Here’s some promising research involving vision. Mice missing the Rett syndrome gene MeCP2 show a gradual decline in vision, and too much inhibitory signaling in the visual cortex, according to researchers. Normalizing the balance of excitatory and inhibitory signals restores the animals’ sight.
This article illustrates how a local television news story provided significant momentum for concert ticket sales that were initially slow:
Apr 15
http://www.bennettfuneralhome.net/index.cfm
She was born November 18, 1984 in Toledo, OH, the loving daughter of Janine Battistone of Rochester, MI and Ray Battistone of Monroe, MI. Dear sister of Lindsey Wiest (Chris) of Grand Forks, ND; Precious grand-daughter of Joan Tremp of Milan, MI, Nat and Stella Battistone of Monroe, and Hugo Schneider of AZ. Laura is also survived by many loving aunts, uncles, cousins, neighbors, and special friends, including Greg Long, Sterling Long, and sister of heart Lydia Long.
She had a pure spirit and taught others that true life success is found in caring for others. She was a friend to all, particularly the myriad of God’s creatures. She gratefully appreciated those who served her needs, including many special nurses, doctors, therapists, couriers, pharmacists, and social workers.
Friends may visit Thursday from 3:00 – 8:00 p.m. at the Monroe location of Bennett-Prochnow Funeral Home. She will lie instate from 9:00 a.m. until Mass of Christian Burial 10:00 a.m. at St. Mary Catholic Church, Father Marc Gawronski, pastor of the church will officiate. Entombment will follow in Roselawn Memorial Park. A memorial service will be held at a later time in Rochester.
Michael J. Astrue, Commissioner of Social Security, announced on October 27, 2008 the national rollout of the agency’s Compassionate Allowances initiative, a way to expedite the processing of disability claims for applicants whose medical conditions are so severe that their conditions obviously meet Social Security’s standards.
“Getting benefits quickly to people with the most severe medical conditions is both the right and the compassionate thing to do,” Commissioner Astrue said. “This initiative will allow us to make decisions on these cases in a matter of days, rather than months or years.”
Social Security is launching this expedited decision process with a total of 50 conditions, including Rett syndrome. Over time, more diseases and conditions will be added. A list of the first 50 impairments — 25 rare diseases and 25 cancers — can be found at www.socialsecurity.gov/compassionateallowances.
Before announcing this initiative, Social Security held public hearings to receive information from experts on rare diseases and cancers. The agency also enlisted the assistance of the National Institutes of Health.
Compassionate Allowances is the second piece of the agency’s two-track, fast-track system for certain disability claims. When combined with the agency’s Quick Disability Determination process, and once fully implemented, this two-track system could result in six to nine percent of disability claims, the cases for as much as a quarter million people, being decided in an average of six to eight days.
"This is an outstanding achievement for the Social Security Administration," said Peter Saltonstall, President of the National Organization for Rare Disorders. "It has taken Social Security less than a year to develop this much-needed program that will benefit those whose claims merit expedited consideration based on the nature of their disease. Disability backlogs cause a hardship for patients and their families. Commissioner Astrue and his staff deserve our thanks for a job well done.”
“Unfortunately, many hardworking people with cancer may not only face intensive treatment to save their lives, but they may also find themselves truly unable to perform their daily work-related activities and as result, may face serious financial concerns, such as the loss of income and the cost of treatment,” said Daniel E. Smith, president of the American Cancer Society Cancer Action Network. “The Social Security Administration’s Compassionate Allowances program will help streamline the disability benefits application process so that benefits are quickly provided to those who need them most.”
“This is America, and it simply is not acceptable for people to wait years for a final decision on a disability claim,” Commissioner Astrue said. “I am committed to a process that is as fair and speedy as possible. The launch of Compassionate Allowances is another step to ensuring Americans with disabilities, especially those with certain cancers and rare diseases, get the benefits they need quickly.”
Source: http://www.ssa.gov/pressoffice/pr/compassionate-allowances-1008-pr.htm
Dr. Adrian Bird, Ph.D., renowned MeCP2 researcher and former chairman of the Rett Syndrome Research Foundation (RSRF) scientific advisory board, is now serving as a trustee for the Rett Syndrome Research Trust (RSRT) organization, according to this biographical page on the Wellcome Trust website.
In 2007 Dr. Bird and RSRT co-founder Monica Coenraads announced on behalf of RSRF the landmark results of a study where symptoms of Rett syndrome were reversed in a genetic mouse model. After the 2007 merger of RSRF with the International Rett Syndrome Association (IRSA) Coenraads left the newly created International Rett Syndrome Foundation to form the Rett Syndrome Research Trust organization.
RSRT has a new website under development at www.RSRT.org, along with a separate site exclusively for Rett syndrome researchers at www.RTTScienceWatch.org.
An unexpected four-day hospital stay with one of our girls reminded us of the need for more awareness of Rett syndrome. Doctors and nurses who were totally unfamiliar with Rett syndrome had difficulty understanding the nuances of our child’s condition. As such, her care was compromised and she had to stay much longer than perhaps was necessary. Medical professionals could not readily grasp her medical needs and how to best care for her. They simply lacked any understanding of what is “normal” for a person with Rett syndrome.
Upon our child’s return home from the hospital, things began to return to “normal” in terms of our day-to-day routines. As things started getting better for us, this well-written article about a young child with Rett syndrome from Pennsylvania caught our attention. Erika Miller is a two year-old girl with Rett syndrome who lives in Normalville, Pennsylvania, a town of about 3,000 people located southeast of Pittsburgh.
Erika’s story is all-too-familiar for those of us caring for a person with Rett syndrome. The article provides a solid perspective on the challenges of pursuing a diagnosis, solicit services and supports, and caring for a person with Rett syndrome. Here are some points from the article that most of us can relate to:
I am not sure if the last point about the dentist having a brochure about Rett syndrome on hand would be considered “normal”. Let’s hope that in time all medical professionals will be so well-informed and well-equipped with information for their patients.
For the most comprehensive look at Rett Syndrome we urge you to consider The Rett Syndrome Handbook, from the International Rett Syndrome Foundation.