Angelman Today 2019

 

Digital Edition

Resources | Research | Inspiration

Parents Bookshelf International Angelman Day

CONTENTS NEWS 3.

Editor’s Letter

4.

KayserBetten Bed for Special Needs

5.

February 15th is International Angelman Day

6.

I love someone with Angelman Syndrome t-shirt

7.

Bookshelf for Parents and Caretakers

8.

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

9.

KayserBetten - Beds for Special Needs

Leo Is My Angel - Cover Boy

11. International Angelman Day 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) 22. The History of Angelman Syndrome 23. Contributors

ANGELMAN AND ASSOCIATED FOUNDATIONS 14. Global Angelman Syndrome Registry 16. The Angelman Syndrome Foundation 21. Angelman Respite Centre in Canada 24. Our Partners

Parents Bookshelf is a list of great books to read about Angelman syndrome, health, nutrition, epilepsy and diet therapies.

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EDITOR’S LETTER

Welcome to a NEW YEAR and another edition of Angelman Today!

This new year has me filled with new ideas on better ways to serve our community.

My son Nathan is now 10 years old and I have learned so much. We have had so many challenges as to be expected but I have also had great success at stopping Nathan’s seizures, stopping his acid reflux, he no longer suffers from constipation and he sleeps ALL night!

This is not luck and he is not heavily medicated.

His body is understood and functions are being supported.

There are so many things that can be done right now to help our kids that no one is talking about.

I will be making some changes this year which will require me to stop publishing this flip through version of information. 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

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February is International Angelman Day! Symptoms of Angelman Syndrome: -Birth statistics - 1 in 12,000 - 20,000.

-Severe developmental delay.

-Happy demeanor -Lack of speech -Balancing issues -The majority of individuals suffer from epilepsy.

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 | 6

Bookshelf for Parents and Caretakers

Angelmans Syndrome: Causes, Tests, and Treatments

Healing without Hurting

Treating Epilepsy Naturally

Special Diets for Special Kids

Feed Your Genes Right

Ketogenic Diets: Treat Epilepsy and Other Disorders

Treatment of Epilepsy: Practical Implementation of Ketogenci therapy: ANGELMAN TODAY | 7

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 | 8

Leo was born on September 15, 2017 in Sabadell Barcelona. Leo from his birth always showed himself as a happy baby, smiling, very affectionate, he is eager to live new experiences and learn. Leo is very curious, adventurous, has a lot of strength and vitality, spreads love wherever he goes and towards his family and the people around him.

Everything went well until 6 months where in a medical review it was observed that his cranial perimeter was lower than what is considered normal. At that moment the worries began for their parents Oscar San NicolĂĄs and MĂłnica Saavedra. Leo underwent an x-ray to check the condition of his cranial sutures, observing that they were not closed. At 7 months Leo could sit alone, but arm movements appeared like a flutter when he was sitting. These were in Augment and his parents initiated different medical visits but no doctor could give the reason for these arm movements.

At 10 months Leo was admitted to Hospital TaulĂ­ de Sabadell Barcelona where he underwent an electroencephalogram and a genetic test.

On August 22, 2018, he was diagnosed with Angelman Syndrome. His parents had never heard of this syndrome and went into shock. Without time to lose the first thing they did, was to find information about Angelman syndrome, the state of the research and contact families with children suffering from Angelman syndrome. From the Leo diagnosis his parents detailed a work plan to improve the quality of life of Leo based on the following therapies: music therapy, physiotherapy, occupational therapy, swimming and osteopathy. In addition, Leo goes to a

Leo is my Angel Sabadell, Barcelona

nursery every day to be in contact with other children of his age. Leo works hard every day to improve himself and achieve his challenges.

Of course Leo on September 15, 2018 had his first big birthday party surrounded by his family because the Angelman Syndrome was not going to change the happiness of the family.

When all this began to work, his parents asked themselves, what else can we do for Leo and for Angelman Syndrome? On October 22, 2018 they decided to create the project #Leoesmiangel (Leo is my angel). A Facebook page and an Instagram account were opened to give visibility to the Angelman Syndrome and for Leo to be known in his city.

These accounts (Facebook and Instagram) had such an impact that their parents decided to create the non-profit Association, #Leoesmiangel to raise awareness of Angelman syndrome, raise funds to donate to research, raise funds for Leo therapies and help children with special needs. Some of the actions carried out by the association have been to make a graffiti dedicated to Leo and Angelman Syndrome (angel wings on a blue sky was the chosen drawing), 50 T-shirts of #Leoesmiangel have been sold and the proceeds have been donated to the Foundation for Angelman Syndrome Therapeutics, in addition, Angelman Syndrome has been made visible through interviews in local media.

Leo, his parents Oscar and MĂłnica together with the #Leoesmiangel Association will continue working to achieve their goals. They know that the road will not be easy but with love, Leo will achieve great achievements in his life. Monica and Oscar asked God for a son and he sent them an angel, Leo, a child full of love and affection, what more could you ask for?

 

Do you have an awareness campaign or fundraiser planned? Tell us about it and we will help you raise awareness about it on social media.

