Josephine is nothing like other children her age, but she is still a full and complete person—the sum of a million tiny details. She loves being tickled and feeling raindrops on her skin. She uses her talker to request the Ghostbusters song, over and over again. Every morning she chooses a sparkly bow or flower for her hair. When her preschool bus pulls up to our door, she always has a smile for her driver.
Life with her isn’t easy, but there are more and more reasons to hope. The root cause for Josephine’s disease is known—alterations in the MECP2 gene. Restoring levels of the gene’s protein has dramatically reversed symptoms in mice. Because of this, multiple genetic therapeutics are in the research pipeline. Most Christmas gifts don’t make sense for Josephine. She cannot manipulate toys, process images on a screen, or play with dolls or stuffed animals. If you would like to do something for her this year, please consider donating in her honor to help researchers find a genetic cure for Rett Syndrome. We are hoping to raise $5,000 to help children like Josephine.
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