My name is Amber, and up until a few months ago, I was a typical 19 year old college student. After having pneumonia for the 3rd time in five months, my body was completely worn out and too weak to continue functioning normally. For those of you that know me, softball has been a huge part of my life since the moment I could walk, and I thought it was a dream come true to get the chance to continue playing the game I loved at the college level. My energy and excitement for the game quickly turned into struggles and hurdles, that were unexplainable at the time. I began experiencing extreme fatigue, shortness of breath, muscle weakness, and the inability to fight off common infections. After months of lab work, CT Scans, MRI’s, XRAYs, medications, more repeated tests, hundreds of more tubes of blood, and many hospital and doctors visits, I finally received some answers.

After breathing tests continued to show a digression in my ability to actively and sustainably breathe on my own, and every other test showed no signs of lung disease, my doctor knew that it had to be an issue with my muscles. With that lead, I had a muscle biopsy done on June 10th. On June 20th my family and I received the results.

The diagnosis: Mitochondrial Myopathy. Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body, except for blood cells. Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and growth. When they fail, less and less energy is generated within the cell. Cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fail, and the life of the person in whom this is happening is severely compromised.

Diseases of the mitochondria appear to cause the most damage to cells of the brain, heart, liver, skeletal muscles, kidney, endocrine and respiratory systems. Depending on which cells are affected, early symptoms may include loss of motor control, muscle weakness and pain, gastro disorders, swallowing difficulties, cardiac disease, liver disease, respiratory complications, lactic acidosis, and susceptibility to infections.

There is no cure, but there is HOPE. I will be traveling to different research hospitals around the nation, my first stop being the Mayo Clinic. Because the disease is so rare, there aren’t a lot of answers yet. Each patient is different, and all treatment & managing techniques are catered to each individual. I have started a few “mito cocktails” to try and slow down the progression of the disease, but I will start more treatments soon!

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