Jori and Dan: Autosomal Recessive Centronuclear Myopathy

Feb 6, 2019 | Diagnosis, Stories | 1 comment

Jori and Dan have a very unique son named Luxton.  He is one of three cases in the world that has autosomal recessive centronuclear myopathy type 5. Luxton however is the only one in the world that has two mutated genes.

Autosomal Recessive Centronuclear Myopathy Type 5: The Only One

Something Was Wrong

Luxton’s doctors knew there was something wrong right off the bat.  However, no one really knew what it was. “He couldn’t breathe on his own, they called a code blue.” Jori recalls.  

She continues by saying, “ They had a laundry list of things they thought it could be.  His MRI showed some brain bleeds. They thought he had Gyneschemic brain injuries because he did have a rough delivery so he was restricted in utero.”

“It’s Terminal, Whatever he Has”

At three weeks old his oxygen dropped to the 20’s and Jori and Dan were unable to find a pulse.  They were admitted for three months on and off and the doctors were still not able to find out what was wrong. 

“It’s terminal whatever he has.  So don’t expect him to look at you, don’t expect him to laugh.  He’s never going to play with toys. He’s never going to walk, he;s never going to crawl, he’s never going to sit up, he’s going to be a vegetable.” 

Official Diagnosis at 16 Months

After 16 long months, they received a test called a microarray.  The test showed small deletion on chromosome two. “Well we got the diagnosis and I remember the lady walking in the room.  She was like “so we found something this is a gene it affects but we have no other records of this being found” 

“The other two records that are very similar is both kids are trach vented and doctors said that they don’t have a very good prognosis” I was devastated” Jori mentioned.  

“Just be his Mom”

In the first couple months of Luxton’s life Jori was struggling, she was feeling sad, guilty, jealous and like she couldn’t do it.  Dan put things in perspective for her by saying “Jori stop listening to the doctors, stop looking at everything they are telling you is wrong and just be his mom.”

“I stopped looking at what he’s never going to do and what everyone’s labeling my child as and once I stopped doing that,  was able to pay attention to what he can do… and then I started getting joy out of that.”

He’s Proving Doctors Wrong

“He does things they told us he would never even do..he rolls and now he is lifting his head up off the ground…he does things that other moms don’t get to experience, we just have a very special bond.” said Jori.

Dan loves Luxton’s happy personality, he said, “I love coming home and seeing him dance around me and get excited.  It’s really wonderful having him be part of our family. He just seems to have this determination to never really give up.”

1 Comment

  1. Nadeem

    My son suffering from same condition centronuclear myopathy type5 autosomal recessive. He born 3 months ago.
    How is the little one know

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