THINK MITO!

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 :)

Averie Update:
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!

Bumps and bruises...

...its amazing how one event can change how we go about our daily lives. On Tuesday Justin, Ellery and I were on our way to the hospital to see Averie when out of nowhere we were side swiped by a huge red dodge truck. He was pulling out of a business into our lane of traffic and didn't see us. He plowed full force into the passenger side front wheel well. One second I'm looking at my phone and the next I'm trying to comprehend what I'm seeing....a huge red object intruding on my side of the car. Instinctively I closed my eyes and thats when I felt warm liquid running down my face. Immediately my thoughts are of Justin and Ellery and if they are hurt...blood must be coming from one of us, right? I recall asking Justin if he was bleeding...too afraid to open my eyes. when I finally did have the courage I realized it was just my coffee that had been flung throughout the whole car. As soon as Justin confirmed both of us were  alright he was out of the car and checking on Elle...she had been silent at first and then started screaming. He lifted her from her carseat and she clung like a little monkey to him. Totally thinking  "wtf! What just happened!" I'm sure! I realized as soon as I moved to get out that I probably should stay put...shooting pains in my neck and left shoulder were awful! I was sitting there waiting for medics and I could see we had been pushed across the oncoming traffic lane....its a miracle we weren't hit again. Needless to say I got to experience neck braces and a stretcher ride for the first time. Xrays and an MRI later it was determined my neck was fine. I still have tremendous shoulder, collarbone and neck pain as a souvenir. Along with some narly bruises across my chest...thanks to my seatbelt! I'm so thankful for our guardian angel because the wreck could have gone so much worse in so many ways.

Because of our little incident I had to take a couple days off from the hospital. In those two days Averie had made loads of progress. My parents were sending reports of Averie trying to talk...answering questions with head nods and shakes...and transitioning to regular nasal canulas :) So good to hear! I was very anxious to see her, but by thursday she had taken a step back. I was greeted by more seizures and now today a sinus infection that has put her back on bipap. I'm feeling pretty mad that I missed a good day :( I know they'll be more , but frankly I'm angry. I have total faith that this is just a minor setback...but I miss my baby!!! Adding to my frustration is I'm in constant pain...I can barely lift Ellery and when I do I want to cry...I make myself do it....and I'm great at pretending the pain isn't there  but oh, goodness it sure is! Come to think of it I need meds.

.... Just another bump in the road for this family. I'm looking forward to  car shopping, cabelas and a birthday dinner for my hubby tonight.

Fighting something...

So it seems we are fighting a bug of some sort? Today was suppose to be Averie's transition to high flow during day/bipap at night. About 3pm her heart rate started creeping up along with her temperature. She's also been a bit agitated...not very interested in communication and hardly making eye contact. Needless to say we put her back on bipap and drew labs so we could start antibiotics. Hopefully this is just a minor setback. If it is an infection that means a delay in gtube placement....no big deal really. Please continue your prayers....we still have a bit of a hill left to climb before getting to go home :)

...back one our home turf!

So ...we are back in Spokane. Averie is actually doing pretty well. I think we are finally getting on top off the myoclonus seizures...only see movement in her toes and hands. Yay!!!  For some reason we are seeing seizures in her mouth area. She's responding to boluses off Kepra so that might need to be increased.

Another thing on the to do list is a gtube. Everyone agrees she likely won't go home with out one. I am TOTALLY open to this...if only just to make sure she ALWAYS gets her EPI medication. Surgery consult some time today ...I'll keep you posted.

Also slowly spending more time on high flow (5+ hrs) and less time one bipap! So proud of my girl!