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.

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."

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