Sunday, March 25, 2012

Amber Bucket List - Mitochondrial Disease

My friend Amber has mitochondrial disease.

A mitochondrion (single mitochondria)
What is mitochondrial disease?  Mitochondra are the batteries of every cell of your body, except your red blood cells.  That means that basically every single function you do whether you notice them or not are reliant on your mitochondria.  It's all of the mitochondria's jobs to take the energy you give it from your food, and turn it into energy on whats called electric transport chain.  Now imagine if those "batteries" are running low, only have half or a third batter life in some areas of your body, 75% in others, or almost nothing in still another area.  You might imagine you just have to work harder, to make up for what areas are lacking.  While that is true that people with "mito" do have to make 10x the effort to get 1/2 the result, there isn't much to be done about parts of the body affected by mito that are involuntary functions such as the gut.

The mitochondrion house many copies of your mitochondrial DNA (mtDNA), up to several hundred per "organelle".  Usually mito disease is caused by a genetic defect either in your mtDNA or your nuclear DNA (nDNA).  There is sometimes no gene found, just because our DNA is SO complex! in that case all the doctors know is the mitochodria are not working right.  Remember how mitochondria is in every cell of the body, except the red blood cells?  Well since somebody with mitochondrial disease can have these defective mitochondria in any area of their body essentially, that means a lot can go wrong.  The gut can stop working properly, resulting in dysmotility or total gut failure (meaning the stomach and intestines don't contract right, and/or absorb food.)  The heart can stop beating in the right rhythms, heart failure can occur.  Any one of the nervous systems can malfunction-it's incredibly common for mito patients to have dysautonomia or even autonomic failure (meaning the autonomic nervous system malfunctions/fails.  the ANS controls body temp, BP, HR, and so much more).  Eye problems, hearing loss, joint and bone disorders and autism are all seen.  Sometimes, two patients with the same type of mito look different.  People with mito suffer from extreme fatigue and usually require the use of adaptive equipment  such as wheelchairs, walkers, and braces to help the person or child walk through weakness/low tone, and many other problems.  

Prognosis varies: some live fairly normal life spans others don't make it past their first year-an angering truth.  It is important for you to know that more will die of a mitochondrial disease than cancer.  A baby is born every 30 MINUTES that will develop a mitochondrial disease by the age of TEN.  There is no cure, not even any medication, to be given.  There is however an often very effective supplementation treatment called the mito cocktail.  Things like Coenzyme Q10, Creatine, Carnitine, Arginine, B Vitamins, can improve quality of life and help reduce symptoms.  Otherwise the course of action is to treat the other diseases and syndromes the overlying mito creates.
There is the link to Amber's Bucket List again, if you can help you'd be helping out a really special young woman!  Every little bit helps.  Today Amber said "There are good people in this world."  I have to agree, so many have stepped up, many prayers have been raised.  Mito wreaks havoc, and distraction is a great way to keep spirits up when dealing with such a monstrous disease.

Love, Milly


  1. A great mitochondrial awareness post! I had no idea more people die of mito than of cancer. We hardly ever hear of mito in the press. Mito certainly describes the “low battery” effect I have with what has been labelled ME/CFS, with all the body temp, BP, HR, digestive problems, neuropathy, post exertional malaise, etc.. Perhaps ME/CFS is a milder form of mito?? I tried CoQ10 in the 1990's but not at the level suggested and not the whole cocktail, so I may give the cocktail a try as an experiment.
    I'll hop on over to Amber's page.

  2. Hi Milly,
    i work at a lab which is sort of focused on mitochondrial funciton and what happends if mitochondria cannot make sufficient energy occurency.I came acrossed your post annd wanted to wish you all the best luck with your health and wish you would be able always to do the things you love to do. Mitochondrial disorder is a devastating disease. I wish someday we all together can come up with truly effective and reliable treatments for them if we work hard and are smart enough.


    1. Thank you for the work you do to help my friends, including Amber (and myself if mito is my diagnosis). I pray for a cure - we need people like you working for that, it's wonderful to hear from you!

      God bless,