Rett+Syndrome+-+Tionna+W

Rett Syndrome  ** Description: ** Rett Syndrome is a childhood disorder that affects females more exclusively. It disturbs the nervous system that leads to developmental reversals, especially in the areas conveying through feeling (expressive). In the beginning of the infancy, seizures can begin. This syndrome occurs all over the world in 1 of every 10,000 to 23,000 female births.   **Inheritance: ** Rett Syndrome is not inherited. Less than one percent of recorded cases are inherited from one generation to the next. Most cases are spontaneous (mutations occur randomly). Some families of individuals affected by this syndrome, other females family members who have a mutation of MECP2 gene but, do not show clinical symptoms.

 **Symptoms: ** The first symptom is usually loss of muscle tone. Early symptoms other than that may include slowing of development problems, crawling/walking and diminished eye contact. As the syndrome progresses, a child losses purposeful use of their hands and ability to speak. Other symptoms range from mild to horrible. This includes breathing problems, excessive saliva and drooling, seizers, severe language growth problems and many more. All of this appears to happened after a normal six to eighteen months of life. 



 **<span style="color: black; font-family: Times,serif; font-size: 12pt;">Daily Life: ** <span style="color: black; font-family: Times,serif; font-size: 12pt;">Waking up in the morning to troubles breathing, I notice my mom picking out my outfit. I’ve been living for about a year now, my birthday is coming up. My mom has been taking me to the doctors lately to get checked out and they’ve said I might be diagnosed with Apraxia. I don’t have a clue of what that is but it sounds bad. <span style="font-family: Times,serif; font-size: 12pt;"> <span style="color: black; font-family: Arial,sans-serif; font-size: 10pt;">

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<span style="font-family: Times,serif; font-size: 12pt;"> **<span style="color: black; font-family: Times,serif; font-size: 12pt;">Diagnosis: **<span style="color: black; font-family: Arial,sans-serif; font-size: 10pt;"> <span style="color: black; font-family: Times,serif; font-size: 12pt;">Studies have connected many Rett syndrome cases to a defect in the methl-CpG-binding protein 2 (MECP2) genes. This gene is on the X chromosome and females have two X chromosomes, so even when one has this significant defect, the other X chromosome is normal enough for the child to survive.

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<span style="font-family: Times,serif; font-size: 12pt;"> **<span style="color: black; font-family: Times,serif; font-size: 12pt;">Treatment: ** <span style="color: black; font-family: Times,serif; font-size: 12pt;">There is no cure for Rett syndrome but there is treatment. They need assistance with feeding and diapering, patients with scoliosis do weight bearing exercises, <span style="color: black; font-family: Times,serif; font-size: 12pt;"> **<span style="color: black; font-family: Times,serif; font-size: 12pt;">Research: ** grdhghfghfhfghf <span style="color: black; font-family: Times,serif; font-size: 12pt;"> <span style="font-family: arial,helvetica,sans-serif; font-size: 13px; line-height: 19px;">**<span style="color: black; font-family: Times,serif; font-size: 12pt;">Additional Facts/ Mutation: ** <span style="color: black; font-family: Times,serif; font-size: 12pt;">There is more than 200 different mutations found in the MECP2 gene. <span style="color: black; font-family: Arial,sans-serif; font-size: 12pt;"> <span style="color: black; font-family: Arial,sans-serif; font-size: 10pt;">

<span style="color: black; font-family: Times,serif; font-size: 12pt;"> **<span style="color: black; font-family: 'Times New Roman',serif;">﻿ ****<span style="color: black; font-family: Times,serif; font-size: 12pt;">Resources: **<span style="font-family: 'Times New Roman',serif;">  <span style="font-family: 'Times New Roman',serif;">  <span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt; line-height: 115%;">[] <span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt; line-height: 115%;"> <span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt; line-height: 115%;"> <span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt; line-height: 115%;">[] <span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt; line-height: 115%;"> <span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt; line-height: 115%;"> <span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt; line-height: 115%;">[] <span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt; line-height: 115%;"> <span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt; line-height: 115%;"> <span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt; line-height: 115%;">[] <span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt; line-height: 115%;"> <span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt; line-height: 115%;"> <span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt; line-height: 115%;"> <span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt; line-height: 115%;">[] <span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt; line-height: 115%;"> <span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt; line-height: 115%;"> <span style="font-family: 'Times New Roman',serif;"> [|health] <span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt; line-height: 115%;">

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