|
||||||
|
Here is an article about a unique Roller Derby fundraising event in Michigan to support an effort called “Rollin’ for Rett”. This was organized by Girl Power 2 Cure: Mid-Michigan Derby Girls event will raise money for Rett Syndrome | – MLive.com. We applaud the creativity of this fundraiser, once again proving that any event or activity that has a passionate following can be a springboard for a successful Rett Syndrome fundraising event.
Melior Discovery, Inc. announced that it has entered into collaboration with the Rett Syndrome Research Trust to screen drug-candidates in an in vivo model of Rett Syndrome. Melior Discovery has developed world-class expertise in screening compounds for potential therapeutic activity in animal models. Melior will apply this expertise to the evaluation of large numbers of drug-candidates in a specialized model of Rett Syndrome. “This partnership is further illustration of Melior’s truly unique capabilities and competence in high throughput in vivo pharmacology,” said Andrew Reaume PhD, CEO, Melior Discovery. Read more about this news at this link: As you can see, we are developing an all-new Rett Syndrome web portal aggregating information from our other Rett Syndrome websites, including Rett.tv, RettSyndrome.info, and RettBooks.com. If you have any questions about this site, please send us an email: mail@rett.com Laura Marie Battistone
(November 18, 1984 – April 13, 2009) http://www.bennettfuneralhome.net/index.cfm Laura Marie Battistone, age 24, of Rochester; departed this life suddenly on April 13, 2009 at 1:29 a.m. in Beaumont Hospital, Troy, from complications of Rett Syndrome.
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.
The first comprehensive analysis from the InterRett database of over 1,200 people with Rett syndrome was undertaken by an international collaboration headed by the Telethon Institute for Child Health Research. The results were published in the March 2008 edition of the international journal Neurology. The InterRett database project is funded by the International Rett Syndrome Foundation. Report co-author, Dr Helen Leonard, said the findings have revealed a wide variability in the effects of the syndrome. “This is the first time that we’ve had quality information about a sufficient number of cases to be able to do a rigorous analysis comparing specific genetic mutations with they way the disorder is manifested in affected girls,” Dr Leonard said "While Rett syndrome is caused by a mutation on the MECP2 gene on the X chromosome, variations in the mutation determine the severity of symptoms. Our analysis of eight common mutations that account for two-thirds of cases, showed considerable variation in abilities” Dr Leonard said the information would be of great value to families, clinicians and carers. "Many parents have found the lack of information about their daughter’s prognosis very distressing and will welcome a clearer indication of what they might expect in the future,” Dr Leonard said. "Our findings really emphasized how much variability there is in the syndrome and we hope that information will assist with earlier diagnosis.” Dr Leonard said that girls with the milder form of Rett syndrome may retain some language, hand function and the ability to walk. In contrast, those with the severe form don’t show the usual pattern of regression but are affected from birth. InterRett is managed by: The Australian Rett Syndrome Study Telethon Institute for Child Health Research PO Box 855 WEST PERTH 6872 AUSTRALIA Tel: +61 (8) 9489 779 Fax: +61 (8) 9489 7700 Mobile: +61 419 956 946 Email: rett@ichr.uwa.edu.au Source: Press Release from Telethon Institute for Child Health Research, 11 March 2008 In a front page story, The Irish Times reported on February 2, 2008 that the State has reversed its position and agreed to pay for a spinal operation in London for a 12-year-old Cork girl with Rett Syndrome who has been on a waiting list for surgery at a Dublin hospital for 10 months. In an earlier post on the subject, we reported that an inspired anonymous Irish donor had agreed to fund the surgery after hearing the plight of the girl. The press reports on this story apparently spawned much debate on the subject. The government health services agency was reported to have said “the rules of the Treatment Abroad Scheme had been changed by the Department of Health”. This abrupt change came as a wonderful surprise. Bernadette Kelleher, the girl’s mother, described the development as "unbelievable", given all the family had been put through. According to the Irish Times article, the businessman who offered to pay for the operation indicated that “if the Kellehers did not eventually need the money, he would make it available for another cause”. This is a wonderful Rett syndrome story that goes well beyond helping just one person. It shows that raising awareness of one girl’s plight can make a profoundly positive impact on others seeking similar medical treatments abroad. We extend our kudos to all involved in making this happen. Virginia Families and Richmond, VA Resident/Chairman of the International Rett Syndrome Foundation Host Fundraiser Featuring Singer/Songwriter Kevin Black Promising Research Inspires Increased Efforts; American Idol Contestant Sparks Rett Syndrome Awareness RICHMOND, VA (January 25, 2008) – Recent breakthroughs in Rett syndrome