INCLUDING RESOURCES ● RESEARCH ● INSPIRATION
Angelman
Today
d i g i ta l ma g a z i ne
Magnesium – The Relaxing Mineral Angelman Research By Ed Weeber Ph.D.
10 Ways to Prepare for Back to School
EDITOR’S LETTER
Summer fun is done and I hope you all had a great time either vacationing or just being home with friends and family, enjoying the warm summer nights. It’s that time of year again. Time to get the kids back to school or begin a new homeschool regimen. This is the time I start to think about goals for my kids in the new school year and have meetings with teachers to ensure we are all on the same page and working together. I also remain thoughtful of a favorite picture that accompanies a wise quote from Albert Einstein, it includes: a monkey, a penguin, an elephant, a fish in a bowl, a seal, and a dog. They are all lined up in front of an instructor behind a desk with the caption “For a fair selection everybody has to take the same exam: please climb that tree.” The goals for my typical son, Braden, will be different than my youngest son, Nathan (AS del +); but for more than just a school education I try to be mindful of their individual talents or gifts when I write their goals. These talents may or may not be included in the curriculum or be able to be measured or scored. But we can tell by the smile it puts on their faces while they are in action or the lengthened attention span they have developed for that particular activity. These are the hints we get as parents to identifying their genius. It is a journey best traveled at their own pace.
Warm Wishes, Lizzie Sordia Editor - in - Chief
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“Everybody is a genius. But if you judge a fish by its ability to climb a tree, it will live its whole life believing that it is stupid” –Albert Einstein
September / October 2014
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19 What’s inside
Back to School Tips…….……..…..………4 Back to School Pics…………………….…5
10 Ways to Prepare for Back to School………………………….….8
Cover: Joshua Hamrick, age 10 from Texas Photo provided by: Yvonne Hamrick
Angels in Action - Taylor………………..10 Magnesium – The Relaxing Mineral…....11 Angels in Action - Joshua, age 10..……20 Poems by Darren Humphries in Memory of Elijah………………………..22
Angelman and Associated Foundations
Aromatherapy and Angels By Shari Caspert…..………………..........11
The Angelman Syndrome Foundation Conference…………......6
The History of Angelman Syndrome (Spanish)…………………………….........26
Angelman Syndrome France….......15 AS Meeting – Paris 2014
Mompreneur Marketplace……………. …28
History of AS……………………….….…..29 Parent Recommended Books..………….31
Foundation for Angelman Syndrome Therapeutics……………18 Associacion Francaise du Syndrome d’Angelman……………..19
Angelman Research By Ed Weeber Ph.D.…....………….…32-33 Classifieds…………………………………34
WWW.ANGELMANTODAY.COM
September / October 2014
PharmaNac 900mg (32 Effervescent Tabs) N.A.C. Brane: BioAdvantex -Certified European GMP grade NAC -Effective way to help boost glutathione levels. Glutathione is your body’s most powerful antioxidant and detoxifiers, is able to help strengthen your immune system and respiratory support.
AllerMates Allergy Wristband – “P. Nutty” Peanuts
Stainless steel ECOlunchbox Three-in-One (Bento Style Lunchbox
PODD with Dynavox Compass
Food allergies are on the rise and they can develop with out warning. It is a good idea to have your child tested every few years. Allergies can range in severity, from a skin reaction to life threatening anaphylaxis. Both skin and blood tests are recommended.
AllerMates Multi Charm Package: Multi Wristband plus six Allergy Charms
AllerMates 12425 Epi and Auvi Case with Wristband and 24 Stickers
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Although tests can be inaccurate there are sign you can check for: -Redness or rash around mouth after meals -Eczema -Constipation -Stomach pain -itchy tongue Precautions can be taken by notifying school staff of food allergy. Provide school with Epi-Pen or other emergency medication for Anaphylaxis reaction.
September / October 2014
It’s that time of year again! It is hard to believe that summer is already winding down, and “Back to School” time is upon us! In order to help you and your child with Angelman Syndrome have the best year possible, I’ve assembled a list of 10 ways to prepare for back to school.
