I became totally disabled in 1992 at the age of 33 when I was diagnosed with Nonclassical Congenital Adrenal Hyperplasia. In 2000 I was diagnosed with mitochondrial myopathy/MELAS. Both conditions cause profound, debilitating fatigue and muscle weakness. The mitochondrial disease causes energy depletion on a cellular level leading to organ and body system failures. My breathing muscles and heart are affected by it. My adrenal disease causes profound fatigue, adrenal insufficiency, and occasional, adrenal crises, which is life threatening. Keeping the right steroid balance is very difficult.
The cherry on top of it all was sudden onset of shortness of breath in 2012 that would, finally, be diagnosed as a non tuberculin mycobacterium infection. Scar tissue from that developed into adenocarcimoma in the right upper lobe of my lung (never smoked). I had a right upper lobectomy in June, 2015. Thankfully, it got all the cancer. I needed no chemotherapy or radiation and to date am cancer free. What I was spared in pain by a "minimally invasive" procedure and not having to have my ribs spread has been made up for in chronic infection, inflammation, and bronchospasms causing nonstop coughing for over a year and associated pain and continued severe shortness of breath, cold sweats, and general unwellness. My fatigue and weakness has been multiplied by as much again as what I was already dealing with.
The 300 million people living with rare diseases seldom receive appropriate medical treatment. Unlike common chronic diseases for which there are established and constantly evolving treatments and interventions, those with…
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Rare Disease Day 2022: What I Want People to Know About Rare Diseases
This year Mitochondrial Disease Awareness week is September 15-21 but I and other members of my family will continue to fight this battle for the rest of our lives. For…
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Multigenerational Mitochondrial Disease/Mitochondrial Disease Awareness