research with potential implications for reversing other neurological disorders are inspiring Richmond’s first-ever International Rett Syndrome Foundation (IRSF) benefit. Also inspiring these efforts are the more than 200,000 women and children worldwide affected by this condition, such as 6-year-old Richmonder Anna Cate Rabke, who visited doctors and therapists all over the country when her language skills never developed to more than 10 words. “After Anna Cate temporarily lost the ability to walk, a genetic test revealed one of our worst nightmares: she had Rett syndrome,” said Anna Cate’s mom, Emilie. “Every day we pray that her regression will not advance.” “Rett syndrome (RTT) is a genetic neurological disorder that occurs almost exclusively in girls,” Kathryn Schanen Kissam, Richmond, VA, resident and chairman of the board for IRSF commented. “Rett syndrome becomes apparent after six–18 months of early normal development. It results in a regression that leads to lifelong disabilities including loss of speech, purposeful hand use and mobility. It is often misdiagnosed as autism or cerebral palsy.” Awareness of Rett syndrome recently increased significantly when 26-year-old Chicago native Angela Martin, the mother of a girl with RTT, won her way on American Idol to the round in Hollywood, CA. “It’s not about fame for me, it’s about getting her the best care, the best therapists,” Martin told the camera during an American Idol show, according to a press release issued by IRSF. “The doctors told me my daughter was never going to walk or talk. I’m going to get that for her.” On February 29th, 2008, the International Rett Syndrome Foundation and several Richmond families with daughters who have Rett syndrome are hosting a Southwest Fest, “Spending Time, Ending Rett Benefit,” at the Virginia Historical Society in Richmond, VA. The benefit features a live auction and a performance by singer and songwriter Kevin Black, brother to Country Music’s 10-time platinum-selling artist, Clint Black. Kevin Black will perform to celebrate the memory of his daughter, Cortney Black, who lost her battle to Rett syndrome. Funds from this event benefit IRSF’s Circle of Angels Research Fund. One-hundred percent of net proceeds are earmarked for research. (Julia Roberts serves as co-chairman of this Research Fund.) According to Kissam, with the discovery of the gene that causes Rett syndrome in 1999 and promising 2007 research that shows the reversibility of RTT symptoms in mice, the pace of innovation in the field of Rett syndrome research and treatment calls for increased efforts. “We now have an unprecedented and historic opportunity to fund crucial new research with the potential to impact millions of lives and advance the MORE understanding of Rett syndrome and many other related disorders. Because Rett syndrome is a classic chromatin disorder, it has become the ‘rosetta stone’ of brain disorders and likely holds the key to unlock treatments and cures for other related disorders including autism, schizophrenia and some forms of mental retardation.” In December 2007, the breakthrough research funded by IRSF which showed the reversibility of Rett syndrome in genetic mouse models was selected as one of the top five most important scientific breakthrough of the year by WIRED magazine. “Increased funding for research could lead to treatments not only for Rett syndrome but for other neurologically based disorders as well,” Kissam added. “We are confident that this infusion of resources will help accelerate the translation of basic research discoveries to clinical applications, with tangible benefits for individuals struggling with Rett syndrome.” “Somewhere in the world, every five hours a child is born with Rett syndrome. RTT affects one in 10,000–15,000 live female births including my daughter, Mary Grace,” said Hamilton Holloway, parent and owner of Bear Creek Coffee in Richmond, a sponsor of the event. “I believe the increased funding for much-needed research may one day help change Mary Grace’s future. It will also surely mean that one day another family we will never know won’t face the trials of Rett syndrome.” The International Rett Syndrome Foundation is the largest and most comprehensive not-for-profit organization for parents, scientists, interested professionals and others concerned with Rett syndrome. The mission of IRSF is to support and encourage medical research to find a cure and treatments for RTT, to increase public awareness, and to provide information and emotional support to families of children with RTT. In 2007, Kissam led the merger of the International Rett Syndrome Association and Rett Syndrome Research Foundation, resulting in the creation of IRSF. She became involved in the late 1990’s in honor of her sister, Carolyn Schanen, MD, PhD, whose work to help discover the gene that causes Rett Syndrome and care of patients with this condition inspired Kathryn to work collaboratively on seeking cures and treatments. To purchase tickets to the “Spending Time, Ending Rett Benefit” or to support IRSF, please call (804)741-3687 or visit www.rettsyndrome.org. Tickets are $150 per couple or $75 per individual and include hors d’oeuvres, cocktails and a southwest dinner. Contact: |
||||||
|
Copyright © 2010 Rett.com - All Rights Reserved Twitter links powered by Tweet This v1.6.1, a WordPress plugin for Twitter. |
||||||