By Jodi M. Duke, Ed.D. Special Education Advocate www.jodidukeadvocacy.com
10 Ways to Prepare for Back to School 1. Create a one-page profile of your child to share with teachers and other school staff. I like to think of what a child would normally tell his or her new teachers during the first days of school and include as much of that information as possible on these profiles. Instead of listing strengths and needs, include what you admire about your child, what’s important to your child, and how best to support him or her. Use clip art to include your child’s favorite things and insert your favorite pictures to personalize this and showcase your child’s personality. You can find more information on the one-page profile at http://www.helensandersonassociates.co.uk/readi ng-room/how/person-centred-thinking/one-pageprofiles.aspx 2. Create a gesture and communication dictionary to share with your child’s teachers and school staff. Many children with AS have developed their own systems of communicating, and it can take some time for new teachers to learn what each gesture and communication effort means. Provide a simple list of your child’s gestures/communication behaviors, including what each behavior means and how the receiver should respond. Make sure to include behaviors specific to mealtime, toileting, and health issues. The folks at Praactical AAC have a fabulous template already created that you can download and fill in for your child! http://praacticalaac.org/strategy/strategy-of-themonth-back-to-school-with-aac/ WWW.ANGELMANTODAY.COM
3. Don’t forget the bus drivers and school nurse! There are some items that you will want to share with these folks in addition to the other resources that you have created. Nurses will need to know about your child’s medications, special diets, seizure issues, and any other medical considerations that might come up during the school day. Make sure to talk to the nurse about the best ways to calm or soothe your child if they aren’t feeling well, how your child prefers to take medication, and any routines that might help when health issues arise. Talk with bus drivers about how to use your child’s AAC on the bus to engage them in conversation during the ride. There is nothing worse than a long bus ride with nobody talking to you or interacting, so work with the bus driver, bus assistant, and school team to develop a plan for social engagement on the bus. 4. Establish a communication plan with your child’s teacher. One of the easiest ways to ensure daily communication is the oldfashioned black and white composition book, which goes in your child’s backpack each day. You write about what happens at home and the teachers write about what happens in school. One of my clients was lucky enough to work with a teacher who sent a daily email listing what the children did each day and included a link to a Shutterfly account where she posted pictures! (continued on next page) September / October 2014
Join Us In Chicago For
Four Days Of Hope.
Save the dates! Hope Inspired isn’t just the theme of the 2015 ASF Biennial Conference—it’s a way of life for all families touched by Angelman syndrome. Join us for Hope Inspired by research, knowledge, community, awareness and support. The conference brings families together to share experiences, build camaraderie and learn the latest information about AS from the world’s leading researchers, healthcare professionals, educators and resource professionals.
July 15 – 18, 2015 Chicago, Illinois
www.Angelman.org
(800) 432-6435
At the Conference we’ll share news of the most recent research and clinical trials, therapeutics, life with AS, developmental techniques, day-to-day best practices and beneficial resources. You will meet and interact with other families who are learning about and dealing with the same issues and behaviors you face every day, including families who have traveled this road before you and can share their experiences and advice. You will go home with new ideas, knowledge, enthusiasm, and friends to support you and your loved one with AS on your journey.
Int’l (630) 978-4245
info@angelman.org
there’s no place like chicago in the sUmmer!
Chicago is full of fun family attractions you can visit during your stay. While attending Hope Inspired, find time for your family to enjoy all that this destination has to offer.
• Brookfield Zoo • Great America • Woodfield Mall • Concerts at Midwest Amphitheater • Fashion Outlets of Chicago • Key Lime Cove indoor water park and family resort • Chicago Children’s Museum • Art Institute of Chicago • Explore and Much More children’s play space • Kid City children’s play space
• Wrigley Field historic ballpark • Museum of Science and Industry • Michigan Avenue city thoroughfare with Magnificent Mile • 360 Chicago observation deck • Buckingham Fountain landmark fountain • Garfield Park Conservatory • Lincoln Park Zoo
Save the dates and join hundreds of families sharing the same journey as you for the 2015 ASF Biennial Conference
www.Angelman.org
(800) 432-6435
Int’l (630) 978-4245
info@angelman.org
Whether you opt for low or high tech, the important thing is that you have an established way to communicate on a daily basis. 5. Start preparing now! Gradually move bedtimes and wakeup times earlier so that the morning routine will be in place by the time school starts (this is as much for the parents as it is for your children). Take your child to the school playground for a picnic and playtime. Invite other children from your child’s class, if you know them. Take your child shopping for school supplies…and let them have that zany leopard print notebook that they choose! 6. Create a transition book that will remind your child of what to expect at school. This is especially important for children that are starting a new school, but can also help ease anxiety and remind children of the routines. I like to create these in PowerPoint, and then have a peer record the narration, so that students can view them on a laptop, iPad, or other device or print them out in a more traditional book format. I have also created a few of these in the app Kid in Story that allows you to include the child’s picture in the story and easily create voice recording. Regardless of the format, you want to include photos of the child’s school, including classroom, gym, specials, cafeteria, playground, and any other areas that will be visited daily.
are going. This is another wonderful opportunity to take a look at the IEP goals, accommodations, and other supports that are in place and decide if any changes need to be made. 9. Become a part of the school community. Check out the school’s website for information on volunteering, joining the PTA, and any school events that are coming up. Most schools organize some type of family activity in the fall, and it is a great way to meet other parents and begin to feel like you belong. I always recommend that parents ask about volunteering as well, if time permits. It is a wonderful way to get to know faculty and staff and see how your child is doing during the school day! 10. Do your best to relax and enjoy the remaining days of summer! Our children can sense when we are stressed or anxious, so one of the best ways to ease their transition back to school is to try to control our own emotions. So sit back, try to relax, and take a deep breath…it’s going to be a great year!
