INCLUDING RESOURCES ● RESEARCH ● INSPIRATION
Angelman
Angelman Research By Ed Weeber Ph.D.
Today
d i g i ta l ma g a z i ne
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EDITOR’S LETTER
This marks the anniversary of the first edition of Angelman Today and the first magazine dedicated to individuals with Angelman Syndrome, their families, care takers and anyone wanting to know more about this genetic condition. This year has gone by very quickly, but so much progress has been made. We have partnered with many of the Angelman Foundations across the globe to unite in a single resource that makes it easy for families and those interested in Angelman Syndrome to learn about what life is really like, be inspired by what our loved ones can do, find products and services to help them in their daily lives, support those on therapeutic diets and read about the latest AS research. Today families are busy with work, therapies, IEP meetings and doing what they can to fundraise for the amazing AS organizations. Angelman Today gives each and every foundation the opportunity to share with parents the great things that money is being used for. We (at Angelman Today) are parents too, so we understand there is not enough time to go to all of the websites and search for information and that is why we bring it to you in this magazine. I want to say “Thank you” to everyone for your support and the well wishes as we celebrate our first year! We look forward to many more! Warm Wishes, Lizzie Sordia Editor - in - Chief
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What’s inside
Angels in Action - Kamaray, age 7..…….9 Joseph E. Wagstaff Postdoctoral Fellowship………………….10 Summer Time Tips for Water Safety By Shannon Purcell…..………………......11 The (Not So Invisible) Dangers In Your Home……………………………..12 The History of Angelman Syndrome (Spanish)…………………………….........14 Eva’s Journey with Seizures……….…………………..………22 Mompreneur Marketplace……………. …23
History of AS……………………….….…..24 Dr. Anna Larson…………..………..…26-28
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Photo by: Photos by Julee 715-965-7448
Cover: Alyssa is 18 years old, del+ . She recently graduated high school in May. She lives with her Mom, Dad and 13-year-old sister in Medford, Wisconsin. She loves to swim, ride 4-wheeler, go to amusement parks, watch movies, run around in the backyard, swing, go to the movies and go out to eat. Alyssa is a pretty happy girl. She will continue on in high school until she is 21.
Angelman and Associated Foundations Canadian Angelman Syndrome Society……………….....4 Angelman Syndrome France….......6 AS Meeting – Paris 2014
Parent Recommended Books..………….23
The Angelman Syndrome Foundation…………………….…...16
Angelman Research By Ed Weeber Ph.D.…....………….…31-32
Asociacion Sindrome de Angelman………………………..…19
Healthy Fats…………………….…………33 Hello Summer! By Sybille Kraft Bellamy…..….…….........24 Classifieds…………………………………27
The Angelman Network – New Zealand…………………………..…21 THERAsurf…………………….…...35
CASS CONFERENCE IN OTTAWA 23 to 25 JULY 2014
For information on how to register for the conference and see our 20-page Conference Booklet go to www.angelmancanada.org. We look forward to welcoming you to “Unlocking the Possibilities” this July 23rd to 25th!
