Rett Syndrome , Vivian McNeeley

Sophia

Hi! My name is Sophia. I am four years old and have a fraternal twin sister, Olivia. I live in Waltham with my Mom, Holly, Dad, Bryan, dog, Otis, and cat, Tiggy. I go to preschool at Northeast Elementary and have lots of friends. I love to ride horses, swim, listen to music, jet ski, and play outside. My sister and I go to swimming lessons, dance, and go ice skating together. She is by my side no matter what, always making sure I am okay. She loves to have dance parties with me, she even loves to help with my g-tube. I also have Rett syndrome.

I do not let my Rett syndrome keep me from doing most things my sister does. I just have to do it a little differently sometimes. I use a computer eye gaze system to tell my mom and dad what I want to do, instead of using words. My gait trainer helps support my body, while I run at the park. Rett syndrome tries to steal many things from me but I do not let it stop me from showing my family and friends how much I love them.

~Holly, Sophia’s Mom

Rett Syndrome

Rett syndrome is a progressive neurodevelopmental disorder that almost exclusively affects females. Only in rare cases are males affected. Infants with Rett Syndrome generally develop normally for about 7 to 18 months after birth. At this point, they lose previously acquired skills such as purposeful hand movements and the ability to communicate. Additional abnormalities occur including impaired control of voluntary movements and the development of distinctive, uncontrolled hand movements such as hand clapping or rubbing. Some children also have too slow of head growth. Affected children often develop autistic-like behaviors, breathing irregularities, feeding and swallowing difficulties, growth retardation, and seizures. Most Rett syndrome cases are caused by identifiable mutations of the MECP2 gene on the X chromosome and can present with a wide range of disability ranging from mild to severe. The course and severity of Rett syndrome are determined by the location, type, and severity of the MECP2 mutation and the process of random X-inactivation. Therefore, two girls of the same age with the same mutation can appear significantly different.

Artist: Vivian McNeeley

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Beyond the Diagnosis

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