7. Introduce yourself to all service providers and encourage them to contact you as needed. A small plate of treats with a little note goes a long way towards establishing a positive relationship! 8. Request an IEP meeting in mid-October to review progress. Did you know that you can request an IEP meeting anytime? I like to give schools about 6 weeks to get to know a student and then have a meeting to discuss how things
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September / October 2014
Angels in Action Celebrating the Abilities of our Angels Pictures provided by Julie Rice, Mom to Taylor, age 3, del +
ASK DR. THIBERT Does your Angel have seizures? Are you interested in starting the LGIT, but have questions? Here is your chance to get those questions answered. In the next edition of Angelman Today, Dr. Thibert will answer your questions about the Low Glycemic Index Treatment. There are a few ways you can participate; Email your question to contact@angelmantoday.com Write on our Facebook page or Tag @angelmantoday on Twitter #AskdrT
Magnesium - A Simple Solution For Many Symptoms Magnesium is one of the most important and vastly underestimated minerals. It is crucially important for optimum health and supporting some of the following functions: -Activating muscles and nerves -A precursor for neurotransmitters like serotonin -Activating ATP, which supports the body’s energy and mitochondrial function. -Proper formation of teeth and bones Many people may be deficient and not even know it. Some symptoms of deficiency are: -Muscle contractions and cramps or twitches -Numbness and tingling -Personality changes -Abnormal heart rhythms -Insomnia -Irritability -Constipation -Headaches -Reflux -Seizures The Calcium and Magnesium Balance is Vital Calcium and magnesium must be in balance with each other. Adequate levels of magnesium are essential for the absorption and metabolism of calcium. One consideration for gauging magnesium levels is by testing, however testing serum magnesium levels is the least accurate way to detect total body magnesium levels.
Another simple and effective way to get magnesium into the body is by taking an Epsom salt bath. It is part of many family’s nightly routine. It calms the brain and the body. Here is what one of our fellow Angelman families had to say: “We use it at bath time to help calm down and get ready for bed, but we use it also for bad days when Toby (4 del+) is stiff. On the back of the bag there is a "recipe" for Epsom salt lotion that you use topically we use this for his belly cramps and constipation” – Erin Condon Bates When a 6 lb bag is around $5 at your local pharmacy, it is a great solution all around.
What you can do about it Add Magnesium rich foods to your diet including: Nuts- Almonds, Cashews, Brazil nuts, Walnuts, Pecans, Pumpkin Seeds Veggies- Collard Greens, Parsley, Dandelion Greens, Raw Spinach, Kale Dates, Figs, Shrimp, Avocado, Beans, Garlic, Bananas. WWW.ANGELMANTODAY.COM
September / October 2014
Take advantage of these FREE ASF resources at your fingertips! The Angelman Syndrome Foundation is here to help families during every step of their journey with AS, offering guidance, resources and support for day-to-day challenges and experiences with AS.
angelman syndrome foundation
FAMILY RESOURCE TEAM
Introducing the ASF Family Resource Team To assist the growing number of families needing support, we assembled the ASF Family Resource Team, a group of experts in their respective fields that are helping families handle a variety of needs. Each member of the ASF Family Resource Team has a family member with AS, so each is personally familiar with AS and has experience in overcoming challenges faced by families and individuals with AS and in improving the quality of life for all involved. Click here to read more about the ASF Family Resource Team members’ families and areas of expertise, and to connect with them today!
angelman syndrome foundation
IEP Issues, IEP Bank, Educational Issues, Advocacy
Lizzie Sordia General Resources (Supplies, Durable Medical Goods, Products, Helpful Daily Living Products and Services)
Dr. Eric Wright Resources and Services specific to State Waivers, Government Assistance, Insurance, and Advocacy on behalf of Individuals with AS
EDUCATIONAL WEBINARS
Have you attended the ASF Educational Webinars yet?
Click here to view past ASF Educational Webinars on the ASF’s YouTube Channel.
More than 2,500 have participated in the ASF Educational Webinar Series, which helps families and caregivers stay upto-date with a wide range of important topics related to AS, including research updates, clinical developments, tips for everyday living and managing symptoms, and many more. Attendees have the ability to ask questions and interact with the speakers, who are experts in their respective field.
www.Angelman.org
ASF Family Resource Team Members Michelle Harvey
(800) 432-6435
Mark Your Calendars! Thursday, August 28, 3:30pm CST. Dr. Eric Wright discusses government benefits. Tuesday, September 9, 2:00pm CST. Dr. Ron Thibert and Anna Larson discuss AS in adulthood.
