Rett Syndrome Essay

Monica Coenraads gave birth to a beautiful baby girl, Chelsea, in 1996. By the age of one Monica became worried about Chelsea’s slow development. Most children at that age are learning to walk but Chelsea still wasn’t crawling, pulling herself into a standing position and she wasn’t pulling into a sitting position. After going through physical therapy Chelsea was able to finally crawl and get into a sitting position. She still was unable to walk or even stand without assistance. However, her mom soon noticed she was regressing in other areas. She began losing the use of her hands, she was unable to feed herself, she wasn’t reaching for toys anymore, and her eyes frequently crossed. In 1998, after several misdiagnosis, Chelsea was finally diagnosed with

In 1966 he published his findings which brought the disease to light and led to the proper diagnosis across the world. Research by other physicians took off and in 1987 the number of confirmed Rett cases was 1,250. It wasn’t until 1999 that the MECP2 gene was discovered on the X chromosome by Ruthie Amir (1988).

The National Organization for Rare Disorders (NORD) recognizes Rett Syndrome as having two basic forms: classic Rett Syndrome, and a milder form, atypical Rett Syndrome. Both are caused by various genetic mutations with the most prevalent one being a mutation on the MECP2 gene. Signs and symptoms of the disease can vary among those affected. In classic Rett Syndrome, typically babies will develop normally until about 6 to 18 months. It is at this point that parents and caregivers may notice changes in the how the baby is interacting in his/her environment. They appear to lose interest in play or in interactions with people and may not make eye contact. Normal infant development may be delayed such as crawling, sitting, pulling up, or walking. Rett babies may also become restless and irritable. Physically, baby’s heads may be