HOME ยป I Have Mitochondrial Myopathy

I finally got the results of the muscle biopsy I had back on Dec. 8th! And the Neuromuscular Specialist from UAB told us that I had a significant number of ragged red fibers in my muscle tissue, with a diagnosis of Mitochondrial Myopathy. He had suspected that, based on the level of muscle weakness I have plus my complete medical history and family history.

Mitochondrial Myopathy is classified as a Rare Disease by the National Institute of Health, affecting about 1 in 5,000 people. The Mitochondria are found in all human cells except for mature red blood cells, and they are the engines that provide energy to the cells to function properly. When they are defective in some way the cells cannot properly use the food fuel to provide that energy needed for normal cell activity. Exactly how this disease affects a person depends on which type of cells are most significantly affected by mutated Mitochondrial DNA. I was born with this disease, and the doctor says the mutations have been building up in my body my whole life until now I have a significant number of muscular tissue cells with defective Mitochondria. My symptoms have finally progressed to a point that it was possible to make an accurate diagnosis, confirmed by the muscle biopsy.

Adult onset MITO is not a life threatening disease, and for that we are extremely thankful. It certainly does affect my quality of life, however. The specialist does not think I will ever end up in a wheelchair, which is wonderful news. There is no cure and no real treatment, however. That’s the bad news.

There are some vitamins and cofactors I can try taking, but I’ll basically have to experiment on myself to see which ones, if any, will possibly give me more energy. He suggested I try Coenzyme-Q10, so I started taking it last night. Antioxidants may also be helpful. I had stopped taking all but the most essential meds and supplements early in 2011 when my liver enzymes were first elevated and the weakness became pronounced. Now that we know what I have I plan to start taking Turmeric, Vitamin E, Omega 3, and Lutein, again, as well as the CoQ10. I already eat a diet rich in green leafy vegetables, nuts, and fruits, as well as consciously eating high quality proteins and limited complex carbohydrates – all recommended for Diabetics and people with neurological disorders.

When I see my own Neurologist next time I’ll probably ask for a prescription for Physical Therapy again, so they can help me build up a safe exercise routine based on this diagnosis. In the mean time I’ll try to increase my activity level VERY gradually.

I’ve joined the United Mitochondrial Disease Foundation, MitoAction, and the Muscular Dystrophy Association, and I’m studying all the information on this disease they provide.

So I feel like I’m developing a plan of action and have hope that I will be able to slow the progression of this disease with supplements and good nutrition. I’m thankful to God for our close proximity to such a world renowned research hospital as UAB and for the specialists there. Waiting so long to get these test results has been extremely hard on both of us, but now we have an enemy with a name and can deal with it emotionally and physically.


I Have Mitochondrial Myopathy — 2 Comments

  1. I am so sorry for you!!! But in away I am very happy you found out the cause of all this! You got your results back quickly! Good for you!! I am hoping all the best to you from one mito to the other mito. Are you on mitooldies? or FB? Will you be going to DC this summer? I am a leader/ambassador for UMDF now.

    Always the best,
    Missy Leone

  2. Sorry it took me so long to reply. Your comment notice must have ended up in my spam folder.

    We are relieved to have a dx, even though it would have been better if there were a treatment for it.

    I've joined MitoAction, MDA, UMDF, and found a great Mito Adults and a MITO Support group on Facebook. I tried mitooldies, but I don't like that format. FB suits me better.

    I'm not much for socializing and certainly not up to traveling. I have received notice of a more local support group social and am trying to convince myself to attend it.

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