Angelman Today January 2018

 

Digital Edition

Resources | Research | Inspiration

Save $ shopping for a Therapeutic Diet

Angelman Today Shop on Amazon Angelman Global Registry News from ASF and FAST

CONTENTS NEWS 3. Editor’s Letter 4. KayserBetten Bed for Special Needs 5. 5 Tips To Help You Save Money On Groceries For A Therapeutic Diet 6. Angelman Syndrome Communication, Educational and Related Considerations Kindle Book 7. New Children’s Book - Jesus, Let’s Talk by Lisa Jamieson 9.

KayserBetten - Beds for Special Needs

International Angelman Day

10. Ultimate Amazon Special Needs Shop 11. Angelman Today Cover Contest Winner 12. Cover Girl Hannah 16. If I Need Help (Safety Product) 19. I love someone with Angelman Syndrome t-shirt 23. #LifeWithAnAngel 24. The History of Angelman Syndrome 26. Contributors

ANGELMAN AND ASSOCIATED FOUNDATIONS 13. Angelman Syndrome Foundation 15. Global Angelman Syndrome Registry

Canadian Angelman Syndrome Society First Annual Red Gala 2018!

17. The Angelman Respite Centre - Quebec Canada 18. Foundation for Angelman Syndrome Therapeutics 2o. Canadian Angelman Syndrome Society 27. Our Partners

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EDITOR’S LETTER

Welcome to another edition of Angelman Today!

Happy New Year! I welcome this new year with so much gratitude as I look forward to 2018. First, I am always grateful for the health of my son, Nathan and how much progress he has made.

There are multiple AS research projects that will be starting very soon! Make sure you are registered with the global registry and foundations.

Last quarter I received an exclusive invitation from Amazon to create an online shop and I filled with all of the products that I use and have suggested in Angelman Today and items that are on my wish list!

Having all of these products in one shop makes it so easy and you’ll get to discover things you did not even know existed. I know you are very busy and do not have a lot of time to research all of the products that can help with daily life or stay current with the latest sensory toys or figits. As parents and caretakers we know that ‘Adaptive’ products can be very expensive but by coming to the Amazon marketplace I believe it encourages them to have competitive pricing. I am so excited to bring you the Ultimate Amazon Special Needs Shop! Get details and links on pg. 10.

Covergirl: Hannah, age 8

Learn more about this beautiful Angel, Hannah on page 14.

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

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www.kayserbettenus.com

Keep walking past the toxic sugar.

5 Tips to Angel Goes Shopping

help you save money on groceries for a therapeutic diet.

 

1. Buy in bulk from big box stores like Costco, Sams Club or Bj’s Wholesale.

2. Look for coupons in the mail, newspapers, the internet or grocery store apps.

3. Create weekly menus with your budget in mind.

4. Shop around the perimeter (edges) of the store. -The middle aisle usually contains processed foods that you want to avoid.

5. Buy fruits and vegetables that are in season. Seasonal fruits and veggies are less expensive than when out of season. *Bonus: Buying the fresh cuts of meat with the higher fat content is less expensive than the lean cuts which is better for increasing the fat ratio on the diet.

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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.

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We recently caught up with the very busy Angel Mama, Lisa Jamieson to learn about her new book Jesus, Let’s Talk.

A delightfully visual exploration of basic prayers for the young and young at heart Jesus, Let’s Talk helps children, early readers, and people with developmental differences enjoy the sweet basics of conversation with Jesus. There are many ways to worship and this natural approach to prayer inspires both the young and young at heart. Colorful photographs of children and young people celebrate that the fingerprints of God are on all people, all around the world. The book also highlights key prayer words using American Sign Language. Young ones who are not yet talking, those who experience hearing impairment, and others who simply want to explore the joy of communicating non-verbally will have fun learning new ways to express themselves.

Introduce a child to a personal relationship with their Creator, Savior, and Friend, Jesus. This delightful book makes a perfect gift for toddlers, early readers, and for young people with developmental-intellectual disabilities.

Featured prayers include: Thank you, God I’m sorry, Jesus Help me, Holy Spirit I’m listening to you I believe in you Lisa Jamieson is an author and speaker who also advocates for families affected by disability and caregivers of all generations. She leads the Minnesota Disability Ministry Connection and serves as executive director of Walk Right In Ministries. Her books and Bible studies include Finding Glory in the Thorns, which she co-wrote with her husband, Larry.

Lisa and Larry have three grown daughters and are excited to celebrate 30 years of marriage this summer.

Their daughter, Carly (19, AS del+), has Angelman Syndrome and lives happily at home with them in Minnesota.

Tell Angelman Today readers a little bit about yourself and your family.

My husband, Larry, and I have three adult daughters and live in Minnesota with our youngest, Carly, who is 19 years old and has Angelman Syndrome. As you would imagine, much of my time is spent caring for Carly and our household but I also write, speak and serve in ministry as an advocate for caregivers of all generations. Larry works for a men’s discipleship ministry and does business consulting. We are excited to celebrate 30 years of marriage this summer.

