pathoscribe

Written by Aashna Gupta | Art by MollyAnn Caulfield

Imagine waking up one day and slowly losing the ability to speak, move, or use your hands. For people with Rett syndrome, this is a daily reality. Rett syndrome is a rare neurological disorder that mostly affects girls and is caused by a mutation in the MECP2 gene. This disorder affects brain development and leads to serious problems with movement, speech, and cognition. Although there is no cure, different treatments and therapies can help manage the symptoms and improve the quality of life.

Rett syndrome usually appears between 6 and 18 months of age. At first, babies seem to develop normally, but over time, they lose important skills. Individuals with Rett syndrome may stop talking, have trouble walking, and even develop repetitive hand movements like wringing or clapping. Other symptoms include breathing problems, seizures, and difficulty eating. Because these changes happen gradually, diagnosing Rett syndrome can take time. 

Doctors use genetic tests and symptom checklists to diagnose Rett syndrome. There is no cure, but early treatment can help manage symptoms. Physical therapy improves movement, and speech therapy helps with communication. Some children may need feeding tubes if they struggle to eat. However, medications can also be used to control seizures and breathing problems.

Since Rett syndrome is a lifelong condition, people living with it need continuous support. They often rely on their families, therapists, and medical teams for daily care. Even though they may not be able to speak, many children with Rett syndrome can understand more than they show. Special communication devices can help them express their thoughts. They can learn, enjoy activities, and live fulfilling lives with proper care.

Scientists are working hard to find better treatments and, hopefully, a cure for Rett syndrome. Research has also led to discoveries about how the MECP2 gene affects the brain. Awareness and support for families affected by Rett syndrome continue to grow, and more studies and medical advancements can improve the lives of those with this condition. While there is still a long way to go, each step brings hope for a brighter future. 

Works Cited:

1. “What Causes Rett Syndrome?” Eunice Kennedy Shriver National Institute of Child Health and Human Development, U.S. Department of Health and Human Services, http://www.nichd.nih.gov/health/topics/rett/conditioninfo/causes. Accessed 25 Mar. 2025.
2. “What Is Rett Syndrome?” Cleveland Clinic, 6 Mar. 2025, my.clevelandclinic.org/health/diseases/6089-rett-syndrome. Accessed 25 Mar. 2025.
3. “Advancing the Most Promising Curative Strategies for Rett Syndrome.” Rett Syndrome Research Trust, 12 Feb. 2025, reverserett.org/. Accessed 25 Mar. 2025.