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Understanding Rett Syndrome

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Rett syndrome is a developmental disorder caused by a mutation of the gene called MECP2 on the X chromosome. It is often misdiagnosed as autism, cerebral palsy, and other disorders. Rett occurs in approximately one of every 20,000 births, striking primarily females. It can be confirmed with a blood test. The severity of symptoms varies based on the location and type of the mutation on the chromosome.

A baby born with Rett develops normally for the first six to eighteen months. Skill acquisition then slows down or stops completely. The child begins to lose abilities she previously had such as language hand movement, and gait. Seizures and difficulty breathing are common, and growth of the head slows. Her mood may destabilize, causing her to cry much of the time and become withdrawn.

The irritability dissipates over time and the child may resume some skill development, however she will have significant disruptions or delays in learning, speech, gross motor skills, cardiac health, mood, and swallowing.

While there is no cure for Rett there are treatments and therapies that can address its symptoms. Occupational and physical therapy can address both gross and fine motor issues such as the child’s gait. Special education support in school can assist with her learning.

The International Rett Syndrome Foundation was established in 2007as the result of the merging of the International Rett Syndrome Association and the Rett Syndrome Research Fund. The purpose of IRSF is to fund research for a cure and provide support for families affected by the disease. Most states have a Regional Representative to assist people in finding services for their family member affected by Rett. In Connecticut the contact person for IRSF is Ariane McMahan. She can be reached at arianem@optonline.net.

Although there will certainly be challenges along the way, children with Rett can live a happy life.

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