Mitochondrial Disease

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This morning, Drew picked this card from our Advent “Giving Calendar”  “Do something especially nice and out of the ordinary for your sister or brother.”  I decided to help my sister Kathi spread the word about the disease her son, my nephew, Michael has.  It is called Mitochondrial Disease.  Mikey has been in and out of the hospital numerous times in his nine years.  He has had a colostomy and although he eats, he is only able to absorb small amounts of food by mouth.  Therefore he has to receive nightly feedings through boluses which contain a high caloric formula.  He is on the autistic spectrum and goes to a special school that can handle his medical needs.

I know that my sister and other Mito families are trying to spread awareness about Mitochondrial Disease.  I have added some information about the disease that I found on 

I am sure Kathi would love for you to read about him.  Michael’s story can be found on a Carepages site – Mystery Mikey.

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.
  • The incidence about 1:3000-4000 individuals in the US. This is similar to the incidence of cystic fibrosis of caucasian births in the U.S.
  • There are many forms of mitochondrial disease.
  • Mitochondrial disease is inherited in a number of different ways
  • Mitochondrial disease presents very differently from individual to individual.
  • There may be one individual in a family or many individuals affected over a number of generations.

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

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