Why is Her Life Expectancy Lower than National Averages?
There is still so much that researchers, doctors, and medical experts do not know or understand about Rett syndrome. Research has pinpointed the MeCP2 gene as a direct cause of the disorder, as well as determining its specific stages. Current research continues into better treatments for symptoms such as anxiety, lack of mobility, and reduced cognitive function. However, little is understood about the causes of a patient’s shorter lifespan.
Since more than 95% of girls diagnosed with RTT are still living, that only leaves 5% of patients whose deaths researchers can study. Only about a quarter of that 5% (approximately 1.25% of all RTT patients) died from sudden and unexplainable means. The remaining 3.75% of RTT patients died due to complications such as infections stemming from lack of mobility, injuries from seizures, or other illnesses unrelated to RTT.
In the few cases available for study, common denominators for sudden, unexplained death include seizures, poor mobility, and difficulty swallowing. How these factors contribute to the death of these patients is still unclear. Even with a clear connection, the data would involve less than 2% of documented RTT cases and would therefore, provide few definitive answers or prognosis information. As research continues, doctors and medical experts hope to better clarify the unknowns in regards to expectations and statistics for Rett syndrome lifespan averages.