What is Mitochondrial disease?

Mitochondrial Disease is a progressive genetic condition that affects the energy producing parts of almost all cells in the body.  Mitochondria are the "power plants" of the cell.  There are hundreds of mitochondria in each cell that produce 90% of our body’s energy supply.  This energy is needed to maintain all of the bodily functions we take for granted every day; breathing, heart rate, digestion, movement, etc.  When some or all of the mitochondria malfunction, there is a deficit in this much needed energy.  This is called Mitochondrial Disease.

As all tissues in the human body require energy, mitochondrial disease can affect almost the entire body.  The nerves and muscles require the most energy, so they are usually the systems most greatly affected.  After that, the cells damaged the most are from the heart, liver, kidney, endocrine, and respiratory systems.  There are over 40 different types of Mitochondrial Disease.  I have Complex I and III.
Types of Mitochondrial Disease

The severity of mitochondrial disease symptoms differs from person to person and symptoms can first appear in infants, children, teens and adults.

The most common symptoms are:

• Poor Growth
• Loss of muscle coordination, muscle weakness, pain
• Neurological problems, seizures
• Autism, autistic spectrum, autistic-like features
• Vision and/or hearing loss
• Developmental delays, learning disabilities
• Heart, liver or kidney disease or failure
• Gastrointestinal disorders, dysmotility
• Diabetes
• Increased risk of infection, difficulty recovering from a minor illness such as a cold, flu or virus
• Thyroid and/or adrenal dysfunction
• Autonomic dysfunction
• Neuropsychological changes characterized by confusion, disorientation and memory loss

Sometimes a person with Mito may “look normal” but face great challenges and potential health issues due to their defect in energy metabolism.

The treatment options for mitochondrial disease are simple:

• Vitamin therapy
• The goal is to improve symptoms and slow progression of the disease.
• Conserve energy
• Pace activities
• Maintain an ambient environmental temperature
• Avoid exposure to illness
• Ensure adequate nutrition and hydration.

There is NO cure for mitochondrial disease.

There are many challenges of living with mitochondrial disease.  It is considered an "invisible illness".  On a good day, people with mito look fine and healthy.  They have more energy and appear rested, even though they are probably dealing with multiple symptoms such as dizziness and pain.  On a bad day, they appear tired to significantly ill.  They are obviously fatigued and/or have significant illness.  Repeated bad days can often lead to decompensation and can have difficulty returning to baseline.  Mitochondrial disease is unpredictable.  Day to day, hour to hour, patients can develop symptoms and their stability can be threatened.  There is a great lack of awareness and understanding of the disease, even though it is as common as cystic fibrosis.  Because of the lack of understanding of the disease, many patients are misdiagnosed.  It is very difficult to diagnose.  Difficulties establishing a diagnosis interfere with a patient's ability to obtain adequate recognition, medical care, adequate insurance coverage, healthcare supports and disability services.  Because of the rarity of the disease (or the rarity of physicians who understand the disease), physicians who can take care of patients are difficult to find and then take forever to get an appointment with.

Important Mitochondrial Disease Links:

Foundation for Mitochondrial Medicine

United Mitochondrial Disease Foundation

North American Mitochondrial Disease Consortium

Cure Mito - Mitochondrial Dysautonomia & Functional Disorders Alliance

Mito Action