World Mitochondrial Disease Week

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, 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.

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. The disease can appear at any age. Many children and adults journey for years seeking a proper diagnosis of mitochondrial disease. 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.

Due to the complexity of the disease there are extremes in the way people are affected.  Some people have limited symptoms and are able to live relatively normal lives. At the opposite end of the spectrum, many are severely affected. The earlier the onset, the worse the prognosis is and some children do not survive their teenage years. As the disease progresses, the impact can become debilitating and can be terminal.

We know, around the world, 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 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. However, exciting research and clinical trials are taking place around the world.