What is this book about?

This book is about prayer and exploring the very natural ways we can express ourselves with God. Since the photography features young people with various abilities from all around the world, Jesus, Let’s Talk also celebrates that God is beautifully creative. Each and every one of us is very precious to Him. What led you to create this book?

While I hope lots of children all around the world will enjoy Jesus, Let’s Talk, I wrote it with Carly, her friends with Angelman Syndrome and other challenging conditions as well as their caregivers at the top of my mind.

On one of those very late nights many Angelman families know too well, I was awake with Carly who seemed to be in pain. In tearful frustration, I called out, “Jesus, help!” while simultaneously signing “help” for Carly to see. Suddenly it occurred to me that we had not explained to her about asking God for help. Although we had been teaching Carly “thank you” and “I love you” prayers around mealtime and bedtime, I realized most other prayers happened inside my head, between me and God. I began teaching Carly a broader range of prayers and a representative gesture or American Sign Language with each scenario. Since I had made Carly photo scrapbooks to model new skills over the years, I began envisioning one pairing basic prayers with key signs. It seemed like a book that could help others but I found nothing like it on the market. I approached my friend Ann about partnering with me because she is a professional photographer, travels internationally and shares my passion to help people of all abilities connect with Jesus.

Creating Jesus, Let’s Talk was a labor of love for both of us.

Do you have a favorite story from the process of writing this book?

There were several special moments in the creation of this book but one fun memory that always makes me smile comes from an afternoon in late August. It was our last photo shoot for the project and several families were scheduled to arrive in my backyard at 1:30 pm. We ran into one problem after another from pouring rain to a missing memory card for Ann’s camera.

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Well, the rain actually cleared up right on time but not before chaos was underway in the house which evolved into three young adults with Angelman Syndrome vying for my daughter’s iPad. We could easily have had six great pictures in the book with that iPad in them but we managed to keep it to only one.

How did you find the time to write Jesus, Let’s Talk? We all know being an Angel Parent is very demanding of our time.

I ask myself this same question sometimes and wish I could give a short answer! Trying to have a career (or any kind of work) let alone enjoy special projects or hobbies feels impossible most days. I don’t know how any parent who has a child with Angelman Syndrome can get through a day without help from others. I am very grateful to have helpers. But even with help, I don’t rest a lot and have to be careful that my family doesn’t pay the consequences when I’m engrossed in a project or busy season with my ministry work.

I am constantly challenged to balance my excitement for creative projects with my love for family and responsibilities related to our household. I’m fortunate to be in a stage of life when our oldest children are out on their own now and Carly is in a transition program for a few hours each day. So, after a quick walk on the treadmill (some days), a very fast shower and maybe even lunch, I have some time to work a few hours a week.

Truth be told, there are some selfish reasons why I stay busy too. The creative process energizes me and doing things for others encourages my spirit. My work even becomes a bit of escape from my rather consuming caregiving role with Carly.

Where can readers find the book?

Angelman Today has added Jesus, Let’s Talk to the Ultimate Amazon Special Needs Shop and can be ordered online here https://www.amazon.com/shop/ angelmantoday_com

I used to be one of those professionals who never missed a deadline. These days I miss a lot of them, especially when we’ve had a long night or a day with unexpected challenges or interruptions due to Carly’s complex needs. I am also privileged to have a very supportive husband who shares household chores and can sometimes spend an evening snuggling with Carly watching tv if I have creative streak or deadline looming.

I do a fair bit of writing on my computer in the middle of the night when Carly can’t sleep and I’m sitting in a recliner beside her bed. Many ideas come while I’m cooking and showering too. Odd as it seems, I usually have my computer handy in the kitchen and I keep a notebook on my bathroom counter too! I’ve also been known to dictate thoughts into my phone while driving. When my older children were still at home and riding in the car with me, they were sometimes asked to type quick notes or reminders for me on their phone and send it to me in an email. I’m not necessarily proud of this but it’s given us all something to chuckle about and remember now and then (sometimes accompanied by an eye roll from one of my daughters).

Jesus, Let’s Talk is currently available at Amazon.

Larger orders (10 or more) can be placed directly through the publisher at www.WalkRightIn.org.

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Many locations are lighting it up blue for International Angelman Day! Celebrate with your friends and family at these locations on 2/15.

Taking a photo and share it on social media. Feel free to tag @anglemantoday and we will share or repost it to help raise awareness.

If you would like to share your IAD 2018 with us in the next edition please email Lizzie@angelmantoday.com

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The Ultimate Amazon Special Needs Shop

https://www.amazon.com/dp/B00DBYBNEE? _encoding=UTF8&adid=0Y9MEZQ15H6GCNBX0SCA&camp=224849&creative=511289& linkCode=ur1&primeCampaignId=prime_assoc_ft&tag=wwwangelmanto-20

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.

