SPECIAL HOLIDAY EDITION
digital magazine
What is a MAPS Dr.? The History Of
Holiday gift guide Celebrate the Holidays with Less Stress
EDITOR’S LETTER The Holiday Season is upon us ‘Tis the season for giving thanks and celebrating with friends and family. Time for office parties, dinner parties and time to takeout- the- good- dishes parties. I will began by thanking everyone who has helped create and support Angelman Today! Thanks to all of the readers that have reached out and expressed your appreciation for having such a wonderful new resource. I know that it is from the bottom of our hearts that we work so hard to help bring the global community together and share our experiences. As parents, we work on Angelman Today in between caring for our Angels - which you know is a task-and-a- half, - and caring for our families and/or working at other jobs. The Professionals of our medical and scientific advisory board generously give of their limited time to write and send in articles, comments and quotes. I am so very grateful for the health of my family especially Nathan, who is doing amazingly well, thanks to our MAPS physicians. I am thankful to every organization and community member that has joined Angelman Today and shares the vision of uniting a global community, sharing resources, information and helping to improve the daily lives of individuals with Angelman Syndrome everywhere! I am truly amazed how quickly things are happening and how Angelman Today is already reaching into more than 40 countries and territories. I wish you all a very happy and healthy holiday season with close friends and family and the friends that ARE family! Warm Wishes, Lizzie Sordia Editor - in - Chief
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Cannabidiol (CBD) clinical trial to begin
Mosaicism in Angelman Syndrome…..6 By Dr. Charles A. Williams The History of Angelman Syndrome…7 Emergency Preparedness………….…9 Words of Wisdom……………………..13
What’s inside
Cover: Nathan Sordia, 5 yrs old, AS
Angelman and Associated Foundations Syndrome Angelman France …...4
Casa Angelman Argentina……….8
What is a MAPS Dr.? Interview with Dr. David Berger……..14
Angelman Syndrome Belgium…12
Christmas Gift Ideas………………….17
THERAsurf………………………16
Little Keeper Sleepers………………..19
The Angelman Syndrome Foundation…………………….…22
LGIT (Low Glycemic Index Treatment) Sweet Treat for the Holiday Season by Sybille Kraft Bellamy……………....21
Angelman Syndrome Association Spain…………….…28
Managing Holiday Stress…………….24 by Eileen Braun
The Angelman Network – New Zealand…………………………..31
A Father’s View – By Peter Kraft……32
Israeli Angelman Syndrome Foundation…………………….…34
Angels in Action – Francoise…….…..38 Clinical Trial for Seizures in Children Using Cannabis……………..39
The Charlie Foundation………...35
FAST…………………………..….40
What does the S.A.F. Association propose: - Enchance the expertise of parents in organizing and facilitating the dissemination of information and sharing experiences. This is why a website magazine has been created and managed ( www.syndromeangelman-france.org ) This site is interactive , collaborative, and has a regular and consistent link with families spread over the five continents. - Be a resource center for families having someone with this disability in society. - Deepen reflection on their own disability of mental handicap and thus contribute to others a view on this difference. - Publicize the Angelman syndrome. - Encourage and help the research by informing and sensibilizing medical, paramedical, social and medicosocial groups on traditional and innovative educational methods adapted to the Angelman syndrome. - Cooperate by exchanges with other regional and national associations, who have the same values and objectives. Two SAF actions: - Inventory of individuals with Angelman syndrome. - Find the results of our investigation on the website: http://www. syndromeangelman-france.org/wpcontent/uploads/Survey-Angelman-Adult-2013-France.pdf
Syndrome Angelman France www.syndromeangelman-france.org www.facebook.com/Syndrome.Angelman.France
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Syndrome Angelman France is an association created nationally for those families and friends of people who have the care of SAF. The administration of SAF is composed of families as well as professionals from the medical, paramedical and medico-social world. The functioning of SAF is totally assured by voluntary workers.
A BOOK TO READ: “Angelman Syndrome - A look on a rare neurogenetic disease”. This book is published by Editions H. prefaced by Professor DAN and written by Anne Castle. Anne is the mother of a young adult Angelman and Vice-president of the Syndrome Angelman France association. Collection Sciences et Société – Editions L’Harmattan BUY TODAY WITH THIS LINK:
A lire : Le SA, Regard sur une maladie neurogénétique rare, un livre publié aux éditions H, préfacé par le Pr DAN et écrit par Anne Château, maman d’un jeune adulte A et Vice-présidente de l’association SAF
Thank You
A Big Thanks to all of the contributors that help bring you Angelman Today! Contributors: Dr. Charles Williams of University of Florida Dr. Elizabeth Thiele of Mass General Dr. David Berger of Wholistic Pediatrics
All of the Angelman and Associated Foundations across the globe
Sybille Kraft Bellamy Peter Kraft Charles De Broin
Eileen Braun Anne Chateau Karray Shwartz Cox
Angelman Today Supporters: Sleep Safe Beds - www.sleepsafebed.com Little Keepers Sleepers – www.littlekeepersleepers.com MediPal – www.medipal.com
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.
By Dr. Charles A. Williams In the last edition, I reviewed the four genetic mechanisms that can disrupt the Angelman syndrome (AS) gene: chromosome deletion, imprinting defect, mutation in UBE3A and paternal uniparental disomy. When an individual with AS has one of these defects, it is typically present in every cell of the body, since the defect existed at the time of conception when the sperm and egg fused to form the first cell of the embryo. All of the subsequent cells are thus derived from this original cell. It is possible in rare situations however for the AS defect to occur after the first cell divisions of the embryo such that there is a normal and an abnormal cell line; the general term for this phenomenon is cell mosaicism. Mosaicism in an individual with AS means that a few cells in their body (and also in their brain) are normal. These normal cells coexist with all of the other cells that have the AS defect. Mosaicism in AS most often occurs in imprinting defects that do not involve deletions of the imprinting center (the great majority of those with imprinting defects are of this non-deletion type). About 10 to 30% of individuals with the non-deletion type may have a small percent of their cells that are normal.
We detect evidence of this by the DNA methylation test that is performed on blood. When the test suggests mosaicism, we presume (but do not really know) that cells in the brain also have a similar percentage of normal cells. In instances of imprinting mosaicism, the percent of normal cells is
usually less than 20%. Individuals with AS who are imprinting-type mosaics can have relatively higher developmental ability. Some have been noted to speak words and even to put words together, more than is seen in the typical child with AS who is non-mosaic. They may also have better motor ability (e.g., almost normal walking) and relatively higher cognitive skills The three other mechanisms that cause AS are much less likely to have mosaicism but a few rare instances have been reported. Chromosome studies (either molecular or FISH-type) may identify a small percent of cells
without the typical 15q11.2-q13 deletion. For example, 80% of the cells in the blood may have the typical AS deletion while 20% of the cells are normal. The same can theoretically occur for those with AS due to uniparental disomy. To my knowledge, mosaicism for UBE3A mutation, identified by blood study in an individual with AS, has not been reported but that is also theoretically possible. In a mother who has an AS child with a UBE3A mutation, mosaicism involving UBE3A has been detected in her in what is termed "germline" mosaicism. Here, the mother's blood cells are normal but apparently in her ovaries there are egg (e.g., germ) cells that have the UBE3A mutation. This situation is presumed to be present, for example, when the mother gives birth to two subsequent children with AS, each having the same UBE3A mutation, but studies of the mother's blood are completely normal. The diagram illustrates this type of germline mosaicism (blue cells are the normal cells) and contrasts it to the other type of mosaicism that is discussed above, termed “constitutional� meaning that cells throughout the body are involved. Understanding mosaicism in AS can be complicated especially when considering the possibility of germline mosaicism in mothers, since this rare condition can lead to recurrence of AS among siblings.
