Angelman Today 2018




Digital Edition

Resources | Research | Inspiration

We All Deserve A Respite Break

Parents Bookshelf

Back to School Products

CONTENTS NEWS 3.

Editor’s Letter

4.

KayserBetten Bed for Special Needs

5.

November is Epilepsy Awareness Month

8.

Bookshelf for Parents and Caretakers

9.

Angelman Syndrome Communication, Education, and Related Considerations by Stephen N. Calculator

10. Great Products for Back-to-School

KayserBetten - Beds for Special Needs

12. The Ultimate Amazon Special Needs Shop 13. Angel Sense - Safety GPS tracker 15. #LifeWithAnAngel 25. If I Need Help (Safety Product and Special Needs Registry) 27. I love someone with Angelman Syndrome t-shirt 28. The History of Angelman Syndrome 29. Contributors

Respite care allows your loved one to have a break from their everyday routine and have fun while you do the same. Pg. 6

ANGELMAN AND ASSOCIATED FOUNDATIONS 6.

Angelman Respite Centre in Canada

14. Global Angelman Syndrome Registry 16. The Angelman Syndrome Foundation 20. Association Tunisienne des Syndromes Angelman 26. The Angelman Respite Centre - Quebec Canada 30. Our Partners

ANGELMAN TODAY | 2

EDITOR’S LETTER

Welcome to another edition of Angelman Today!

I am so excited about this issue. I truly love that social media has enabled us to connect with Angelman families worldwide, to find out what similarities and differences our lives hold. Thanks to Instagram, this month I met an Angel family from Japan with an adorable little boy named Ricky, and have had the opportunity to speak with his mother, Saori several times. She has a very interesting story which she has agreed to share with us all in this edition! I really related to her story and think you will too.

This month I also wanted to cover one of the most commonly requested topics that parents want more information on: respite. Canada is blessed with an Angelman Syndrome Respite Centre, and they have been gracious enough to send us an overview of their services, which you can read about on page 18.

And…. I am still working on a big reveal and will announce details very soon. Make sure you stay tuned to our social media for the announcement.

Next month we will have an article for those in the US and provide some resources and helpful information on how to go about applying for benefits.

This is our goal at Angelman Today. We will continue to bring you practical resources that can help you, not someday, but right now.

Lizzie Sordia Editor-in-Chief Email: Lizzie@angelmantoday.com Twitter: @LizSordia Facebook: @angelmantoday Instagram: @angelmantoday ANGELMAN TODAY | 3

 

November is Epilepsy Awareness Month!

Epilepsy Facts: The majority of individuals with Angelman Syndrome suffer from epilepsy with the potential to become life-threatening.

1 in 26 People will develop epilepsy during their lifetime.

1 in 10 People will have at least one seizure during their lifetime.

1 in 3 People with epilepsy live with seizures that cannot be controlled by any available medical therapy.

We all deserve a break...

With all the challenges and everyday struggles of life, we can sometimes find ourselves overwhelmed. It is necessary to take a well-deserved break once in a while. Respite care allows your loved one to have a break from their everyday routine and have fun while you do the same.

“So much more than just a weekend” Many specialized programs and activities for your family member are offered. Guests have the opportunity to develop new skills, try something different, meet friends or just relax.

The Respite Center offers opportunities for socialization, stimulation and specialized programming to acquire independence.

This service can provide caregivers and families with time for themselves, to recover from fatigue and stress.

Research suggests that respite care has a positive effect on the caregiver and guest. Since the birth of Respite care in the 1960’s, more and more families have used it for its benefits, which include: support for families, strengthening of family relationships, enhanced coping and the prevention of burnout.

Who can benefit from respite?

For children, teens and adults with an intellectual disability and/ or autism.

How do I know if Respite care is for me?

If you feel that your family could benefit from having a break. If your loved one would benefit from developing independence in a fun way.

Respite care may be something to consider.

What services are offered? ✓ Creative Arts & Arts and Crafts ✓ Gross and Fine motor activities ✓ Swimming & Exercise programs ✓ A sensory room ✓ Cooking, Music and more!

