Saturday, November 15, 2014

We FINALLY have answers

Yes, like the title says...we FINALLY have answers.  The answers we want?  No...but its something!!  Earlier this week we finally found the genetic link to Jacobs mito.

I cant believe I am saying (or typing) those words.  We FINALLY have his puzzle figured out!!  Yes, he has had a mito diagnosis for 2 years.  But its been based on the results from his muscle biopsy.  It could of been many other things from those findings.  But since his clinical presentation matched up with mito, that was the only other explanation.  But now we have a GENETIC link to it!  I cant believe it.

I am having a really hard time with it.  I have no idea why.  I guess I always had hope that maybe it wasnt mito.  And that maybe it was something else that was treatable.  Or maybe I made things out to be worse than they really are and he would get better and we wouldnt be dealing with this anymore.  But those dreams and that hope was shattered.  It was thrown away in one day.  Those dreams and hopes I had went into the garbage can.  Now I have been focused on the what ifs.  Researching his mutation has been tiring.  Its been sad and depressing.  I dont want any of these things to happen to Jacob.  I dont want ANYTHING else to happen to Jacob.  I am done.  I am waving my white flag.  I dont want to do this anymore.  I want my boy back.  My happy boy who loves food, who loves to sit at the computer for hours and play video games, the boy who loved playing with legos, and loved playing tag outside with his brother.  One thing this disease will never take away from Jacob is his happiness.  No matter what is going on he is so happy and loves to smile.  When people are around Jacob acts like he isnt sick at all.  But its once those doors are closed and we are no longer around other people, he gets sick again.  He crashes and lets it all go.  He does not like letting people see him be sick.  He feels like he has to be "normal" for other people.

I am constantly worried about Jacob.  Any time his temp starts to rise, I worry.  Or if he starts to get a stuffy nose, I worry.  I cant relax because when I do, I feel like something is going to happen.  I have nightmares every night of things that will go wrong.  Or jacob getting really sick again and us being back in the ICU.  Knowing that the mito is here to stay isnt helping at all.  It has really made things worse.

Right now Jacob is doing ok.  He is really struggling with keeping his blood pressure stable.  His blood pressure has been REALLY low.  Like when we are in the hospital and his BP goes down this low, they are transfering him to the ICU and giving him BP meds to get it up.  He hasnt been feeling good all day.  He has had a headache for 2 days and has will get little bouts of energy but quickly gets tired and lays back down.  His refulx is so bad right now.  When we give him his meds, they come right back up.  He will reflux on nothing all the time.  We need to up his meds.  He is on 2 different meds to help reflux.  Doesnt seem like its doing its job.  We are out of the hospital so I guess thats good.  His temps have been fine since we have been home from the hospital, the past week.  But today they started spiking back to 99's.  We dont know why and if something is brewing again.  It seems like once his temp goes to 99 that usually means something is about to pop up.  We are praying so hard that he stays out of the hospital during thanksgiving.

I just want to thank everyone again for their love and support.  It means a lot to us even if we dont show it.