The ugly stuff....

I haven't blogged in a while and it has been a rather difficult month...

On Sept. 11th we had our long awaited appointment with the genetic counselor regarding the results of the kid's genetic testing. Expectations weren't much but we knew that anything could happen. We expected to find out some interesting genes that could explain Hubby's side of the family and the multitude of heart issues that seemed to be a trend. We also thought that somehow, what the kids were going through, was related to hubby's diabetes and that would of been were it would of ended.

Did we ever hit a brick wall... I think getting hit by a car would of been more productive than dealing with the findings of the genetics tests. That way, modern medicine would of fixed us all up, a few days of recovery in the hospital and off we go with our lives... yeah not so much...

The genetics test came back with a concrete diagnosis. Problem is, there's nothing much that modern medicine can do at this point to help out or prevent.

Here it is: Mitochondrial Complex 3 deficiency with a novel mutation. What? you say? Yeah we know just as much as the general population about it also. Consequently, we found out that I was also affected and ultimatly was the person who passed it to my kids. Not at all your typical recessive inheritance but dominant and I am 100% at fault so to speak.

Here is what we know:
- it's degenerative
- there is no cure
- multiple systems can be affected (such as heart, eyes, muscles, brain ect... Basically everything in the body that utilizes energy)
- we are the only ones with this specific mutation so there's no way to tell what will happen in the future
- The kids seem to be more affected than I am
- the future predicts more unknowns

Not at all what we were prepared for. You that feeling of being alone in the world? Magnify that by 100 and that's what I'm feeling. Being unique is great and all but this royally sucks. The counselor told us that it would take time to accept this and that the next few months will bring lots of testing and doctors appointments (and I thought we were finished with the testing... sigh).

I have always been a very positive person, but I am finding myself very angry and powerless in this situation. As a mother you are expected in your kid's eyes to "fix" them when they get hurt and make things better. How am I supposed to do that now? What if I'm not even myself around to help them go through this, because I am affected also? What do you do with a diagnosis like this?

Virtually every illness out there has a treatment or medication to help you "fix", "cure" or "help". So I'm just going to sit tight and see what happens? because there's nothing I can do? So frustrating....

I refuse to sit by and watch this mutation take a toll on my life and my kid's life. I will make it my mission to see if anything can be done. If not for myself, for my kids at the very least. I'm their mother, I have to "fix" this.

I've always said "You play the cards you've been dealt in life". I don't want to play the game anymore. I want to be the engineer that creates a new card game to life's journey and fabricate new cards.

In the end, I know I am strong and that I will get through this no matter what. It will take time but I plan on making the best out of life for my kids. I want to help others. Be part of advancing genetic breakthroughs and giving anwsers to others like us that receive this kind of diagnosis and don't know what the future holds.