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 .
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.
Dr. Harry Angelman 1915 – 1996
Emergency preparedness for children with specials needs following a therapeutic diet. By Sybille Kraft Bellamy How to Gather Emergency Supplies When Hurricane Sandy hit the East coat in 2012 we lost electric power for 5 days and were under a curfew for a week with limited access to our regular food sources of supply.
I decided I had to learn what it would take for me to be prepared. Here is what I have discovered and would like to share with you:
My son Max celebrated his 11 birthday with candles, a lot of candles! Candles were the main source of light in our kitchen. We have a generator and we used it most of the day to recharge our laptop, phone and fridge and to keep our furnace going.
Our angels are extremely sensitive to stress; a new situation, new environment and a new routine can be challenging. If we had to evacuate for any reason it would be quick, with no warning, and most likely in a panic mode.
We had known for days that our area would be on the storm’s path. We were not particularly concerned by the flooding because we are located on a hill, but we knew we might lose power and we did.
As a result, Max would be exposed to a different environment, to noise and light in a shelter, and to new people. Most likely he would also become sleep deprived and I would not be able to prepare his usual meals and follow his special diet. All theses factors can trigger seizures, as we know.
It made me realize how quickly life can change and disaster can strike. Sandy did not affect us too much. Max was safe in our house and I had enough food stored for him. Still, I became aware of how unprepared I was to cope with the needs of a child like Max if things had been worse. What if we had had to evacuate? Would I have had time to pack everything I needed for him: his rescue medication, his food, his clothes and diapers? In the middle of a crisis, would I have remembered everything I needed to take along?
Most of the time when a hurricane or a snowstorm hits you will receive a warning. But if an unpredictable natural or manmade disaster strikes you will have no time to plan and you will have to leave. Every situation is different and each child may have different and very specific needs but here is a list of basic things you will need and a list of websites where you can get information to help you be better prepared.
Disaster Supplies Kit A disaster supplies kit is a collection of basic items that could be needed in the event of a disaster. For our children with special needs we need very specific things. It is recommended to have the following: • Medical alert tags or bracelets that identify the medical condition, i.e. name of the syndrome, epilepsy, allergies, glucose dextrose intolerance… • A two-week medication supply ready for an eventual evacuation. A prescription with the patient’s name and his regular medication is also recommended. • A portable bottle if your child is on O2. • Copy of personal documents (list of medication list and any pertinent information) • Your child special cup/bottle. • Water; one gallon per day. 3-day supply, 2-week supply for home. • Non-perishable food. 3-day supply for evacuation, 2-week supply for home. • Cans of coconut milk/unsweetened condensed milk/whipping cream • Peanut butter/nuts butter/coconut oil • Individual electrolytes bags/baby formula/ketocal • Cans of tuna/ sardines/lentils/beans • Emergency sleeping bags • Emergency blanket • Can opener /fork/spoon/multipurpose tool • Flash light • Diaper/wipes/Clorox wipes • Extra clothes • Charger for iPods/iPhone For more information, please visit: CDC Emergency Risk Communication Branch (ERCB) Division of Emergency Operations (DEO) Office of Public Heath Preparedness and Response (OPHPR) The American Red Cross .Get a survival kit “ Are you ready? An in-depth guide to citizen preparedness.(Publication No.IS-22) (2004 August) Basic preparation pages 13-46 FEMA Are you ready? Recovering from Disaster.
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A N G E L M A N S Y N D RO M E B E LG I U M Parents Organisation History Angelman Syndrome Belgium is an association which was founded in 2011 by some parents who have a child with the Angelman Syndrome.
Aims Our main goal is to reach the Belgium families that have a child with the Angelman Syndrome so we can share practical information, support each other and share as well up to date scientific information.
Activities Yearly, we organize a couple of events, during which we aim to provide a nice relaxing day for the families. Also brothers, sisters and grandparents of the Angelman child are very welcome to join on these days. Our organization tries as well to raise awareness of the angelman syndrome to physicians and caregivers. Also scientific research is supported by our association.
FOLLOW US ON https://twitter.com/angelmanSB https://www.facebook.com/#!/Angelmansyndroom www.angelmansyndroom.be Post@angelmansyndroom.be
Words Of Wisdom
Words Of Wisdom Parent Shared Experience
Dads and Dudes with Angels: By Charles De Broin, from Montreal Quebec Do we dads have it easy, you say. That romantic night turns into a nine month wait for a little miracle of life. Mom suddenly takes over and knows what to do, almost by instinct, or is it the eighteen girlfriends and her mom that make it all dizzily work. No sleep, no more calm evenings to watch the game on t.v. but all this is so much fun. They grow so fast and suddenly you realize something is wrong. Mother panics, dad comforts her to no avail. Doctors spin to find what it is that makes an otherwise healthy baby not progress as the growth curve indicates. “Give it a while, children grow at varying rates”, the good doctor says. Unsatisfied, mom turns to every avenue and is told that a genetic test might pinpoint the culprit that is making our baby so different than her sister Helen’s baby. The test is done and Angelman Syndrome is defined as the source of our baby’s problem. The questions begin… “Will he talk, will he walk, that dream of him being a lawyer is still alive isn’t it, will he be able to play baseball or soccer?????” Mom is more rational… “It doesn’t matter, I will love him no matter what, just make those damned seizure stop doctor, please!!!”. The fear give way to advocacy, mom is a spoke-person for equal rights of the disabled in the school, the community and rattles parent teacher groups for
change in a system cold and oblivious to the less fortunate. Dad starts a foundation for latter years and reluctantly accepts the defeat of not having the brightest and strongest boy on the block. Before either of them know it their son is over 30 and both mom and dad realize that the dream of having a child in their lives forever, has come true He now lives in a group home, but visits regularly at home and yes, mom and dad have a tag team arrangement when their son still wakes up at 3:00 a.m. ready to start his day. They still visit the farm to see his favorite horse and in the summer visit their little country place where he can stare into a campfire and giggle as mom and dad sing campfire song like when he was a child. And this summer’s holiday spent with mom and dad, both tired and sleep deprived after a few short nights. Both looking at each other and speaking of enjoying that unconditional love… that hug at bed-time that speaks so much of thanks and recognition.
WHAT IS A MAPS DOCTOR AND WHY SHOULD I HAVE ONE? MAPS – Medical Academy of Pediatric Special Needs Interview with Dr. David Berger Wholistic Pediatrics and MAPS Physician
MAPS Physicians are at the forefront of helping families by thoroughly assessing and treating the chronic conditions based on science and the needs of each individual that can positively affect ones quality of life.
I recently had the privilege of catching up with one of the busiest lecturing physicians of MAPS, Dr. David Berger, MD, FAAP. Dr. David is a board-certified pediatrician who specializes in holistic pediatric primary care, nutritional and detoxification therapies. How can this approach help individuals with Angelman Syndrome?
Dr David – “The approach is an individualized approach. It is about Biochemistry and looking into the body and treating the body as a whole. (The reason he named his practice Wholistic Pediatrics and Family Care www.wholisticfamilycare.com) We are also documenting that individuals with Down Syndrome (also a genetic condition) are also improving with Biomedical treatments, so we know that established genetics conditions can benefit from theses treatments”.
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The Medical Academy of Pediatric Special Needs is a group of professionals who offer a Comprehensive Education and Fellowship to Medical Professionals for the care of children with Autism Spectrum Disorders and related Chronic Complex Conditions. Their mission is to prepare medical professionals to deliver the best possible care to children with ASD and other special needs conditions. Under the guidance of Daniel Rossignol MD, FAAFP, this uniquely designed scientific evidence-based course of study is designed by clinicians, for clinicians.
