Rett Syndrome Girls Lose Speech and Hands, But Not Hope

PHOTO: Monica Coenraads of Trumbull, Conn., with her 15-year-old daughter, Chelsea, who has Rett Syndrome.Courtesy Monica Coenraads
Monica Coenraads of Trumbull, Conn., with her 15-year-old daughter, Chelsea, who has Rett Syndrome.

For the first year of life, Chelsea Coenraads was a perfectly normal child, playing peek-a-boo and patta-cake and uttering her first word in the bath – "duck."

But that's the last word the little girl would ever speak. As her first birthday approached, everything Chelsea had learned in her normal development began to unravel.

She dropped the sippy cup she once held adeptly and seemed to have difficulty learning new things. Her language and hearing ability seemed to vanish.

"When I would say, 'Touch your nose,' or 'Where is your ear?' she wasn't getting it," said her mother, Monica Coenraads of Trumbull, Conn. "Even more troubling, she started not looking at me when I called her name … It was frightening."

Chelsea was eventually diagnosed with Rett syndrome, a rare genetic neurological disorder marked by development reversals – loss of acquired language, hand use and in most cases, walking.

The disorder mostly affects girls and is classified as part of the autism spectrum. But one of its symptoms is uniquely different from autism: a strong eye gaze when watching people.

Today, Chelsea is 15 and is confined to a wheelchair and is nourished through a feeding tube. She cannot speak or use her hands, but her parents are convinced their daughter, and others like her, are cognitively alive, just locked in.

Doctors say these children, who have none of the antisocial tendencies associated with autism, may have normal intelligence and crave social interaction.

And now, new research at the Tri-State Rett Syndrome Center at Montefiore Medical Center in New York City reveals that even those with Rett syndrome who cannot speak or gesture with their hands and were considered unable to process information, can do so through visual search and novel eye-gaze technology.

"There was always a feeling among parents that these children understand so much more than they let on," said Coenraads, 49. "They are really trapped … but their eyes are so alive and aware."

"We are starting to get evidence that the parents were right all along," she said. "These kids understand."

One in 10,000 or about 15,000 girls and women in the United States are affected by Rett syndrome, according to the Rett Syndrome Research Trust (RSRT).

"In the world of rare diseases, it's quite common, similar in prevalence to Huntington's chorea and in the ball park of cystic fibrosis," said Monica Coenraads, a co-founder of RSRT in 1999 and now its executive director.

Chef Chris Santos, who played to raise money for the disease on Chopped All-Stars, has a 6-year-old niece with Rett syndrome.

When Chelsea was diagnosed clinically at about 14 months old, doctors had no DNA tests to confirm Rett syndrome. Today, they can identify a mutation on the MECP2 gene on the X chromosome that is responsible for the disease.

"I don't want to scare people, but Rett syndrome doesn't run in families or any particular group of people," said Coenraads. "It's a sporadic disorder and can happen to any couple."

The mutation is passed down from the father in mutated sperm on his X chromosome -- usually to a daughter (XX). It rarely affects boys, and when it does, it is far worse, causing early death. Women with Rett syndrome can live well into their 60s and 70s, although they are severely incapacitated.

"It is the leading genetic cause of impairment in females," said Coenraads. "It's a woman's disease and would be so wonderful and helpful if get more women to rally around this disease."

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."