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September
Rett syndrome is a rare genetic neurological disorder that primarily affects girls and can cause difficulties with movement, communication, and development. Although it is a lifelong condition, treatment, support, and research can help improve quality of life for people living with Rett syndrome.
Rett syndrome is a rare genetic neurological disorder that mainly affects girls. It is usually caused by a mutation in the MECP2 gene, which plays an important role in brain development. Children with Rett syndrome often develop normally during the first months of life before beginning to lose skills they previously learned. The disorder is lifelong and can affect movement, communication, coordination, and other body functions.
Common symptoms of Rett syndrome include loss of speech and purposeful hand movements, repetitive hand movements, difficulty walking, seizures, breathing problems, muscle weakness, scoliosis, and problems with eating or sleeping. Many individuals have difficulty communicating because they may lose the ability to speak. However, they can often communicate through facial expressions, eye movements, gestures, or assistive communication technology. The severity of symptoms varies from person to person.
Treatments for Rett Syndrome include physical therapy, speech therapy, and nutritional support. Medicinal treatments are also offered, like Daybue, the first FDA-approved prescription oral medicine specifically for Rett Syndrome, approved for adults and children ages 2 years old and up. SSRI's/antidepressants and anti-epileptic drugs are also used to help manage anxiety and seizures.
Although Rett syndrome is rare, it can have a major impact on families and communities. People with Rett syndrome may require regular medical care, physical and occupational therapy, educational support, and assistance with everyday activities. Schools and communities can help by providing accessible environments, communication tools, and opportunities for people with Rett syndrome to participate in activities with others. Greater awareness can also help prevent people from making incorrect assumptions about someone based on their speech or movements.
There are several ways people can help those affected by Rett syndrome. Learning about the disorder and spreading accurate information can increase awareness and understanding. People can also support organizations and research focused on finding better treatments. Most importantly, communities can promote inclusion by making schools, activities, and public spaces accessible. With greater research, awareness, and support, people with Rett syndrome can have more opportunities to communicate, participate, and live fulfilling lives.
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