Dr. David (as he is referred to by his patients) is no stranger to Angelman Syndrome, in fact, he has worked with Dr. Jaime L. Frias (from the Department of Pediatrics, Division of Genetics, University of Florida College of Medicine, coauthor of the 1982 paper in the American Journal of Medical Genetics on Angelman Syndrome), he is also my son Nathan’s Pediatrician. “The individualized approach is simple Biochemistry, Physiology and Anatomy. Providing practical solutions of treatment. The time spent with each patient is very important. A five minute consultation cannot treat a patient effectively. A complete evaluation is necessary to find and correct the underlying abnormalities.”
Many of the chronic conditions that individuals with Angelman syndrome can be treated for are; Nutritional deficiencies, metabolic deficiencies, Mitochondria dysfunction, Methylation problems, inflammation, Constipation/diarrhea, illness, ear infections, allergies, sleep disorders, seizures and more. The ability to truly get individuals healthy is what I have found with you and MAPS Doctors. These are treatments that can be done today! “Yes, you have just described my overall career and the chronic conditions we treat whether it is individuals with Autism, Down Syndrome, or Angelman Syndrome. The path to healing is like a marathon, I explain to my patients, it is not a sprint. It is a steady process, much like lifting up the hood of a car and checking the engine. We must look inside the individual and evaluate the intestinal track, food digestion,
immune system, vitamin/mineral deficiency and toxicity. Some of these tests can be run by regular labs, but other tests require more specialized labs. Most mainstream doctors do not do these tests. Getting to the cause and correcting the problem is the goal. The individualized approach helps us do that. Treatments often include dietary changes, nutritional supplements and medications. MAPS will ensure that physicians meet a certain standard so parents can be assured they are receiving evidence-based information for their child.”
Dr. Berger is a Board Certified Pediatrician who specializes in holistic primary care, nutritional and detoxification therapies for autism, ADHD and related disorders, and immune dysregulation such as allergies, asthma and autoimmune disorders. He sees children and adults with these medical conditions. In addition, Dr. Berger works with women and men who wish to do preconception and prenatal counseling, testing and treatments to try and optimize the health of the pregnancy and baby. He graduated from The Medical College of Pennsylvania in 1994 and did his Pediatric Residency at the University of South Florida. He started using holistic therapies at the Tampa General Hospital/USF Pediatric Clinic during his residency. He has served as the team doctor for Tampa Catholic High School, the Medical Director for a summer camp run by the Tampa AIDS Network, and the Medical Liaison for the Palm Beach County Breast Feeding Task Force. He has been in private practice since 1997, and in 2005 he opened Wholistic Pediatrics in Tampa, Florida. Dr. Berger has been an advanced practitioner of biomedical therapies, advocating the Autism Research Institute philosophy, since 1999. In 2010, Dr. Berger was appointed the position of Assistant Professor at the University of South Florida College of Nursing, and in 2011 he became Vice President of the Medical Academy of Pediatric Special Needs. Wholistic Pediatrics and Family Care 3341 W. Bearss Avenue, Tampa, FL 33618 Tel: 813-960-3415 Email: info@wholisticpeds.com Website: www.wholisticfamilycare.com
MAPS – Medical Academy of Pediatric Special Needs www.medmaps.org Locate a MAPS Practitioner at www.medmaps.org/clinician-directory Parents seek out MAPS professionals because…. They know their child is being well cared for by well versed and educated medical professionals at the top in their field. MAPS Trained Medical Professionals have undergone intensive CME coursework, based on scientific research to address and treat the medical issues related to Autism and other related disorders.
MAPS welcomes MD, DO, ND, PA, NP, RN, & LPN Refer your medical professionals to a MAPS Clinician’s Training Course For more information: The Medical Academy of Pediatric Special Needs 16251 Laguna Canyon Rd, Ste 175 Irvine, CA 92618 Toll Free: 855.447.4200 Tel: 307.213.1400 Fax: 307.213.1401 Email: inquiry@medmaps.org
We help children and their families access the stoke of surf culture, and aspire to create a can-do environment in a world full of limitations.
"THERAsurf is an amazing organization. My son, Finn, thoroughly enjoyed his surf experience - he spent the entire time grinning and giggling with utter joy. But the real gift of THERAsurf is much more important than one wonderful day - watching from the beach as one of the surfers paddles out into the ocean with your child and then catches a wave is the most awe-inspiring and emotional experience imaginable. With each wave barriers and limitations given by doctors are smashed and you are left with the realization that given proper support the opportunities and possibilities for your child are endless. Thank you THERAsurf for a lifechanging experience!“ --Tina Thompson
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Epilepsy Awareness
November is Epilepsy Awareness Month Did you know? -1 in 10 people in the US have had a seizure. -The majority of individuals with Angelman Syndrome have Epilepsy.
For more info visit: www.epilepsyfoundation.org
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-Two Winners will receive 2 Sleepers of their choice! -Two Winners will receive 2 Zip Bibs! Enter online at www.angelmantoday/category/contests
“Oh no, this can’t be happening!” was the thought than ran through our minds when our triplets were toddlers and going through a phase of taking off their sleepers and diapers. With another daughter only twenty-two months older, a dog, and a busy household, we did not want to be spending our days changing sheets and cleaning messes! Instead, we tried to find a solution to keeping our children clothed at naptime and throughout the night. We found no solutions that we thought were safe and practical and that was how the idea of the Little Keeper Sleepers was born. Some parents refer to the Little Keeper Sleepers as “sanity savers”, “life savers” and “the reason they can sleep again”. We just know they help people, and we’re happy to be a part of that. After many design changes, we finally concluded that we needed the features of a non-stretchable neck and two snap closure systems; one that covers the zipper and one that completely prevents the zipper from being pulled down by the child. This makes removal extremely difficult for children, yet easy for caregivers to get on and off. We chose a 100% soft interlock cotton that would be comfortable, and a neutral color that could be worn by both boys and girls. As we started selling on-line, customers started asking us for larger sizes. They would tell us their stories about how their children with Autism, Angelman Syndrome, Asperger’s and other special needs also did the behavior of “brown parties”, and lots of other interesting ways of describing it! We truly listen to our customer feedback.
Parents were desperate for something to keep their child’s sleepers on at night. We discovered that these sleepers were incredibly helpful to parents who have children with special needs. As a result, we have expanded from the single version of the Little Keeper Sleeper with long sleeve/long pants to now include sleepers with short sleeves, sleepers with footies, three different color choices and sizes up to 11/12, which will fit a child over five feet tall! Our business not only has expanded with the sleepers, but we also created a bib that toddlers cannot take off using the same concept as the sleepers. The Zip Bibs feature a cute bear, are unisex and are primarily for babies & toddlers.
Although we only sell the sleepers & bibs via our website at this time, they have been shipped to almost every continent (come on, Antarctica!) Sleep consultants as well as hospitals have contacted us to use these with their patients. We have been involved in blog giveaways and fundraisers, including the FAST Gala for Angelman Syndrome. What we love the most is hearing from many of our customers after they have had the sleepers for a while. Comments such as, “It’s the ONLY sleeper my grandson cannot get out of. THANK YOU for making our lives a little easier!!”, “What a wonderful blessing your sleepers have been. They are soft & comfortable, and my daughter keeps them on all night, and we are all getting a good night’s rest”. The reduction in the amount of laundry has been a nice bonus, too!”
