Monday, January 30, 2012

my rare disease story: living with mitochondrial myopathy | rare disease blog hop | little free radical

I joined the The Global Gene Project for a BLOG HOP to help promote awareness for the upcoming Rare Disease Day on February 29th, 2012 by sharing my story about living with mitochondrial myopathy.  

Included in my blog post is a GIVEAWAY at the bottom - be sure to check it out! 

In the United States, a disease is considered rare if 
it is believed to affect fewer than 200,000 Americans
What does the R.A.R.E. Project stand for??
Rare Disease | Advocacy | Research | Education
30 days from now is World Rare Disease Day. Why is the number 30 significant? 30% of children with RARE disease will die by their 5th birthday.

Did You Know:
  • An estimated 350 million people are affected by rare disease worldwide.  
  • 1 in 10 Americans is affected by rare disease, that's over 30 million people. 30 million Americans is more than the total number of people living worldwide with cancer & aids.  
  • There are more than 7,000 rare diseases with some affecting less than 100 people. 75% of rare disease affect children. 
  • Almost 80% of rare disease are genetic in origin.
  • These rare conditions are chronic, life threatening and FATAL. There are NO cures for any rare disease, and only 5% of the diseases have any treatment.
  • Over 50% of Rare Diseases have no foundations, advocacy group or community support.

My Rare Disease Story
Living With Mitochondrial Myopathy

My name is Crystal and I am living with Mitochondrial Myopathy - a metabolic disease of the muscle included in the umbrella of over 40 rare neuromuscular diseases covered by the Muscular Dystrophy Association!

Mitochondrial Disease means that my body cannot properly turn food and oxygen into Adenosine triphosphate (ATP) - the energy molecule necessary to sustain life. Because the disease is in my cells, it affects multiple organs causing secondary diseases.

Although my symptoms started in early childhood, it took doctors over 20 years for a diagnosis, since Mitochondrial Disease is considered RARE.

History of Mitochondrial Disease
Mitochondrial disease was first described in a patient in Stockholm the 1960s, but it wasn't until 1988 that the first molecular identification of cause of mitochondrial diseases occurred. More patients with various forms of mitochondrial disease were diagnosed through muscle biopsies in the 80's and 90s, but it wasn't until the last decade that many doctors began to understand how to identify patients affected by mitochondrial disease.

Additionally, after the completion of the Human Genome Project in 2003, several of the disease-causing genes in both the nuclear DNA genome (nDNA) and the mitochondrial DNA (or mtDNA) genome were identified, and genetic tests have become available to test for them - making diagnosis of mitochondrial disease easier. Additionally, several forms of Mitochondrial Disease can be tested for through newborn screening

Though diagnostics are improving, there are still very few doctors that know how to recognize and correctly diagnose it. In my case, I was actually correctly diagnosed in 2005, when muscle biopsied for a misdiagnosis of polymyositis (another rare neuromuscular disease). Mitochondrial Disease had never been 'suspected' in me, so when my biopsy was sent to a lab they realized it had been mitochondrial myopathy all along, not an auto-immune disease as I had been mis-diagnosed with several times.

How Mitochondria Work:
Inside of nearly every cell in your body are tiny organelles called "mitochondria." These organelles act as "cellular power plants" because they produce more then 90% of your body's cellular energy. When you eat, mitochondria convert the food into its energy form called adenosine triphosphate or ATP through a process called cellular respiration which occurs in the electron transport chain.  The energy (or ATP) is necessary to sustain life as they provide cellular energy for organ function.

What Happens When They Don't Work?
Research shows that if the mitochondria malfunction, it can lead to a number of diseases depending on which cells in the body are affected. Mitochondrial dysfunction plays a role in several neurodegenerative diseases including Alzheimers, Parkinsons, Huntingtons, and Lou Gehrigs disease (ALS - Amyotrophic lateral sclerosis), and studies have shown mitochondrial dysfunction to also be a piece to the puzzle for more common conditions including diabetes, certain cancers, heart disease, blindness, deafness, kidney & liver disease, stroke,  and autism. Mitochondria also play a role in the aging process!

