Mitochondrial Disease Awareness Week

This week is Mitochondrial Disease Awareness Week.  In the year and a half since our daughter died, I haven't been very outspoken about the disease or what is happening in the field as far as research goes.  Truthfully, its because I'm not all that interested.  I know that seems crazy, but the facts are the research in the field of genetics is making little to no progress despite what you may have heard or believe.  This doesn't mean that I don't believe in the research, especially if it is privately funded.  I'm just not interested in pushing the cause myself, even though Scott and I have a 25% chance of having a sick child each time we concieve.  All that being said, there are so many people affected by this disease and more being diagnosed every day.  The type of mito disease that Lilly had is very rare, but there are many other types that are more prevelant and affect many people--mostly children.  Like all horrible diseases there is no cure and no effective treatment options for most mitochondrial disorders.  Please take the time to pray this week for our family (especially Emory) and the rest of those around world who are dealing with this disease.

Mitochondrial Disease Fact Sheet (from www.umdf.org)

WHAT ARE MITOCHONDRIA?
Mitochondria are often called the ‘cell’s powerhouse.’ They are specialized compartments within almost every cell. They are responsible for producing 90% of the energy needed by our body to sustain life. Mitochondria combine oxygen from the air we breathe with calories from food to produce energy.

WHAT IS MITOCHONDRIAL DISEASE?
Mitochondrial diseases result when there is a defect that reduces the ability of the mitochondria to produce energy. As the mitochondria fails to produce enough energy, the cell will not function properly and if this continues, cell death will eventually follow. Organ systems will begin to fail and the life of the individual is compromised, changed or ended. 

Imagine a major city with half its power plants shut down. At least, such conditions would produce a “brown out” with large sections of the city working far below optimum efficiency. Now imagine your body working with one-half of its energy-producing facilities shut down. The brain may be impaired, vision may be dim, muscles may twitch or may be too weak to allow your body to walk or write, your heart may be weakened, and you may not be able to eat and digest your food. This is precisely the situation people with mitochondrial disease find themselves.

Mitochondrial disease can affect any organ of the body and at any age. Symptoms are extremely diverse and often progressive. They include: strokes and seizures, muscle weakness, gastrointestinal disorders, swallowing difficulties, cardiac disease, liver disease, diabetes, blindness and deafness and susceptibility to infections.

WHAT CAUSES MITOCHONDRIAL DISEASE?
For most patients, there is a genetic mutation in either the mitochondrial DNA or the nuclear DNA. The mutation may have been inherited from the mother or from both parents, or it may represent a spontaneous mutation. For most patients with mitochondrial disease, the genetic mutation has not yet been identified. There are environmental factors, even certain medicines that may interfere with the mitochondria and result in symptoms.

HOW COMMON ARE MITOCHONDRIAL DISEASES?
Every 30 minutes a child is born who will develop a mitochondrial disease by age 10. At least 1 in 200 individuals in the general public have a mitochondrial DNA mutation that may lead to disease.  Mitochondrial disease is a relatively newly diagnosed disease – first recognized in an adult in the 1960s and in the 1980s for pediatric onset cases. It is greatly under diagnosed and the true prevalence is difficult to determine. Research has consistently shown that mitochondrial dysfunction is at the core of many very common illnesses and chronic conditions of adulthood. These include: Alzheimer’s Dementia, Parkinson’s disease, diabetes, hypertension, heart disease, osteoporosis, cancer and even the aging process itself. Furthermore, autoimmune disease such as multiple sclerosis, lupus and rheumatoid arthritis appear to have a mitochondria basis to illness.