IamA 23 year old with a rare degenerative disease, mitochondrial myopathy that effects every major system in my body. There is no known cure. AMA.
I was officially diagnosed with mitochondrial myopathy when I was 18 through a muscle biopsy. However I have been experiencing symptoms of my illness since birth. Mitochondrial disease is a chronic, progressive disorder that occurs when the mitochondria of the cell cannot produce enough energy for cell or organ function. Mitochondrial disease can be inherited from a person’s mother (mtDNA), from both parents (nDNA), can occur spontaneously, or may result from exposure to toxins, medications, or other environmental triggers. There are about 40 mutations in the mtDNA and 300 mutations in the nDNA that have been identified and linked to mitochondrial disease. However, it is likely there are many more that have yet to be discovered. My specific mutation has not yet been categorized as my official diagnosis is an undiagnosable mitochondrial myopathy. The doctors believe that I my mutation was spontaneous as I am the only one in my family affected with the illness.
The major symptoms I experience are fatigue. I often struggle to get through the day energy wise and I am always tired. I have to sleep about 10 hours a night to function the next day, and 12 to feel at my best. I also suffer from gastroparesis and dysmotility (my stomach has difficultly moving food along the digestive tract), this causes severe nausea, vomiting, and stomach pains. I use a J tube for feedings overnight when I am unable to keep anything down. I also experience chronic musculoskeletal pain in my legs, arms, shoulders, back and neck that range many where from a 3 to 6 on a pain scale at any given moment. In addition, I also have a chronic migraine headache that has not gone away since roughly 2008. Most of time the headache sits at about a 2 or 3 on the pain scale and I am able to ignore it, but often times it spikes. I have had problems with my heart as a child, and various other issues throughout the years.
There is no known cure for Mitochondrial Disease and it is a degenerative illness that overall, will only get worse with time. And there also is very little research being done as the illness is relatively rare. I am mostly here to raise awareness as Sept 14th- 20th is international Mitochondrial Disease Awareness Week! So AMA!
If anyone is interesting in donating to mito research I will just leave this here: https://secure.umdf.org/site/apps/ka/sd/donor.asp?c=8qKOJ0MvF7LUG&b=7966007&en=joLIIKNoH3IALNOpG4IBJOOnFeKVK0PyEkLLLPPrE7KDJPOzFsG
EDIT: Hey everyone, thanks so much for all the support and questions! I'm getting a little tired now, so I'm going to go take a nap. But I will be back in a little while to answer more questions! Thank you all so much for asking such great questions and helping me raise awareness.
EDIT 2: Wow thanks guys, my brother told me we made it to the front page earlier! Thanks so much for helping me raise awareness for my disease. It means soooo much to me. And thank you for whoever gave me the gold, it's so kind of you! I'm going to keep doing my best to answer your questions. You guys are asking some really great ones!!
EDIT 3: Ok, I'm off to bed now everyone, I'm pretty knackered now. But I will continue to answer all of your wonderful questions in the morning! So keep them coming reddit, you're doing wonderfully. Good night.