ANGELMAN TODAY | 6

Empower – Encourage – Support – Care

Although you take great joy in caring for your loved one, you may find yourself overwhelmed at times. Respite is about giving yourself a break from the physical and emotional stress you may face, not a break from the relationship you have with your loved one.

It allows you to recharge so you can better take care of yourself and your loved one.

Respite care is about strengthening your family.

DID YOU KNOW? Families that use respite report a higher quality of life, greater feelings of hope and a better ability to cope.

14400 Boulevard Gouin Ouest Pierrefonds, Quebec H9H 1B1 www.angelman.ca

Respite care can:

Respite is full of benefits!

-Lower caregiver stress/keeps you healthy -Increase the social network of both you and your child.

-Allow for a change of pace for everyone -Improve the functional ability of your child and encourage independence.

-Increase time and leisure with your significant other or other children.

-Support the family unit, allowing people to stay at home longer.

-Provide opportunities for socialization and stimulation and to practice daily living skills in a different environment, with different people.

-Create friendships, nourish social experiences

Respite Center

 

Bookshelf for Parents and Caretakers

Angels and Idols

Angelman Syndrome: Communication, Educational, and Related Considerations

The Potty Journey: Guide to Toilet Training Children with Special Needs

The Ketogenic and Modified Atkins Diets for Epilepsy

Jesus, Let's Talk

Game Changer

Views From Our Shoes: Growing Up with a Brother or Sister with Special Needs ANGELMAN TODAY | 8

Angelman Syndrome Communication, Educational, and

Related Considerations by Bentham Science Publishers Authored by Stephen N. Calculator Stephen Calculator was appointed to the ASF Scientific Advisory Committee in 2008 and most recently selected as a member of the Communications Advisory Committee.

Dr. Calculator is Professor and Chair in the Department of Communication Sciences and Disorders at the University of New Hampshire. He earned his doctorate in Communicative Disorders from the University of Wisconsin-Madison in 1980. Dr. Calculator has published and lectured extensively in the areas of augmentative and alternative communication (AAC) and inclusive education for students with severe disabilities, drawing upon his ongoing experiences as a consultant to numerous schools and other agencies in the USA and beyond.

His consultations have included work with more than 75 children with Angelman syndrome, providing assistance to families and other team members in developing educational and communication programs.

Dr. Calculator developed the Enhanced Natural Gestures system, an evidence-based approach for developing a communication repertoire in individuals with AS. Most recently he published hid edited book, “Angelman Syndrome: Communication, Educational, and Related Considerations.”

NOW AVAILABLE ON KINDLE! Get your Kindle copy here.

Get your Paperback copy here.

https://www.amazon.com/kindle-dbs/hz/signup? linkCode=ur1&adid=1PP7C2TGHB7NXJPZ8XF5&_encoding=UTF8&tag=wwwangelmanto20&*entries*=0&creative=0&camp=0&*Version*=1

Share with your child’s teacher.

ANGELMAN TODAY | 9




Here are a few of the products that are available on the Ultimate Amazon Special Needs Shop to help you get the kids ready for Back-to-School!

Polo Bodysuit for Boys or Girls Special Needs Clothing

Gyenno Steady Spoon with Smart Lift Kit

Chewy Tubes

Sensory Vest

swing

Small PECS Communication Book

swing

Sensory Weighted Lap Pad

ANGELMAN TODAY | 10

Our Angel Ricky - Baby Model from Japan

By Saori Appleby

Ricky was born in May of 2016. He was diagnosed with Intrauterine growth restriction (IUGR) and a minor Ventricular Septel Defect (VSD) but I wasn’t worried about them much because I was a pediatric nurse and I knew they were not a big problem.

To us, when he was born he was so perfect and nothing was wrong. But when we took him home to start our new life I began to have doubts. He was very noisy, had weird sounding breathing, difficulty trying to drink milk, projectile vomited all the time, low muscle tone, always crying like mad, 4-6 hours sleep total a day, and didn’t like being held.

