Holiday Greetings from Eileen Braun, Executive Director, Angelman Syndrome Foundation

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Holiday Greetings from Eileen Braun, Executive Director, Angelman Syndrome Foundation

Thanksgiving - it seems it is on the path of being “the lost holiday”, scrunched between the more “exciting” holidays of Halloween and Christmas. Indeed, according to the National Retail Foundation President and CEO Matthew Shay, “By the time Halloween rolls around each year it’s safe to say Americans have already spent two months preparing for one of the fastest-growing and most widely-loved holidays of the year.” Once Halloween is over the focus often rapidly changes to holiday gifts and spending and the countdown to the much-anticipated “black Friday” and door-buster sales, some now falling on the Thanksgiving holiday itself.

So why do we celebrate Thanksgiving? Some see it as a time simply to pack up and visit relatives or over-indulge on hefty holiday treats and delights. Quite frankly, Thanksgiving is probably my favorite holiday. It is a quieter time; a time for reflection and gratitude for all of the many, many blessings we so richly receive every day. Our blessings come to us in different ways, but if we are careful to observe and acknowledge them I believe we would all find that each of us is abundantly blessed and has much for which to be thankful.

As I reflect over the past year, we here at Angelman Syndrome Foundation and within the Angelman Community, have experienced many accomplishments—blessings—to celebrate and be thankful for. I’d like to help remind us all of these accomplishments and for our community to collectively reflect upon and celebrate what they mean to each of us as together we travel on this journey with Angelman syndrome.

