Angelman Today April 2018

 

Digital Edition

Resources | Research | Inspiration

Summer Traveling Tips Angelman Syndrome Foundation Walk 2018

Best Apps List

CONTENTS NEWS 3.

Editor’s Letter

4.

KayserBetten Bed for Special Needs

5.

Have Fun While Traveling This Summer

7.

Angelman Syndrome Communication, Educational and Related Considerations Kindle Book

8.

Swing into Summer and Shop For An Indoor/Outdoor Swing

KayserBetten - Beds for Special Needs

13. Ultimate Amazon Special Needs Shop 15. Summer Safety Tips and Products 16. #LifeWithAnAngel 17. If I Need Help (Safety Product and Special Needs Registry) 19. Best Apps List - Suggested by Parents 20. I love someone with Angelman Syndrome t-shirt 21. The History of Angelman Syndrome 22. Contributors

ANGELMAN AND ASSOCIATED FOUNDATIONS 9.

Angelman Syndrome Foundation

14. Global Angelman Syndrome Registry 18. The Angelman Respite Centre - Quebec Canada

Tips for Traveling. By Erin Bates Pg. 5

23. Our Partners

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EDITOR’S LETTER

Welcome to another edition of Angelman Today!

This time of the year is always so much fun for Angelman families! The annual Angelman Syndrome Foundation Walk #WalkforAngelman takes place in May and families gather together for the biggest fundraiser of the year! It is a day of fun and community. As a fellow parent I must say that it’s so nice to sit and talk with other parents that understand the daily challenges that we experience.

Immediately after Nathan’s diagnosis and I learned about the Angelman Syndrome Foundation Walk, I called them up right away and volunteered to host a site here in Orlando, Florida. It is such a great time and it really feels like a family reunion each year.

Spring and Summer will bring such nice weather we’ve gathered a variety of indoor and outdoor swings for you to browse. The swings have various safety and security features, hopefully you will find one to suite the needs you’re looking for.

In this edition we also have an article from fellow Angel Mama, Erin Bates! She is sharing her travel tips with us. In her article she wrote “Don’t let Angelman Syndrome stop you from seeing new places, meeting new people and living an amazing life.” This really resinated with me because I sometimes find myself not wanting to go out or visit friends and family.

Thanks for the reminder, Erin! It may not always be easy but when I see the smiles on their face I know it was worth the effort.

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.

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

www.kayserbettenus.com

Have Fun This Summer While Traveling Traveling tips for short or long vacations

By Erin Bates Summer is here and planning activities with your child with Angelman Syndrome can be hard. I can remember scrolling through my Facebook news feed and see these family vacation pictures and ask myself “Will that ever be us?” I still get anxiety at the thought of a trip but I realize how important it is to create memories the kids will love and make it a trip where my son can just be a kid.

I have learned that an Airbnb works best for us. They are reasonably priced and a home-style setting helps both my son and my anxiety. It gives him room to walk around freely and allows me to establish a routine similar to our home routine. It can be hard to pack up all your equipment and worry about safety. I have learned most bnb owners are understanding and will let you ship a lot of things to the house prior to your stay. Our nightly routine is simple, I will lay with him until he falls asleep or we pack a pop-up tent that he likes to sleep in because it’s small and gets very dark.

“Don’t let Angelman Syndrome stop you from seeing new places, meeting new people and living an amazing life.”

Long overnight traveling isn’t your thing? I hear ya, road trips can be so much fun and a good way to ease into travel. Going to children’s museums, aquariums, water parks, zoos and sporting events are great fun. I always call beforehand and ask about their handicap accessibility. Most places are very understanding and will go out of their way to make it a great experience for your child.

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Leaving the house for a few hours is great for you and your child. When you make your presence known in the community most of the time you will be well received. There is that one percent chance that you won’t be received well. I had an experience when a typical boy kicked my son in the stomach. I went to talk to his mom and she said: “boys will be boys”. So I walked over to that little boy and said, “we don’t kick people”. That experience led me to create a #TobysTroops card. It’s a simple card about Angelman Syndrome and Toby. I hand them out to those parents who need reminding that we are members of this community too and should be treated with respect.

Road trips have you squirmy? Day trips can be just as much fun. Try to find a local park with a splash pad. You can look online in your area to see what is available. On a day trip, we pack like we are going to be gone for 2 days. We pack pull-ups, a change of clothes, fidgets, tablets, equipment, food, adaptive cups, melatonin and medication. I pack everything in the car the night before so we can be on the road by 8 am. If we are still on the road at 9 pm I’ll give my son his meds and let him sleep in the car so the transfer from the car to the bed is so much easier.

I have found that the more I go out with my son I notice things in the community that aren’t modified for him and it gives me a reason to call my local legislators and demand adaptive play equipment. The more we can unite the more we can conquer the world. Look at Caroline’s cart – one mom’s idea to help make shopping easier is now available at many retailers around the globe. Some stores will order it when you ask them.

Don’t let Angelman Syndrome stop you from seeing new places, meeting new people and living an amazing life.

ANGELMAN TODAY | 6

Angelman Syndrome Communication, Educational, and

Related Considerations by Bentham Science Publishers

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

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 https://www.amazon.com/kindle-dbs/hz/signup?

Gestures system, an evidence-based approach for linkCode=ur1&adid=1PP7C2TGHB7NXJPZ8XF5&_encoding=UTF8&tag=wwwangelmanto developing a communication repertoire in individuals -20&*entries*=0&creative=0&camp=0&*Version*=1 with AS. Most recently he published hid edited book, “Angelman Syndrome: Communication, Educational, and Related Considerations.”

Get your copy here.

