“Potentially.” “Promising.” “Could.” “Might.” “Possibility.” These are some of my least favorite words. Why? Because they and an assortment of others turn up routinely in practically every press release about some incremental advance in Rett syndrome research. “This study raises the possibility that …” goes one. “The findings…
Mutations in the MECP2 gene — the main cause of Rett syndrome — may disrupt early development by altering how DNA is three-dimensionally organized within chromatin, the complex of DNA and proteins that packages genetic material inside cells, according to a study in China. “This work provides a new…
Discussion
Spring fundraising appeals for Rett syndrome causes have been turning up in the inbox and the Facebook feed, as they do every year at this time. Girl Power 2 Cure, a worthy organization, says there’s still time for us to “give a dollar a day in May.” The…
Discussion
Before our late daughter, Cammy, was diagnosed with Rett syndrome shortly before her second birthday, she was already receiving services through our state’s early intervention program. For 10 months — from 12 months old to 22 months old — her days were filled with appointments for physical therapy,…
Rett syndrome is a rare genetic disorder that mostly affects females. The disease is characterized by normal early development, followed by slowed growth and a loss of motor control. Learn more about the disease here.
Most cases are caused by a mutation in the MECP2 gene. Scientists have identified mutations in CDKL5 and FOXG1 genes in those who have atypical or congenital Rett. Learn more about what causes the disease here.
Rett syndrome is associated with problems in cognitive, sensory, emotional, and motor skills, and across the nervous system that controls involuntary (or autonomic) functions. Learn more about the symptoms of the disease here.
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