To Save 5% on your order, enter code: LKSAT www.littlekeepersleeper.com
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LGIT Apple Surprise Sweet Treat for the Holiday Season By Sybille Kraft Bellamy
Recipe: - Âź cup grated apple - I use the cheese grater - Mix with one egg and one tsp of hazelnut flour - Make two small cakes and fry in coconut oil for about 5 minutes - Prepare whipped cream with a drop of stevia - Layer the cream between the apple cakes and decorated with a 1tbs of blueberries & Enjoy!
thank you for your support Our Incredible Supporters The time, energy and immense support that hundreds of individuals have committed to the Angelman syndrome community through the Angelman Syndrome Foundation reached impeccable heights during this past year. Fundraising and awareness-raising efforts introduced the Angelman syndrome community to thousands of new supporters thanks to the dedication and efforts of volunteers, donors and AS families across the country. The Angelman Syndrome Foundation is deeply grateful for the efforts of each and every volunteer, donor and supporter, and would like to publicly recognize and thank a few very special individuals for their tremendous investment of time and support. All Walkers, Volunteers and Supporters, ASF National Walk The 11,700 individuals who attended the 2013 National Walk and raised more than $1 million made the Angelman Syndrome Foundation’s recent $1.25 million investment in Angelman syndrome research possible. Those participating in the 29 National Walk sites across the country worked tirelessly to fundraise in their communities, and it is making a true impact within the Angelman syndrome community. THANK YOU to everyone who participated and made the 2013 National Walk a tremendous success! Danny Fisher, Kick for a Cure The 2013 football season brought a whole new level of meaning to the Bloomsburg University Huskies and the Angelman syndrome community. Inspired by family friend Brianna Rehm, who has Angelman syndrome, Danny Fisher—a record-breaking kicker for the Huskies—launched the Kick for a Cure campaign where he encouraged his fans and community to support the Angelman Syndrome Foundation. Supporters were asked to use Danny’s jersey number 97 as inspiration to make a one-time $97 donation, or $9.70 for each field goal kicked this season. To date, Danny has raised more than $3,500—far exceeding his original fundraising goal—in support of Angelman syndrome research. The Olsen’s, Tractor Cruise and Sports Camps For the past nine years, the Olsen Family—Keith, Denise and their children—has hosted an annual Tractor Cruise fundraiser in support of individuals with Angelman syndrome. The 2013 Tractor Cruise was their most successful yet! More than 50 tractors attended with one supporter traveling more than 160 miles (one way!) to participate. The tractors proceeded along the cruise route, raising awareness about Angelman syndrome throughout the entire Horton, Kansas community, and then ended at the Olsen’s for a good ‘ol fashioned party. The Olsen’s also hosted summer sports camps to raise additional funds, resulting in a grand total of more than $6,000 from supporters!
www.Angelman.org
(800) 432-6435
Int’l (630) 978-4245
info@angelman.org
this year!
Randall Michelson Photography
The Rossetti’s and Granata’s, Windy City Thunderbolts Sue and Jeff Rossetti and Dawn and Rich Granata and their families hosted a minor league baseball game in Tinley Park, Illinois featuring tailgating, raffles and fun activities for folks of all ages in July 2013. A high-energy and creative event, it raised nearly $6,000 for Angelman syndrome research and brought in even more grassroots support for the Angelman syndrome community! Mary Wagstaff and Susan Ravellette, Get Frenchy with Gail Simmons Mary Wagstaff, an ASF Board member and sister to the late Dr. Joseph Wagstaff, one of the Angelman syndrome community’s most revered clinicians and researchers, hosted a fundraising event in partnership with ASF Board member Susan Ravellette in Los Angeles to raise funds for the Angelman Syndrome Foundation’s Joseph E. Wagstaff Postdoctoral Fellowship. The Fellowship awards funds to a young, budding researcher who is pursuing Angelman syndrome research as a career. Celebrity chefs and large donors from the greater Los Angeles area attended the event, which featured French-themed cuisine and decor. The event was a tremendous success, raising more than $28,000, and helps support continued funding for the Wagstaff Fellowship and future Angelman syndrome research. Sarah Delmotte, 5K for a Cure In September, Angelman Syndrome Foundation supporter—and sister to an individual with Angelman syndrome—Sarah Delmotte hosted a 5k in Newark, Delaware to raise funds and awareness for Angelman syndrome. The 5k raised $1,500 in donations for the Angelman Syndrome Foundation and raised awareness throughout the greater Newark area. We are incredible grateful for Sarah’s tenacity, enthusiasm and efforts in organizing this event! Penny Jusko, Madonna Jam Penny Jusko’s daughter, Madonna, is diagnosed with Angelman syndrome and this is the second year that Penny has hosted the Madonna Jam benefit concert in Cincinnati, Ohio. Featuring performers covering a range of genres, the concert was attended by hundreds of supporters from the greater Cincinnati area, raising more than $2,750 in support of individuals with Angelman syndrome and Fragile X Syndrome. Many thanks to Penny and everyone involved with Madonna Jam for advancing the Angelman syndrome community through your efforts! Angelique Tuthill, Elks Lodge Fundraiser Angelique Tuthill, whose son has Angelman syndrome, hosted an event in Middletown, NY at Elks Lodge #1097. She and supporters from the Elks Lodge raised more than $4,500 in support of individuals with Angelman syndrome, and greatly expanded awareness of Angelman syndrome in the Middletown community!
Tips for Managing Holiday Stress By Eileen Braun, Executive Director of the Angelman Syndrome Foundation and mother to a young lady with Angelman syndrome It’s not just about getting through and surviving the holidays, we all want to truly enjoy our time with family and friends. How do we balance all that we think we need or want to do and still enjoy the holidays? We hope these holiday tips will help to keep you a little more relaxed and less stressed this holiday season. Have a plan and set realistic expectations. Decide what is important to you and your immediate family. The “Hallmark” holiday we see on TV in reality most likely does not exist. Be selective and choose those invitations that are most important and special to you and your family. Perhaps celebrating the actual holiday with just your immediate family is just the ticket to keep the special holiday more manageable and less stressful and other family and friend events can be attended outside of the immediate holiday. Try keeping the guest list to a manageable minimum so the day doesn’t become overwhelming for everyone. Try a few small gatherings on different days rather than one large, overwhelming gathering. You know your child’s stressors, triggers and anxiety points, so remember to be a good observer and head things off before they get to the point of no return. Don’t be reluctant to be the last ones to show up (just call ahead if you are running really late) and it is fine to be the first ones to say
thanks for the eggnog and goodbye if that will help make your visit more enjoyable. Watch for subtle, escalating, non-verbal cues your child is communicating to you and others that s/he is becoming anxious and/or overwhelmed. Intervene with a break or calm, quiet private relaxation time and ask your individual when s/he is ready to join the gathering again and honor her/his request. Don’t forget your routine. Our children typically do best with structure and routine. Cookies and milk may well be a part of the holiday season, but eating well, getting enough rest and sticking to routines will help everyone in your family enjoy the holidays. Don’t let these routines get away from you completely, as they will be harder to re-establish once the holiday season is done. It’s OK to take a break. If you are hosting people at your home and your child is feeling overwhelmed or is in need of some time alone make sure s/he has a safe place for some quiet, down time. When you are visiting friends and family, talk with the hosts and identify a quiet space where your child and you can “escape” when s/he is feeling overwhelmed or in need of some quiet or alone time. Also be sure to ask about any house rules (like no food in the bedrooms) that will make the
visit less stressful for all. Clothes don't make the child. If your child is sensitive to certain types of clothes, or just stubbornly insists on wearing something you (or, you suspect, someone else) will find inappropriate, don't pick a battle with all of the other potential stressors during the holiday season. While eyebrows may raise if your child isn’t dressed to the nines, the goal is to start your child out with as low a stress level as possible. Fussing over clothes, or putting her or him in clothes that you know will cause anxiety, is a tough way to start. Augment the menu. Whether you're bringing a little something to someone else's gathering or planning the gathering in your own home, make sure there are a variety of items your child will enjoy eating, especially if your child is on a special diet such as the L.G.I.T. The goal of the day isn't cleaning your plate or trying new foods or pleasing the cook. It's making sure your child is wellnourished, sticking to her/his diet and, more importantly, it's about giving thanks for the good things in our lives.
