September 18th through the 24th is Mitochondrial Disease Awareness week.
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. Mitochondrial disease is as common as childhood cancer. There is no treatment and no cure and most affected people never live to adulthood.
Sure sure....you must be thinking, why does this matters to me? Here is why I think we need to spread awareness....children are dying from this and I don't believe they have to be. My son is a perfect example of this. He had severe seizures that were hard to control. He wasn't diagnosed properly and was give a medication that became toxic to his body. His liver failed and we lost him 2 weeks before he turned three. It was suspected too late in the game that a mito disease called Alpers might be the cause of his seizures. Just a short 3 years later Averie had her first seizure....because I was AWARE of mito I was able to make Averie's doctors AWARE. Thanks to the research that had been done and to a doctor in Seattle we were able to diagnose her properly and get her the right meds and aid in her energy production. We have had ups and downs and have to continue to make new doctors AWARE of her condition, but progress is being made. Even now I'm able to have hope for Averie's future because a pharmaceutical company has made mito their business. Averie's participating in a drug trial that I'm confident will revolutionize the world of mito! Right now they are doing trials on the most severe cases of mito. Averie's is one of the first 6 Alpers kids to get the med and several families we know have either completed the trial or are currently participating with positive results!
What can you do to help with mito awareness? You can visit www.umdf.org to learn about the symptoms mito disease. You can share my blog with your friends and family so that the word MITO becomes a word people know. I want medical professionals and parents to THINK MITO! It could save a life!!!
My son Lane and my daughter Averie are my mito warriors :)
Our little trooper is looking much more comfy after having the trach placed. All my fears of a trach have been eased...probably because I can see my girl's face again! She's being kept comfortable and slowly her heart rate is coming back to normal range. She has minor twitching in her hands and feet...her face is the most prominent area of twitching now. Even with that her body seems much more relaxed. She was holding her jaw clenched, but today its not! Yay! This week we should get her gtube placed as well! Then we will start weaning her off the vent and get ready to go home! My goal is to be home by Oct. 1st! We most likely will have in home nursing until she doesn't need the trach. Wow...hard to believe today is end of week 6 of our hospital stay!