About Mitochondrial Disease
Having mitochondrial disease is like having a massive power outage within your body.
All cells in the human body have mitochondria. They are the ‘power plants’ that provide the body with all of the energy it needs to walk, talk, laugh, hear, digest food, and breathe.
When a person has mitochondrial disease, it means that the power plants in their cells are not working properly. It also means that they could suffer a ‘power failure’ in the organ systems that sustain life. In some cases, mitochondrial disease is fatal.
The first case of mitochondrial disease was diagnosed in an adult in the 1960s and in the pediatric population in the 1980s.
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, gastrointestinal problems, (reflux, sever 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.
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 3 organ systems with problems or when a 'typical' disease exhibits atypical qualities.
The disease can appear at any age. Many children and adults journey for years seeking a proper diagnosis of mitochondrial disease.
Because there are not enough physicians and experts in the field, some people could be misdiagnosed with something else.
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. Adults may see a once productive lifestyle turn to debilitation.
We know, around the world, that every 30 minutes, a child is born who will develop a mitochondrial disease by age 10. 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 disease patients are affected in a similar manner to the children who are affected.
At present, there are not highly effective treatments. Related symptoms may be managed with various medications.
Most physicians prescribe a 'cocktail' of supplements for patients.
Currently, no - but we are working on it. There are a number of clinical trials underway.
Hopefully a cure is not far off in the future.