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I am a wife and mother who also has cystic fibrosis and a mitochondrial disease.

Tuesday, July 5, 2011

The truth about batteries

Since my last blog I have been trying to be more honest, and while it is getting easier - I still find myself sugar coating things for people. Its not that they don't understand but sometimes - they don't understand the depth of it (does that make sense) Not that it something everyone understands, hell even the NIH in Bethesda doesn't understand my mitochondrial disease.

The mitochondria are the little batteries/power houses of the human cells. They can be found in every cell except the red blood cell. The number in each cell varies depending on how much energy demands. (Think of it like having a pack of M & M's. All the M & M's in the pack are energy, but because I have two mutations the brown and the orange are defective. Each cell depending on energy needs is like a pack of M & M's, so some times the bag/cell has 25% defective mitochondria while the next bag/cell could have 60%.)

Most energy production happens inside the mitochondria, so you can imagine that people with mutated mitochondria get fatigued easy. And how easy varies on a day to day basis. One day getting out of bed is a chore while the next I can go grocery shopping. Additionally one day my digestive system has enough energy to work correctly and the next day - it doesn't. This link explains it much better than I could:

So even though it sounds far fetched that I'm not feeling well two hours after you saw me doing fine; it happens. I'm not lying to get out of hanging out, create drama, to cause problems, or to get things my way. Seriously. I have enough drama from the cells in my body - I don't need or want more.

There are several different mitochondrial diseases, with mine the doctors won't give me any specific name. The reason? My two mutations are rare, so rare that one of them is completely unique to me. So they don't know what to expect and neither do I. I have had symptoms since I was little, but no one realized it. I was clumsy and had poor balance. At 16 I started having noticeable muscle spasms. At 21 NIH figured out that it was not 1 but 2 mitochondrial mutations causing all the problems (IN addition of course to my cystic fibrosis). Now at 34 I have muscle aches, cramps, pain, fatigue and spasms; I don't absorb nutrients the way I'm supposed to. While People with CF have problems absorbing fat and fat soluble vitamins; I got a double whammy and have problems absorbing lipids, fat soluble vitamins, water soluble vitamins, and minerals needed to help my body function. (This is why sometimes I get confused and/or forget things) And they don't know whats next. Honest. I don't want to be sick, and I'm not being dramatic, but the doctors really have no idea what symptoms could be next. They do know that it is progressive, having a genetic progressive disease stinks but I find myself more afraid of the progressive genetic disease that keeps me and the doctors guessing. When I was diagnosed with CF they told me that with the proper care there is no reason I couldn't live to be 40. When I was told about my mitochondrial disease I was told that I may be in a wheel chair by 40.

Why am I putting this in my blog? So that people can read it and understand, hopefully; that I don't want your manufactured drama, your rumors and lies, and I don't want your pity. I want to live life, help my friends and family with real problems. I want to love (as sappy as that sounds) and not get hung up on the little things, and I want that for everyone else too. And I'm also putting this in my blog to get it off my chest, as it has been bothering me for the past few days.

1 comment:

  1. Chrissy thank you for the information. I cannot even begin to imagine how difficult this is for you. If there is anything I can do let me know. I love you!