Int’l (630) 978-4245
info@angelman.org
angelman syndrome foundation
BEHAVIORS INFORMATIONAL SERIES
Angelman Syndrome Behaviors Informational Series The Angelman Syndrome Behaviors Informational Series helps you and everyone who cares for and works with your loved one with AS better understand the complex and challenging behaviors often associated with AS. A variety of social,
angelman syndrome foundation
INDIVIDUAL EDUCATION PLAN BANK (IEP BANK)
Don’t forget the ASF IEP Bank as you embark on this school year! Are you often stuck when it comes to solid, appropriate and challenging goals for your child’s Individual Education Plan (IEP)? The ASF IEP Bank is an interactive tool to help you and your educational team develop appropriate goals
angelman syndrome foundation
psychological, environmental, medical, and communication factors affect behavior. By better understanding how these factors affect each individual with AS, families and caregivers are better prepared to create an action plan to help modify challenging or aggressive behavior. Click here to access one of the five available modules.
for your child. You can search by category (academic, behavioral, physical, etc.), implementer (parent, teacher, speech language pathologist) or a particular keyword. Find goals others have used, and change or customize them for your child. Click here for more about the ASF IEP Bank.
FUNDED RESEARCH ASF Commits $1 Million for AS Research On the heels of the ASF National Walk, which to date has raised nearly $1.2 million to fund AS research and family support services, the ASF announced the 2014 call for research proposals, committing $1 million in support of AS research for the fourth consecutive time. Highest priority will be given to projects that bring us closer to clinical trial for treatments of AS. It is an exciting time for AS research!
Four Days Filled With Hope – 2015 ASF Biennial Conference The ASF Biennial Conference is the largest gathering of AS families, individuals, researchers, medical experts, and resource professionals of its kind. Save the date for July 15-18, 2015 in Chicago—it will be one of the most fulfilling experiences along your journey with AS! At the Conference you will learn the latest information about: • Research and clinical trials • Therapeutics • Life with AS • Developmental techniques • Day-to-day best practices • Beneficial resources • …and so much more!
your loved one with AS. Be inspired by Research, Knowledge, Community, Awareness and Support at the 2015 ASF Biennial Conference—and inspire others who are sharing the same journey as you.
Network with experienced AS families about the many life issues we face every day. Take with you new ideas, knowledge, enthusiasm and friends to support you and
Thank you Oakland A’s! The Oakland A’s 25th Anniversary of their World Series Championship in 1989 was celebrated in July with several days of events, all of which raised funds to support the AS community. Due to overwhelming support from the Bay Area community, the Oakland A’s donated $40,000 to the ASF! THANK YOU to the Oakland A’s and Dave “Hendu” Henderson, former player for the Oakland A’s who led the A’s to their World Series win and whose son has AS, for helping bring these dollars into the AS community!
Caleb Cardenas had a great time at the Oakland A’s game and loved meeting pitcher Ryan Cook!
Did you know there are several online shopping tools that generate donations to support the AS
community that don’t cost you a dime? iGive, GoodSearch, GoodShop and Amazon Smile all donate a portion of your online purchases to the ASF. Click here to support the AS community by simply doing what you already do!
www.Angelman.org
(800) 432-6435
Int’l (630) 978-4245
info@angelman.org
3rd Angelman Syndrome International Meeting 17 October 2014 – Paris
The international meeting is open to researchers and clinicians involved in neuroscience, gene therapy, neurodevelopmental disorders, particularly in Angelman Syndrome. It is also open to officials of European and international organizations created around Angelman Syndrome. The aim of the international meeting is to encourage researchers to share their experience and knowledge about AS. For this reason, speakers present their scientific projects to one another.
WWW.ANGELMANTODAY.COM
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In 2012 the following four European associations: Nina Foundation (Netherlands), Orsa (Italy), AVO (Austria) and AFSA (France) joined to organize an international meeting bringing together researchers involved into Angelman Syndrome (AS). The first meeting in 2012 in Rotterdam (Netherlands) was a huge success. The 2013 edition took place in Rome (Italy). Paris (France) will host this year, organized by AFSA, on 17 October 2014. It will be followed by the French association’s national conference.
