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October is Rett Syndrome Awareness Month

October is Rett Syndrome Awareness Month

The first thing you notice about Ro Vargo is a smile bright enough to light up a room.  She beams during her aquatic therapy sessions.  Since 1999, Ro has been receiving services from Enable to help support her and her family with maintaining her independence.  Ro has Rett Syndrome.   

October is National Rett Syndrome Awareness month.  Rett Syndrome (RS) is a genetic neurological disorder which occurs almost exclusively in females. After a period of early normal development a regression leads to severe multiple handicaps which include loss of language, purposeful hand use and mobility.  Rett Syndrome appears to be a classic example of a disorder of chromatin, the highly condensed form in which DNA is stored within the cell. Rett Syndrome has genetic similarities to neurological diseases as varied as autism and Alzheimer's disease. 

"We have been blessed in knowing and loving Ro," her mother explains, but adds that they are not without their difficult days.   When Ro was in high school, Mrs. Vargo recognized that they would need supports when Ro graduated as Ro had such a great risk for regression in her skills without creative support.  She looked to Enable to provide these services.  Ro receives aquatic therapy services to help her maintain her current motor skills.  The warm water environment helps to strengthen her muscles, allows her increased time for her physical reactions (such as balance) and gives her body sensory input to know how her muscles are moving.

The history of Rett Syndrome extends a half century from 1954 when Dr. Andreas Rett, noticed repetitive hand-washing movements in his young female patients in Vienna, motions now recognized as a major symptom of RS.  Finally in 1999, researchers at Baylor University discovered the gene on the X chromosome that, when mutated, causes RS. The mutated gene cannot perform its task of regulating other genes responsible for normal development. Lacking this control, the brain fails to develop normally. This situation leads to the classic symptoms of RS that occur in stages over the early years of childhood:

Initially, children with RS show normal development patterns.  During Stage One (6 to 18 months), they begin to demonstrate shyness, aloofness, and a lack of interest in toys.  Stage Two occurs between one to four years of age and results in rapid destruction of skills including: loss of purposeful hand use, initiation of stereotypic hand-wringing movements, breathing irregularities, sleep irregularity, general irritability, disintegrating social skills, loss of language, and slowing of head growth.  The changes that occur in Stage Two can happen over a short period of several months. 

Between two and ten years of age, children move into Stage Three.  This stage can be many years duration.  During this time frame, motor problems worsen and seizures may occur; bouts of uncontrolled crying, irritability, and disruptive behavior subside; autism subsides. Interest in surroundings, alertness, attention span, and communications skills improve.  Some individuals remain in this state permanently. 

Others continue into Stage 4 which generally occurs after the child turns five.  Motor deterioration can continue but there is no further decline in cognition or hand skills; eye gaze may improve but scoliosis occurs and dystonia (increased muscle tone with abnormal position of trunk and extremities) may develop.

Despite the day to day challenges, the Vargo family is optimistic that Ro will move into her own independence at her own speed with the support of her friends, family and Enable.  Her mother commented, "We are grateful" to live in an area such as Syracuse, where there is progressive thinking and where people are always "pushing the envelope for people with disabilities."

For more information about therapy services for people with disabilities, contact Enable at (315) 455-7591(Sara Wall-Bollinger).  Additional information about Rett Syndrome is available through the International Rett Syndrome Association (IRSA) at www.rettsyndrome.org.  Special thanks to Kathy Hunter, President of IRSA, for her contributions to this article. 

Photo: Ro Vargo and her therapist, Jessica Lounsbury work together in Enable's aquatic therapy program pool. 

This item was published on 18-Oct-05

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