introducing Joey!!

Joey is currently 7 years old.  He is so amazing!  He goes through life with a smile on his face and is constantly being funny!! 

Joey was diagnosed

with Mitochondrial disease very early on!  When he was born, Daddy and I knew right away something was going on.  He started having seizures and also would have spells where he couldn't breathe.  They did a nap study and found that his air way was closing over causing him to have O2 levels in the 60's and 70's.  He was taken right away for surgery to remove a piece of the air way so that he could breathe safely. 

Joey went to see
neurology when he was three months old.  They noticed that his muscle mass was not normal at all for his age. He had very little mass and he was very low tone (floppy).  They ordered lots of testing.  We went immediately for blood work that day. On the way home, we got a call from the nurse practitioner who had seen Joey. You could hear in her tone that she was anxious.  She told us to turn around and come back right away. Joey was going to be admitted.    They found in his blood work that he had built up lactic acid and was in lactic acidosis at a very dangerous level.

This phone call was a start of a journey we

 never would have dreamed of or thought of. It felt like a parents worst fear!!  We got back to Riley and we were admitted for a long time.  During this admission they took lots and lots of blood, they did a skin biopsy on Joey's back, they got urine testing to send off, and we had more faces of doctors in our room to talk with us then we knew humanly possible!  So much information and questions that were overwhelming.

Then... The genetics counselor came... she had several bags with her and she had a look of "I'm so sorry I'm coming in this room..." on her face.  What felt like a bomb was dropped on us... She unfolded the reality we didn't want to face.  She told us that Joey has Mitochondrial Myopathy.  Now Mito takes a long time to diagnose, so we had a lot of testing and awful waiting to see if they could pin the type... but they could see right away from many of the tests coming back that it was strong enough in the direction of Mito to let us know this is his "diagnosis". 

 

We were heart broken.  I remember standing there holding his little hand thinking that he was only three months old!  This was all just too much!!  I heard Jeff ask if this is something that could take his life... I couldn't even look at the counselor.  I heard her say "We can't tell you the outcome and life expectancy until we do more testing, but yes, Mitochondrial disease can take his life. It is fatal and at this point, there is no cure."

 

 

I sat there later that day holding him

and tears flooding my eyes... I hurt more than I'd ever hurt in my life... but I had a peace flood me that only could come from God! I knew in my heart of hearts we were going to get through any hurdle together and we were going to be ok no matter what each day brought! 

Today, Joey struggles but he has overcome

many hurdles they earnestly didn't expect him to overcome.  He has much he battles every day, but he is the most amazing 7 year old I know!  He is my super hero!!  This picture is of Joey in a special car seat they have ordered him.  He sleeps a lot.  This car seat is designed to help his low tone.  When he falls asleep, it wasn't unusual for his head to be between his knees in the van.  So this seat was made to hold him up and safe while we are driving. 

Joey has a lot of things on the inside his little body fights! If I may remind you, Mito is a fight at the cellular level.  The depletion of energy in your body from the mitochondria not functioning properly causes lots of issues in many areas all at once.

Joey has a seizure disorder that shows on his EKG he has 3 different kinds.  He deals with frequent migraines because of fatigue and sleep issues.  He has a speech delay because of low tone.  He has some swallowing trouble that is worse after having seizures or having been sick.  He has sleep apnea, hypoventilation (where your body can not get rid of the bad air. In his case, created by the inability to breathe deep enough to inhale and exhale as he should while sleeping.) He deals with severe reflux.  He has asthma and because of his low tone and weakness, they treat him like he has a lung disease to help him be able to play and do things without getting too short of breath.  He has gastroparesis (in short this means his gut does not move/digest as it should.  It moves too slowly causing pain and nausea).  Joey requires a G-tube to keep him hydrated because his body is more sensitive to hydration and also, to supplement calories as he has had trouble growing. He has a lowered immune system that makes it hard for him to fight sickness. He has started experiencing hearing loss. He has many underlying issues due to the low tone and muscle weakness.  Joey also has used a wheel chair for a long time to help with standing and extended walking.  A year ago, Metabolism said that Joey's muscles are not growing with him as they should because of the myopathy (disease of the muscles) so they said that Joey needed to have his wheel chair with him at all times and that he needed to utilize it to help with his energy. Joey gets very fatigued and walking exasperates that fatigue.  Using the wheel chair enables him to have more energy to do the "kid" things he wants to do!

Joey has a huge team of doctors that either are in place to watch vital organs or are already treating the issues they have found through testing.  Those doc are:
Primary Doc
Neurology
Metabolism
Developmental pediatrics
Cardiology
G.I.
Pulmonary
endocrinology
ENT
Opthomolagy
Joey surprises us every day! He truly is a super hero! He faces life with bravery and a smile! He has made our lives so much better and taught us so much!!! 

For Joey, Getting this van would be a miracle for him alone!  Because we have a mini van, his wheel chair (along with Abby and JJ's wheel chairs) have to be taken completely a part and stuffed in the back of the van.  When we go places, everything has to be pulled out so that we can get to his chair.  Then comes the assembling! Getting an accessible van would mean that his chair would either be easy to get too, or they'd be able to make it so his wheel chair becomes his seat in the van.  Then he wouldn't have to wait for t to be put together! Mommy and daddy wouldn't have to be in the weather to pull everything out assemble the chair and reload what we don't need. He is at a place that we absolutely can't work around taking his chair into stores.  Even riding in a cart tires him because the wheel chair is set up to support his body properly.  Please join us in providing this for the kids!  We can't do it alone! We need your help!!!