My mum said he had cerebral palsy but I did not believe it. I was so confused because he was my first baby, but I was sure he was not okay, I definitely knew something was wrong. We started to go see a doctor at the children’s hospital, but the doctor dismissed my concerns, saying there was nothing wrong. He was just slow. Eventually when Ricky was 18 months old the doctor said Ricky had something but he didn’t know what, and advised me to raise him as a child with severe Down syndrome.

I was so shocked because no one knew what was wrong with Ricky and he was being categorized with the wrong disorder, so I asked the doctor to run a genetics test. The doctor said we can test but needed to wait another six months just to have the initial appointment. This was nightmare for us.

It was then that my husband looked on the internet and found out about Angelman Syndrome. Suddenly everything clicked. The description was so Ricky, it looked like a text book about him.

Ricky was finally officially diagnosed with AS when he was 23 months old, so our journey has just started. AS is not easy but Ricky always gives us small happiness as he grows up little by little. He always smiles so I smile. I smile and he smiles. I can’t ask for anything more (ok, sometimes I ask for more).

Ricky has been modeling since he was 4 months old. I enjoy this time. It is truly a gift because only a few kids can do it. It is something that Ricky can do alongside healthy kids, and there is no difference. It is also like his growth record for me as I can see his development with each photoshoot.

I would love it if the media would take note that that there is a boy with Angelman Syndrome who is a model. In Japan, it seems no-one knows what AS is. Like everyone else we are hoping for a cure for AS in Japan. The first step to let people know that there is a disorder called Angelman Syndrome.

The Ultimate Amazon Special Needs Shop  

Angelman Today has received an exclusive invitation to create a shop on Amazon!

We filled it with so many products suggested by parents and caretakers.

The shop includes Sensory Toys, Support for Communication, Feeding Tools, Safety Products, Adaptive Clothing, Books, and many more products to help with daily life.

https:// www.amazon.com/dp/ B00DBYBNEE? _encoding=UTF8&adid =0Y9MEZQ15H6GCNB X0SCA&camp=224849 &creative=511289&link Code=ur1&primeCamp aignId=prime_assoc_ft &tag=wwwangelmanto20

This shop will be updated with new products so check back often. If you would like to suggest a product please leave us a comment on our Facebook page or email us at Lizzie@angelmantoday.com ANGELMAN TODAY | 12

Back to School Safety Keep your child safe & gain peace of mind with AngelSense

Learn More

http://shrsl.com/sejj

ANGELMAN TODAY | 13

It is hard to believe that it has been a year since the Global Angelman Syndrome Registry was launched. This project is now the largest ever Angelman syndrome study to date, with over 450 participants, call us greedy but we want more. There are over 7000 people that “like” the Angelman Today Facebook page, we know that we can increase these numbers drastically and we want to take some time to explain to you why you should care and how your participation can shape Angelman syndrome research right now.

To borrow from Rare Disease advocate Sharon Terry in her Ted talk, “Researchers don’t share. People told us you can’t herd cats. Well, yes you can, if you move their food. DNA and clinical data is the food.”

The story of your individual with Angelman syndrome is extremely powerful, it is even more powerful when combined with stories around the world. Investigators save huge amounts of time in the initial stages of projects without the need to collect information to test questions, get answers and ask more questions. To develop research projects, recruit for clinical trials and even measure their effectiveness. It’s a win-win, researchers don’t need to find funding for investigative work and we don’t have to fundraise for that to happen!

The registry is already working! Research applications and requests to share online studies have been sent to registry participants. FAST have had grant applications where the intended recruitment is through the patient registry which is proof of how valuable a tool this is.

No one can access your identified information without your permission If you grant permission, you can be emailed about participating in online studies, research projects and clinical trials. The people doing this study will NOT be given your name, you will be contacted by the registry curator to ask your consent again first where they will give you contact details or links to find out more.