Remain calm. Memorize this phrase, and repeat it over and over in your head whenever you feel yourself losing your cool: I do not have to apologize for being a good parent to my child. We may struggle under the weight of "advice" or disapproval from family members, but our kids don't care about that: They need what they need. You know best what your child needs, and providing it is your most important responsibility, no arguments. Since most children with special needs react poorly to stress in their environment, particularly stressed-out parents, staying relaxed and low-key is one of the best things you can do to keep your child's behavior in line. You can always throw a tantrum when you get home. No martyrs here. Don’t be afraid to ask for help or ask for a break—even if it is for 15 minutes or a couple of hours. Ask a friend or relative who understands and is familiar with your child to keep an eye out and engage her or him regularly. If you can line up a few people to take turns, nobody will miss too much socializing time. It’s not about things being perfect it is about time well-spent with those we care about and love. Give plenty of praise. If your child is doing a great job handling party stress, give her or him lots of positive reinforcement. Compliments, high-fives and hugs go a long way toward keeping good behavior coming. A happy child makes for a happy party, and that's a pretty good goal. What to do about gifts. If you are like many families, you have a house full of toys from relatives that your child has no interest in playing. So how do we get our families to purchase gifts our children are sure to enjoy? Point
your family in the right direction by creating a list of items and email it to your relatives along with the link to the store and the product number. Make it as easy as possible to purchase the item. Look at toy catalogs from the perspective of your child’s strengths and challenges. What toys seem visually stimulating? What toys have a hands-on tactile look to them? What games promote word recall? What games include player interaction? What games help foster conversation?
As our children get older, the challenge is that the things that once interested them no longer do—and that is a good thing because they are growing and maturing and developing new skills and interests! Remember, too, that it is not the quantity or equality of the gifts, but finding those gifts that are most meaningful to our children with Angelman syndrome. Perhaps a special holiday pillow, comfy blanket, special cuddly sweatshirt or item that your individual can identify with will have particular significance and meaning for her and will quickly become a favorite, treasured gift that reminds her of this special holiday! Gift Giving Time. Any one or more of these scenarios may describe your child with Angelman syndrome. Here are a few helpful hints if: ~Your child is unable to open presents Relatives love the excitement of seeing the youngsters open their presents but your child is unable to do so. Earlier in the day, before the melee of gift giving starts, you might ask each relative to spend time with your child and open the present for him.
This will be more meaningful for both your child and relative. ~Your child is uninterested in opening presents Even if you open the presents for your child, he doesn’t acknowledge that they are there. What do you do? Open the presents at home. Your family might be disappointed but tell them that he is so interested in everything else that he just can’t focus on the presents. Tell them that he will enjoy opening and playing with his gifts in the quiet of his home. ~Your child is interested in unwrapping presents but not the gift For your child it’s all about ripping the wrapping paper. He doesn’t even pay attention to the toy. Take note of who gave which present. On a later day when your child plays with his toy, take a picture to send to the relative to say thanks. Another suggestion is to ask some relatives ahead of time if your child can help open their presents. Your child can look forward to Grandma inviting him to open the presents for her. ~Your child focuses on one present Your child has a mound of presents but stops after opening the second present. Let him open his presents at his own speed. You might end up taking half of the gifts home with the wrapping still on them and that’s okay. Let him open the rest the next day.
~Your child is overwhelmed at everyone opening presents Your child may be overwhelmed by the chaos of everyone talking at once and tearing the wrapping paper off their presents. If this sounds like your child, it’s okay to go to another room and watch a holiday TV show while the rest of the family opens presents. Another suggestion is, earlier in the day have
Combatting Misdiagnosis
Calendar of Angels
Due to the Angelman syndrome community’s support and that of several media partners, the Angelman Syndrome Foundation launched a public service campaign aimed at reducing the rate of misdiagnosis of individuals with Angelman syndrome. Nearly 50 percent of individuals with Angelman syndrome were originally misdiagnosed with an incorrect disorder prior to obtaining the proper diagnosis of Angelman syndrome. This is unacceptable, so the Angelman Syndrome Foundation created a campaign to raise awareness of Angelman syndrome and its symptoms among the general population, specifically parents, through development of 30-second and 60-second public service announcements (PSA). Thanks to the support of Time Warner Cable and numerous independent television stations across the country, the PSA is airing nationally and in large media markets that span the country.
The 2014 Calendar of Angels will soon be available for purchase! Share the spirit of love this season by giving your friends, family and loved ones the Calendar of Angels as a gift. The calendar features individuals with Angelman syndrome and proceeds from calendar purchases directly benefit the Angelman Syndrome Foundation.
The Angelman Syndrome Foundation is incredibly appreciative of the families who participated in the making of the PSA and of the Angelman syndrome community for supporting the PSA.
Order yours today!
2013CNaGleEnLdSar A
of
Your Support Makes Our Work Possible
Sharing the PSA with your networks—and asking your friends, family, neighbors and colleagues to share the message with their networks—is essential to this campaign! With your help in spreading the word, we can ensure a more timely diagnosis for our loved ones with Angelman syndrome. You can share the PSA from the ASF’s Facebook page or website.
www.Angelman.org
(800) 432-6435
It is because of your support that the Angelman Syndrome Foundation is able to invest millions in promising research, and provide essential support services for individuals with Angelman syndrome and their families. The end of the year is the perfect time to show your support and invest in Angelman syndrome research and family support services by making a tax-deductible donation to the Angelman Syndrome Foundation. THANK YOU for your ongoing support of the Angelman syndrome community and stay tuned for more information about how you can support Angelman syndrome families and research.
Int’l (630) 978-4245
info@angelman.org
Tips for Managing Holiday Stress continued… your child, at her leisure, present each relative with a gift. Your relative may also decide to give her present to your child at this time. Now your child can give and receive a gift in a relaxed atmosphere. In a half hour, go to another relative and do the same.
Special Tips for Travelling Families Medications and Medical Records Gather your child’s medications and a copy of his or her medical records. Make sure you have enough refills for the length of trip and a few days extra in case of inclement weather. Medical Equipment If you are traveling with medical equipment such as a wheelchair or oxygen make sure to visit the TSA’s web pages on medical devices and Assistive Devices and Mobility Aids. These pages will be very helpful in guiding you through security at your local airport. Call your departing and arriving airport to find out what guidelines they may have. Upon arrival some of your checked medical equipment may be offloaded at a special baggage claim. You may also need to contact your airline (by phone or web) to find out how they handle medical devices that are carried on board or checked in.
In Case of Emergency In case of emergency make sure you find a doctor at your destination that will be able to provide temporary care. Ask your pediatrician for a referral Safety – Wandering Individual If your child is a wanderer, consider a temporary tattoo http://www.tattooswithapurpose.c om/ or purchasing a child tracking device before you travel: http://www.lok8u.com/. In case your child becomes lost, it is helpful to have a recent photo and a written description of your child’s special needs (Will she respond to her name? Will he run away from strangers?).
condition, or the passenger may be referred to disability experts at TSA. TSA recommends that passengers call approximately 72 hours ahead of travel so that TSA Cares has the opportunity to coordinate checkpoint support with a TSA Customer Service Manager located at the airport when necessary.
Small Bills Whether it’s the taxi, airport shuttle driver or the skycap, make sure to get all the help you can. Bring plenty of small bills to tip anyone who is helping you out. Check-In at Home Don’t wait in another line at the airport! Print your boarding pass at home or check-in via your smart phone. Save yourself the hassle!