Professor Hans Von Puppet explains the history of Angelman Syndrome. https://youtu.be/kN3RVlypwb0

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.

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Saturday, May 18, 2019 More than 40 locations throughout North America!

Be a Difference Maker TODAY for AS by registering and fundraising for the 2019 Angelman Syndrome Foundation Walk. Your efforts will fund critical research and help families NOW. For more than 20 years, the ASF Walk has funded groundbreaking AS research and support services that directly help AS families. We must keep pushing forward to find effective treatments and a cure for AS that we know is possible, and we need YOU!

Register and fundraise today

www.Angelman.org/walk

Did you know? People who register early for the

ASF Walk raise an average of 70% more than those who register after March.

$25 : Early Bird Registration (1/4/19 – 3/18/19)

$35 : Difference Makers Registration (3/19/19 – 4/3/19)

Register BEFORE 4/3/19 to receive an ASF 2019 Walk T-Shirt!

This year you can only receive a “Difference Maker” ASF 2019 Walk T-Shirt if you register before April 3rd! No ifs, ands, or buts about it! Register today and make sure you get yours.

TM

www.Angelman.org

(800) 432-6435

Int’l (630) 978-4245

info@angelman.org

Research Symposium July 23 – 24, 2019 Family Conference July 24 – 27, 2019

Louisville Marriott Downtown

JOIN US

AT THE 2019 ASF RESEARCH & FAMILY CONFERENCE KNOCKOUT AS IN LOUISVILLE, KENTUCKY! AS families fight for their loved one with AS every day. What better place to gather than Louisville, the home of Muhammad Ali—the place where he started his fight. The gloves are off as we come together for interactive learning sessions, activities, and 1:1 opportunities to engage with AS experts and peers. Together we will all knock out AS!

Interactive Sessions & Workshops

ASF is in your corner. Join us for exciting rounds of interactive sessions and workshops! Topics will include: • AS research advancements and clinical trial updates • Technology, communications and AAC • ASF AS Clinic Network clinician presentations • Transition resources and support for adults with AS • “Appy Hour” drop-in sessions • Day-Long Sibling Workshops • 1:1 appointments with Family Resource Team members Full registration to the ASF Family Conference is FREE; families must cover their own travel arrangements.

TM

#knockoutAS

LEARN MORE at Angelman.org!

Are you ready to join the fight? Free registration begins mid-January and rooms are available at the Marriott Louisville Downtown.

CLICK HERE TO MAKE YOUR RESERVATION NOW!

APPLY FOR

SPRING AND FALL ASF CCK FAMILY RETREATS! ASF CCK FAMILY RETREATS ARE BACK! The Angelman Syndrome Foundation Family Retreat Weekends are FREE** for families to attend in Scottsville, Kentucky!

This year, there are TWO chances to join the fun:

2019 SPRING

ASF CCK Family Retreat April 5-7

2019 FALL

ASF CCK Family Retreat October 18-20

Space is limited – apply today!

It’s more than a camp – it’s a chance to enjoy a weekend of relaxation and fun with your whole family and families just like yours! If you and your loved ones are new to the ASF CCK Family Retreat experience, please click here to learn more.

Please keep in mind: • Children ages 5 and up can participate (including our children 18 and over)!

• Physician approval is part of the application process.

• Note your Angelman Syndrome Foundation affiliation for priority acceptance.

• **Accommodations at the retreat are covered, but families must cover their own travel to and from KY.

TM

Registration is even easier for returning ASF CCK Family Retreat families! Your application information was saved and only necessary parts will need to be updated.

SEE YOU AT CAMP!

For helpful tips to begin the registration process, TM

www.Angelman.org

(800) 432-6435

Int’l (630) 978-4245

info@angelman.org

CLICK HERE

TM

Research Focused on a

CURE 2019 is promising to be an exciting year for AS research! ASF-funded research is progressing into biomarkers and outcome measures, gene editing, gene therapy, small molecule treatments, and more!

In particular, two ASF-funded research grants were announced in 2018 that are leading the charge toward exciting advancements and discoveries.

The ASF funded Dr. Zylka’s pivotal Crispr/CAS9 technology to help find a cure for AS. ASF funding is also assisting Dr. Godler’s research to validate a new

tool to diagnose AS in the first few weeks of life. This will be critical to improving quality of life faster by allowing treatments to be administered right away.

You can Be The Cure and help support additional cure-focused research by joining the ASF Cure Club today. The Cure Club is a dedicated group of monthly givers who are passionate about finding a cure for AS. Click here to join the Cure Club today!

e r cu the

B CLU TM

WORLD’S LARGEST AS NEWBORN SCREENING – Dr. David Godler, Murdoch Children’s Research Institute in Melbourne Australia

CRISPR/CAS9 GENE EDITING TOOL – Dr. Mark Zylka, University of North Carolina – Chapel Hill

Help keep loved ones who may wander SAFE.

Save 5%

on your first purchase using promo code: Angelman Today

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The Sensory Therapy Box

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

The Sensory Therapy Box

ANGELMAN TODAY | 21

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.

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CONTRIBUTORS 


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

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

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