Take Advantage of our Great Room Block Rates – while they last! Rooms at the Delta Ottawa City Centre (booked prior to June 23rd) cost $139.00 plus taxes per night. Delta Ottawa City Centre Reservations Direct (613) 237-3600 x 6200 Toll Free 1-855-330-5360 Fax (613) 688-6821 Email dotreservations.sm@deltahotels.com Group Block Code 0714CASS Group Name Canadian Angelman Syndrome Society
Our Speakers: Dr. Ben Philpot – Gene Awakenings for the Treatment of Angelman Syndrome Dr. Stormy Chamberlain – Induced Pluripotent Stem Cell (iPSWC) Models of Angelman Syndrome Heidi Blackburn – First Timers’ Session Dr. Julien Marcadier – Genetics 101 Dr. Wen-Hann Tan – Clinical Research in Angelman Syndrome Dr. Ron Thibert – Seizures and Sleep in AS; Seizure Treatment and Sleep Disorder Treatment Options; Adult Issues in AS ; and (with Dr. Portia McCoy) Gastrointestinal Issues in AS; Dr. Ben Philpot – Insights From Mouse Models into the Pathophysiology of Angelman Syndrome Dr. Charles A. Williams – Mosaicism in Angelman Syndrome; Infancy to Adulthood: Understanding Angelman Syndrome After Five Decades of Awareness Eileen Braun – Update on AS Clinics
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Mary-Louise Bertram – Technology for Communication; Workshop: Updated Research, Communication Options, and Implementing at Home Alex Dunn – Is Your Child Integrated But Not Fully Included? Dr. Jane Summers – Update on the Angelman Syndrome Behaviour Modules; Update on Applied Behaviour Analysis and Angelman Syndrome Diane News – Housing From the Ground Up Betty Daley – Creative Solutions to Housing for People with Disabilities Erin Sheldon – Lab: We Got an Ipad! Now What do we do With it? ; Workshop – Parent Advocacy, Conversation Skills, and Emerging Literacy J. Michel Longtin – Financial and Estate Planning for Families Impacted by AS Kimberley Gavan – A Meaningful Day and the Power of Roles as well as – Interactive Sessions -- “Ask the Doctors” , “Parent to Parent”, and “Ask the Professionals”`
JULY / AUGUST 2014
GIVEAWAY! 10 Will Win A Patch From QR Code ID! Enter online at: angelmantoday.com
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JULY / AUGUST 2014
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.
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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
JULY / AUGUST 2014
Angels in Action Celebrating the Abilities of our Angels By Andria Sivill, Mom to Kamaray
This is Kamaray (Kami) Sivill, age 7 from South Sioux city NE riding her new adaptive TRIAID bike she won through the Great Bike Giveaway. Kami is enjoying her summer & new found freedom riding in the outdoors. Thank you, Bart, Andria & Kamaray Sivill
In the previous March-April edition of Angelman Today, we helped to promote The Great Bike Giveaway through Friendshipcircle.org and we are proud to announce a winner from our very own Angelman community!! WWW.ANGELMANTODAY.COM
JULY / AUGUST 2014
Two years. Brilliant minds.
Endless potential.
The Joseph E. Wagstaff Postdoctoral Fellowship leads the way to a brighter future for Angelman syndrome. Joseph E. Wagstaff was a pediatrician, medical geneticist and leading researcher for Angelman syndrome. His contribution to the Angelman syndrome community was immeasurable; from the scientific discoveries he made in the lab to the hearts he touched in the community. In his honor, the Angelman Syndrome Foundation has established the Joseph E. Wagstaff Postdoctoral Fellowship; a two-year grant awarding $55,000 per year to young researchers interested in pursuing a career in Angelman syndrome research and discovering a cure for Angelman syndrome. Since the beginning, the ASF has been dedicated to bringing the brightest research minds together to improve the quality of life for individuals with AS and their families. Thanks to your support, The Wagstaff Fellowship is one more way that we’re leading the way to finding a cure.
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Summer Time Tips for Water Safety By Shannon Purcell, AngelMom to Kyle and Swim Instructor
We know Angels are fascinated with water, let’s have a fun and safe summer! WWW.ANGELMANTODAY.COM
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Touch supervision...be within arms length of your child at all times Arm floaties, noodles, inner tubes should not be considered safety devices under any circumstance. A coast guard approved life jacket is always recommended. CPR is a must and saves lives. Anyone with a seizure disorder should always be monitored with one on one supervision Make sure your pool is up to code and install a minimum of a 4 foot fence surrounds the pool on all 4 sides and separates the pool from the house. Be aware that drowning can happen even in very shallow water. Wading pools should always be emptied after each use. JULY / AUGUST 2014
The (Not So Invisible) Dangers in Your Home By Jocelyn Silverman
You can’t see them but they are there. You can touch them, smell them, and often times taste them, not that you want to. What are they? These are everyday household and personal products that we use to clean, disinfect, and deodorize. But what are they really? Depending on which ones you use, they are harmful products that can cause allergies, cancer, arthritis, sinus infections and the list goes on. But what ARE THEY REALLY?? They are the products that contain bleach such as Clorox for the floors/counters, chlorine such as Cascade Dishwashing Detergent, Triclosan found in antibacterial hand sanitizers, formaldehyde which is found in many of our personal products such as sunscreen, cosmetics, body washes, lotion, all of which are harmful to our health, our families’ health and the environment * What if there was an alternative? What if there was a safer, less expensive way to shop for these products? What if you didn’t have to worry if your child(s) ingested a cleaning product or better yet, what if your home smelled clean and fresh, but without the strong chemical odors? How about having products that are made in the USA? There is a way and the answer is YES to all of these questions.