If you are reading this and saying “ I really should do this one day”, here is a 3 step guide to getting your entry off the ground quickly. (these are only guidelines; you can do this quicker) 1. Right now - Visit angelmanregistry.info … what are you waiting for? Click on “Register now” and It will take you two minutes to register for a login. (you do not have to nominate a supervising clinician at this stage, you can do that later) 2. Schedule an hour within the week – Make sure you won’t be interrupted, ideally when kids are at school or in bed. Get a notepad and pen.

Systematically work through the registry modules.

There are a lot of questions, you don’t have to do them all I one hit. When you stumble and can’t remember a date, or its asking to upload results, make a note of what it is so that you can come back in step 3.

3. Diarise to hit social media (within 14 days from today). I’m serious! The nature of social media means we often celebrate our children’s achievements, but also their struggles. Grab a pen and write some dates down – milestones, seizures etc. (you might also have a baby book, or a file with dates and test results). This should help with the lingering questions you had at step 2. The neurology module is difficult, whilst a lot of us have pseudo degrees in neuroscience the terminology has recently been updated, if you have issues you can contact the registry curator curator@angelmanregistry.info (she is based in Australia so depending on the time of the day you may not get an immediate response), or talk with your health professional.

We are aiming to hit 1000 by the end of 2017 – will you help us build this amazing Angelman resource and speed up our journey towards a cure? Visit angelmanregistry.info

#LifeWithAnAngel

Don’t underestimate me. I know more than I say, think more than I speak & notice more than you realize.

ANGELMAN TODAY | 15

In August, the world’s leading Angelman syndrome research symposium attracted more than 150 of the most brilliant minds in Angelman syndrome research: scientists, clinicians, post-docs, and more. Two full days of world-class scientific, translational, and clinical presentations shared unpublished work that is accelerating therapeutics for AS with the ultimate goal of finding a cure.

Click here to read some of the key insights that attendees gleaned from the Angelman Syndrome Foundation / Dup15q Research Symposium.

“Brilliant AS minds are truly coming to this meeting to learn, network and collaborate, and they are sharing work that is yet unpublished—but highly advanced and important to finding treatments and a cure for AS. This includes the sharing of information from the Angelman Syndrome Clinics, which is impressive data. The collaboration was evident in a nearly all presentations, and it is truly amazing.

I am so grateful for where we are, and for where we are going!”

- Dr. Stormy Chamberlain, ASF Scientific Advisory Committee Chair

www.Angelman.org | (800) 432-6435 | Int’l (630) 978-4245 | info@angelman.org

May 18, 2019 The ASF Walk has funded $9.5 million in AS research and $4.7 million in direct family support services.

Mark your calendar for next year now!

ANGELMAN SYNDROME CLINICS: HELPING FAMILIES AND ADVANCING RESEARCH Finding specialized care for your loved one with Angelman syndrome can be one of the greatest challenges you face. The Angelman Syndrome Foundation had the vision years ago to help alleviate this challenge and provide individuals with AS with the specific medical care that AS requires. But the vision didn’t stop there—the ASF AS Clinics would also facilitate future clinical trials by building the patient base required to conduct those trials.

Today, the ASF AS Clinic Network is comprised of eight locations that were established in partnership with leading medical and research institutions across the country, with more to come in the future. At the clinics, AS experts provide individuals with AS, from birth through adulthood, the comprehensive medical care they need throughout their lifetime.

What is very exciting is that the clinics are developing standards of care in AS, providing local physicians with the proper information and care that people with AS need. This is possible because of the clinical experience and collaboration between all clinics in the ASF AS Clinic Network. Once complete, the ASF will publish these standards of care and make them available for download on the ASF website.

AS Clinical Care

+ + ASF AS Clinic Network Funding = AS Clinical Research

Outstanding Care and Outcomes Today and for the Future!

“The ASF AS Clinics have always been a part of the Angelman Syndrome Foundation’s plan to provide families with exceptional medical care and provide the latest treatments, and to support clinical trials. The ASF AS Clinics are a critical piece of our mission of finding more treatments and ultimately a cure for AS. We are so incredibly thankful to our donors for making the ASF AS Clinic Network possible!”

