Sunday, September 16, 2012

Excuse me, what did you say? Pt. 1

My goal is to blog every day this week in honor of Mitochondrial Awareness Week. Given that I have obvious challenges with posting on a regular basis, we will see how it goes. It isn't that I don't typically have things to say. I always have something to say, especially about topics that are important to me such as this one. It is just finding the time, as well as the courage and strength to commit my thoughts to written form often stands in my way. It's hard putting yourself on paper. It makes things far more real and raw than when they swirl around in your head.

Mitochondrial Disease Awareness Week may not be a big deal to you. After all, it seems like it is always awareness week for something. There are ribbons of every color to represent all types of conditions. This condition, Mitochondrial Disease is a HUGE deal to me. It has affected my life deeply. It has allowed me to grow in ways I didn't know I needed to, and frankly didn't want to. It has permeated my family's life in every way. It has battled for my daughter and some days, I think it really is winning. And I think, if it is winning, then what all is my kid losing?

"Excuse me, what did you say? She has what? Did you say mitochondria? Wait, I remember something about that...was it in biology? It's in the cell, right? Wow, I should have paid closer attention in that class. This is way, way, way over my head."

Since that day, it has become abundantly clear, that I am not alone in my ignorance on this topic. It appears that Mitochondrial Disease is something even very few physicians are well versed in. This reality makes obtaining a diagnosis and necessary treatment beyond difficult. As the parents of a "Mito kid", we had no choice but to become "experts" in this condition, and often find ourselves educating the EMT/Paramedics, nurses, and physicians that are called on to treat our daughter. Ignorance is rampant, knowledge and awareness are vital.  So, today let's just start with some facts.
 What are Mitochondria?
  • Mitochondria are tiny organelles found in almost every cell in the body.
  • They are known as the "powerhouse of the cell."
  • They are responsible for creating more than 90% of cellular energy.
  • They are necessary in the body to sustain life and support growth.
  • Mitochondria combine oxygen from the air we breathe with calories from food to produce energy.
  • Mitochondrial failure causes cell injury that leads to cell death. When multiple organ cells die there is organ failure.

What is Mitochondrial Disease?

  • Mitochondrial disease is a chronic, genetic disorder that occurs when the mitochondria of the cell fails to produce enough energy for cell or organ function.
  • Mitochondrial disease presents very differently from individual to individual.

What are the Symptoms of Mitochondrial Disease?

The severity of mitochondrial disease symptoms is different from person to person. The most common symptoms are:
  • Poor Growth
  • Loss of muscle coordination, muscle weakness
  • Neurological problems, seizures
  • Autism, autistic spectrum, autistic-like features
  • Visual and/or hearing problems
  • Developmental delays, learning disabilities
  • Heart, liver or kidney disease
  • Gastrointestinal disorders, severe constipation
  • Diabetes
  • Increased risk of infection
  • Thyroid and/or adrenal dysfunction
  • Autonomic dysfunction
  • Neuropsychological changes characterized by confusion, disorientation and memory loss.

How is Mitochondrial Disease Treated?

  • Treatment consists of vitamin therapy and conserving energy.
  • The goal is to improve symptoms and slow progression of the disease.
  • Conserve energy
  • Pace activities
  • Maintain an ambient environmental temperature
  • Avoid exposure to illness
  • Ensure adequate nutrition and hydration

How common are mitochondrial diseases?

  • About one in 4,000 children in the United States will develop mitochondrial disease by the age of 10 years.
  • One thousand to 4,000 children per year in the United Sates are born with a type of mitochondrial disease.

What are the Challenges of living with Mitochondrial Disease?

  • Affects multiple organs, affects multiple family members, affects multiple generations.
  • Lack of awareness and understanding of the disease
  • Families are continuously forces to expend their very limited energy to explain their disease, advocate for themselves and fight for services.
  • Mitochondrial disease is often an " invisible disease."
    • Good day - patients look fine and healthy. They have more energy and appear rested.
    • Bad day - - patients appear tired to significantly ill. They are obviously fatigued and/or have significant illness. Repeated "bad days"often lead to decompensation and patients have difficulty returning to baseline.
  • Mitochondrial disease is unpredictable. Day to day, hour to hour patients can develop symptoms and their stability can be threatened.
  • Difficulties establishing a diagnosis interfere with a patient's ability to obtain adequate recognition, medical care, adequate insurance coverage, healthcare supports and disability services.
  • Lack of understanding of the disease and misinterpretation of symptoms can lead to misdiagnosis. Further progression of symptoms can occur if the symptoms are missed and opportunities for treatment and support are not recognized.
  • An individual can become symptomatic at any time in life despite the fact that it is inherited.
  • It is difficult to diagnose.

What is the Prognosis for Someone?

  • The prognosis is variable. Some people live a normal life and are minimally affected, others can be severely compromised with the disease.
  • It is completely individualized.
  • The prognosis is unpredictable.
 There is no cure at this time.

 "About Mitochondrial Disease-MITO FAQ". Retrieved from


  1. Thank you Nicole for helping to educate & share this Mitochrondial information. My prayers, thoughts & hopes are always with all of you.

  2. Nicole,
    You are an amazing mother!
    You have stood up to this disease from the very beginning....even before you knew it's name.
    You have spent countless hours researching Natalie's symptoms to try and figuring out what was trying to take control of her health.
    Even when her doctors tried to steer you in another direction you stood up and told them they were dead wrong!
    When YOU figured out what was wrong with Natalie YOU personally educated Natalie's doctors and their team of doctors on Mitochrondial Disease, a disease they knew nothing about.
    You have refused on a daily basis to stand by and let this little known disease have Natalie.
    Thank you for bringing clarity to just exactly what mitochrondial disease is and how it presents itself.
    This is a very special week. A week where we can all stand up to Mitochrondial Disease and bring much needed awareness to this disease . I love you Nic and I am so proud to be your mother. xoxox