These are just some of the ingredients that make up; Tough and Tender, Diamond Brite, Clear Defense, Sun Shade Sunscreen, Sei Bella makeup, Body Satin and Renew Skin Lotion and much more. For more information contact Jocelyn Silverman via email: LHJBS18@gmail.com
*Each year, over 1 million children are accidentally poisoned in their homes. 250,000 of these victims are hospitalized. 3,000 children will end up in intensive care. Dozens more will die. The amazing fact is, the most common substance to poison children is a household cleaner. Many of these products are considered safe! Think of your own home - you probably have dozens of bottles of cleaners, containing hundreds of chemicals. Could an accident happen in your home?
Say, “Yes” to products containing melaleuca oil, which is a natural healing agent, and other natural cleaning products such as biodegradable cleaning agents, water softening agents, plant derived products, and naturally derived enzymes.
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JULY / AUGUST 2014
Thank you!
A Big Thanks to all of the contributors that help bring you Angelman Today! Contributors: Ed Weeber Ph.D. Dr. Anna Larson Sybille Kraft Bellamy Claire Lerman All of the Angelman and Associated Foundations across the globe
Kathy Parker Jocelyn Silverman Pritzker Family
Angelman Today Supporters: Sleep Safe Bed www.sleepsafebed.com Linda Roberts www.youravon.com/lindaroberts Shari Caspert www.youngliving4specialneeds.com Jocelyn Silverman LHJBS18@gmail.com QR Code ID www.QRcodeid.org
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
JULY / AUGUST 2014
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IT’S TIME TO WALK! THANK YOU for your support of the ASF National Walk! We are on our way to reaching our $1.2 million fundraising goal in support of the AS community The Angelman Syndrome Foundation and the entire Angelman syndrome community are incredibly grateful for everyone who attended, donated to, and volunteered in support of the 2014 ASF National Walk. Nearly 10,000 individuals across the country participated in the 30 Walk sites this year, raising hundreds of thousands in support of AS research and direct family support.
A special THANK YOU to the 2014 Walk Coordinators! The 2014 Walk was possible because of the tireless, selfless efforts of our Walk Coordinators. Be sure to say thank-you to these folks! • • • • • • • • • • • • • • • • • • • • • • • • • • • • • •
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Kerry Burden, Alabama Peter SanGiovanni, Boston Michelle Fontenot, Breaux Bridge Kim Prenatt, Buffalo NY John Geraghty, Chicago Penny Jusko, Cincinnati Jennifer Harrison Bull, Columbia SC Donna Manhart, Dallas Susan Daniel, Danville VA Cindy Snyder, Denver Justin Grill, Grand Haven MI Leah Boice, Hartford CT Adrienne Foret, Houston Kathy Rokita, Indianapolis Grace Samson, Las Vegas Iris Faver, Long Island Mary Fasang, Los Angeles April Roche, Nashville Lizzie Sordia, Orlando Pam Peppers, Philadelphia Amy West, Phoenix Corrinna Bisceglia, Pittsburgh Crystal Harrison, Puyallup OR Tracey Kurihara, Sacramento Michelle Gilbert, Salt Lake City Susan Ravellette, San Diego Elisa Thelan, St. Louis Sara Schwarzrock, Twin Cities MN Devar Burbage, Washington DC Jami Northcutt, Wichita
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We are edging closer to our $1.2 million fundraising goal and need your continued support to reach that goal. Here’s how you can help: • Ask your employer about matching gifts. Many employers will match employees’ donations to non-profit organizations, and all you need to do is ask! • Host a fundraiser. With the Walk behind us, use creative ways to raise additional funds, such as bake sales, doing summer chores, dinner parties, and workplace potlucks. • Send 5 emails to 5 folks asking for $25. Ask those close to you if they haven’t already donated to do so in this smaller increment.