- Eileen Braun, ASF Executive Director, AS mom

www.Angelman.org (800) 432-6435 | Int’l (630) 432-6435 978-4245 info@angelman.org www.Angelman.org (800) | Int’l (630) 978-4245 | info@angelman.org

FOUR NEW ANGELMAN SYNDROME CLINICS OPEN IN 2018 Thanks to the incredible generosity of donors, the ASF opened four new AS Clinics this year:

Angelman Syndrome Clinic at Vanderbilt University Medical Center, Nashville

Angelman Syndrome Clinic at NYU Langone Health

2200 Children’s Way • Nashville, TN 37232 (615) 936-8866

223 East 34th Street • New York, NY 10016 (646) 558-0800

Angelman Syndrome Clinic at Texas Children’s Hospital

Angelman Syndrome Clinic at Rush University Medical Center

6701 Fannin St., Wallace Tower, 16th Floor • Houston, TX 77030 (832) 822-0959

1725 W. Harrison Street • Chicago, IL 60612 (312) 563-6636

ASF AS Clinics Open Across the Country Boston, MA Massachusetts General Hospital

Chapel Hill, NC University of North Carolina, Chapel Hill

Chicago, IL Rush University Medical Center Houston, TX Texas Children’s Hospital

Nashville, TN Vanderbilt University Medical Center

New York, NY NYU Langone Health

Rochester, MN Mayo Clinic

San Diego, CA Rady Children’s Hospital

Presentation

des journees Nationales des Syndromes D’Angelman et de Rett

10 & 11 novembre 2018 Les journées nationales des syndromes d’Angelman et de Rett auront lieu à l’hôtel El Mouradi Hammamet.

Ces journées ont pour buts de :

1

Sensibiliser l’opinion publique et les pouvoirs publics aux maladies rares, à ces deux maladies et aux difficultés rencontrées par les patients et leurs familles.

2 3

Apporter des réponses aux familles concernant la prise en charge des personnes porteuses de syndromes d'Angelman ou bien de Rett * Sensibiliser les professionnels de santé au diagnostic et à la prise en charge Mettre en place une veille scientifique, suivre le développement et l’évolution de la recherche internationale et assurer la diffusion de l’information aux professionnels de santé.

4

Développer la recherche thérapeutique (précliniques et phases I et II) en collaboration avec l'industrie pharmaceutique. *Favoriser les coopérations européennes et internationales.

5

Améliorer l’accès au diagnostic et aux traitements des patients

Programme Samedi 10 Novembre 2018 *

Les Intervenants

www.congresangelmanrett-tn.org 08h30 - 09h15 : Accueil 09h15 - 09h45 : Introduction 09h45 - 10h15 :" Le syndrome d'Angelman en Tunisie: Particularités clinico-génétiques, difficultés et Oliver défis de la prise enChris charge" - M. Trabelsi

Arthur Beaudet, MD Professor and chair of molecular and human genetics at Baylor College of Medicine. USA

10h15 - 10h30 : Pause

@ @ @

Professor of Neurodevelopmental Disorders School of Psychology, University of Birmingham. England

@ @

Thierry Bienvenu PU-PH chez Cochin, Université Paris Descartes, Institut de Psychiatrie et de Neurosciences de Paris

@ @ @

10h30 - 12h00 : " Comportement, sommeil et communication dans le syndrome d’Angelman " C. Oliver 12h00 - 14h00 : Déjeuner

14H00- 14H30 : " Vue d'ensemble des maladies rares en Tunisie " N. Gouider-Khouja Martin Scheffner 14H3015H00 Full Professor of Biochemistry, Dept. of Biology, University of Konstanz, Germany

: " Les besoins etMathilde attentes Suc-Mellar des parents" G. Nguyen

15h00 - 15h30 :

Enseignante, formatrice et consultante en " Recherche génétique internationale " Communication Alternative et Améliorée (CAA), France

