Mitochondrial Disease

This week is mitochondrial disease awareness week. I have been making posts about it on face book but to most it will just be a flash in their news feed, so I wanted to do a blog post. I know I don’t have a lot of readers but I hope that you will think about posting something on your blog of your face book to help spread awareness. Mitochondrial disease is different for everyone, just like cystic fibrosis; we are all going the same direction but we have different paths. For more information on mitochondrial diseases please go to umdf.org

My mito:

I have two rare mitochondrial mutations. One my mother has the other the doctors said is a spontaneous mutation never seen before. The spontaneous mutation is disease causing.

My symptoms currently are:

Muscle weakness & fatigue
Muscle cramping and pain
Muscle spasms
Nerve pain (tingling and numbness)
Joint pains
Bone pain (or at least that is what it feels like)
General tiredness/fatigue
Absorption issues which cause:
Memory loss, easily confused, problems with digestion, dry skin, poor night vision, dizziness, and mood swings.

I don’t have all of these symptoms at once; sometimes 3 or 4 at a time, sometimes only one (those are my good days). I also have cystic fibrosis, so I kind got hit with a double whammy. Two diseases with no cure, a genetic gold mine. (joking) I just got approved for SSDI and I have medicare now, so I will be able to get to a doctor and possibly try some new medications and other treatment options. Before I lost health insurance I was getting IV therapy (vitamins, minerals, and lipids) and they were talking about me trying some physical therapy.

The UMDF website has some good information on mito and all of the possible symptoms. Mito can effect many different bodily systems and functions. A list can be found at umdf.org

What is Mitochondrial Disease?

“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.”

A fighter.

So a few weeks ago I received my notice in the mail. I am officially disabled, according to Social Security Disability. It's been a tough 4 1/2 years, for those who know me the one thing I hate is that admitting I am sick. I'm not able to do the things I used to do, and I'm not getting better. I have been using this blog as practice; because we all know how much easier it is to type your feelings than to voice them.

So I'm still waiting for all of the specifics to get it, but the waiting for a decision is over. And I am happy. I'm happy that I no longer have to "prove" that I am sick and unable to work; happy that I have finally been approved and it is one thing that my family and I no longer have to worry about; happy that I can apply for Medicare. I've got this small part, negligible really, that is not happy. I have a great life and I am so blessed but I want more. I want to be able to walk around without having muscle cramps or pain in my joints. I want to be able to work, I really do. To support my family would be great; I enjoyed working while I was doing it. I wish that I could make it through every day without a nap, to drive the car where ever I want without concern about fatigue and pain.

I have learned the hard way that life is not what you expect it, but it is what you make it. I try to spend my days being thankful for what I do have. Which is a lot compared to some others out there. I will play the cards I’ve been dealt the best way I can, and I hope that people around me will notice my fight instead of my struggles.

http://www.youtube.com/watch?v=bxV-OOIamyk


"Give 'em hell, turn their heads
Gonna live life 'til we're dead
Give me scars, give me pain
Then they'll say to me, say to me, say to me

There goes a fighter, there goes a fighter
Here comes a fighter
That's what they'll say to me, say to me, say to me
This one's a fighter"


I've had people say to me, "I'm not sure I could deal with what you have to deal with". I'm not special, I think we all have a little fight in us. You just won't see yours until you need it. So don't sell yourself short.


"Give 'em hell, turn their heads, Gonna live life 'til we're dead"




(Lyrics from Gym Class Heroes song, Fighter.)