What is a Mitochondrial Disorder?

Basis of the 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.

So we are focused on quality of life here.

Hospital Day........ We have three appointments and it will be a long day. Got the new wheel chair just in time.

hmmmmm was I freaking out yesterday in anticipation of their scrutiny??

ALso..... Zach isn't doing well. rrrrrrr He's not breaking through the pain medication he is not having pain episodes and hurting himself. This is a huge improvement. HUGE.

He just has no energy. It scares me to see him so weak. I am struggeling to read about the mitochondrial disorders.
There isn't much out there and most of it is written for a genius reader..... ( need I say more?)
I am guessing he is having a growth spurt and it uses all of his rescources ( cell energy) and so he's exhausted from growing.
I am pushing juice and soda on him so we've stayed off the IVS...... HUGE improvement...... : )

For the record I love these doctors and Childrens hospital. I used to hate those scenes in movies where they gush all over the doctor ........ they are still cheesey but I do get it now...... I really do!

I am confident Zach's blood test will be good and then he'll get a flu shot.... and then a toy......

Saved by the pie. I took Zach out for breakfast. Trying to get someone with autism out of the house when they don't want to go is a challenge. Becasue of his mitochondrial disorder, I ordered pumkin pie. He took forever to eat it. He actually peels off the top layer, avoids the crust and cuts his bites into even square pieces and makes sure they are perfectly placed on his fork. That used to be my job. I helped him a little, I was enjoying my coffee, when I heard this little sweet voice say...... This is milk, I don't drink milk. I looked around to see who said that. It was Zach! He had a kids cup so I couldn't see what was in there. He reached over and took my water and drank it. I was so impressed that he told me what was wrong and fixed the situation. AHHHH what a great relief to see him so calm and communicating. I hoped the pie would stimilate his appetite for the rest of the day. I am still not used to the high carb diet for him and it feels wrong but works. The pie keeps us out of the ER but he hasn't bounced back yet. I think we'll make it. Really, the IV is so helpful it's not the end of the world if we have to go get it. The last time we went in, they had it ready and waiting for us. We were back home in under six hours. We used to show up and go through hell to convice them to give it to him. I'd have Dr. Joseph ( pain doc) call in and explain that it works and they'd do it out of respect for him. Now, we belong to the Genetics Clinic and they roll out the red carpet for us. It's awesome! In the begining, I was reluctant to have a lable put on Zach and avoided medication. Now, I think more lables, more help. I guess it would be differnet if he could attend public school. We have tired. ...... My brother died when he was 15. He never was as strong as Zach. If Zach is going to have a short life then why not pie for breakfast?