Rett Syndrome Girls Lose Speech and Hands, But Not Hope

Dr. Aleksandra Djukic, director of Montefiore's Rett syndrome center, is Chelsea's doctor and believes there is much more than can be done for these girls. Mother and daughter work with Djukic to learn ways to help Chelsea express her needs through flash cards and picture books.

She and her team published a 2010 study in the Annals of Neurology that reveals Rett patients' cognitive abilities have been underestimated.

"For 46 years [since the disorder was first identified], we have been aware of their look at us and the world -- never knowing what they see," she said. "We basically embarked on a journey to unlock what hidden behind their eyes."

They tested girls with high-tech visual devices, then replayed them to see where the gaze was and gathered the data.

"The results were striking," said Djukic. "Compared to typically developing children, they specifically looked at people."

The children in the study were even shown a museum setting with a real person in the middle of sculptures that looked like people.

"They looked at the face – in the eyes," she said. "Healthy children look the same way."

While Djukic admits cognition and intellectual abilities are complex, but these results emphasize the strengths of children with Rett syndrome.

"Silence must not be misunderstood as lack of understanding," she said. "Now we have a better understanding of the burden of isolation of these girls who sit in wheelchairs."

Rather than placing these girls in classrooms with autistic children who avoid eye contact and social situation, girls with Rett syndrome should be placed with other disabled children who like to communicate.

"Our center was born out of optimism," said Djukic. "It takes a village."

Parents also have reason for hope.

One 2007 study showed late-stage Rett syndrome was reversed in animal models. Other research focuses on activating the silent, but healthy, copy of the MECP2 gene to cure the disorder.

"Research funds invested in Rett go beyond just information about Rett," said Chelsea's mother. "They can teach us so much more about other diseases like Parkinson's and autism."

Today Coenraads, a former restaurateur with an MBA, works tirelessly at home raising funds and awareness for her research trust.

"The hardest part is it's Rett's 100 percent of the time," she said. "I am taking care of her and it's professional… I am completely immersed, and frankly, that's the way I want. I am devoted and obsessed, I guess."

At home, Chelsea interacts with her two brothers, who are 12 and 13, in an affectionate way that is "hard to describe," said her mother.

"Chelsea is just kind of naturally the center of our household and we didn't set out to make it that way – it just happened," said Coenraads, breaking a tear. "She is just the strongest and has so much wisdom and patience and we are all kind of in awe of her.

"It's amazing how a child who never really said a word and can't do anything for herself is the glue that keeps our family strong … She really does teach us a lot about ourselves and we learn from her."

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