One of my FB acquaintances quoted the head of the United Mitochondrial Disease Foundation from his blog. It was an amazing blog to me because he showed what it is like to have a mitochondrial disease with metaphors.
Here is what he said:
"Okay so here it is; mitochondrial disease occurs when the body cannot produce enough energy to sustain life. Of course this is sort of like saying the earthquake that caused the domino disasters in Japan is the result of an acorn that fell off an oak tree in San Diego.
Mitochondrial Disease is like:
Replacing your car battery with two Double “A” Energizers and wondering why it won’t start. But your car still looks pretty good, that is until it begins to rust from inactivity.
Trying to supply the electrical requirements of Los Angeles (pop. 3.7 million) with the one electrical plant in Ranchester Wyoming (pop. 701).
Swimming against Olympian, 8 Gold Medal winner, Michael Phelps, and you’re pool is filled with molasses." --Charles A. Mohan, Jr. is CEO and Executive Director of the United Mitochondrial Disease Foundation (Retrieved from http://umdfblog.com/home/?p=338)
He said a lot more, but those were my favorites!
Mitochondrial disease is much newer to the medical table than other diseases. Mitochondria have their own set of DNA, which can contain so many different kinds of defects. As a result of these defects, various functions of the mitochondria can be affected. On top of that the mitochondria have a whole series of steps in converting, storing and using energy. Any number of things can go wrong, and without an obvious source in the areas that are currently understood by scientists, many mitochondrial diseases are elusive.
Because mitochondria are the "powerhouses" for every cell in the body, a defect can affect most body systems. Depending on where the defect is will determine if the damage stays within a certain body system or becomes multiple body systems.
Here's a quote from the UMDF website describing mitochondrial disease: "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."
Originally mito diseases were thought to be childhood diseases, but adults are being found more and more with mito disease. The thought is that they had the defects since birth, but that it takes a long time for enough mitochondrial damage to occur that it shows symptoms, or even that it was just elusive as a child and missed.
While there is a wide range of testing for mitochondrial disease, only the most obvious kinds will show up on basic testing. This testing includes muscle biopsies, labs for lactate levels, organic acid levels, liver enzymes, muscle enzymes looking for muscle damage, and even organic acids of the spinal fluid. Despite the best of scientific knowledge about mitochondrial disease, even these tests are not 100% accurate in diagnosing it. There are obvious types that will be diagnosed using these methods, but a negative result of these does not exclude mito disease.
The UMDF says "Think mitochondrial disease when 3 or more organs are involved."
Mitochondrial disease can be a result of inheritance or rarely by a spontaneous mutation.
These pictures show the inheritance pattern of mito disease:
The first is if the father and mother are both carriers. Then 25% of children are at risk of having the disease and 50% risk of carriers. The second shows if the mother has the mutation in her cellular DNA, the chances are that 50% of her children will for sure have the disease. The third is if the mother has a mutation of the mitochondrial DNA. Then 25% will have full effectiveness, then the effectiveness gets milder and one child may not show signs at all.
This last one seems to be how our children are showing signs.
Kimber is affected. Nikki shows less signs than Kimber, but has some, Joshua even less than Nikki now, although he had a lot of signs when he was an infant, and Amy seems to not have any signs at all. Interesting to say the least.
Treatment:
There is obviously no cure. A person with a mito disease will have it for their lifetime, and depending on the area and type of defect will determine their lifespan, quality of life and severity of symptoms as they get older. Certain types, like MELAS, reduce the lifespan due to complications from the disease.
Physical therapy, occupational therapy, speech therapy, and assistive equipment are just a few of things that mito patients have to help. The other treatment, which is not proven to be effective, but has been shown to be very helpful, is supplements. The "Mitochondrial Cocktail" is a group of supplements often suggested by physicians. They include L-Carnitine, Coenzyme Q10, Creatine, Vitamins C, B, E, alpha lipoic acid and L-arginine. Many of these supplements are thought to be helpful in allowing the cells to use energy more efficiently.
Kimber and I take part of the cocktail currently. She is on L-Carnitine and COQ10, and I take those and Creatine. They have helped us significantly. I was in a bit of denial and have been for a while since the type we have has not been figured out. How can we have a disease and not know what type it is? It not really show up on diagnostics.... A few months back I ran out of the cocktail. Pretty much I let Kimber have the rest of our supply because it helped her so much with her school performance. And in the last month I have deteriorated to where I was before I started taking them. Proof to my doctor that it is a mitochondrial disease, even though it is choosing to be elusive. I am still a bit skeptical, but when the cocktail comes in and I begin again, I guess we will see if there is a marked improvement like last time. I guess then I will know for sure.
I've decided I am going to start posting on different types of mito diseases. It is such an elusive disease, it's often called the great masquerader. Everyone needs to know what it is and how we are affected by it.
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