In addition, as many as 2 million American's suffer from mitochondrial diseases - a group of diseases resulting from gene mutations in the mitochondrial and/or nuclear DNA. When these mutations occur, they can also lead to malfunction along the electron transport chain resulting in cell injury due to insufficient energy from their cellular powerplant (the mitochondria). Cell injury can lead to cell death, and when multiple cells die in one organ, that organ won't have sufficient energy for functioning. As this happens in multiple organs as the disease progresses, the individual can portray a wide variety of symptoms.

For me, mitochondrial disease has effected my heart, neurological system, muscles & lungs the most. These organs require the most energy to function, so with insufficent energy it has caused symptoms such as seizures, stroke-like episodes, dysfunction of the autonomic nervous system (which regulates things such as heart rate, blood pressure, body temperature), and  muscle breakdown (myopathy) resulting in me needing to use a wheelchair for mobility and a ventilator due to lung muscle weakness causing pulmonary failure. I also use IV infusions to help stabilize the autonomic nervous system and increase my heart rate & blood pressure.

Another person with mitochondrial disease may present completely different. Some individuals may have less trouble walking and more trouble with issues like learning disabilities, autism, cognitive problems or developmental delays. Some may become deaf or blind while others rely on feeding tubes for nutrition. No two individuals (even within the same family) will present the same way. Because of this, it makes it harder for many doctors to recognize the signs.

Did You Know: There are more children in the US affected with Mitochondrial Disease then all forms of childhood cancers combined! Mitochondrial Disease may be considered a "rare disease," but it's far more common then you'd think! At least 1 in 4,000 people in the United States are living with Mitochondrial Disease! Who are some of these people? Here are a few familiar faces:

Actress Chandra Wilson (Dr. Miranda Bailey from Grey's Anatomy)'s daughter, Serena is living with Cyclic Vomiting Syndrome (CVC) - a Mitochondrial Disorder. She shared her daughters story  on The Doctor last year:

Baseball Player, Rocco Baldelli put mitochondrial disease in the news in 2008 when he was diagnosed with Mitochondrial Disease. He was later diagnosed with a channelopathy, but his story inspired many young children also affected by Mitochondrial Disease. During his career, he played for both the Tampa Rays & the Boston Red Sox, but after numerous injuries, his health forced him to retire at age 29. 

"I physically don't feel like I should be playing anymore.'' - Rocco Baldelli
Charles Darwin (father of evolution) spent his life battling a chronic medical condition which multiple researchers believe to be a maternally inherited (mtDNA) Mitochondrial Disorder. Here are some articles about it:
Mattie Stepanek (MDA National Goodwill Ambassador 2002-2004) also lived with Dysautonomic Mitochondrial Myopathy and died shortly before his 14th birthday.  Since Mitochondrial Disease is genetic, Mattie's entire family was affected by the disease. His mother, Jeni, lost all 4 of her children to the disease. Here's his story as told by his mother:
They're not going to find a cure to this disease, in my lifetime. 
But like Mattie, I believe that finding a cure to any of the diseases is not about a specific lifetime, it's about being a part of the effort because it's somebody's lifetime. 
          I am a part of the cure whether that cure is found in 10 years or 100 years.               
- Jeni Stepanek

In celebration of the R.A.R.E. Project Blog Hop, I'm giving away a copy of Jeni Stepanek's book, Messenger: The Legacy of Mattie J.T. Stepanek and Heartsongs (a $15 value)
By Jeni Stepanek (author) with Larry Lindner (collaborator)

An inspiring look at a young man who embodied the best of human nature, touched millions, and worked tirelessly for peace-told through the eyes of the woman who raised him.

Oprah Winfrey has called him "an inspiration," Maya Angelou saw him as a kindred spirit and fellow poet, and Jimmy Carter described Mattie Stepanek as "the most remarkableperson I have ever known." When Jerry Lewis received his lifetime achievement award at the Oscars, footage of Mattie played behind him. Five years after his death from a rare neuromuscular disease, Mattie is still being celebrated for his indomitable spirit and message of hope. Now the world will get to know the full story of the poet, the peacemaker, the philosopher, and New York Times bestselling author in the first book to share all of the intimate details of his incredible life.

In Messenger, Mattie's mother, Jeni Stepanek, recounts the years before Mattie got sick; how he handled the loss of his siblings from the same disease he had; his decision to spread the message of peace and hope; and how, when he became a celebrity, Jeni helped to keep him grounded, and remember to embrace being a kid. Including never-before- seen poems, journal entries, photos, and correspondence with famous friends, Messenger is an inspirational book about a life lived to the fullest.