THANK YOU, Rockville Centre St. Patrick’s Parade During the ASF National Walk on Long Island, the Rockville Centre St. Patrick’s Parade committee presented its $30,000 donation to the ASF amid much fanfare. The ASF was chosen as one of three charities to benefit from funds raised during the St. Patrick’s Parade in March, and other events leading up to the Parade. The ASF is incredibly honored and appreciative to the Rockville Centre community, and all individuals who supported the Parade for their immense contributions in raising funds to support the AS community!
ASF Scientific Symposium in August The ASF brings together the best and brightest in AS research every year by funding the ASF Scientific Symposium, taking place August 14-16 in Cambridge, commencing the day after Harry Angelman’s birthday on August 13! The ASF embraces collaboration by bringing together researchers of other related disorders to drive further advancements in AS research, and the Dup15 Alliance is joining this year’s Symposium to broaden the scope of research discussed. Researchers will be discussing the current state of AS and Dup15 research to compare findings, discuss best practices, and work to move research closer towards clinical trials.
Funds raised during the ASF National Walk and other events support ASF-funded research grants and the Joseph E. Wagstaff Postdoctoral Fellowship. The Wagstaff Fellowship fosters the brightest and best young researchers in pursuit of AS scientific discovery, and the 2014 call for applications will be issued in the near future. Treatments resulting from the ASF’s $6.2 million investment in research help individuals with AS live better lives today, and that same investment has also discovered pathways towards a cure, leading to better lives tomorrow for individuals with AS but requiring ongoing financial support.
Sign-up to receive the ASF’s weekly email update to stay tuned with research, family support and other AS community updates!
View Previous ASF Educational Webinars on YouTube Nearly 2,000 have participated in the ASF Educational Webinar Series, which helps families and caregivers stay up-to-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. Click here to view past ASF Educational Webinars on the ASF’s YouTube Channel, including the most recent webinar by Dr. Art Beaudet who discussed how his ASF-funded research is making significant progress.
Angelman Syndrome Foundation
Educational Webinar Series
Individual Education Plan Bank…Time to Start Planning! Summer is here, and it is time to start planning ahead for next school year! An Individual Education Plan (IEP) is used in an academic setting for planning and performance evaluation with the educational team assisting your loved one with AS and your family. Development is personal to each individual, even more so
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with individuals with AS, and a well-crafted IEP can significantly help your loved one stay on track with his or her personal goals. The ASF IEP Bank is a platform to exchange IEP goals and objectives to assist you and your student’s educational team in planning her/his IEP. Click here to begin using the ASF IEP Bank.
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Spain Conference
“Let’s make the journey together”
This past 10th and 11th of May, Spanish Angelman Syndrome Association conducted a professional conference in Madrid under the title of let’s make the journey together for parents and professionals who deal with our children.
10-11th May-Madrid
The conference was a success both because of the level of participation as well as the professionals who were there and shared their knowledge.The association undertook the commitment of holding this conference during an assembly. We do believe that our expectations became self-fulfilling, both in participation as well as chosen issues. In addition, you can find some brief summaries of conference presentations. Videos will be available to anyone who is interested on our YouTube channel.
Genetic aspects of Angelman Syndrome. PhD Pablo Lapunzina, head of the Institute of Genetics and Molecular Medicine (INGEMM), the Hospital La Paz (Madrid), member of the advisory committee at Dravet Syndrome Foundation PDh. Pablo Lapunzina, made a complete introduction to Angelman syndrome reminding its characteristics and genetic mechanisms. He explained difficult concepts to grasp such as methylation and genomic imprinting with simples terms. Then, he went on to outline the genetic mechanisms that cause Angelman syndrome (deletion, paternal uniparental disomy, mutation in the UBE3A gene and clinical cases), he also talked about the occurrence of each one. He spoke openly about diagnostic techniques that are being currently used to confirm Angelman syndrome. To conclude, he delved into the key themes: sleep disorder. He recommend us to create a safe sleep zone and the measure that we should take to treat such disorders.