  • We begin with last Fall, celebrating with the first-ever Joseph E. Wagstaff Post-doctoral Fellowship awarded to Dr. Ian King from the University of North Carolina at Chapel Hill. Dr. King’s research looks at how topoisomerase inhibitors, a class of FDA-approved drugs, unsilence Ube3a and how this unsilencing affects other genes or targets in brain cells. Click here to view the full announcement.
  • In late December 2011, the discovery that topoisomerase inhibitors unsilence or activate the father’s copy of the normally silent gene Ube3a was published in the top-ranked neuroscience journal, Nature. These findings in Angelman syndrome have far-reaching implications not only for Angelman syndrome, but also for autism and other neurodevelopmental disorders. This research is on-going in the labs of Dr.’s Philpot, Zylka and Roth at the University of North Carolina at Chapel Hill and is being funded by the Angelman Syndrome Foundation, the Simon’s Foundation and the NIH. Continued research will help to determine the best possible options for clinical trials in individuals with Angelman syndrome. Click here to view the full announcement.
  • Knowing the many challenges of finding comprehensive quality health care for our loved ones with Angelman syndrome, the ASF, in partnership with the University of North Carolina and the Carolina Institute for Developmental Disabilities, opened the first-ever comprehensive Angelman Syndrome Clinic at UNC-CIDD in Chapel Hill, North Carolina in February 2012. Families no longer need to travel to multiple locations in order to receive the best possible care for their loved ones. Specialists that are most-needed and vital to treat persons with AS are available to families in an environment that is well designed and suited for our loved ones. View more information about the clinic at UNC.
  • One aspect of ASF’s mission is to deliver information and support (resources) to any and all who are affected by Angelman syndrome and who need our help. The ASF website is the most-often visited site for “all-things Angelman”. In March of 2012 we launched a new and improved website designed to be easily accessible, provide diverse information about AS and make available the opportunity to globally share our knowledge and expertise about AS. There is an abundance of electronic resources, an IEP bank to share IEP goals and objectives and to learn from others, as well as the latest technology to keep you up-to-date with the most current news and advances in information, treatments and research available. Click here to visit the IEP bank.
  • For 15 years the ASF has held an annual walk to raise much-needed funding for research, family support, educational and scientific conferences and the day-to-day operations of the organization. On May 19, 2012, the ASF held 30 separate walks across the country, with over 10,000 participants and volunteers. This outstanding event raised over $1,030,000 to support all aspects of the ASF’s mission to improve the lives of individuals with Angelman syndrome and their families. Many, many thanks to you—our fundraisers, donors and participants—for making this the largest and most successful walk ever!
  • ASF’s strategic research agenda, developed in 2008 by a team of world-renowned researchers such as Nobel Prize winner Aaron Ciechanover, has focused on expanding our scientific and clinical reach to other disciplines that will help to further understand and define the role and function of UBE3A in order to find effective treatments that improve the most serious or problematic symptoms of Angelman syndrome, with the ultimate goal to cure Angelman syndrome. Through our annual scientific symposia, which took place this year in June in Rockville, Maryland, researchers and clinicians gathered to discuss AS and other related neurodevelopmental disorders in order to further expand the depth and breadth of knowledge of UBE3A, imprinting and to collectively and collaboratively work to find the answers that will help our loved ones with AS. View a listing of ASF’s funded research.
  • As we grow closer to clinical trials in AS that will turn on or correct UBE3A expression in Angelman syndrome, we felt it was important for the Angelman community to understand what is involved in clinical research and what you, as parents and care providers, should want and need to know before deciding if having your loved one participate in a clinical trial is the right decision. At the 2012 Scientific Symposium the ASF gathered a group of experts, from the FDA, Autism Speaks, the pharmaceutical industry, the ASF Scientific Advisory Committee, and AS basic science and clinical researchers, to discuss the many ethical considerations in rare disease research. If you have not had the opportunity to view these discussions I would encourage you to watch the video recordings of these discussions. Click here to watch, listen and learn!
  • We do have so much to be thankful for over this past year. For those of us whose children and loved ones with AS suffer from seizures the publication of research results conducted by Dr. Ronald Thibert and his team at Massachusetts General Hospital on the Low Glycemic Index Therapy to treat seizures in AS, these research findings will be invaluable. Funded by the ASF, these findings will help families and their physicians better manage seizures and the results, thus far, have had a profound positive impact on the lives of individuals with Angelman syndrome! View the full announcement.
  • We are tremendously grateful for the support the Angelman syndrome community continues to show for the ASF and all of our families. Because of YOU the ASF was successful in becoming one of the top charities in the Chase Community Giving Challenge and will receive $20,000 for ASF-supported research! Thank you all for voting in this campaign, for spreading the word and for helping to support AS research!
  • When it all comes down to it, the most important job we have at ASF is to help you—our individuals with AS and our AS families. We keep our eyes and work moving toward the future for treatments and a cure—but we know that every day you face challenges and struggles that others outside of the AS community may not know about or understand. As a parent or care provider where do you start and where do you turn to make sense of it all? Our full-time Resource Specialist, De’itra Rucker, along with the entire ASF staff, is here to help you. Over the past six months alone, De’itra has answered nearly 400 unique resource and information requests; shared nearly 1,200 resources; assisted nearly 125 newly diagnosed families, and responded to countless phone, email and social media messages and requests for help and information. If you haven’t contacted De’itra for help or assistance or may not be sure of how she can help you and your family directly, I encourage you to read more about the support and resources De’itra and the ASF can provide to you.
  • Social media has forever changed how we communicate with others in many respects. It has certainly made our global communities more accessible and within our reach. We are “a friendly group” and as such we have seen our “social friends” and networks grow substantially, with a growth of 55% in Facebook friends and nearly 115% in Twitter followers. We are, of course, very grateful to talk with you by phone or by email—whichever communication method serves you best! Visit our Facebook and Twitter pages. Beyond social media ASF has dramatically expanded our presence and reach—improved awareness of AS and the ASF—with more traditional media such as newspapers, TV, radio, magazines, etc. Since May 2012 we have reached more than 11 million people in many different markets across the US that were exposed to the ASF’s message about Angelman syndrome!
  • Behavioral challenges and concerns for our loved ones continue to be one of the most sought-after areas for help and resources for our families. As parents we are all too well aware that the behavioral challenges our younger children face do not simply fade on their own as they become adolescents and adults. To help you, your families, educators and other care providers navigate these complex issues the ASF brought together leading AS- and neurodevelopmental behavior experts to address challenging and aggressive behaviors in individuals in AS and in October 2012, in partnership with CASS (Canadian Angelman Syndrome Society) launched the first-of-its-kind interactive video modules on behaviors in Angelman syndrome. Please click here to read more about this informational series and sign up for a new account.
  • October 23, 2012 saw the grand opening of our second comprehensive AS Clinic at Massachusetts General Hospital in Boston. Headed by world-renowned neurologists and epileptologists, Dr. Ronald Thibert and Dr. Elizabeth Thiele, these clinicians have a vast amount of experience and expertise in the day-to-day management of AS, seizures and dietary management, along with a strong emphasis on the unique joys and challenges of caring for adults with AS, autism and other neurodevelopmental disabilities. Read more about this outstanding AS clinic by clicking here.
  • Our thanks and gratitude go out to everyone that has organized, supported and participated in the nearly 20 local, grass-roots fundraising and awareness events over the past year. Together you have helped raised over $41,000 for ASF-supported research and general support for the ASF. We are ever grateful, and always inspired, by your hard work, your determination and creativeness. You bring awareness and hope to all who are touched by Angelman syndrome. Thank you! Read about some of the outstanding work being done throughout the community.

As we look back over the past year we have so much for which to be incredibly grateful and thankful. Much has been happening and advances are being made at an accelerated pace in Angelman syndrome. We have you to thank—our friends, supporters and partners. We look forward to an incredible year to come. Thank You!

May you and your families enjoy a peaceful and truly Happy Thanksgiving!

With Gratitude,

Eileen Braun
Executive Director