About 1 in every 10,000 girls is born with a rare neurodevelopmental disorder known as Rett Syndrome.
Jeffrey Neul, M.D., Ph.D.
Pediatric Neurologist, Vanderbilt University
Jeffrey Neul, M.D., Ph.D., is a pediatric neurologist at Vanderbilt University, an internationally recognized expert on Rett syndrome, and a member of the Clinical Neurological Society of America.
As these children grow, parents notice repetitive hand motions, such as clapping or hand ringing, as well as unusual patterns of walking or not being able to walk. Rett syndrome also causes the loss of spoken language and intentional hand motions like grasping or reaching.
People with Rett syndrome show this regression of skills, but then stabilize and do not generally continue losing skills. Unfortunately, they do not generally regain the skills lost and need help throughout their lives with routine activities, such as feeding and dressing. Families face the need for round-the-clock care for their child. Despite the disease’s impact, children with Rett Syndrome may live into their 50s.
The diagnosis of Rett syndrome can be made for children who lose hand skills and spoken language, and have repetitive hand movements and problems walking. But making this diagnosis can be difficult because it is rare and not many people are aware of the disorder.
The first stage of the disorder starts with mild delays and subtle symptoms that often go unnoticed by parents and pediatricians. Infants and young children who miss early developmental milestones may still be within the normal range, leading pediatricians to take a “wait-and-see” approach. So, while symptoms develop as early as 6 months of age, children with Rett syndrome usually aren’t diagnosed until age 2 or 3.
In the second stage, regression of previously gained hand skills and spoken language occurs. During regression, some affected people may avoid eye contact or physical contact. This can make diagnosis of Rett syndrome more complicated because people may be misdiagnosed as autistic because of these features.
Although Rett syndrome mainly affects girls, there are boys with Rett syndrome, and these boys may have an especially hard time getting diagnosed because many doctors are not aware that boys can have Rett syndrome.
As with other rare diseases, Rett Syndrome may be largely unknown to family physicians or pediatricians. And specialists with the expertise to diagnose Rett Syndrome are scarce. Only 18 clinics in the United States have been recognized as Centers of Excellence in treating the disease.
With a confirmed diagnosis of Rett syndrome, families then face hard questions about how to treat and support their child. Treatments have traditionally taken a symptom-by-symptom approach, but this year the U.S. Food and Drug Administration (FDA) approved the first drug to treat Rett syndrome. Known as trofinetide, the liquid medication is a synthetic variant of a small part of a protein that occurs naturally in the brain and can affect various aspects of how the brain functions.
Physicians and families are excited that a drug for treating Rett syndrome has earned FDA approval, a first in this rare disorder. But they are also wary of how health plans could delay or deny treatment access, and recognize that some of the side effects like diarrhea may impact how well people can tolerate the drug. In addition to this drug, there are additional treatment approaches being tested, such as gene therapy, raising hope that there may be more treatments for Rett syndrome in the future.
Coordinating care for a person with Rett syndrome is a time-intensive responsibility, as a multi-disciplinary team is needed to address various problems. Children with Rett syndrome may see multiple specialists along with a physical therapist, speech-language pathologist, nutritionist, pediatric neurologist, and others. Many more hours will go to supporting the child’s day-to-day needs, including eating, dressing, hygiene, sleep, and movement.
The intense level of care exacts an emotional and financial toll. And as children with Rett syndrome grow into adulthood, their families must determine who will care for the adult child after the parents die, and how.
The value of ongoing research and accessible treatment for Rett syndrome cannot be understated. Neither can the importance of physical activity, socialization, and support groups. Connectedness and empathy can go a long way toward supporting families bearing the unexpected toll of this devastating neurodevelopmental disease.