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March 2018's Charity

rettsyndrome.org accelerates full spectrum research to cure Rett syndrome and empower families with information, knowledge, and connectivity.

Rett syndrome is a genetic neurological disorder that occurs almost exclusively in females. Rett syndrome becomes apparent after 6-18 months of early normal development. It results in a regression that leads to lifelong impairments. It is often misdiagnosed as autism or cerebral palsy and has no cure. Those inflicted with this disorder have no purposeful hand use due to their repetitive hand movements, hand wringing and mouthing. Speech is lost, seizures develop and scoliosis occurs. Irregular breathing patterns, hyperventilation and breath holding take place. More than half of the girls and women lose their ability to walk. Those diagnosed with Rett syndrome require maximum assistance with even the most basic daily activities. A girl is born every two hours with Rett syndrome.

"Today much of the discovery based research shows that reversal of abnormal Rett biology is possible through both genetic and pharmacologic intervention. But we must also prioritize the development of forward looking habilitation therapies. As we continue to bring these drug treatments into the clinic to correct the biology, we must push equally hard to discover the best methodologies to reset the neurology. These avenues of therapeutic intervention must converge as they are both fundamental to improving the lives of all of the girls and women with Rett syndrome."

- Steven Kaminsky, Ph.D., Rettsyndrome.org Chief Science Officer

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