Treatment of behavioral disorder related to Angelman Syndrome, PhD Ignacio Sanchez Cubillo, clinical neuropsychologist of adults, children and youth in brain injury (Red Menni, Bilbao) and at the Balearic Institute of Psyquiatry and Psychology (Palma de Mallorca). Phd Sanchez Cubillo, neuropsychologist, tried to explain the concepts and basis ideas that parents must understand in order to bear in mind the current behaviour that we notice with our children. Behaviour always has a reason, they pursue an objective (attention, power, revenge, etc…) and we need to figure out these objectives in order to understand their behaviour, at the same time we will be able to modify misconduct. According to Pdh. Sanchez, it is essential to analyze in depth the context of behaviour that needs to be corrected. For that reason, it is necessary to take into account what happened before and during the misconduct and value our reaction to it. The behaviour of our children will be modified when we modify our reaction to such conduct. This is why it is essential to know if our reaction was correct or not. During his presentation, Pdh Sanchez analyzed and explained the guidelines you should follow with real cases.
Introduction to PECS workshop PhD Sonia Vilatela Verdes, speech therapist and managing director at Pyramid Educational Consultants – Spain (www.pecs-spain.com).
Sonia Vitatella Verdes, introduced us to picture exchange communication system (PECS). The first thing that she
explained to us is that we are not always using PECs when we are using any king of images, it is essential a picture exchange among users with a clear feedback intention. PECS starts teaching how to carry out spontaneous requests, and then to add additional communicative functions such as answer questions and comment. PECS has 6 phases: •PHASE I: how to communicate. The child is trained to initiate communication, with one picture at a time (non discrimation) •PHASE II: distance and persistence. Aid and support are progressively eliminated. •PHASE III: Discrimation. The child learns to select the appropriate picture (simple discrimation). Then, he/she learns conditional discrimination. •PHASE IV: the child learns to construct simple senteces by using expressions such as “I want…” •PHASE V: the child is taught to respond to the prompt: “what do you want?” •PHASE VI: the child is taught to make comments about what they see, hear,etc. Sonia spoke about the importance of making generalizations in every possible context: family, school, etc. When epilepsy is only a part of the clinical case: advances and challenges in the treatment of drug-resistant epilepsy, PhD Ana Mingorance, head of Techonology and Innovation at Dravet Syndrome Foundation, she works in Brussels as specialist in epilepsy, Alzheimer and Parkinson diseases. Dr. Ana Mingorance, analyzed in depth the various types of epilepsy and the incidence each one has. According to her, drugs are progressing rapidly to control seizures, although it is still unknown what causes the seizures. She commented on the fact that some kind of epilepsies cannot be controlled with drugs. Numerous parents asked about the characteristics of the seizures experienced by their children such as fainting, convulsion and possible solutions to these problems. According to Mingorance, it is very important to spend money on epilepsy research and the search of new drugs which can help to control seizures and the effect that they have on children. ROUND TABLE: At the end of our Professional Conference we had a round table, exclusively parents of children with Angelman syndrome. The aim was to create a space in which everybody can talk about concerns, share experiences and worries. Several issued emerged during the topic, including sleep disorders. We discussed and raised issues about routines, whether it is important or not to establish and keep routine associated with bedtime. We also talked about the options that each family has selected for their children: sleep alone in a room or share the room with his/her parents, end up with him/her when he/she wakes up, etc. Sphincter control was has also been much discussed how to teach children to use the toilet and remove diaper at night. We also share some tricks to make daily life easier, for instance get kids to wear their glasses, collaboration during bathtime, dress, undresses, ect… We could have stayed talking for a few hours; the time seemed too brief for too many things that we wanted to share. It was a great group therapy group which helped to bring emotions to the surface
The two-day event was recorded also and it is available to anyone interested on our Angelman Syndrome association youtube channel.
http://www.youtube.com/user/SociosAngelmanASA
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Eva’s Journey With Seizures And What Her Mom Is Doing About It By Claire Lerman On the 28th June 2013 our beautiful little 16-month-old Eva was diagnosed with Angelman Syndrome. Just 4 months after her diagnosis Eva started with epilepsy and has been in & out of the hospital numerous times. All the medications we were given completely failed to control Eva's seizures. We had read about something called a Ketogenic diet & we were desperate for Eva to be able to try this as a form of medication. After battling to get consent to go onto the diet we eventually received our neurologist's consent. Eva started the diet on the 4th March 2014 at which point her seizures had ramped up to a level where she was having them every minute of every day. Amazingly within 48hrs of starting the diet they stopped completely! We have not seen any seizures in the past 3 months! Our lives have been transformed & we hope and pray that it continues.
