NEUROLOGY
Lauren
Diagnosed at 2,
Rett Syndrome

Therapy, research offer hope for girls with Rett Syndrome

Lauren was a beautiful, healthy 2 year-old, sitting up and beginning to talk, when her mother, Sheri, started to notice something wasn’t quite right. It was nothing dramatic, but she noticed her daughter wasn’t crawling or saying certain words like the books said she should.

Sheri began to take Lauren to one doctor after another, but all told her everything was O.K. Finally one mentioned a possibility Sheri had never even heard of – Rett Syndrome (RS), a neurological disorder that affects one in 20,000 children, almost always girls. Months later, the diagnosis was official, and today, at 5 years old, Lauren does not speak and can walk only with assistance.

Although Lauren’s story may sound unusual, Dr. Daniel Glaze, director of the Blue Bird Circle Rett Center at Texas Children’s Hospital, one of the world’s foremost centers for treatment and study of RS, has heard it hundreds of times.

“Sometimes there are subtle signs something is wrong, but usually these girls develop normally the first year or so,” says Glaze. “However, at 1-1/2 to 2 years old there is a dramatic change, and it is clear that everything is not all right.”

In short order, the girls lose spoken language skills and purposeful use of their hands. They develop repetitive hand movements and gait disturbances, and they may begin to have epileptic seizures and abnormal breathing patterns, including holding their breath while awake. Head and body growth slows, and three to six years after onset of RS the girls show little or poor growth. Some who previously walked stop, and many develop scoliosis, spasticity and features of Parkinson’s disease.

Glaze and project coordinator Judy Barrish, RN, say the girls they see have definite personalities, preferences and possibilities.

“They are capable of doing much more than we can imagine,” Glaze says. “We are constantly amazed and impressed at what they can do. They like being around others and communicate their preferences nonverbally. They show pain and happiness.”

Although there is no cure for RS, therapy can often help. To their patients, who come from all over the world, the Rett Center offers a multidisciplinary approach including therapy – physical, occupational, water, music and communication – as well as an intensive nutritional program. Many enjoy hippotherapy, or horseback riding, and it helps with balance. 

Research, including genetic breakthroughs, holds promise for the future of both treatment and prevention. Since the discovery of the gene that causes RS (see inset), physicians are able to diagnose it earlier and determine if mothers may pass the gene to other daughters. The Rett Center is involved in several research projects focused on seizures, nutrition and therapy. Many girls with RS have osteoporosis, and one important study is researching causes and treatment of this problem.

Lauren, now 5, attends a mainstream school, where the children are kind and protective of her. Sheri gets a lot of support from parents of other Rett children, and she reads everything she can about RS. She finds hope in each new advance and joy in Lauren’s small triumphs.