Living with Rett Syndrome

A neurological disorder offers lessons for a family—and promise for science

by Dave Debalko

by Dave Debalko

Susan Long ’90 hasn’t missed a sunrise in 12 years. The brilliant set-the-sky-aflame mornings, the hazy streaks of pink, the warm glow behind cloud-filled skies—they are all part of the rhythm of her days with her youngest daughter, Alexandra.

Ali, as her family calls her, wakes at 4 a.m. every day. That’s when Susan disconnects her daughter’s overnight feeding tube. Together they gingerly make their way downstairs as Ali leans on her mom for stability. Susan changes Ali’s diaper, gets her dressed and allows her a little television time. At 13, Ali has outgrown cartoons and now prefers the Disney Channel’s teen lineup, especially shows with cute boys.

After Susan’s husband, Greg, leaves for work, Susan prepares breakfast for Ali and her big sister, 16-year-old Emily. As long as Susan sets out one bit of dry cereal at a time, Ali is able to rake the piece to her mouth and approximate the same business of chewing and swallowing as the rest of her family.

“Then I let her wring her hands while I take a bite,” Susan says, indicating the uncontrollable motion her daughter carries out with her hands.

Hand-wringing. It’s what Susan did for years as she watched her beautiful smiling baby begin a slow, painful regression from a self-sufficient toddler who was learning to ride her tricycle around the house, to a child crying out in pain as she lost the ability to run, play and speak.

Hand-wringing. This motion and other symptoms initially led to years of frustration and endless visits to specialists. “She was misdiagnosed a hundred times,” Susan says. “All I knew is that my sweet child was screaming all the time, and the doctors were saying nothing was wrong.” Doctors labeled Ali autistic when she was 3, but Susan says that diagnosis never felt right, and the accompanying therapies sometimes made Ali’s condition worse.

Hand-wringing. It’s what finally led to an observant mother at a birthday party gently sharing her suspicions with Susan. The mother noted that the repetitive action is a telltale sign of Rett Syndrome (RS), a neurological disorder that occurs in one of every 10,000 to 23,000 girls born worldwide. The wringing of hands and body language of distress manifests as an obsessive-compulsive action in those with the disease.

“In the beginning, I asked, ‘Why?’” Susan says. “Now I’m grateful, and can’t imagine my life any other way. I’ve learned so much from her. She is just pure love.”

A Franklin & Marshall alumna who majored in English, Susan is a freelance paralegal in central New Jersey. She and her family have been on a journey that has taught them many lessons—ones she hopes might resonate with other families who have children with special needs.

Neurology’s Rosetta Stone

Hand-wringing is what originally prompted Viennese physician Andreas Rett in 1954 to connect the dots in several of his young patients with the same traits. He made a film of his patients and traveled through Europe in an effort to identify others and learn more about the condition, publishing his findings in German medical journals in 1966. But it wasn’t until the mid-1980s that knowledge of the condition reached a wider audience with a report in the English-language journal Annals of Neurology. The authors honored Rett’s pioneering research by naming the disease after him.

As awareness of the disease grew, scientists broadened their research into the syndrome. In 1999, Baylor College of Medicine research fellow Ruthie Amir identified mutations of the MECP2 gene in patients with RS. The Baylor team was led by Dr. Huda Y. Zoghbi, whose ongoing work as a physician-scientist exploring genetic and cell biology approaches to neurodegenerative and neurodevelopmental diseases makes her a central figure in RS research. Her research is moving RS from medical outlier to a Rosetta Stone—something that gives a clue to understanding—of neurological diseases.

“Rett Syndrome is characterized by features of almost every neurological and psychiatric disorder,” says Zoghbi, a professor in Baylor’s Department of Pediatrics, investigator at the Howard Hughes Medical Institute, and director of the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital. “The discovery of the causative gene, together with excellent mouse models, are allowing us to discover the brain cells that contribute to specific symptoms. This will have benefits beyond Rett Syndrome, and will enhance our understanding of disorders such as autism, intellectual disabilities and movement disorders.”

“The challenge now is to find ways to treat or reverse some of the symptoms,” Zoghbi says. “Animal models have provided encouraging data that some symptoms can be reversed, but we need to figure out safe therapies to accomplish this.” Experiments using statins to suppress symptoms, and pre-clinical trials testing the potential for gene therapy to reverse the disorder are currently under way, Zoghbi says.

As research progresses, the reality remains that a possible cure could take decades. “Because Rett Syndrome is now considered a Rosetta Stone to unlock other diseases, my hope is that this means more researchers will become interested and a cure will be found sooner,” Susan says.

‘You Get Up and Try Again’

Most girls affected with RS live well into adulthood and continue to require total, round-the-clock care once the symptoms emerge in their first few years of life. Although the severity varies with each child, most lose speech, mobility and use of their hands when they are still pre-school age. Like Ali, many have seizures, orthopedic issues such as scoliosis, and severe digestive problems.

“It’s a difficult time for families,” Susan says. “You have to mourn the child you had and learn to accept the child she is now.”

In the beginning, Susan relied on RettNet, an email community of parents who offered suggestions and support. Now she and her family are helping others, organizing fundraisers such as the “Rock’n for Rett” concert to benefit the International Rett Syndrome Foundation, and offering support for families with newly diagnosed children.

“I want to pay it forward to help others when they have to learn how to change a feeding tube,” she says, adding that she hopes to be a point of contact for members of the F&M community who may be touched by the disease.

For now, she is cautiously optimistic, savoring each small milestone.

“Ali continues to be engaged and stimulated when we read stories or just sit around and talk to her like the 13-year-old she is,” Susan says. “She’s aware of boys, which is a good, age-appropriate thing, and she does like [the singing group] One Direction.”

Ali is learning to use My Tobii, an eye-gaze communication device on a portable computer screen that senses where she is looking. It allows her to navigate from one screen to the next using her eyes, with a voice output indicating the choices she has made. “When Ali learns to use it better, it will give her the ability to let us know her needs, wants, thoughts and feelings,” Susan says.

As for the task of balancing the needs of both of her daughters, Susan admits it is a struggle.

“We try to give Emily as normal a life as possible, but sometimes that’s difficult to navigate gracefully,” she says. “If Emily has field hockey, I put Ali in the wheelchair and strap on her feeding bag and go to the game. For other activities, it means preparing by calling ahead so there are no surprises to prevent us from enjoying things together. On vacation, we could all go parasailing, my husband and I holding Ali between us. She likes speed, the wind in her hair.

“But especially if you have other children, it’s hard to have one foot in the normal world and one foot in the special needs world,” she says. “Sometimes you screw up, but you get up and try again. That’s what Ali teaches me—that if she can get up and do it, so can I.”


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