Global mitochondrial disease awareness week: september 16-22

Every 30 minutes, a child is born who will develop a mitochondrial disease by age 10. But, We All Have Mitochondria.

Mitochondria exist in nearly every cell of the human body. It's responsible for creating 90% of the energy you need to sustain life and support organ function. However, malfunction does happen.

When mitochondria cannot convert food and oxygen into life-sustaining energy, cell injury and even cell death follow. When this process is repeated throughout the body, organ systems begin to fail and even stop functioning.

But, Why Do Mitochondria Malfunction?

There is still so much to uncover, but what is known is that Mitochondrial disease is an inherited condition. Your mitochondria can also be affected by other genetic disorders and environmental factors. There are many types of mitochondrial disease. Each disorder produces a spectrum of abnormalities that can be confusing to both patients and physicians. 3+ malfunctioning organ systems is a red flag for mitochondrial disease.

According to the Mitochondrial Care Network, a correct diagnosis is difficult because many common conditions have been linked to unhealthy mitochondria. Generally, a neurologist or geneticist will raise a concern and suggest testing for mitochondrial disease.

A cardiologist or endocrinologist may also suspect the disease. A list of medical centers that have experience in mitochondrial disease diagnosis and testing can be found through the Mitochondrial Care Network.

Testing for mitochondrial disease typically includes:

Blood and urine to check levels of amino acids, acylcarnitines, lactate, pyruvate and urine organic acids, DNA testing, and muscle biopsy typically taken from the thigh.

The exact number of individuals suffering from Mitochondrial Disease is hard to determine because so many who suffer from the disease are frequently misdiagnosed. One in 5,000 individuals has a genetic mitochondrial disease.

One of the most common questions is, What is the prognosis for individuals affected by mitochondrial diseases?

That is a tough question to answer because the prognosis depends upon a variety of criteria. Some affected children and adults are living fairly normal lives. In other cases, affected children may not survive beyond their teenage years. Adult onset can result in drastic lifestyle and physical changes in a short amount of time.