You can enter for your chance to win by entering this giveaway via Rafflecopter. If you haevn't already, you must open the post for the giveaway widget to appear (click on the post title). Rafflecopter makes entering giveaways super quick and easy!

Mandatory Entry: Tell me in a comment below why Rare Disease Day matters to YOU! Additional entries are in the Rafflecopter widget (to improve your chances to win).Giveaway ends 11:59pm on Rare Disease Day - February 29, 2012
a Rafflecopter giveaway


  1. Thank you for this post! Rare disease matters to ME because my sweet youngest son is living with a metabolic disorder called Citrullinemia (a Urea Cycle Disorder). I remember Mattie and his wonderful writing, what a beautiful soul who left this Earth far too young.

    I learned a lot on this post and appreciate the time it took to make all of those great graphics on this post! How did you learn to do that? The subway art style? It is awesome!

    Anyway, thank you again for bringing your Mito story out for the blog hop!

    Mindy~(fellow rare disease blogger)

  2. Rare Disease Day is important to me because it raises awareness to not only genetic diseases, but also invisible ones. Just because someone doesn't look sick, doesn't mean their body is waging a war on the inside.

  3. Rare Disease Day is important to me because I am a 48 year old with mitochondrial disease in the moderate to severe stage of dementia due to this illness. My family struggles with coping as I slowly lose the ability, not just of using my body, but the ability to use my mind. Thank you for sharing this lovely book.

  4. Rare disease day is important to me because I have 2 children with suspected mitochondrial disease as well as believe to have it myself. It important to raise awareness, promote home, and work hard for a cure for my friends and my own family.

    1. Crystal thank you for the informative post. You are a very talented person and a great writer! My husband and I both enjoy reading your stories. We are both interested in the science of how our bodies work. He's also a cellular molecular biology major.

  5. I found you via the rare disease blog hop. What an informative post this was! I am interested in mitochondrial diseases because although I do not have one, I am on a mitochondrial cocktail as an experimental treatment for one of the side effects of my own rare condition, which impacts all the cells of the body. I am glad to see that more rare disease bloggers are out there - blessings to you as you continue to share your story. (I so firmly believe in story sharing as an important tool of the rare disease community that I recently wrote a book about my childhood and young adulthood living with a rare disease. Continue writing!!)

  6. It matters to me because I have had the opportunity to meet and befriend people who have rare diseases and have hope that with time and research these diseases can be cured.

  7. It matters to be because my daughter has a rare diease, Ornithine Transcarbamylase Deficiency, a Urea Cycle Disorder. My older sister is also living with this disease and unfortunately lost a son to it in 2010. My daughter was diagnosed this past September and since her diagnosis it has been my mission to raise awareness to rare diseases as well as Urea Cycle Disorders. Thank you for this post.

  8. I enjoyed your article. Please pass by and visit my project.

  9. Rare Disease Day matters to me because I've been ill for 40 years with specialists just recently telling me that "medical science is just now beginning to catch up with people like you". I'm almost 60 and hoping it "catches up soon" so I can experience better diagnoses and treatment for the remaining years of my life.

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  11. Your story is so moving, my son has mitochondria myopathy and so do I. It is so good to see you are not giving up and Living life. When my son was diagnosed it was the scariest thing in the world. I did not know anything about Mito disease and I certainly had never heasrd about it. But as I learn more and more about, it is far from rare. Keep doing what you are doing because your story is impacting so many other people lives.

  12. Our specialists have concocted an Inclusion Body Myositis Treatment that is purely herbal and is made out of natural ingredients which are totally natural and have been acquired and joined to frame this amalgamation subsequent to directing a definite examination.

  13. Your story is very inspiring. Thank you so much for sharing.

  14. This post was so informative and inspiring, thank you so much for sharing. I volunteer to help middle schoolers with disabilities to do P.E., and after reading this post I realize that nearly all of them have a mitochondrial dysfunction. The common ones are heart disease, deafness, blindness, and autism. Thank you for teaching more about these diseases and dysfunctions and opening my mind up on a whole new level. You are so inspiring.


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