Before You Head to the Airport: Call the TSA The TSA has a helpline for individuals with special needs. Call TSA Cares. Travelers may call 1-855-787-2227 prior to traveling with questions about screening policies, procedures and what to expect at the security checkpoint. When a passenger with a disability or medical condition calls TSA Cares, a representative will provide assistance, either with information about screening that is relevant to the passenger’s specific disability or medical
Have a backup plan Weather, mechanical issues, missed connections or late arriving flights can wreak havoc on your carefully laid plans. Make sure you make plans for a one hour delay, multiple hour delay or a complete cancellation. Have a social story ready that will visually tell your child about the delay and what may happen next. Take a deep breath and smile You have spent time planning and preparing. The day is finally here. Take a deep breath smile and enjoy this special time with your family!
Tel.: 670 90 90 07 info@angelman-asa.org www.angelman-asa.org
The Angelman Syndrome Association (ASA) is a non-profit organisation founded in Barcelona in October 1996, on the initiative of a group of concerned parents with children affected with this syndrome. Our association is comprised of an approximate number of 200 affected families dotted around the country. Our association was formed for the purpose of enhancing communication among the families,
providing support, counselling and information, and fostering research for a deeper knowledge at all levels on the AS that will allow affected individuals to attain a better quality of life. Mainly concentrated on the purpose of supporting the families of affected individuals, particularly those newly diagnosed, we have a supporting family network around the country who voluntarily provide support and advice to parents who require guidance and information. Moreover, we keep in contact with other international Angelman Syndrome Associations, to foster the exchange and sharing of information, as well as collaboration in all the different fields.
FAMILY MEETINGS Every year we celebrate the family annual meeting to be held in the different autonomous communities. In 2013, this meeting was held in Torrej贸n de Ardoz (Madrid). During these encounters, we organise leisure and fun activiites for the children, as well as professional conferences on education, medical, social or legal issues. This way awareness is raised by sharing opinions and experiences among parents and keeping in contact with caregivers and medical professionals in the Angelman Syndrome.
This year we have hosted Dr. Weeber and also Dr. Mayor.
MAIN ACTIVITIES An intense activity has been carried out by ASA during the last year thanks to the great commitment of its members. Different events have been organised with the aim of raising awareness and funds for research. We have equally participated in a large number of events or activities organised by other associations and institutions, where we helped setting the tables for the merchandise selling in order to raise funds. Our main fund raising campaigns: 1.- Old mobile phone collection for recycling them for trade. That was a very successful initiative in which over 68,000 mobile phones were collected in a year’s time. 2.- Handmade product selling produced by the mothers members of the association, such as bracelets, necklaces, earrings and other jewlery but also biscuits and different items. 3.- Awareness rubber wristband selling. Moreover, a large number of other events have been carried out during the last year (bazaars, sport events, charity events and festivals, etc.), especially the Padel Tournament held in February on the occasion of the International Angelman Syndrome Day, where the raised funds were enterely donated to the FAST (Foundation for Angelman Syndrome Therapeutics). RAISED FUNDS ALLOCATION The purpose of all our activities is raising awareness of the Angelman Syndrome and raising funds for the actual management of the association as well as to foster research. This way, the funds raised from the old mobile collection are monthly sent to the FAST in order to finance Dr. Edwin Weeber’s research. Part of the assets were allocated to contribute to a clinical trial with minocycline which is likely to be initiated soon in a spanish hospital. ASA would collaborate with that hospital in case it required a money contribution or with the member families who would take part in the trial. There are also a certain amount of funds being allocated to a research that is being carried out in Spain by Dr. Ugo Mayor in the CIC Biogune Center.
Main events 2012 and 2013
PROFESSIONAL CONGRESSES In 2012 a university congress was organised inValladolid on the Angelman Syndrome. We are aiming to host another professional congress in early 2014. This encounter seeks to advance the awareness of Angelman Syndrome among those professionals who take care of our children (physiotherapists, speech therapists, psychomotor specialists, special education teachers, etc.) to help them with how to deal with the management of children affected with this syndrome.
www.angelmannetwork.com
TAN trustees: Gemma, Ursula and Nadine with Mary Louise Bertram
Special points of interest: Kiwis in Sydney Connecting Families, Specialists & Researchers The Global Picture Where to now…?
Above: TAN Cultural Advisors: Keith Henderson, Sivao & Johno Winther with Ursula and Nadine.
Kiwis in Sydney In early October, seven families and two pediatric specialists from New Zealand arrived in Sydney, Australia (only a 3 hours flight from Auckland), to attend the International Angelman Syndrome Conference. This event also celebrated the 20th anniversary of the ASA organization and of the establishment of the Angelman Clinic in Sydney. There was clearly a lot to celebrate! Three trustees from The Angelman Network (TAN) Trust attended: Ursula Cranmer (Chair), Nadine Henderson (Secretary) and Gemma Bradburn; both the latter with new babies on their hips. Our Cultural Advisors, Sivao and Johno Winthers and Keith Henderson, as well as additional families from across NZ, were also present The weekend proved to be a first class event and presentations by Prof Ed Weeber, Prof Bernard Dan, Dr Robert Leitner, Mary-Louise Bertram and Meagan Cross, were highlights for our NZ families; as was meeting Maria, an angel who just turned 70 !
Above: Liz and Anne cut the ASA 20th Anniversary cake! Below: Ursula meets Maria (70yrs)
Prof Dan, Prof Weeber, Mary-Louise, and Meagan Cross (Chair, FAST AU)
Kiwi-mums meet-up
The Hendersons, Ed Weeber and Kevin Kennedy
We were warmly welcomed and by the end of the weekend, we felt well connected. Indeed it became clear that we could achieve much more by working closer together as
an Australasian AS team. We are so grateful to Liz Stanley, Anne Funke and the wonderful ASA organizing Committee for providing this wonderful networking opportunity for our NZ families.
The global picture: where to now…? The Angelman Network is seeking to actively expand on the initiatives which the recent international conferences have generated. We aim to: 1. Identify NZ scientists, medical professionals and organizations that are interested in Angelman Syndrome. 2. Form a NZ AS Network via phone calls, emails
and face-to-face meetings. 3. Connect this group to international individuals , orgs & institutes who share similar goals for AS. 4. Continue strengthening the International AS Collective so that we can ‘build faster tracks’ (as per FAST AU), ie. collaborate globally, share information and resources quicker,
fundraise harder and initiate more research, world wide. 5. Focus on achieving these short term goals by the next International Angelman Day—Feb 15th 2014. We invite you to follow our progress on our website ! www.angelmannetwork.com
Greetings Angleman community and all the readers of “Angelman Today”. I would like to thank Liz Sordia for stepping out and showing leadership by creating this periodical to bring us all closer and help us find ways to meet our challenges that will maximize our Angles’ potential and the opportunity to share with you the experience of the moment I and my wife learned that Max had Angelman syndrome.
I am a Dad of a 12yr old Angel named Maxent. Max has two brothers, Charle, age thirteen and Tristan, age eight. It is a day I am sure all parents and families remember like yesterday, a mark of a journey that is remarkable. Maxent was born November 5, 2001. He was due the second week of December but he decided he did not want to wait that long. Our family was in the midst of quite a bit of chaos as the events of September 11 had just disrupted our lives. I work in the financial markets and my office was 1 block from the World Trade Center. I was displaced from my job as a result of the horrible events of that day. Our family is very blessed that this is all that occurred to us and our prayers are with the many friends and associates and victims we lost. May peace always be with them and their loved ones.
My two partners and I were lucky enough to find an opportunity but it required us to relocate to Irvine California. In the meantime, my wife Sybille and 16 month old son, Charle moved to My Mother’s house in Delaware. We figured I would get a feel if the company was a good fit for the family and if it was, we would move everyone out after Sybille gave birth in December. Two weeks later Max made his big debut! As a result of his impatience (6 weeks premature) Max needed additional care and was rushed from the birthing room to a neonatal unit (12miles away accompanied by a police motorcade). Eleven days later on the way home from buying groceries with my Mother driving, Sybille and the boys were rearended. Max had his second ride in an ambulance to the ER and was released with “no apparent” injuries.