Share with your child’s teacher.

ANGELMAN TODAY | 7

Have Fun This Summer And Enjoy The Outdoors With A Swing.  

Now Available at the Ultimate Amazon Special Needs Shop Categories are now available and we have one dedicated to In-door and Out-door Swings.

swing

swing

swing

swing

swing

swing swing

swing

swing

swing

swing

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Windy City Angels are Flying Again!

Support Our Runners in the 2018 Bank of America Chicago Marathon 2017 Windy City Angels ASF - Chicago Marathon Team

MEET THE 2018 WINDY CITY ANGELS BY CLICKING ON THEIR NAMES BELOW, AND DONATE TO HELP THEM REACH THEIR FUNDRAISING GOAL! Dan Cox Mike Nemiroff Monique Garcia Matt McGahhey Adam and Amanda Moore Terrence Cunningham John Butler

Dan Baldino Jason Schnepf Mark Burja Bob Sarocka David Olszewski Kathryn Ely Elizabeth Jalazo

Ashley Guthrie Drew Robinson Lacie Robinson Alex Gavilla

Lacie Robinson

Registration for the marathon is closed, but you can still support the team or become a Windy City Angel!

• Join the International 5k team (details coming soon) • Become a virtual runner – contact Kitty Murphy at kmurphy@angelman.org to learn how!

Michael Nemiroff 2017 Windy City Angels Team Captain

www.Angelman.org

(800) 432-6435

Int’l (630) 978-4245

info@angelman.org

O

The Angelman Syndrome Foundation Windy City Angels have 19 runners in the 2018 Bank of America Chicago Marathon. Together, they have a collective goal to raise $47,500 to fund critical AS research.

These runners will put their bodies through months of intense training to run 26.2 miles, and they’ll raise thousands of dollars, all to help give our loved ones with AS the care and support they need. These runners are truly heroes for our families and we are so grateful!

for

Our

Kid

Celebrating its 20th anniversary this year, the ASF Walk has funded $9.5 million in AS research and $4.7 million in day-to-day family support services.

s

WE NEED YOU to keep fundraising for the ASF Walk to help achieve a cure for AS that we know is possible!

It’s not too late to join us in fundraising for a cure!

Saturday, May 19th* 43 locations throughout North America

FUNDRAISE AND DONATE AT ANGELMAN.ORG/WALK *Some dates vary by location.

August 6-7, 2018 Chapel Hill, NC The Carolina Inn

The 2018 Angelman Syndrome Foundation/Dup15q Research Symposium features two full days of world-class scientific, translational and clinical presentations.

The symposium allows for the sharing of unpublished work, which leads to conceptual discussions among outstanding AS researchers and clinicians that accelerate therapeutic opportunities for both disorders.

Click here for more information on the most prestigious annual research meeting in the world for AS and Dup15q!

2019 ASF Research Symposium & Family Conference Location Announced!

Next year’s ASF Research Symposium & Family Conference is taking place in Louisville, KY at the Marriott Louisville Downtown! Check out all that the “Derby City” has to offer – the site of your next family trip and the largest worldwide gathering of AS experts and families!

Mark your calendar and download the ASF budget planner to start planning your trip TODAY! Join the ASF Conference Facebook group to always receive the most up-to-date information on the 2019 Conference.

www.Angelman.org

(800) 432-6435

Int’l (630) 978-4245

info@angelman.org

Angelman Weekend

CC K 2018

at

Oct.

19-21

Since the first camp in 2016, 63 Angelman families have been gifted a special family weekend at CCK. Keep an eye out this summer so you can be first to apply!!

Application Period Begins Summer 2018 – Stay Tuned for Details!

It’s more than a camp; it’s an experience unlike any other – and your chance to join the fun is coming soon: This year’s Angelman Weekend at the Center for Courageous Kids is October 19-21.

For the past two years, generous donors have given AS families an incredible opportunity to attend a weekend at CCK for free. While at the camp, families spend stress-free, quality time together in an accepting, inspiring and empowering environment, and enjoy wonderful camp activities that would otherwise not be possible.

What families had to say:

“ Nothing short of INCREDIBLE for

our entire family – meeting all of the Angels & their families, fantastic activities, amazing staff/volunteers and gorgeous grounds/facilities. So grateful & hope more families have a chance to go! ”

– Sue

“ You gave us the best family

weekend we ever had. Thank you for making this possible and giving our family an unforgettable weekend.”

– Brad

“ It was so refreshing to see that

no one was excluded at CCK, not even angels’ siblings. It was also very therapeutic to us as a family to be able to interact with others in our shoes. ”

– Jennifer

Families love CCK! See photos of activities from a previous Angelman family weekend here!

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 | 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




Summer Safety

Water Gym - Float Belt Now Available at The Ultimate Amazon Special Needs Shop

HIPPOCAMPE All Terrain Beach Wheelchair Now Available at The Ultimate Amazon Special Needs Shop

http://shrsl.com/sejj

Firefly by Leckey Splashy Bath Seat Now Available at The Ultimate Amazon Special Needs Shop

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#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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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 | 18

Best Apps List

Suggested by Parents 


YouTube Kids Amazon Free Time Unlimited Amazon Prime Video Netflix Toca Life: Town First Words Animals Toca Children's Day Box Writing Wizard for Kids Touch Chat GiggleBellies Proloquo2GO ABC Mouse Chatter Pix - Kids Pictello More apps listed on our website www.angelmantoday.com

Order I Love Someone with AS here

Order Angel Warrior here

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 | 20

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 Erin Bates

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 | 22

Our Partners - International Angelman and Associated Foundations 


ANGELMAN TODAY | 23

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