October is Rett Syndrome Awareness month

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Ashlyn Launius has been living with the effects of Rett Syndrome since the age of 18-months.
By Shari Harris

  October has been deemed Rett Syndrome Awareness month in order to raise awareness regarding the rare neurological disorder.
  Rett Syndrome (also called RTS or cerebroatrophic hyperammonemia) is typically caused by a genetic mutation of the X-chromosome, in one in every 10,000 to 15,000 live births. It is found in all racial and ethnic groups. As a result of only having one X-chromosome, boys have the defect less commonly and when they do, the lack of another X-chromosome prevents any offsetting of the problems caused by the mutation. Boys with the mutation are usually born with severe problems and die shortly thereafter.
  There are four recognized general stages of Rett Syndrome. Stage one occurs typically between 6 and 18 months, after normal development early in life and usually lasts for a period ranging from a few months to more than a year. It includes slow regression in development.
  Stage two is a rapid, destructive stage and is typically between ages one and four. It may last for weeks or months. There is rapid (or sometimes gradual) loss of hand skills and speech, characteristic hand movements develop, head growth slows, breathing problems may begin and at times, autistic-type symptoms are noted. Functional movement is unsteady and initiating movement can be difficult.
  Stage three is the plateau or pseudo-stationary stage. It is typically between ages two and ten and can last for years. Seizures are common, as well as movement problems. But this is also a time when some girls improve, in areas of alertness, engagement with the environment, attention span and communication. This stage is typically the longest stage, with a plateau in regression maintained for most of their lives.
  Stage four is the late motor deterioration stage and can also last for years or decades. It is characterized by scoliosis, muscle weakness, abnormal muscle tone and reduced mobility. If girls are able to walk going into stage four, they may stop walking. There is usually not a loss of intellect, communication, or hand use during this stage.
  Rett Syndrome is usually not inherited. The severity of the disease can vary from case to case and there is no cure. There are treatments for the symptoms. Medications are used to manage breathing problems and seizures. Bracing and/or surgery may be necessary to manage scoliosis. Occupational and physical therapy help develop functional movement and strength. Academic, social, vocational and support services also will vary depending on the severity of the case. The life expectancy is not determined and there are women in their 40s and 50s with the disorder.
  Rettsyndrome.org is a website designed to educate and empower families, to provide connectivity and to advocate, raise awareness and accelerate full spectrum research to find a cure for Rett syndrome. Through advocacy and awareness efforts, the site seeks to help “the scientific and medical community, policymakers, educators, caregivers and the general public” to “more thoroughly know, understand and be motivated to help the research efforts and individuals living with Rett syndrome on a daily basis.”
  Licking is home to one girl with Rett Syndrome. Ashlyn Launius lives with her mother, Sarah. She has not been able to speak since she began losing developmental skills at eighteen months of age. She is aware of activities occurring around her but has problems swallowing and is unable to walk.
  There are and have been, other girls in the surrounding area affected by Rett Syndrome. These girls have frequent health issues and see many different specialists to manage the problems associated with the disorder. They require special care in school and at home.

  There is a Stroll-a-thon in St. Louis every summer to raise funds and awareness for Rett Syndrome. Sarah is interested in having more local events to raise awareness. If you are interested in learning more about Rett Syndrome, or in joining the battle to find a cure, you can turn to the Rettsyndrome.org website or contact Sarah Launius at sarahlaunius1987@gmail.com.



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