Meanwhile things in Irvine were going well and I was hunting for an apartment to call home. Sybille and the boys arrived the first week of December. Five days later Max was in the ER diagnosed with pneumonia and needed to be admitted as he required oxygen to keep his saturation level normal. Max’s pneumonia slowly cleared up but his saturation level remained low requiring him to remain on oxygen. He was tested for a plethora of diseases and conditions but nothing appeared. A lung x-ray revealed his right lung was partially collapsed. His hospital stay lasted approximately 3 weeks. He returned home where he required 24hr oxygen until his saturation level returned to normal
In the following weeks regular follow ups with the lung specialist and an ultrasound test reveled Max’s right diaphragm (muscle at the base of the lung that fills and dispels the lung with air) partially paralyzed. The recommendation was to stay the course and hope the diaphragm proved strong enough to perform its duty as Max developed.
After five months and little change Max needed surgery on his lung called a diaphragm plication which now keeps his lung permanently open and close to full capacity. On the downside the diaphragm does not function properly. As a result Max struggled with any small cold or infection quickly turning into pneumonia making him a regular at the ER over the next year. We traded our oxygen tanks for a nebulizer and became breathing treatment specialists. Time marched on, we returned back to NJ. Max was growing well as we managed his breathing issues but Sybille noticed he was missing some basic milestones. We spent the next few months in and out of specialists’ offices and were receiving a similar response, “Max is doing as well as you could expect given all he has been through, it is not abnormal for him to have some delays.” One of the last neurologists we saw suggested we get a genetic test which had also been suggested earlier by our
pediatrician. This is when things changed with our Doctors’ visits. We had become very accustomed to having trouble scheduling appointments with specialists as well as having long waiting room visits only to feel rushed when we spoke to a Doctor who assured us everything was fine. The visit with the genetic “team” was very different. For starters when we arrived they offered us a cup of coffee (Sybille told me after the appointment she knew immediately we were in for it!). When we were invited into the office, it was a large room with a big table where three people were seated not including the Doctor who escorted us in. That’s when I recall muttering, “uh-oh” under my breath as the hairs on my neck stood straight up. Introductions were made while we braced ourselves for what we were about to learn. “Mr. and Mrs. Kraft, we have the results of Maxent’s genetic test and have found we have an explanation as to why he has been running into some developmental delays…….Max’s results reveals he is missing a part of gene #15 which we know to be the genetic disorder called Angelman Syndrome…..” Freeze frame! Silence hit my brain despite seeing and watching more information being presented to us through the moving lips of the other specialists. Shock , fear, denial all rushed into me simultaneously as the jumbled murmurs of medical terminology rolled out of their mouths like fire balls torching from a fire breathing dragon. When I finally heard English, “do you have any questions….”? That’s when my most amazing wife without hesitation started belting out questions that doused the flames from the evil
dragons to bring some order back into my panicked mind. “Does he have a normal life expectancy? Is it a degenerative disorder? Will he need surgery? What kind of therapy will he need? How do we get it?” She immediately grounded me and brought sense into the shocking news we just were presented.
The genetic counselor, in a soothing voice asked me, “Mr. Kraft, I know this is a lot to take in, what are you feeling….?” I thought for a second and was completely blank, I fumbled out something like, “I don’t know yet, you just told me my child is handicapped”. In hind sight I should have pointed to my wife and said…..ASK her SHE’S IN CHARGE!” It was shocking news to say the least. It’s a day I’m sure we all remember well but I will never say it was a bad one because our Angels are an amazing gift. Sybille came home and charged to the internet and got to work while I broke the news to my family. I remember clearly the awesome welcomes Sybille found from our fellow Angleman parents on the internet, practically congratulating us! Bracing us for the road of eye gouging, hair pulling, pinching and slobbering we were on our way to travel. It’s not an easy road we travel but it sure is fun! We have learned some much taking care of Max. All the Angels out there are an amazing force of love and goodness. We are all blessed to have them. We as parents have to keep up the good fight to keep them safe and on their road to reach their maximum potential. Thanks to Angelman Today we can share our experiences and tricks that will keep us on that road.
The Israeli Angelman Syndrome Foundation was established in 2012 with the aim of consolidating the efforts carried out in Israel to improve the lives of people with AS by promoting early diagnosis, research, treatment and training. The foundation is designed to provide services to all Israeli children with AS and their families
We seek to advance the awareness, understanding and treatment of AS, with the ultimate goal of finding a cure. We offer consultancy and mental support for AS families. We hold social gatherings for AS families in holidays and weekends with the hope of giving these families support and hope. To this end, we feel it is important to cooperate with AS organizations around the globe, share databases and information and actively participate in research and trials The Israeli AS clinic operates within the Pediatric Neurology institute of the Sheba Medical Center in the city of Tel-Aviv. Children with AS are treated by a dedicated team of physicians including a psychiatrist and a nutritionist, led by a pediatric neurologist. The clinic applies a multidisciplinary approach to address the main clinical issues of AS, including seizure and movement disorders, speech difficulties, sleep disorders, hyperactivity and attention disorders, in addition to other behavioral and Orthopedic concerns. The Sheba AS clinic aims to conduct a dedicated research and clinical trials on AS and to collaborate with AS centers worldwid Over the last year we have held two scientific symposiums with various presenters in the areas of neurology, speech therapy and psychology, as well as lawyers specializing in social security procedures.
Happy Holidays from
Angelman Today
Angels in Action Celebrating the Abilities of our Angels (In French and English) François a 24 ans et est UPD. nous avons eu le diagnostic quand il avait 13 ans. Jusque là, il avait vécu presque comme s'il n'était pas handicapé malgré un écart de plus en plus grand avec les autres enfants. . Il a marché à 25 mois mais le langage n'est pas venu. Sinon, il était facile et s'intégrait dans les groupes sans poser de problème. C'est pourquoi, j'ai tenté beaucoup d'apprentissages avec lui, d'autant plus qu'étant professeur, je ne concevais pas que mon enfant n'ait pas droit à l’éducation. Il a eu un trotteur avant de marcher puis un tricycle à deux ans. A deux ans et demi, il savait pédaler. Chaque année en vacances , je lui ai apporté un vélo, d'abord avec des petites roues, puis un été, nous sommes partis avec deux vélos. l'un avec des petites roues pour qu'il puisse en faire librement dans le jardin, et un sans petites roues pour commencer à apprendre. Et tous les jours, je lui faisais faire dix minutes de vélo sur la route autour du village. Je tenais le guidon et la selle pour qu'il ne tombe pas et je courais en même temps qu’il avançait! J'ai bien transpiré! Mais au bout de deux semaines, j'ai commencé à le lâcher et il s'est mis à en faire tout seul. C'était gagné.
