Reese's story: Young family struggles with baby's rare diagnosis of Xq28 Duplication

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by WHAS11

WHAS11.com

Posted on July 23, 2012 at 5:07 PM

Updated Tuesday, Jul 24 at 10:27 PM

SHELBYVILLE, Ky. (WHAS11) -- Reese McClain Nichols has a diagnosis that no one else has in Louisville or Kentucky.

Only a few children in the world share the same genetic disorder.
   
It's been a frightening experience but Reese's parents have decided teaching others is their best weapon in their fight for Reese.

One year ago Elizabeth and Kyle Nichols welcomed baby Reese McClain into the world.
  
Unlike many couples they didn't know the gender before Reese was born.
 
After her birth there were still mysteries about Reese. Her health was fragile and she wasn't responding to sights or sounds.
 
During one of her hospital stays Reese saw Dr. Vinay Puri and he solved the mystery.
             
Reese was diagnosed with Xq28 Duplication.

It’s a genetic disorder where a little extra information winds up on the X chromosome. The test for the disorder has only been available for six years.

Reese needs extra oxygen to support weak lungs. She's on several types of medication and will soon need surgery to repair a hole in her heart.
 
Through the internet Elizabeth has found one other mother in Alabama dealing with the same disorder.
    
“She has a daughter that's 8-years-old that has 28 Duplication…we just try to support each other,” Elizabeth Nichols said.
    
For now, Reese and her parents are teaching the doctors.
  
And mom and dad are learning from Reese.
  
Reese attends Sproutlings, a day care center that's equipped for medically fragile children.

It's likely that many other children have Xq28 duplication but have never been tested. Elizabeth hopes her family's story will help them.

Click here to see Melissa Swan's raw interview with the director of nursing at Sproutlings.
 

Click here to read Elizabeth Nichols' blog. You can also click here for information about Sproutlings Pediatric Day Care & Preschool.


 

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