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Parents Of 3-Year-Old Girl With Rett Syndrome Raising Awareness Of Rare Disease

(CBS) -- It's a rare disorder with no cure and it strikes without warning, robbing little girls of their ability to walk, talk, eat and even breathe.

In this Original Report, CBS 2's Mai Martinez takes a look at Rett syndrome and one Chicago family's fight to raise awareness.

At first glance, Emma Irizarry looks like an average three-year-old. She's happy and playful, but her precious smile hides a rare disorder called Rett Syndrome, which affects one in every 10-15,000 girls born and is generally fatal to baby boys.

"It clearly is a change in genetic material in the X chromosome which results in girls having severe developmental problems," said Rush Pediatric Neurologist Dr. Peter Heydemann.

Dr. Heydemann says it can strike any girl and there are no warning signs and can't be prevented.

Emma's parents suspected something was wrong when she stopped developing as quickly as her twin brother, but knew nothing about Rett Syndrome until doctors suggested testing Emma for it. The diagnosis came a month after she turned two.

"Everything kind of came crashing down and it took a long while to sort out," said Manny Irizarry, Emma's father.

"It's devastating because of all of the things you know she'll never have...like best friends," said Karen Irizarry, Emma's mother. "We will never hear her say 'I love you.'"

The Irizarrys say they had never heard of Rett syndrome before Emma was diagnosed. In just a year, the disorder has robbed Emma of her ability to use her hands and talk. She now uses a computer that reads her eye movement to communicate. Her parents take some comfort in knowing she can still express herself.

"You know that she's still in there. You can see in her eyes and the way that she reacts to things," Karen said.

"When she looks at you and laughs, that's your joy right there," Manny said.

There is currently no cure for Rett syndrome, but next month Emma will go to Boston to participate in a clinical trial for a drug to treat it.

A fundraiser is being held Thursday night at Moonshine (1824 W. Division St.) to raise money to help cover the family's expenses. For more information on the fundraiser, see the flyer below or click here to view it.

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