Tuesday, September 18, 2012

Mitochondrial Disease Awareness week

If you haven't heard already, it is mitochondrial disease awareness week. What does that mean? It's the week where families all over the world talk non-stop about the disease that has affected their lives so much. Have you heard of it? Are you tired of me posting about it? I hope so! How is it possible that so many people have never heard about a disease that takes more children's lives than cancer?? This disease affects 1 in 3000 children by age 10 and yet no one can even tell you what a mitochondria is. Well let me tell you again what we deal with every day...

Mitochondria are the power houses to all the cells of your body. They take the food that you eat and turn it into the energy for your body to use. Try to think back to 9th grade biology when you learned about the Krebs cycle and ATP. There you go, that where the problems start. Imagine a remote control car. When the batteries are fully charged you can zoom it up and down the street over and over. The remote control works well and it's lots of fun. When the battery is almost empty it starts to slow down. It's slow to respond to the remote control until it doesn't work at all. That is mitochondrial disease. The mitochondria power up your cells. Make them zoom around and perform their programmed task. But when they have mitochondrial disease some cells only make half the energy they are supposed to, some don't make any at all. So the body moves slow and is slow to respond to the brain or remote control. Each cell has different amounts of mitochondria. The skin cells have very few, so mitochondrial disease doesn't really affect the skin. The brain cells have thousands of mitochondria so mitochondrial disease REALLY affects the brain. So if you think of the hardest working organs and parts of your body you can see where mito can do the most damage.  Everyone with mitochondrial disease has different symptoms. This is because the number of affected mitochondrial in each cell is unknown. So you can have mito where your cells only make 10% of the energy they are supposed to but it only affects 2% of your cells so you have mild symptoms. Then you can have someone else whose mitochondria make only 40% of the energy they are supposed to but 80% of their cells are affected so they have very severe symptoms. To add more confusion, symptoms can vary everyday. On good days, the mitochondria can function well and the unaffected mitochondria can step it up. Add something like a minor cold or a little over exertion and affected mitochondria can stop working completely and leave only the few unaffected mitochondria to run the show. These can be very bad mito disease. Sometimes you can recover to baseline and sometimes the changes are permanent or at least long lasting. These challenges make diagnosis mitochondrial disease very tricky.

Just in time for mitochondrial disease awareness week we finally got back the type and confirmation of Audrey's disease. This was a mixed blessing. It is a relief to know for sure this is what is wrong with her. We haven't missed some rare disease that we could have been treating. Obviously though, she definitely has a horrible disease which not only cannot be cured but does not even have a treatment. It's a disease that we don't know what will bring to her in the future. She could get better, she could stay the same or she could deteriorate before our eyes and there is nothing that will tell us what will happen or when. We will live in fear of every cold or stress she goes through that maybe this will be the time she has a mito crash she can't recover from.

Audrey's muscle biopsy results show she is affected in complex I. There are 5 complexes in the mitochondrial energy cycle. The defective part of her mitochondria affect 2 parts of the cycle. This enzyme in Audrey functions at 7% of what it should be functioning. What does this mean? We don't know. No one knows how this will affect her or what her outcome will be. In the meantime though she is thriving and that is what we can focus on today.

Audrey is doing better right now, then she has since she was diagnosed. She has good energy and is only sleeping 15 hours a day. Her speech is improving every day and she is making 4-5 word sentences finally. She is slowly getting stronger and is definitely getting bigger. She is silly and happy and playful.These are the things we focus on. Yes, she still needs oxygen and IV nutrition. Yes, she has not been able to tolerate any more formula through her feeding tube. But all of her interventions are helping her grow and become strong again, and for now that is the only treatment we have for her.

Below are some links for mitochondrial disease awareness week. The first is a video made about Audrey's journey the past year. The second is a link to a photographer friend who took beautiful pictures of Audrey. It is awful and amazing to look back and think one year ago we were just starting this journey. Audrey was still eating and drinking food by mouth. She had never had an IV or surgery. She had no scars on her little body. Now, 12 months later, it's been 6 months since she's eaten anything by mouth. She's had several IV's and 2 central lines. She has 4 scars on her beautiful body. Our consolation is that we know what the problem is. Our hope is that we can find a cure for her before its too late. So help us and spread awareness. Tell everyone you know about mitochondrial disease. Ask questions, google, investigate and donate. Our mito warriors need all the help they can get.

One year with mito

Kevin Amick photography

Friday, September 7, 2012

Catching up

I apologize for the long space between postings, life is crazy as usual! So what is new with our journey with mito...

Audrey continues on her PN and lipids through her PICC line 24 hours a day. It has been 4.5 months and she has not made any progress with her feedings. The good news is she is growing well. Her height is up to the 65% and her weight went from the 8% to the 80%!!! So she is on a little TPN diet right now :) She looks great right now so that is what is important. Her feeding intolerance continues to be a source of frustration. She receives 17mls an hour and her goal is 40mls per hour. So she is not quite at half her rate. Any attempt to increase has been met with disaster within a few days, her gut just stops working. She pours out huge amounts of bile from her g-tube and nothing comes out the other end. Oh well, I guess the PN is what she needs right now.

Aside from her nutrition, since I wrote last Audrey has had 2 hospital stays, 3 procedures, 3 x-rays and 2 blood transfusions. Not to mention her countless doctors appointments. Yep, she keeps me busy. This week has been a big week for change for her. She had her last sessions with her therapists from regional center. This was very sad as she's been working with them for a year now. Especially Anne, her physical therapist. They really bonded and she will be greatly missed. Since Audrey turned three, she started with the school district. She goes 5 days a week for 2 hours and they work her PT, OT and speech therapy into those 2 hours and "normal" preschool stuff like A, B, C's. She's gone 2 days so far and loves it! Yay! For all you who remember my blogs about the horror of dropping her off at daycare, I was understandably nervous about how this drop off would go, but so far so good!

So that is pretty much all that is going on right now. There are definitely changes coming up that I will write more about later and Mitochondrial Disease Awareness Week starts September 16th so be prepared to hear alot more about mito!

Big girl is three!

Last day with Anne :(

A lollipop for Audrey

A happy birthday button