Wednesday, September 22, 2010

Mitochondrial Diseases, A Little About Me

This is Mitochondrial Disease Awareness Week and I thought I would tell you all a little bit more about the disease that is a part of who I am.  If you are a person who likes a formal definition this one from  the United Mitochondrial Disease Foundation is pretty good.
Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells. Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When they fail, less and less energy is generated within the cell. Cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fail, and the life of the person in whom this is happening is severely compromised.
Mitochondrial diseases can affect people differently.  For me my muscles are impacted so I use a wheelchair and a computer, I have less endurance and energy than other kids (but still plenty to be a kid).  I have problems with my lungs that I take medication to manage (I needed oxygen before, but not right now).  I have to be careful about temperature and getting enough to eat and drink so I have lots of cardigan sweaters and water bottles. And I can have serious medical issues pretty much any time.  My brother also has Mitochondrial disease and many of the same issues, but some differences.  For both of us it has been this way all our lives and although some parts are YUCKY and not pleasant they haven't stopped us from having mostly normal lives.  We go to school and have friends and hobbies.  We pretty much lead normal lives.  Mitochondrial disease is not something that a lot of people know about, so I get excited when I find a book like A Wind in the Door by Madeleine L'Engle.  I'm optimistic that life will imitate the book and we will find a cure for Mito.


  1. Thank you, Laura, for sharing this! It is definitely good for everyone to be informed.

    And when the heck are you going to read Phantom Tollbooth?! =)
    -Sam B. from Cincinnati

  2. I'm grateful for the info. I'll be reading more about this!

    And my fingers are crossed for a cure!

  3. One of my closest friends has Mitochondrial Disease, and when she got the diagnosis she called me and we talked about A WIND IN THE DOOR. I know this can be a yucky thing to live with, and I too hope there can someday be a cure, for her sake and yours!

  4. Thanks for sharing that, Laura, because a lot of people aren't familiar with it. I'm hoping for great advances. Soon. And a cure. You hang in there, sweetie!