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 many, mitochondrial disease is an inherited genetic condition, while for others the body’s mitochondria can be affected by other environmental factors.
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 liver disease.
That is a tough question to answer because the prognosis depends upon the severity of the disease and other criteria. 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. In other cases, children may not be able to see, hear, talk or walk. Affected children may not survive beyond their teenage years. Adult onset can result in drastic changes from an active lifestyle to a debilitating ilness is a short amount of time.
The child or adult may have seizures, severe vomiting, failure to thrive, heat/cold intolerance, poor muscle tone, delayed achievement of milestones, severe diarrhea/constipation, feeding problems, unable to fight typical childhood infections or repeated infections and fevers without a known origin. A “red flag” for mitochondrial disease is when a child or adult has more than three organ systems with problems or when a “typical” disease exhibits atypical qualities.
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.
Every 30 minutes, a child is born who will develop a mitochondrial disease by age 10. Each year, 1,000 to 4,000 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.
Yes, many adults are diagnosed with adult-onset mitochondrial disease. Some of these individuals have been ill their whole lives but went undiagnosed. Others have carried the genetic mutation that causes mitochondrial disease since birth but did not show any symptoms until a severe illness brought them on. Adult mitochondrial patients are affected in a similar manner to the children who are affected.
The UMDF was created in 1996 by parents of affected children. The UMDF exists to promote research and education for the diagnosis, treatment and cure of mitochondrial disorders and to provide support to affected individuals and families. The national headquarters of the UMDF is in Pittsburgh, and there are Mito Groups across the United States.
Since its begining, the UMDF has funded more than $10 million dollars in research towards a cure. The UMDF is one of the leading contributors of grants to mitochondrial disease researchers and is considered the premier foundation for mitochondrial disease by the world medical community. The UMDF’s scientific and medical advisory board is composed of mitochondrial disease experts from around the world, and these experts approve which research grants receive funding.
To speak to someone at the National Office you can call 1-888-317-UMDF (8633) or email firstname.lastname@example.org . To find your local Chapter, Mito Group or Ambassador, click here to go to our map of events and activities.