As the Rotterdam and Rome conferences have shown, direct exchanges definitely increase scientific research on Angelman Syndrome, which is supported only by associations, foundations or fundraising. Every two years, AFSA organizes its traditional two-day national meeting. This is a special opportunity for all French families affected by Angelman Syndrome to meet and share their experiences and improve their knowledge. Newly diagnosed families, seeking answers and comfort, are particularly welcome. Medical and paramedical professionals (physicians, geneticists, psychomotors, physiotherapists, researchers, etc.) take part in the national meeting and share with parents all the progress and improvements that they are aware of. This year, AFSA is proud to combine these two major events: the international meeting will be followed by the French national meeting (18 and 19 October 2014). More information can be found on www.angelman-afsa.org AFSA’s fundraising page for the international meeting : http://www.alvarum.com/colloqueangelman2014
September / October 2014
The Foundation for Angelman Syndrome Therapeutics is excited to announce the 2014 Global Summit on Angelman Syndrome This two-day event includes a science seminar on Friday, December 5, 2014, an educational seminar Saturday afternoon, December 6, 2014 and a starstudded, fundraising Gala on Saturday evening, December 6, 2014. The event takes place at the Chicago Hyatt Regency located at 151 East Upper Wacker Drive, Chicago, Illinois, 60601. Admittance to the Science and Educational Seminars is complimentary. Tickets to the Gala are $150.00 per person. The 2014 FAST Gala is a formal, twenty-one and older event. FAST has secured a discounted room rate of $114.00 per night at the Hyatt Regency; rate is valid until November 14, 2014. To download the Corporate Sponsorship form, click here. To purchase tickets or tables to the event, click here. To purchase Corporate Sponsorship of the event, click here. To book hotel room(s), click here. To download an Auction/Raffle Donation Request form, click here.
Seizure Seminar - Featured Speakers: Dr. Anne Anderson, Associate Professor, Departments of Pediatrics, Neurology and Neurosciences, Baylor College of Medicine and Medical Director, Epilepsy Monitoring Unit, Texas Children's Hospital. Dr. Douglas Nordli Jr., Ann & Robert H. Lurie Children's Hospital of Chicago, Division Head, Epilepsy Center; Attending Physician, Neurology and Epilepsy Center; Lorna S. and James P. Langdon Chair of Pediatric Epilepsy; Fellowship Director for the Epilepsy Program, Northwestern McGaw Medical Center; Professor of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine.
Topics will include: dietary treatment options for epilepsy, cannabidiol (CBD) in the treatment of epilepsy, non-convulsive status epilepticus, best practices for treatment of seizures in Angelman Syndrome.
The full event schedule is as follows:
12:00 Noon - 1:00 PM - Complimentary Lunch Served
Friday, December 5, 2014 10:00 AM to 12:00 Noon
1:00 PM - 5:00 PM - Science Seminar - Featured Speakers:
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September / October 2014
Dr. Edwin Weeber, Professor, Molecular Pharmacology & Physiology, University of South Florida. Chief Scientific Officer, USF Health Byrd Alzheimer's Institute, University of South Florida. Director, Murine Neurobehavioral Testing Facility, University of South Florida. Primary Investigator, FAST Integrative Research Environment (FIRE) Initiative.
Saturday, December 6, 2014 10:00 AM - 11:30AM - Meet the Scientists - Open Q&A on AS Research
Dr. Anne Anderson, Principal Investigator, Gordon and Mary Cain Pediatric Neurology Research Foundation Laboratories, Texas Children's Hospital. Associate Professor, Departments of Pediatrics, Neurology and Neurosciences, Baylor College of Medicine. Co-Investigator, FAST Integrative Research Environment (FIRE) Initiative.
Dr. Caroline Musselwhite, CCC-SLP, Literacy and Assistive Technology Specialist
Dr. David Segal, Associate Director of Genomics, UC Davis Genome Center. Associate Professor, Department of Biochemistry and Molecular Medicine, School of Medicine, M.I.N.D. Institute. Associate Professor, Department of Pharmacology, School of Medicine. Investigator, FAST Integrative Research Environment (FIRE) Initiative. Dr. Scott Dindot, Assistant Professor, Department of Veterinary Pathobiology, Texas A&M University. Investigator, FAST Integrative Research Environment (FIRE) Initiative. Dr. Sarah Black, Postdoctoral Research Associate, Texas A&M University. Topics will include: Drug discovery, Artificial Transcription Factors, novel therapeutics in the treatment of Angelman Syndrome and much, much more. 5:30 PM - 6:30 PM - New Animal Models in Angelman Syndrome - Featured Speakers: Dr. Jorge Piedrahita, Professor of Genomics, North Carolina State University. Director, North Carolina State University Center for Comparative Medicine and Translational Research. Dr. Scott Dindot, Assistant Professor, Department of Veterinary Pathobiology, Texas A&M University. Investigator, FAST Integrative Research Environment (FIRE) Initiative
Dr. David Segal, Associate Director of Genomics, UC Davis Genome Center.
