Mitochondrial… What is THAT?!?!

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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. The disease primarily affects children, but adult onset is becoming more and more common.

Diseases of the mitochondria appear to cause the most damage to cells of the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems.

Depending on which cells are affected, symptoms may include loss of motor control, muscle weakness and pain, gastro-intestinal disorders and swallowing difficulties, poor growth, cardiac disease, liver disease, diabetes, respiratory complications, seizures, visual/hearing problems, lactic acidosis, developmental delays and susceptibility to infection.

Our niece Megan Grace was born on August 3, 2003. She was diagnosed with Mitochondrial Disease (complex 1) on December 2, 2004, at the age of 16 months.

This disease affects those diagnosed very differently. Megan’s disease specifically has caused her to have significant developmental delay, dyspraxia, gastrointestinal problems, severe gastro-esophageal reflux, slow growth, sensory processing disorder, heat intolerance, speech and feeding difficulties.

Megan so far is coping with her disabilities through the help of many specialists and therapists. She is responding to the supplements and progressing in a good way, however the doctors can not give us any idea of what the future holds. For now, there are no proven treatments for mitochondrial disease. There is no cure.

Megan just went through a major surgery this past Tuesday and is still in ICU at Children’s Healthcare of Atlanta (CHoA) at Scottish Rite. The surgery is called Nissen Fundoplication (fundo for short) and involves folding of the fundus (top of stomach) around the bottom of the esophogus. This will keep stomach acid, food, etc from going back up into the esophogus. She will be able to eat or drink, but nothing can go back up. I have heard it referenced to a oneway trap door. This will make it virtually impossible to throw up and it is permanent. It may not eliminate all of her reflux, but it will certainly make it much better.

Megan is truly one of the sweetest little girls you will meet. She has such a zest for life even though she has to wear a backpack for 24 hour drip feedings and now has been told she will be on O2 nasal cannula 24 hours a day as well. She is bubbly, funny and curious. And of course, absolutely adorable.

You can view current updates on Megan on her care page or learn about her journey and Music for Megan on her webpage.

Please email this blog posting to everyone you know by clicking here. Since there is currently no cure for Mitochondrial disease it is EXTREMELY important that we build awareness for this disease and educate people on how they can make a difference. You can even join UMDF as a HOPE member at no charge! I encourage you to do so. I encourage you to take action and make a difference in the lives of children like Megan.

To learn more about Mitochondrial; how you can become involved in your local chapter; to join as a member; to make a donation; and for a listing of upcoming fundraising events, please visit UMDF.

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