Saturday, July 10, 2010

Mitochondrial Disease

While I attended the Chelmsford Country Fair and walked around with Rob and Sierra checking out all the booths, we came across the booth for Immune Deficiency Foundation. Mitochondrial Disease is a disease I had never heard about and I was so happy that Stefani reached out and asked if I could come over and speak with her. She told me that she was diagnosed with this disease as an adult and after carrying her daughter during pregnancy, it was discovered that her daughter also has this disease, and now her son will be tested to see if he is a carrier as well. Her story amazed me as well as the fact that I have never heard of this disease and that there is no cure. To listen to a person who is living through this tell you that there is currently no cure, makes you want to learn and see if there is anything you can do to help. That's where I hope the power of the title of Mrs. Massachusetts will allow me to provide some support as well as spread the word. The one thing that I have learned this year is that you just never know how your life can be impacted any different day and from what. I look forward to being in touch with Stefani and figuring out a game plan on how I and others interested can help.

Here is a little bit of information about what Mitochondrial Disease is: Mitochnondria are often called the "powerhouses of the cell." They are specialized compartments within almost every cell and are responsible for producing the energy needed by our body to sustain life. Mitochondria combine oxygen from the air we breathe with calories from food to produce the energy required for all bodily functions. If the mitochondria fail to produce sufficient energy, the cell will not function properly and organ systems will fail. There are more than 40 known types of mitochondrial disorders and more then 200 inherited diseases of metabolism that are known to affect mitochondria. While the majority of the cases are inherited, there are cases in which the disease seems to be a random occurence. Patients present with wide range of symptoms including strokes, seizures, gastrointestinal problems, blindness, deafness, respiratory diffficulties, lactic aciosis, immune system problems, autistic-like symptoms, and liver disease.

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1 comment:

  1. Thank you so much for posting this Jane...for being a voice for so many and for having such compassion for a complete group of strangers. It was a pleasure to meet you and I look forward to doing great things with you in the future!
    Yours Toward A Cure,
    Stefani Bush
    President, New England Chapter
    Untied Mitochondrial Disease Foundation