1:00 PM - 4:00 PM - Literacy in Angelman Syndrome Workshop - Featured Speakers: Erin Sheldon, M.Ed. Literacy and Assistive Technology Specialist
Dr. Gretchen Hanser, OT, Literacy and Assistive Technology Specialist Focus: An overview session will demonstrate practices used successfully to develop literacy and communication skills in a range of students with Angelman Syndrome. Follow-up workshops for attendees will then provide hands on Focus: An overview session will demonstrate practices used successfully to develop literacy and communication skills in a range of students with Angelman Syndrome. Follow-up workshops for attendees will then provide hands on instruction in how we can engage our students in a variety of literacy activities and technologies. Attendees should bring iDevices if they have one, but this is not required. 6:00 PM - Midnight - 2014 FAST Gala - Grand Ballroom - Featured Guests: Colin Farrell, critically acclaimed actor and Golden Globe winner. Films include Phone Booth, In Bruges, Crazy Heart, Horrible Bosses, and Saving Mr. Banks. Jai Courtney, critically acclaimed actor. Films include Jack Reacher, A Good Day to Die Hard, Divergent and soon to be released Unbroken. Retta, actress and comedienne best known for her role on NBC's Parks and Recreation. Josh Peck, actor known for his role in Nickelodeon’s Drake & Josh. Films include Ice Age and Red Dawn. Tickets to the 2014 FAST Gala include a cocktail hour from 6:00 PM - 7:00 PM, a formal three-course dinner from 7:00 PM - 8:30 PM, celebrity guest speakers, keynote speaker, silent auction and raffle and entertainment provided by The Shannon Rovers and 7th Heaven Band. **The Science Seminar schedule is subject to changes. FAST will announce any changes made, but please check back here prior to the event****
Angels in Action Celebrating the Abilities of our Angels By Yvonne Hamrick, Mom to Joshua age 10
Joshua is an artist. He LOVES to paint. Our family is so proud of him for pursuing his passions, and we want to share that dream with everyone. Joshua enjoys painting for others, but mostly for himself. He has been an artist all of his life, and he knew it before anyone else did. We are so glad that we gave him that first opportunity to paint! Not only are Joshua's paintings a means of expressing himself, but it's also a great organizing tool for his body. The squishy paint between his fingers, and sometimes his toes, brings him joy! Joshua often struggles to grasp things, but not so much when he's using a paint brush or another of his artisan tools he likes to use.
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September / October 2014
“We treasure the short time we had with Elijah” – Darren Humphries (Father to Elijah)
Elijah Humphries February 2004 – August 2007
As I sit and write, it is a few days after my son Elijah‘s 7th death Anniversary. Elijah was born in 2004 and was diagnosed with Angelman Syndrome (Deletion Positive) in April 2006. Elijah died in August 2007 as a result of brain damage caused by seizures.
Part of his legacy is that I continue to be connected and engaged with the a worldwide family of those whose lives have been impacted by Angelman Syndrome. I stay in communication with these people through a variety of different initiatives and avenues.
It has been a challenge for me and my wife Julie and daughter Francesca to learn to live with the death of someone we loved so much.
One enduring memory of Elijah was time spent with his Lolo (his grandfather on Julie's side) and time we spent at a place not far from Christchurch called Akaroa. I remember the delight that he expressed when sitting on the beach and splashing in the waves. Whenever online I have seen countless pictures of other children on online doing the same thing.
We treasure the short time Elijah was able to share our life together as a family. We are thankful for his impact on our lives and also on the many people all around the world. We rejoice now and celebrate his legacy as he continues to touch and inspire even more people across the face of the planet. Being his Dad I feel like I have picked up his mantle and I am compelled to continue to share Elijah, his life, our journey, and our hope.
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When I saw the picture of Andrew Spence from Scotland on Facebook at the seaside engaging with the surf and the surf with him, it reminded me of Elijah and the sheer delight that I had witnessed first-hand on many occasions. As an artist I felt compelled to put into words, what I saw and knew was happening for him and his relationship with the sea. September / October 2014
At The Edge Of The Surf
A Boy Who’s Drawn To The Sea
I Could Sit Here For Hours By Darren Humphries
Aromatherapy and Angels By Shari Caspert, Mom of 17 year old Matthew Aromatherapy: Back to School Essentials For your Special Needs Child, Teacher, Therapists, Aides & You
It’s September, and it’s time to get organized. Time for our family to get ready to go back to school. IEP’s, backpacks, shoes, clothing, supplies and Essential Oils! As parents of special needs children, we often separate our kids and families as “Special Needs” , however the start of school brings the same issues for everyone in our household. Our emotions, excitement & anxiety are heightened whether we are attending pre-school, elementary school, middle school, high school or college. We are all typical and have the same issues as everyone! There are many ways to use Essential Oils: Topically - Put on vita flex points on your feet, the back of the neck, skull sutures, add to bath water or put right on a specific body part. Diffuse - allows the oils to stay suspended in the air to reduce bacteria & mold. It also freshens the air with naturally, rather than harmful air fresheners. There are many types of Diffusers - Cool air diffusers, Bandana, Clothing Jewelry, USB ready diffuser , even a coffee filter. (Great options for carpool). Ingest - Single oils may be used as dietary supplements and there are many supplements such as probiotics, enzymes, vitamins and more.