15h30 - 16h00 : Pause

Dominique Crunelle Orthophoniste et Docteur en

M. Scheffner sciences de l'éducation.

France

16h00 - 17h30 : " L'origine du syndrome d’Angelman: UBE3A Etat de la recherche " - A. Beaudet 19h00 : Diner pour les logés

* Dimanche Khouja 11 Novembre 2018 Neziha Gouider

Gerard Nguyen Hôpital Avicenne – Hôpitaux Universitaires Saint-Denis MECP2 Etat de laParis-Seine recherche "-

09h00 - 10h15 : " L'origine du syndrome de Rett : T. Bienvenu 10h15 - 10h30 : Pause 10h30- 11h30 : "Communication Alternative dans le syndrome d’Angelman et le syndrome de Rett : outils et objectifs." - M. Suc-Mella * 11h3012h30 : " Autour de l'oralité (l'alimentation, Bavage) " - D. Crunelle Aida Hassen Mediha Trabelsi 12h30 13h00 : " Syndrome de Rett: expérience Tunisienne et aspectsGénéticienne, medico-sociaux" Neuropédiatre -Institut National Mongi Ben Hmida Hôpital Charles Nicolle A. Hassen, I. Kraoua, I. Ben Youssef-Turki de Neurologie de Tunis de Tunis 13h00: Déjeuner

Professeur en neurologie Tunisie

Les Intervenants www.congresangelmanrett-tn.org

Arthur Beaudet, MD

Chris Oliver

Thierry Bienvenu

Professor and chair of molecular and human genetics at Baylor College of Medicine. USA

Professor of Neurodevelopmental Disorders School of Psychology, University of Birmingham. England

PU-PH chez Cochin, Université Paris Descartes, Institut de Psychiatrie et de Neurosciences de Paris

Martin Scheffner

Mathilde Suc-Mellar

Dominique Crunelle

Full Professor of Biochemistry, Dept. of Biology, University of Konstanz, Germany

Enseignante, formatrice et consultante en Communication Alternative et Améliorée (CAA), France

Orthophoniste et Docteur en sciences de l'éducation.

France

@ @ @ @

Neziha Gouider Khouja

Professeur en neurologie Tunisie

Aida Hassen

Neuropédiatre Institut National Mongi Ben Hmida de Neurologie de Tunis

@ @

@ @ @ @

Gerard Nguyen Hôpital Avicenne – Hôpitaux Universitaires Paris-Seine Saint-Denis

Mediha Trabelsi Généticienne, Hôpital Charles Nicolle de Tunis

Help keep loved ones who may wander SAFE.

Save 5%

on your first purchase using promo code: Angelman Today

www.ifineedhelp.com

The Sensory Therapy Box

Sensory fun for your child delivered to your door monthly. https://www.sensorytheraplaybox.com/

The Sensory Therapy Box

ANGELMAN TODAY | 26

Click here to order: I Love Someone with AS

T’s and Stickers Now Available!

Scroll down the site to see all of the product options.

Share your I ❤ someone with AS or Angel Warrior T’s with us The Rubio’s are sporting their T’s!!

ANGELMAN TODAY | 27

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.

Dr. Harry Angelman 1915 - 1996

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.

ANGELMAN TODAY | 28

CONTRIBUTORS

Editor in Chief Lizzie Sordia Assistant Editor Marilyn Kennedy Nutritionist Sybille Kraft Bellamy Additional Contributors Sophie Dubé

All Of The Angelman And Associated Foundations Angelman Syndrome Foundation

The Angelman Respite Centre - Quebec Canada

Sponsors

/AngelmanToday

/AngelmanToday

/AngelmanToday

If i Need Help www.IfiNeedHelp.org KayserBetten Secure Sleep Systems www.KayserBettenUS.com

/AngelmanToday

Angelman Today

STAY CONNECTED ANGELMAN TODAY | 29

Our Partners - International Angelman and Associated Foundations 


ANGELMAN TODAY | 23

Thanks for your support!

Please share Angelman Today www.AngelmanToday.com

Get social with us