Mitochondrial Disease

I have spent a lot of the past month or so trying to wrack my brain about what I want to blog about.  These past few months have been a so exhausting both physically and mentally.  As many of you may already know we are expecting baby Schulz number three...  (that was a HUGE shock)  The diagnosis of my sweet boy and the shock of a very unplanned pregnancy has left me in zombie land not knowing what to do next or have the energy to do the next thing.  Slowly but surely I am plodding along making "peace" with what is happening in out lives.  (I put peace in quotes because I am not sure that I will ever be at peace with Finn's diagnosis, it is not fair, not right that he should suffer.)  A lot of mito kids have earned there wings this winter, the reality of this disease is so so sad, one can only hope that a cure will be found and fast.
Finn has stayed out of the hospital which has been wonderful but his sweet life has not been without struggle.  This week we are meeting with his immunologist regarding this constant infection that he is fighting, he has been on antibiotics for over 3 months and is fine on them but off of them he starts to sink.  IVIG has been thrown on the table along with routine IV infusions to give his body what it is missing...  We have also realized that Finn is no longer gaining weight. For a kid who is on about 2500 calories a day being fed by a g tube that is not good.  We aren't sure what we are going to do next, Finn's amazing nutritionist is working with the Drs in Atlanta to figure out a plan but in the meantime we wait.

So all in all there has been a lot for us to digest and arrange and just plain ole manage at this point.  BUT we went and enjoyed the amazing weather that we have been having!!  Here are two shots of the kids feeding the ducks at Freedom park.

Also I wanted to announce that this years date for the Energy for Life walk has been set!!!  October 15th!  I am co chairing the event again this year and we would love your help, attendance and support as we fight for Finn and all of the other sweet ones who are affected with mitochondrial disease.  Last year we raised almost $80, 000 that went towards research for mitochondrial disease, this year we are really hoping to blow that number out of the water, this disease needs a cure!!  

Shotels and answers...

Life has been a bit over the top lately, sorry for the lack of update!

Atlanta was the most refreshing appointment with a doctor that we have had in a long time.  Dr Kendall is a very impressive doctor who has such a passion for what she does.  She came into the appointment with notes of Finn's records (that is right she had already read them!!!), spent a lot of time really explaining what she does, mito, going over Finn's lab work that is abnormal and finally examining him.  She really picked up on a lot of the things that Finn struggles with; his mito gastrointestinal system (his largest issue), his low tone (hypotonia), the autonomic issues and all of the other things that our sweet boy struggles with.

Her basic confirmation from all of the records that we brought was that Finn has mito, which we already knew.  We came away with a plan to do what is called a buccal swab and more lab work on Finn to hopefully pin point exactly what type of mito Finn has.We ended our TWO hour appointment and headed to what Cadence dubbed the "SHOWTEL" for our first night with both kids away from home in a hotel in a long time (last time was when Finn was 8 weeks old!)  We did a connecting room and the kids shared a room and actually slept all night without incident (after we kept them up past 11!)

Some very thoughtful and gracious friends gave us a gift certificate to eat at a resutaunt for Thanksgiving so we were able to stop on our way home and have some amazing Thanksgiving lunch.  We are blessed so much by those around us, from people giving us snacks and giftcards for the way down, to people praying for us.  We had so much to be thankful for this Thanksgiving.

 We got a call yesterday from his doctors in Chapel Hill yesterday and some testing that they had done on Finn has finally revealed some results.  Finn has what is known as pyruvate dehydrogenase complex (PDC) deficiency (PDCD)  http://emedicine.medscape.com/article/948360-overview.  WE HAVE SOME ANSWERS.  Shitty answers but answers at that.  We aren't sure what all of this means for our sweet boy but to have some sort of validation that there is something that is going on with Finn that we can pinpoint is good (sort of).  There is still so much to process here...  the link about sort of gives an idea of the direction that we are headed but I will let you know was we learn more.

This weekend ended with more fun as the kids and I celebrated Andrew's 30th birthday with him at his office!  Cadence and i made Finn safe cupcakes (gluten free, wheat free, dairy free, soy free, nut free) that were very tastey!   Here is Finn enjoying his;

And here are both of this kids dreaming of freeing all of the cats at pets mart.  I love there sweet hearts.

