Follow Sofia's journey & raise awareness for Rett Syndrome. Sofia is non verbal ~ So this is her voice! Welcome! Thanks for stopping by to check out Sofia’s page!
April 13th 2014, we’ll never forget ~ The day we brought our first born into this world, Sofia. I remember looking at her and thinking ~ the things she’ll do, the places she’ll go, the friends that will come and go, and what her passion will one day be. I wasn’t sure I was ready for my child to conquer this crazy chaotic world, like I wanted to carry her in Utero, a place I knew she’d be warm & sa
fe forever. What I didn’t realize was, a short time later I would be able to add to my thoughts - be free of her disability. Sofia grew and flourished, slowly but surely. Sofia’s fine motor skills were advanced, she was always excellent using her hands from an early age - fed herself, held her bottle, picked her toys up, put her hands together, and could control her hand movements. As the months went on, we questioned whether Sofia’s gross motor skills were delayed. She hadn’t progressed to crawl, stand, pull herself up to things or walk. Why wasn’t she meeting these milestones? Between the ages of 15 – 27 months Sofia went through multiple invasive tests before we received her diagnosis. Today: Sofia is not mobile, non verbal, and has lost all her fine motor skills: purposeful hand movements. She’s developed an almost constant hand-to-mouth gesture. Sofia hasn't shown any signs of Epilepsy or Scoliosis thus far. Rett Syndrome, is a unique developmental disorder found on the X Chromosome. A mutation of MEPC2, which begins to show its affects in infancy or early childhood. It's seen almost exclusively in girls, although it can occur rarely in boys. The prevalence rate in various countries is from 1: 10,000 to 1: 23,000 live female births. The MECP2 protein can be found in all cells of the body, but it's most prevalent in the brain. Rett Syndrome causes problems in brain function that are responsible for cognitive, sensory, emotional, motor and autonomic function. These can include, learning, speech, sensory, sensations, mood, movement, breathing, cardiac function, and even chewing, swallowing, and digestion. Rett Syndrome FAQ/More information can be found in the Photo section of this page. Please LIKE this page to stay informed throughout Sofia’s Journey & view local fundraising events that will occur throughout 2017! Awareness Month: October
Color: Purple
~J&C
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