Monday, January 30, 2012

Rare Disease Blog Hop 2012

Rare Disease Day is on February 29th, 30 days from today.  The number 30 is also significant because 30% of children with RARE disease will die by their 5th birthday.  

An estimated 350 million people worldwide are affected by rare disease.  1 is 10 Americans is affected by rare disease, that's more than 30 million people, more that those living with cancer worldwide which is estimated to be at 28 million according to the Livestrong Foundation.  

There are more than 7.000 rare diseases, some affecting less than 100 people.  75% of rare disease affect children.  About 80% of rare disease are genetic.  These rare conditions are chronic, life threatening and FATAL.  

There are NO cures for any rare disease, and only 5% have any treatment.
Over 50% of rare diseases have no foundations, advocacy group or community support.  
My rare disease is Mitochondrial Complex I Deficiency and it is one of the many Mitochondrial Diseases.  I have had it since conception (genetic), but wasn't diagnosed until I was 15 after my second metabolic stroke when I was 14.  I had my first metabolic stroke when I was 18 months old.  I wrote a blog post to reflect on that day: 10th Anniversary.  

Metabolic strokes can damage just as any other type of stroke except they cannot been seen on CT or MRI.  I had most of the features of a typical stroke, drooling, facial asymmetry, etc, but all my brain scans came back normal.  In my case my strokes were caused by some sort of stress.  The first was two weeks after a pseudomonas infection requiring IV antibiotics.  My second occurred hours after a 5-minute water tred test.  Strokes of any kind are rare in children, so after my first the doctors assumed it was a fluke event since lightening never strikes the same place twice.  It was after my most recent stroke and my lack of a "normal" recovery course that my doctors considered Mitochondrial Disease.    

The symptoms of Mito are as wide in variety as they are in severity.  You could have two people in the same room with completely different issues and on opposite ends of the spectrum in terms of severity, but they both have the same condition.  

Symptoms of Mitochondrial Disease
Also, the symptoms of this disease are things that alone are pretty common among the general population such as diabetes, cataracts, deafness, GI issues, poor balance, cramps, muscle weakness, etc.  I have about 8 of the symptoms on this chart.  

Symptoms not listed on this chart include, neuro-psychiatric disturbances, migraines, Autistic features, mental retardation (not my term), atypical Cerebral Palsy, absent reflexes, fainting, Dysautonomia (temperature and BP dysregulation, among other things), hypoglycemia, fatigue, failure to gain weight, short stature, respiratory issues, optic atrophy and a few others (UMDF).  I have 8 of these.  

Thankfully many of my symptoms are controlled with meds.   

Mitochondria are present in every cell in the human body except red blood cells and produce 90% of the energy needed for the body to function.   When they fail, less energy is generated and as a result, cell damage and even death occur, this is why the symptoms of Mito are so diverse.  As this process repeats itself throughout the body, entire organ systems begin to fail.  The symptoms experienced reflect the cells and organ systems that have be affected by the disease.  Mitochondrial Disease primary affects children, although adult onset is becoming more and more common.  Generally, 4 major symptoms have to be present before Mito is even placed on the table. 

Electron Transport Chain
Diagnosis is not an easy process.  Not only that, but there are about 25 types of Mitochondrial Disease.  Complex I, the form of mito that I have is part of the electron transport chain.  There are four others that occur within the respiratory chain, Complex II, III, IV and V.  Some have more than one of the complexes and others have three, but you cannot have all five.  

Complex I Deficiency is "short" for NADH dehydrogenase deficiency and is one of the most common of mitochondrial abnormalities, representing as much as one third of the electron transport chain deficiencies.  Click here to watch a video about the electron transport chain in action.   Often presenting at birth or early childhood, Complex I is typically a  progressive neuro-degenerative disorder and is responsible for a variety of symptoms, particularly in organs that require high energy levels such as the brain, heart, liver and muscles.    

I was diagnosed through a combination of blood work, imaging, and finally a muscle biopsy, actually three muscle biopsies.  Most people only have one muscle biopsy, but I had three.  My first was taken from my upper left arm when I was a baby, not sure if it was before or after my stroke.  The second was the first surgical biopsy from my left thigh.  The third and final came from my left forearm.  The surgical biopsy was performed in Atlanta, GA as a fresh sample.  When I was diagnosed ten years ago, there was a lot of debate between fresh or frozen samples.  That's why I had to go to Atlanta for my biopsy, so that I could be close to the research facility where the sample would be looked at and a diagnosis made.  

Like all of the other rare diseases, Mitochondrial Disease as a whole does not have a cure or even a proven treatment.  The meds that I take treat the symptoms, but have not been proven to improve mitochondrial function.  1 is 2,000 babies will develop Mitochondrial Disease in their lifetime; half will develop it before their 5th birthday.  These diseases are nearly as common as all childhood cancers combined (Wish Upon a Cure).  Every 30 minutes a child is born that will develop a form of Mito by age 10.  At least 1 in 200 in the general population have a mtDNA mutation that may lead to disease.  The first adult was diagnosed with Mitochondrial Disease in 1960s, the first child was diagnosed in 1980s (UMDF).    

Most with Mitochondrial Disease are prescribed a cocktail (no, not the kind you would get at a bar).  The Mito Cocktail is a variety of vitamins and minerals prescribed with the idea that they will improve the function of the mitochondria.  Just as two people with Mitochondrial Disease can have different symptoms and severity, same goes for the cocktail.  The cocktail is custom made to everyone with Mitochondrial Disease because each has their own needs and may have deficiencies in certain levels such as CoQ10 or Creatine.  Some of the ingredients that might be in a cocktail include, CoQ10, B vitamins, C, E, Selenium, Biotin and others.  With all the meds and vitamins, those with Mito might look like this picture -->   

While the vitamins can be bought over the counter, many choose to have all the ingredients combined into one or two pills or liquids which pails in comparison to the 15 pills per day it could be otherwise.  However, because the effectiveness of the cocktail and the ingredients have yet to be proven in research studies, health insurance companies may not cover the cost.  (I have first hand experience.)  This is where you, my readers come in.  Yes, you!

In the world of Mitochondrial Disease, there are two national foundations.  The United Mitochondrial Disease Foundation's focus is on research into treatments and the disease itself.  MitoAction's goal is awareness and community support.  

Like at least some of the other rare diseases, in cases, Mitochondrial Disease is often invisible, you can't see it on the outside.  I participated in this blog hop to not only raise awareness of rare disease, or Mitochondrial Disease, but invisible illness.  Given the statistics above, there are probably more people than you are aware of who have their own "medical life" of meds, appointments and tests.  


  1. Thank you for sharing your story! I have heard a lot about Mito because it is related, somewhat, to some of the metabolic disorders affecting people in our Urea Cycle community, especially OTC. Your post was VERY informative and I learned a lot.

    Thank you!
    Mindy (a fellow rare disease blogger)

    1. Thanks for reading! I noticed upon reading your post that we are fellow SITS girls. Will you be joining the twitter party on Wednesday night at 9pm EST? Very nice to meet you.


  2. I'm participating in the blog hop today also. Your post about Mito disease was very good. I don't think people know enough about rare and invisible diseases. Thanks for sharing your story.


    1. Thanks for reading and commenting! I love sharing my story to who ever will listen.

      Spreading awareness one person at a time.


  3. Thanks for participating in the blog hop! I have Mitochondrial Myopathy, so I've added your blog to my sidebar and invite your comments on my blog, Day by Day with a Movement Disorder, too.

    1. Thanks for adding me to your side bar! Such a place of honor. I have a movement disorder too. Seems like the Blog Hop raised a lot of awareness!



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