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Let your child be an active participant. Let them smell and feel the essential oils before use and let them make a selection. You can take a photo of the product and put it on the iPad, even use their favorite as a reward system. This is great for independence, making choices, and sensory needs. Here are some of our easy to use favorites: Kidscents - Specially designed for younger children, features include: pre-diluted with Coconut oil, roller caps, great names and fun packaging. The Reconnect Kit contains 4 essential oil blends. Reconnect - allows the mind to react positively and reconnect to surroundings. InTouch - calming, grounding, helps body integrate with environment SleepIze - relaxes and calms the body and mind GeneYus - helps with focus and ability to stay on task Ask me how: Shari Caspert scaspert@gmail.com www.youngliving4specialneeds.com www.specialneedsmoms.net September / October 2014
Thank you!
A Big Thanks to all of the contributors that help bring you Angelman Today! Contributors: Ed Weeber Ph.D. Jodi M. Duke, Ed.D. Julie Rice Shari Caspert All of the Angelman and Associated Foundations across the globe
Kathy Parker Yvonne Hamrick Darren Humphries
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Angelman Today is a lifestyle guide to achieving better health for individuals with Angelman Syndrome and their families. It is written with your needs in mind but is not a substitute for consulting with your physician or other health care providers. The publisher and authors are not responsible for any adverse effects or consequences resulting from the use of the suggestions, products or procedures that appear on this website or online magazine. All matters regarding your health should be supervised by a licensed health care physician. Copyright 2013 Angelman Today, LLC. All rights reserved worldwide.
La Historia del Síndrome de Angelman El Dr. Harry Angelman fue un médico Inglés quien identificó lo que hoy en día se llama Síndrome de Angelman. Nació en Birkenhead, Inglaterra. Le fascinaba el idioma y la cultura de Italia.
El fue el primero quien observó trés niños no relacionados quienes demostraban síntomas similares – atrasos severos intelectuales, un modo de andar que era espasmódico y rígido, ausencia del hablar, convulsiones, y una disposición contento. Luego, duranted unas vacaciones en Italia, descubrió una pintura llamada “Un Niño con una Marioneta,” creado por el artista del Renascimiento Giovanni Francesco Caroto, en el museo Castelvecchio en Verona. La pintura le hizo pensar en los niños que eran sus pacientes, y le condujo a publicar un artículo profesional en el año 1965 que describía lo que el llamaba “Niños Marionetas.” En aquel momento la importancia de su artículo no fue reconocido como algo importante.
Dr. Harry Angelman 1915 – 1996
No pasó nada mas hasta Charles A. Williams y Jaime L. Frias del departamento de Pedíatra, Divisíon de Genética, de la Universidad de Florida Colegio de Medicina de Gainesville, Florida, sometieron un artículo a la Revista Americana de Genética Médica explicando estudios de séis pacientes, comparando sus datos con los de informes previos – incluyendo atrasos intelectuales severos, el andar como un “marioneta,” anormalidades cranio-faciales, y espisodios frecuentes de risas. De repente, se notó que eso era mucho más común de lo que anteriormente se creía. Ellos propusieron ponerle el nombre de Síndrome de Angelman, en honor del Dr. Harry Angelman. WWW.ANGELMANTODAY.COM
September / October 2014
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The History of Angelman Syndrome Dr. Harry Angelman was an English physician who identified what is now known as Angelman Syndrome. Dr. Angelman was born in Birkenhead, England. He was an enthusiast for the language and country of Italy. He first observed three children who were unrelated but showed similar symptoms of severe intellectual delay, stiff, jerky gait, lack of speech, seizures, motor disorders and happy demeanors. Then, while vacationing in Italy, he observed an oil painting called… A Boy with a Puppet by the renaissance artist Giovanni Francesco Caroto at the Castelvecchio museum in Verona. Reminded of the children, Dr. Angelman published a paper in 1965 that described what he called “puppet children”. At this time, his paper was not immediately recognized as important.
Dr. Harry Angelman 1915 – 1996
It wasn’t until 1982, when Charles A. Williams and Jaime L. Frias of the department of Pediatrics, Division of Genetics, University of Florida College of Medicine, Gainesville submitted a paper to the American Journal of Medical Genetics reporting studies of six patients and comparing their data to those from previous reports - severe developmental delay, “puppet-like” gait, craniofacial abnormalities, and frequent episodes of laughter that it became clear the syndrome was more common than previously thought. They proposed the name of this disorder be changed to Angelman Syndrome.