Claire is so passionate about the success that Eva has experienced on the Ketogenic she has created a facebook page to document Eva’s Journey. It is her goal to share with families that they too can give it a try to see if it will work for their child. Check it out at: www.facebook.com/pages/Evas-Ketogenic-Angelman-Journey
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JULY / AUGUST 2014
10% of your order donated to the Angelman Syndrome Foundation AVON – IT LOOKS GOOD ON YOU DISCOVER THE AVON DIFFERENCE
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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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JULY / AUGUST 2014
New SleepSafe Manual Crank Safety Bed Now Available! 866-852-2337 www.SleepSafeBed.com
Dr. Anna Larson: A Life-Changing Encounter Leads To A Lifetime’s Inspiration We’ve all heard stories about unexpected encounters that change people’s lives in profound ways. While not all of us have experienced that kind of event, Dr. Anna Larson is one who has. It came when she was applying to medical schools. A friend mentioned that a couple she knew was seeking a caregiver for their son, Jake Pritzker, a young adult with Angelman syndrome (AS) living in St. Paul, Minnesota, and Anna accepted the task. Once she started working with Jake, it helped focus her future plans on specializing in pediatric neurology and in particular, epilepsy and AS. It is a path she is still pursuing, though her accomplishments are already quite impressive.
Today, as a recent graduate of the University of Minnesota Medical School, she is preparing to start a residency at the prestigious Massachusetts General Hospital, where she will work with Drs. Elizabeth Thiele and Ronald Thibert, leading Angelman Syndrome Foundation (ASF)-funded researchers and AS clinicians, and members of the ASF Scientific Advisory Committee. In fact, she previously had a chance to assist in research at Mass General while in medical school. That work, too, was inspired by her time with Jake. “We grew very close,” Anna said. “Being able to have Jake in my life before and during medical school was incredibly important to me. The chance to spend time with him was always very grounding and helpful to me because it expanded
Continued…. my focus from flash cards and exams to the people I wanted to care for.” Although fond of science throughout her early years and during her undergraduate studies in chemistry at Carleton College, Anna had been unsure of her precise path for the future. “Some kids grow up knowing they are going to be, say, a cardiothoracic surgeon for sure,” Anna said. “But I didn’t know what kind of doctor I was going to be. Caring for Jake and learning about him and AS was fundamental in terms of helping me find my path in pediatric neurology.”
Anna’s inclination toward a medical career may even have had its earliest roots in her childhood. When she was in grade school, she took piano lessons in a neighboring town. Her dad drove her to the lessons, and on the way home, because he was a pastor, they would often go to the hospital to visit patients. “I have such strong and positive memories of that, of being at the hospital and being comfortable with my dad there. I think in some ways that was an important piece for me, too. In high school, I also had a phenomenal biology teacher who was very inspiring for me in many ways and very much helped me find my stride in science.” Anna’s work with Jake has also led to an active role with the ASF. “I was very, very lucky,” she said. “When I first met the Pritzkers, Fred was president of the ASF. I started working with Jake in the summer of 2006, and I was able to go to the ASF Biennial Conference in St. Louis in 2007. “I met a lot of families and heard incredible talks while there. Later, while conducting research at Mass General in 2011, I attended the ASF Conference again in Salt Lake City and had the opportunity to present research at the ASF Scientific Symposium and during the Conference.” With nearly two-dozen publications and presentations to her credit, Anna’s body of research is already impressive.
