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A Rockwood princess faces rare genetic disorder

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By Cindy Simpson

A rare condition creates daily struggles for a Rockwood girl, but she and the grandparents who are raising her do the best they can to live normally.

For Emilie Gregg, 6, this includes going back to kindergarten despite a genetic disorder known as plasminogen deficiency, which causes thick, sometimes wood-like masses to develop in her eyes and in other parts of her body, including her mouth and trachea.  

“I wanted her in school,” Emilie’s grandmother Cindy Gregg said. “Mrs. Evans is wonderful with her. Emilie loves her.”  

“We want her to have a normal life,” Jody Gregg, her grandfather, agreed.

Emilie had to leave her kindergarten class at Ridge View Elementary School last fall when she became so ill and needed to go for daily plasma treatments and had multiple surgeries.

“She’s had 14 surgeries this year,” Jody said.

Those include nine eye surgeries, ear surgeries to remove lesions and the removal of her tonsils and adenoids. Doctors had to scrape the membranes from her pharynx.  

Her vision has been impacted by the membranes, and she wears glasses.
“She has a lot of scar tissue in her left eye,” her grandmother said.

The family has to work hard for her not to be exposed to allergens that can trigger the disorder.

They watch the pollen count daily and she is supposed to wear a mask when outdoors. She’s also supposed to wash her hands, arms and face and change clothes once she comes back inside.

“She’s not a kid that can roll around in the grass or play in the dirt at the park,” Cindy said.

“They actually want us to take all our carpet out and go to wood,” she added. Steps like that are common ways to fight allergens, including dust that is easily trapped in fabric.

Emilie spends most of her time indoors drawing and doing other things she loves.
She spent much of her first four years of life in the hospital because she would develop thick masses in her eyes.

The disorder is so rare that Emilie was treated repeatedly for pink eye to no avail. It wasn’t until she was admitted to East Tennessee Children’s Hospital for a fever that a pediatric ophthalmologist tested her for the disorder. Cindy said the pediatric ophthalmologist, Allyson Schmitt, was fresh out of school and had briefly learned of the disorder during her education.

“She’s had it since birth but it took them from 2005 to 2010 to diagnose it,” Jody said.

“Emilie is the fifth case to ever be diagnosed of the disease,” Cindy said.
Jody thinks that there may be more out there, suffering and living with something they think is something else.

“There is no telling how many people actually have it,” Jody Gregg said.
Doctors have told the family that membranes probably have formed in Emilie’s stomach and are the reason for her petite size.

The disorder also causes her body not to produce plasma, and that is part of the reason her life was in such upheaval last year.

In January 2010, she began getting plasma transfusions daily at the hospital to help her body fight the hardened membranes. However, the treatments were harming her kidneys so infusions are now given sparingly.

“For seven months, she went every day for six to eight hours. We lived there,” her grandfather said.

He said it was disheartening for the young girl.

“She couldn’t understand why it never ended. It was every day, all day everyday,” he said.

Also disheartening is the cost. The family struggles to pay for treatments that include 11 medications and eye drops that are $2,600 a month and are not covered by insurance.

East Tennessee Children’s Hospital at one point bought a two month supply of eye drops for the family. Cindy is looking for help and said she’s starting a bank account in Emilie’s name. She asked people to contact her at cindy_gregg1@yahoo.com or 304-6364 to get deposit slips.

She said the family has spent what little savings they have.

The couple praise East Tennessee Children’s Hospital, especially her pediatric oncologist Dr. Steven Corn.

The delicate child loves one thing in particular: princesses, especially Sleeping Beauty.  

“She has yellow hair and it is kind of long like mine. She has a pink dress,” Emilie said.

The Make-A-Wish Foundation is sending her to Disney World this September.

Meeting and spending time with the Disney princesses is one of the two things she looks forward to the most. The other is swimming with a dolphin.