So coming back home has been life as we know it.  Finn has continued to follow his "lets get an infection every three weeks" and his GI system is starting to suffer again.
Monday morning will bring about some more phone calls and doctor visits that will hopefully clarify what all of this means for Finn.  Finn has struggled this weekend with a high fever and tonight we have noticed a blister around what is normally his pristine g tube site.  He is already on high dose antibiotics so who knows what is causing all of this... :(

Overnighting it

sigh.  Prayers for us as we head to see Dr Kendall next week, my mind is reeling from reading his records.

"it's more like a carriage..."

Finn's new ride arrived this week!!  It is a very supportive "stroller"  that actually fits him and has bells and whistles to hold his pump and oxygen tank.  That being said it is a bit overwhelming to look at, it really can support him regardless of his needs so we bit the bullet and ordered one.  AND he is at the beginning of the limits of the stroller so it will last us a LONG time, it was getting very cramped in the baby stroller and he was getting way to hot in it.  We tried it out for the first time today going to church and it was so much easier to haul everything in it and Finn really was comfortable and well supported!  Cadence calls it his carriage and he is the prince riding in it. (hence the title "it's more like a carriage")

I wanted to also share a link with you all.  A lot of people have expressed interest in how they can help us and what we need and as a response our church has set up a website to help organize all of that.  If you are interested check it out.  We have everything pretty secure so you have to sign up and be accepted in order to see the needs.  All of this is pretty new in the works and I am beyond overwhelmed at how our Church has cared for us and for Finn as we have headed down this path.  https://www.lotsahelpinghands.com/c/628853/login/
Finn has had an amazing week, he hasn't felt this well in a long time, it is so good to see him really running around and playing.  I am even a bit hesitant as I type all of that because it seems that it could all slip away again so fast, but I am truly enjoying my sweet boy this week and all of his activity.  A huge PT milestone this week was that he climbed the stairs on his own safely!  His orthotics (smo's) really really have been helping to stabilize his ankles so that he can actually run jump and play without falling and spraining his ankles, it is a beautiful sight!
This week my goal is getting all of our paperwork together to see Dr Kendall in Atlanta.  She is a Mito doctor that Finn will be seeing for the first time the day before Thanksgiving .  The stack of "to be filled out" papers alone is massive and in addition we have to obtain all of his records to have them sent to her.  It is a daunting task but I am almost done.  Two years worth of medical history for our sweet boy is more than I imagined.  Prayers that we get some good guidance and direction from Dr Kendall and that we find a good advocate in her.

Now that we have been home a few days things seems to have settled down just a tad!  Finn is feeling great, though he is still vomiting some and not tolerating solid food well, he is tolerating his g tube feeds beautifully.  He has slept so much the past few days enjoying being back in his own bed!  It looks like we will be restarting therapies this week and jumping back on the progress train.  He and Cadence have jumped right in, it was awesome to see them playing together yesterday, side by side.  Prayers that we can continue to keep Finn healthy and that we can find a long term plan for when he gets sick again.
Yesterday 2 families from our community group at church came and helped Andrew cut up a tree (that turned into cutting another one down!!)  and working in the flower beds out front.  It is truly amazing what a few flowers will do to a yard and my soul.  I LOVE working in the flower beds and have these great visions of how our yard should look and these two families loved me in that yesterday. 
We are really blessed to have such an awesome community around us.  I hate needing.  I want to do life by myself without dependence and we are in such a place that I can't and it seems like it is becoming increasingly like that.  I hate asking for things that I know I have been able to do in the past and now there isn't enough time in the day to do them.  Somedays the reality that I am a person of need is huge and God is continually showing me that that is okay.
Tonight there is a prayer service at our church for Finn and other families who are struggling.  I am not sure where I am at being involved.  I long for Finn to be "healed" but not sure exactly what that means for Finn.  The invitation for us to participate in a service like this has opened up a place for me to struggle with what does true healing look like...  more to come!

Tabs up above...

I want to add some semi interactive tabs about so that we can also use this site as and educational place too...as we learn we pass that on to you and there are some things on mito that we want to share with you.  Not sure how else they will evolove but up for some ideas..