My Rare Disease Story: Living with Mitochondrial Myopathy

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

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


  1. says

    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. says

    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. Anonymous says

    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. says

    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.

  5. says

    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.

  6. says

    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!!)

  7. says

    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. Diane says

    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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