A wonderfully done, in-depth article about Rett syndrome, research, impact on families, community support and the indomitable spirit of Rett families. Done by Parizad Bilimoria. Thank you for such a wonderful, thoughtful piece.
Boston Rett community shares 15 reasons for hope on 15th anniversary of discovery of causative gene
A couple weeks ago, I attended an annual gathering of superheroes called “Blue Sky Girls Day.” At first glance, these people look ordinary. There wear no special capes or tights, and they summon their strongest powers for things most people take for granted. Like walking, talking, grasping objects, eating, drinking, sleeping—sometimes even breathing.
Yet many of these daily activities present epic battles for individuals with Rett Syndrome, a rare neurodevelopmental disorder that almost exclusively affects females and is caused by sporadic mutations in the X-chromosome gene MeCP2. What these individuals and their families quietly accomplish each day in real life is more impressive than the feats of any movie superhero. This is because one of the hallmarks of Rett is a striking developmental regression—in which children who seem to be developing normally all of…
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