teenage years. 

When is someone with Mitochondrial Disease at the highest risk?
The child or adult is at highest risk for neurological and organ damage during and for the two weeks following an illness. Therefore even a simple flu or cold virus can have devastating effects on the patient, even death.  Any illness must be treated immediately with medical interventions, like IV fluids and IV antibiotics. 

How many individuals are affected?
Every 30 minutes a child is born who will develop a mitochondrial disease by age 10.  Each year, 1000 to 4000 children in the United states are born with a mitochondrial disease. While exact numbers of children and adults suffering from mitochondrial disease are hard to determine because so many people who suffer from mitochondrial disease are frequently misdiagnosed, we now know the disease is approaching the frequency of childhood cancers. Many are misdiagnosed with atypical cerebral palsy, various seizure disorders, childhood diseases and diseases of aging.  Still others aren't diagnosed until after death.

This week is Mitochondrial Disease awareness week. Please visit the UMDF website to learn more about Mitochondrial diseases and the steps that are being taken to educate, research and hopefully one day find a cure.
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