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September / October 2014
Le secret de Maël : dessin animé sur la différence The secret of Mael: cartoon about the difference
Click to view The Secret of Mael: Cartoon about the difference http://youtu.be/d2sECQDAZG4
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September / October 2014
Books Recommended by Parents
The Latest Research for Angelman Syndrome By Edwin J. Weeber, Ph.D. BMC Neurosci. 2014 Jun 19;15:76. doi: 10.1186/1471-220215-76. The prospect of molecular therapy for Angelman syndrome and other monogenic neurologic disorders. Bailus BJ, Segal DJ1. Abstract: Angelman syndrome is a monogenic neurologic disorder that affects 1 in 15,000 children, and is characterized by ataxia, intellectual disability, speech impairment, sleep disorders, and seizures. The disorder is caused by loss of central nervous system expression of UBE3A, a gene encoding a ubiquitin ligase. Current treatments focus on the management of symptoms, as there have not been therapies to treat the underlying molecular cause of the disease. However, this outlook is evolving with advances in molecular therapies, including artificial transcription factors - a class of engineered DNA-binding proteins that have the potential to target a specific site in the genome. Results: Here we review the recent progress and prospect of targeted gene expression therapies. Three main issues that must be addressed to advance toward human clinical trials are specificity, toxicity, and delivery.
Conclusions: Artificial transcription factors have the potential to address these concerns on a level that meets and in some cases, exceeds, current small molecule therapies. We examine the
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possibilities of such approaches in the context of Angelman syndrome, as a template for other single-gene, neurologic disorders. Overview: Targeted gene technologies are evolving at an incredibly fast pace. This review addresses the potential of emerging techniques to target specific genes, how this technology works, and the limitations of these systems.
_________________________________ J Neurosci. 2014 Mar 26;34(13):4558-66. doi: 10.1523/JNEUROSCI.184613.2014. Changes in mGlu5 receptor-dependent synaptic plasticity and coupling to homer proteins in the hippocampus of Ube3A hemizygous mice modeling angelman syndrome. Pignatelli M1, Piccinin S, Molinaro G, Di Menna L, Riozzi B, Cannella M, Motolese M, Vetere G, Catania MV, Battaglia G, Nicoletti F, Nisticò R, Bruno V.
September / October 2014
Angelman Research Cont’d Abstract: Angelman syndrome (AS) is caused by the loss of Ube3A, an ubiquitin ligase that commits specific proteins to proteasomal degradation. How this defect causes autism and other pathological phenotypes associated with AS is unknown. Long-term depression (LTD) of excitatory synaptic transmission mediated by type 5 metabotropic glutamate (mGlu5) receptors was enhanced in hippocampal slices of Ube3A(m-/p+) mice, which model AS. No changes were found in NMDA-dependent LTD induced by low-frequency stimulation. mGlu5 receptor-dependent LTD in AS mice was sensitive to the protein synthesis inhibitor anisomycin, and relied on the same signaling pathways as in wild-type mice, e.g., the mitogen-activated protein kinase (MAPK) pathway, the phosphatidylinositol3-kinase (PI3K)/mammalian target of rapamycine pathway, and protein tyrosine phosphatase. Neither the stimulation of MAPK and PI3K nor the increase in Arc (activity-regulated cytoskeleton-associated protein) levels in response to mGlu5 receptor activation were abnormal in hippocampal slices from AS mice compared with wild-type mice. mGlu5 receptor expression and mGlu1/5 receptor-mediated polyphosphoinositide hydrolysis were also unchanged in the hippocampus of AS mice. In contrast, AS mice showed a reduced expression of the short Homer protein isoform Homer 1a, and an increased coupling of mGlu5 receptors to Homer 1b/c proteins in the hippocampus.
Overview: This article exemplifies the fact that we can still learn much about molecular changes in the Angelman brain using an animal model. Here the authors show that another important receptor, the metabotropic glutamate receptor (mGluR), has altered function. These receptors are “modifiers” of the synapse and have been implicated in numerous neuropsychiatric disorders, in particular, schizophrenia. The mGluRs are different from receptors you have already heard about; NMDA and AMPA receptors. NMDA and AMPA receptors are activated by glutamate, but are ion channels, which means they allow sodium and calcium to enter the post synaptic neuron. The mGluRs are signaling receptors that also bind glutamate, but then they can activate other proteins on the inside of the cell. In essence, these are slower acting receptors that support the faster acting AMPA and NMDA receptors (even though all these receptors are activated by the same glutamate signal), so they are considered “modifiers” of synaptic function.
These findings support the link between Homer proteins and monogenic autism, and lay the groundwork for the use of mGlu5 receptor antagonists in AS.
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September / October 2014
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September / October 2014
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