François is 24 years old and UPD. We got the diagnosis when he was 13 years old. We treated him as if he wasn’t handicapped despite of the increasingly great differences with other
Tous les étés, avec son oncle et moi-même, nous l'avons emmené faire des petites promenades, de plus en plus longues. En hiver, je l’amenais presque tous les dimanche matins faire du vélo au bois de Vincennes près de chez nous. Parfois, il ne refusait d’avancer ou il s'arrêtait brusquement et celui qui était derrière manquait de tomber ou il prenait tout à coup un chemin ou il faisait demitour brusquement. Bref! L'apprentissage fut long. On lui a appris à freiner, à s’arrêter au stop, à rester bien à droite (c'est cella plus dur encore mais il y arrive de mieux en mieux). Maintenant, il adore faire du VTT mais aime aussi faire de la route, restant bien sur le côté quand une voiture arrive. Bien sûr, on est vigilant et on l'avertit à l'avance des croisements, des arrêts, des voitures qui arrivent. Il peut faire des promenades de plusieurs heures sans fatigue. Au début, il jouait avec le dérailleur et on l’avait bloqué. Depuis 2 ans, il ne le fait plus. On lui règle le dérailleur pour qu’il ne puisse pas aller trop vite quand même. Moi, j’ai du mal à suivre mais heureusement, son oncle peut encore mais bientôt l’élève va dépasser ses maîtres
children. He walked alone at 25 months but the language did not come. Otherwise, he was calm and became integrated easily into groups without causing behaviour
problems. I worked hard to educate him, especially because I was a teacher, I could not imagine that my child would not be educated. He had a trotter before walking then a tricycle when he was 2. When he was 2 and a half, he was able to used pedals. Each year on holidays, I gave him a bicycle, first with training wheels and later we went to two wheels. He had one bike with training wheels so he can freely ride in the garden, and one without training wheels to start learning. And everyday, I made him practice ten minutes on the road around the village. I held the handlebars and saddle it so it did not fall and I ran! I was soaked in sweat! But after two weeks I stopped, little by little, holding the bicycle and he got to do it alone. The bet was won betweem his uncle and I. Each summer holiday, we go for rides, more and more.
In winter, with me, he bikes on Bois de Vincennes near our home. Sometimes he does not want to continue or he will stop suddenly and turn to see if anyone was behind him. In short, learning was long. He was taught braking, stopping remaining on the right side of the road (it is the hardest but he gets better and better ). Now, he loves all terrain bikes but also, he enjoys the road, remaining on the correct side of the road when a car arrives . Although, we are vigilant and warn him in advance of the crossings, stops signs and when cars arrive. He can ride several hours without fatigue. In the beginning, he played with the derailing and we had to block it. Now, for 2 years, he does not play with it any longer. We settle (adjust) the derailing so that he cannot go too fast. I have difficulty in following him now but fortunately, his uncle still can but soon the pupil is going to exceed (overtake) his teachers!
Clinical Trial Begins on a New Treatment Using Cannabis for Intractable Seizures in Children There is a study underway to test the safety and efficacy of Cannabidiol (CBD), the nonpsychoactive compound of cannabis. Some of the experts involved are the Angelman communities’ very own specialists Dr. Elizabeth A. Thiele and Dr. Ronald Thibert of Massachusetts General Hospital. Both Physicians are members of the Scientific Advisory Committee of the Angelman Syndrome Foundation. The study will provide a better understanding of the maximally tolerated dose and potential side effects of CBD as well as display its efficacy in two welldefined childhood epilepsy syndromes, Dravet and Lennox-Gastaut, which are very difficult to control even with medication.
CANNABIDIOL (CBD), the nonpsychoactive compound of cannabis
Angelman Today will be following this study closely and will keep you informed.
For more info about this study go to: http://www.gwpharm.com/Phase1Epilepsy.aspx
The Foundation for Angelman Syndrome Therapeutics Presents the 2013 FAST Global Summit on Angelman Syndrome A Weekend-Long Event Including an Educational Seminar, Scientific Symposium, Fundraising Gala and more FAST Global Summit on Angelman Syndrome The Foundation for Angelman Syndrome Therapeutics ("FAST") is pleased to announce that the 2nd Annual Global Summit on Angelman Syndrome will take place on Friday and Saturday, December 6-7, 2013 at the Hyatt Regency Chicago. You will not want to miss this year's excitement as we have more free seminars, more guest speakers and even more celebrity attendees!
The Annual FAST Gala will take place Friday evening, 6:00 PM to Midnight, in the Regency Ballroom of the Hyatt Regency Chicago. Guest speakers this year include Dr. Edwin Weeber and Dr. Rebecca Burdine. Guest of Honor is Golden Globe winning actor and fellow parent,Colin Farrell. Additional celebrity attendees will be announced in the coming months! Entertainment will be provided by 7th Heaven Band. Additional entertainment will be announced in the coming months. There will be two seminars on Saturday afternoon, December 7th, 2013, one on challenging behaviors in Angelman Syndrome and one on sleep strategies for children with Angelman Syndrome. Dr. Chris Oliver, world expert on challenging behaviors in Angelman Syndrome, will host the seminar on behaviors and Dr. Keith Allen, Professor of Psychology and Pediatrics, will host the sleep seminar, both will have a parent Q&A session immediately following. To view videos of the Educational Seminar and Scientific Round Table hosted at the 2012 FAST Global Summit on Angelman Syndrome, please visit the FAST YouTube page. A Scientific Round Table panel will be held on Saturday, December 7th, 2013. Speakers include renowned Angelman Syndrome experts, Dr. Edwin Weeber, Dr. Scott Dindot and Dr. David Segal. Additional speakers will be announced in the coming months. The Scientific Round Table discussion will be the most comprehensive and up-to-date overview of the current landscape of Angelman research. Immediately following the informative discussion, the scientists will answer any questions from audience members in a Q&A session. Important facts to know about the 2013 FAST Global Summit on Angelman Syndrome: Date: Friday - Saturday, December 6-7, 2013 Location: Hyatt Regency Chicago, 151 E Wacker Dr, Chicago, IL 60601 Events: Friday night - Annual FAST Gala Saturday afternoon - 2 educational, Angelman-specific seminars Saturday afternoon - Scientific Round Table
Sponsorship: To purchase corporate sponsorship, please click here. Program Advertisement: To purchase program advertisement, please click here.
Program Announcement: To purchase an announcement for family or a friend, please click here. Silent Auction Donation: To download the silent auction donation form, please click here. Costs: Admission to all seminars will be free to the Angelman community. Tickets to the Gala are $150.00 per person. Tables of ten (10) and twelve (12) are available for purchase. FAST is releasing a limited supply of tickets at this time. You may purchase tickets by clicking here. The FAST room rate at the Hyatt Regency Chicago is $109.00 per night plus tax. This rate is available from 12/03/2013 to 12/09/2013. This rate is only valid if you book before November 15, 2013. You may book your room by clicking here. Rules & Restrictions: Absolutely NO children under the age of 21 will be permitted to attend the Gala or enter the Gala venue. Children are permitted and welcome to attend the seminars. Tickets and table purchases are non-refundable. Colin Farrell Ticket Giveaway: The Colin Farrell Ticket Giveaway will be announced this September. Every Angelman family will be eligible to enter the drawing for a chance to receive either one or two complimentary tickets to the Gala. The ticket giveaway will be announced via email and on the FAST Facebook page. There are a very limited amount of tickets in this drawing, so please note that entry in the drawing does not guarantee you will receive tickets. Guaranteed Complimentary Tickets and Lodging: The Summit is so much fun and so educational, that we often forget its main purpose is to raise funds for research! We encourage all of you to secure Corporate Sponsorship, Program Advertisement or Program Announcements from your employer, local businesses, friends and families for this very exciting event. Individuals who secure either a $1,000.00 Corporate Sponsorship or $1,000.00 in Program Advertisement and/or Announcements will receive two complimentary tickets to the Gala. Individuals who secure a $5,000.00 sponsorship will receive two complimentary tickets plus a two-night stay at the Hyatt Regency Chicago. Click here for sponsorship forms. Click here for a Program Advertisement and Announcement Form. The Gala will be a sold-out event. We are not able to live-stream the Gala on the web this year. FAST intends to live-stream and videotape the seminars but this is contingent upon Summit sponsorship. If you want to ensure your attendance at the event, please purchase your tickets now or win them by securing Corporate Sponsorships. If you have any questions about the FAST Global Summit on Angelman Syndrome, please send an email to info@CureAngelman.org.
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