Leukodystrophies are a group of disorders affecting the brain’s white matter (or myelin). The word comes from "leuko" (Greek for white) and "dystrophy" meaning "imperfect growth." Therefore, leukodystrophies are characterized by imperfect development of the brain's white matter.


Children with leukodystrophy appear healthy and achieve their milestones but then lose the ability to crawl, walk, swallow, speak, eat, smile, and laugh.  There are more than 50 forms of the disease, and 1 in 7400 live births are affected.

In most cases, once children develop symptoms they cannot be treated since the damage to the brain and central nervous system are irreversible. Newborn screening will be a crucial tool for finding children with leukodystrophy at birth since treatments can only work before the symptoms appear. Revolutionary gene therapies being pioneered by researchers in France and Italy will do more than cure children, they will ensure children never become sick.


Read co-founder Maria Kefalas' essay for Slate titled  "The Cupcake Revolution "



 What is leukodystrophy?


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Read co-founder Maria Kefalas' essay for Slate titled  "The Cupcake Revolution "

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