“Some of our most exciting research has focused on the efficacy of the low-glycemic-index treatment/diet (LGIT) in AS,” she explained. “LGIT was developed by Dr. Thiele and dietician Heidi Pfeifer at Mass General and is a modified version of the ketogenic diet, which is a very lowcarbohydrate diet that’s effective in seizure management for some patients.” “Another important project looked at adults with AS. We conducted an interview series with parents and caregivers of adults and adolescents over the age of 16 by phone. Then we compiled those results and presented them at conferences. Now we are in the final stages of publication of those results, which are currently in peer review. This is the project that was most inspired by my work with Jake.” Of her day-to-day work with Jake, Anna said, “When we are together, we organize his daily schedule. He’s involved in his community with a group called Highland Friendship Club. It’s a wonderful organization for young adults both with and without disabilities for social inclusion and involvement in community. They do volunteer work in the area and have fitness classes, art classes, cooking classes and weekend movie night. We often spend time with his friends. We have meals together and exercise together, too.” Anna recalls one particular day when she took Jake to visit his grandfather, who was in a nursing home at the time. The staff had set up a balloonvolleyball net in the dining room and divided residents and guests into teams. “Jake was the team captain,” said Anna, “and he was so into the game! It was a really special day for me.” Anna reports that Jake, now 29, is doing quite well. And she believes the future holds promise for individuals with AS. “I think it’s a really exciting time, a very hopeful time in history,” she said. “We’re continuing to learn more and more about the neurogenetics of AS, and seeing the work of the ASF is phenomenal in terms of
research funding and supporting individuals with AS and their families directly. The research and the energy around research in AS continues to build in many ways due to the support and focus of the ASF.” As for her own future, Anna is eager to begin her residency at Mass General. It will take five years, the first two of which will focus on general pediatric care. The following three years will be spent in the neurology department. At the end, she will be board eligible in both pediatrics and neurology. “After my residency, I intend to pursue an epilepsy fellowship to become a specialist in epilepsy care,” she said. “I am interested in working in an academic center, potentially in the future to be involved in teaching. For my clinical practice, I’m interested in the possibility of being a caregiver for kids over time. It’s a real honor and privilege that child neurologists often have, working with kids as they grow up. I hope to have a joint focus on both clinical care and clinical research. That’s the dream anyway!” That dream of Anna Larson’s continues to come closer to reality. As she embarks on her residency at Mass General, there is little doubt that the inspiration she found in Jake Pritzker will stay with her throughout her career. “I look back at this experience as defining my dedication to pediatric neurology,” she said. “Through Jake, I have found my passion.”
Books Recommended by Parents
The Latest Research for Angelman Syndrome By Edwin J. Weeber, Ph.D. Learn Mem. 2014 Jan 16;21(2):98-104. doi: 10.1101/lm.032375.113. Activity-dependent changes in MAPK activation in the Angelman Syndrome mouse model. Filonova I1, Trotter JH, Banko JL, Weeber EJ. Author information Abstract: Angelman Syndrome (AS) is a devastating neurological disorder caused by disruption of the maternal UBE3A gene. Ube3a protein is identified as an E3 ubiquitin ligase that shows neuron-specific imprinting. Despite extensive research evaluating the localization and basal expression profiles of Ube3a in mouse models, the molecular mechanisms whereby Ube3a deficiency results in AS are enigmatic. Using in vitro and in vivo systems we show dramatic changes in the expression of Ube3a following synaptic activation. In primary neuronal culture, neuronal depolarization was found to increase both nuclear and cytoplasmic Ube3a levels. Analogous up-regulation in maternal and paternal Ube3a expression was observed in Ube3a-YFP reporter mice following fear conditioning. Absence of Ube3a led to deficits in the activity-dependent increases in ERK1/2 phosphorylation, which may contribute to reported deficits in synaptic plasticity and cognitive function in AS mice. Taken together, our findings provide novel insight into the regulation of Ube3a by synaptic activity and its potential role in kinase regulation.
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Synopsis: Nearly all research looking into the molecular changes in the brains of the Angelman syndrome mouse model examine the brain in a static condition. Brain chemistry is incredibly difficult to research and in order to measure differences in the AS model versus nonAS model it is often studied in brains removed from anesthetized animals and quickly put in cold solutions to stop any biochemical activity. In this study, memory formation was induced and then biochemical changes were determined. They find that Ube3a protein is not stable, but changes in the brain following neuronal activation from both maternal and paternal genes! Also, a main enzyme called extracellular regulated kinase (ERK), known for years to be highly involved in memory formation, shows reduced activity following memory training. These studies show that there may be significant changes in the AS mouse brain that have yet to be identified under neuronal activity conditions, including changes in Ube3a gene expression.