This shop will be updated often 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

“This shop on Amazon made holiday shopping for my Angel so much easier and I could easily send the link to my friends and family when they asked what to get my daughter for Christmas.”

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Winner of the 2017 Angelman Today Cover Contest!  

Cover Girl Hannah Thank you to everyone who participated and shared your beautiful photos with the world to raise awareness about Angelman Syndrome.

Honorable mention from the 2017 Angelman Today Cover Contest.

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Cover Girl Hannah

By Sarah Rivard

Hannah is 8 years old and loves to laugh! She is currently in third grade at our community public school. She looks forward to school everyday to see her friends. She continues to work hard and overcome so many AS barriers. Hannah’s social personality lends to creating loving friendships with those around her.

Hannah uses a communication device with Proloquo2Go. She loves to chat about her family, friends and swimming all daylong! Her highlights of her days include hanging out with friends, going to school, kitchen dance parties, doing puzzles, eating ice cream wherever she can and laughing with her family!

Hannah is the inspiration behind the nonprofit Hannah’s Hope Foundation. The Foundation was started by her parents and puts on an AAC camp every fall for Angelman Families in Alberta, Canada. This is a fun time to connect, laugh and learn more about embedding AAC in all our environments!

Come to camp! www.hannahshope.ca

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for

Our

Be The Cure for AS by registering and fundraising for the 2018 Angelman Syndrome Foundation Walk. Your efforts will fund critical research and help families NOW.

Kid

Celebrating its 20th year in 2018, the ASF Walk has funded $9.4 million in AS research and $4.7 million in directly helping families during the past 20 years. We must keep pushing forward to achieve a cure for AS that we know is possible, and we need YOU!

s

Saturday, May 19th* 43 locations throughout North America

Did you know? People who register early for the

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

$25 $35

Early Bird Registration (1/2/18 – 2/28/18)

REGISTER TODAY:

Registration Fee Begins 3/1/18

Register online before 4/13/18 and receive an ASF 2018 Walk T-Shirt!

WWW.ANGELMAN.ORG/WALK

*Some dates vary by location.

www.Angelman.org

(800) 432-6435

Int’l (630) 978-4245

info@angelman.org

ANGELMAN WEEKEND

CCK

AT

IS BACK IN

2018

Oct.

19-21

SAVETHEDATE Application Period Begins Summer 2018!

Research Focused on a

CURE Two research grants were announced in late 2017 that are moving us closer towards a cure for AS. The ASF funded Dr. Steven Gray’s pivotal gene therapy research and Dr. Ben Philpot’s research that is using new drug compounds to activate the paternal Ube3a gene. Click below to watch the videos explaining this research.

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!

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

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

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Photo provided by FAST - Foundation for Angelman Syndrome Therapeutics

The Annual FAST - Foundation for Angelman Syndrome Therapeutics Summit and Gala was held at the Hyatt Regency in Chicago and had nearly 1,300 attendants and raised more than $4 million for Angelman syndrome research, up from $1.3 million in 2016. One hundred percent of the dollars raised go directly to research.

Celebrity guests joining this great cause were Colin Farrell, Christina Applegate, Taylor Lautner and Jai Courtney.

Photo provided by FAST - Foundation for Angelman Syndrome Therapeutics

Parents had the opportunity to ask the experts about gene therapy at the round table discussion, including Dr. James Wilson, University of Pennsylvania; Dr. Arthur Beaudet, Baylor College of Medicine; Dr. David Segal, University of California, Davis; Dr. Scott Dindot, Texas A&M University; Dr. Kevin Nash, University of South Florida; and Dr. Edwin Weeber, University of South Florida.

Photo provided by FAST - Foundation for Angelman Syndrome Therapeutics

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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!!

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The Canadian Angelman Syndrome Society is thrilled to announce it's 25th anniversary conference and gala in Toronto on April 20-21, 2018 at the luxurious Omni King Edward Hotel.

CASS has been hard at work securing speakers for an outstanding and unique conference event.

New to this conference will be bookable 1:1 sessions for parents with the speakers. We want you to feel supported and get your questions answered. This is an interactive, up-lifting and positive event that is not to be missed! The complimentary conference will be followed by a gala event for which tickets are available for purchase. You will laugh, share, be social and feel connected.

Be sure to register online at https://www.angelmancanada.org/events/ so you can attend this amazing event.

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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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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 Sarah Rivard

All Of The Angelman And Associated Foundations Foundation for Angelman Syndrome Therapeutics Angelman Syndrome Foundation

/AngelmanToday

/AngelmanToday

The Angelman Respite Centre - Quebec Canada Canadian Angelman Syndrome Society

/AngelmanToday

Sponsors

/AngelmanToday

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

Angelman Today

STAY CONNECTED ANGELMAN TODAY | 26

Our Partners - International Angelman and Associated Foundations 


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