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Angelman Research Cont’d Cell Rep. 2013 Aug 15;4(3):405-12. doi: 10.1016/j.celrep.2013.07.005. Epub 2013 Aug 1. Genetic reduction of the α1 subunit of Na/K-ATPase corrects multiple hippocampal phenotypes in Angelman syndrome. Kaphzan H1, Buffington SA, Ramaraj AB, Lingrel JB, Rasband MN, Santini E, Klann E. Author information
Abstract: Angelman syndrome (AS) is associated with symptoms that include autism, intellectual disability, motor abnormalities, and epilepsy. We recently showed that AS model mice have increased expression of the alpha1 subunit of Na/K-ATPase (α1-NaKA) in the hippocampus, which was correlated with increased expression of axon initial segment (AIS) proteins. Our developmental analysis revealed that the increase in α1NaKA expression preceded that of the AIS proteins. Therefore, we hypothesized that α1-NaKA overexpression drives AIS abnormalities and that by reducing its expression these and other phenotypes could be corrected in AS model mice. Herein, we report that the genetic normalization of α1NaKA levels in AS model mice corrects multiple hippocampal phenotypes, including alterations in the AIS, aberrant intrinsic membrane properties, impaired synaptic plasticity, and memory deficits. These findings strongly suggest that increased expression of α1-NaKA plays an important role in a broad range of abnormalities in the hippocampus of AS model mice.
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Synopsis: The axon initial segment (AIS) is an area of the neuron that controls whether that neuron fires or not. Synaptic activity has to be coordinated in order to depolarize the neuron to a threshold that allows the neuron to fire and give input onto another neuron. This is the basics of how signals from your visual cortex (reading this sentence) is processed and determined if it is of importance to have this become a longlasting memory. This highly coordinated process relies on the synapse of course; however, the outcome of synaptic activity is the firing of activated neurons. This is one of the first studies to measure differences in the AS mouse model at the AIS and find increases in a protein called α1-NaKA, which is a sodium / potassium ATPase. This protein controls the excitability of the neuron. This paper not only describes a seminal finding in a potential therapeutic target outside the synapse, but also fundamentally changes how we see the global effect of Ube3a deficiency.
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Healthy Fats
GF
Gluten Free
Ingredients: -Avocado -Can of Tuna (in water or Olive oil) -Relish (fine chopped pickles) -Olives
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JULY / AUGUST 2014
Hello Summer!
“True health starts with fresh fruits and veggies” Hello Summer!! By Sybille Kraft Bellamy Summer is the perfect time to enjoy seasonal fruits and vegetables.
The LGIT diet is a healthy diet when a high diversity of good quality products are used. No “strange” food! Only real natural food without packaging! Our family, like most of the families who have an individual following the LGIT, eat low glycemic food. The principal difference is the modification of the fat ratio. Max has a higher fat ratio in all his meals in order to obtain the effects of the LGIT. Since mid spring, we have been able to find great fruits and vegetables at very reasonable prices. Vitamins and minerals are essential to our health and WWW.ANGELMANTODAY.COM
critical for our developing children. The best way for our body to metabolize vitamins and minerals is to have them in their natural form and not synthetically. Pills will never replace a healthy diet. Everyday Max drinks a freshly prepared raw vegetable juice with carrots, cucumber, spinach, mint and olive oil. He drinks about 4oz just before his snack. It stimulates his bowel movement and triggers his appetite. The list of fruits and vegetables for the LGIT is very large and covers most of the regular products we should all have in our kitchen, nothing out of the
ordinary! I will never stop insisting of the amazing effects the diet has on Max’s health. This winter was long and very cold. Unfortunately, Max got quite sick at the end of it, contracting the flu, strep and mononucleosis (basically simultaneously). He was very tired he did have very small amount of medication to help him. He was definitely under the weather but we were not scared about his condition. We had no hospital trips and very little stress. His mood was excellent, he did great at school (only out four days) and was sleeping more than usual.
He is a trooper and a warrior because he has the good weapons to fight! JULY / AUGUST 2014
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