Angelman Today July 2017




Digital Edition

Resources | Research | Inspiration

Angel Goes Packing

Safety products Back to School Resources News from ASF and FAST

CONTENTS NEWS 03. Editor’s Letter 04. KayserBetten Bed for Special Needs 05. Charlotte’s Web CBD Oil 06. Angel Goes Packing 07. Angelman Syndrome Communication, Educational and Related Considerations Kindle Book 10. Helpful Back to School Products

KayserBetten - Beds for Special Needs

12. Back to School Safety Products 13. What Angel Parent Are Saying About The KayserBetten Bed. 14. Cover Girl Allie 22. I love someone with Angelman Syndrome t-shirt 23. #LifeWithAnAngel 24. The History of Angelman Syndrome 25. Contributors

ANGELMAN AND ASSOCIATED FOUNDATIONS 11. Foundation for Angelman Syndrome Therapeutics 15. Angelman Syndrome Foundation 19. The Angelman Respite Centre - Quebec Canada

I love someone with Angelman Syndrome t-shirt pg. 20

28. Our Partners

ANGELMAN TODAY | 2

EDITOR’S LETTER

Welcome to another edition of Angelman Today!

The kids are heading back to school and in this edition we wanted to give you not just one list of helpful products but another list to keep them safe. The top technology that is giving us this security is GPS tracking. We have a few different options for you to choose from on page 12.

We have had a great response from our last edition about the KayserBetten bed.

Parents have written in and commented on social media about how much they love this bed and how it even helps the parents have a good nights sleep knowing how safe their Angels are.

Thank you for your comments and keep sharing because this bed is still unknown to far too many families.

Angel on the cover: Allie, age 12

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

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

Available in Mint Chocolate and Olive Oil

Click here to order online

Angel Goes Packing

By Alisa Guilietti

Hi, my name is Nicolas and I am a 15-year-old who has Angelman Syndrome (AS). It's a rare genetic disease affecting my 15th chromosome. For me, it means I speak only two words rarely, my walking is unbalanced, I need help with a lot of my daily activities and I really like getting into things, so someone needs to be around me all of the time. I am also generally a very happy guy. I can't write, but my mom knows me pretty well, so she's writing what she thinks I would say if I could.

Over ten years ago, when I was four, our family learned about a place called RideAble, horsemanship for people with special needs. On the first day, I got to hold the reins of my horse, "Goldie", lead her to the arena and ride her. I loved it! I felt so big and independent! I have been taking lessons almost every week ever since.

Not only am I having fun, but my muscles are working hard to keep me centered on my horse, I am learning how to make the horse go, stop and turn, and I am interacting with some great volunteers and instructors who love horses and are very committed to helping people like me. They keep my lessons interesting and change them up with new challenges. Sometimes they even have me ride bareback, backwards! I really have to concentrate when I do that. My favorite part is when we trot!

My parents attended a RideAble auction about 6 years ago and bid on a pack trip. My Papa and older sisters went with Matt and Becky Hope, who are members of the Emerald Empire Chapter of the Back Country Horsemen of Oregon, which covers the Southern Willamette Valley of Oregon.

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

They are an equine group of riders protecting the ability to recreate on our public lands, Forest Service, BLM, County and State parks. They embrace trail work/ maintenance, Leave No Trace education, trail advocacy, and youth programs. Basically, fun people who like horses, hard work and fun outside! They all had an amazing time on the trip and that fall they took our whole family for a trail ride at Elijah Bristow Park. It was so fun having my family ride with me. I got so excited seeing everyone up on horses, especially my Papa.

Something clicked with our family and theirs, and we have been riding together ever since.

My Papa and three sisters have been on a few pack trips with Matt and Becky. Matt said a couple times, "We need to get Nicolas and Alisa out there on a trip". I was pretty much for it because I like to try new things and am a good sport. My Mama was a little hesitant. Sometimes taking care of me can be a lot of work and I think she wasn't sure if it sounded fun and worth the effort.

With planning and encouragement, the day finally came. We packed up all the horses and rode eight miles into Buck Meadows in the beautiful Three Sisters Wilderness. Me and my horse were ponyed so we didn't get off course. We had a few obstacles on the trail riding in and out. There were a lot of trees down so we had to stop, assess our options, ride cross country, then get back on the trail. Sometimes there were logs we could jump and others we went under and had to duck our heads. We went slow and I had to pay attention. We also encountered some bee nests. The horses don't like being stung so they usually start running to get away from the bees when this happens. It's pretty exciting!

When we arrived at the perfect spot, everyone worked to get camp set up, because we'd be staying there for the next 4 nights. They even packed in a sturdy chair for me to sit on.

Over the course of the next few days, we went on some awesome mountain trail rides in meadows, near lakes and waterfalls and got really close to the mountains. Matt and Becky are super cool and fun to be with. Nothing really phases them and they are very organized and well-prepared.

The Hopes have a cool water filter system since we can't bring in water for everyone. We camp near running water so all the animals have access to it. Also, we all try to limit the amount of trash we have. We burn what we can, then pack out the rest. As you can see, it's a pretty organized operation.

Mealtime is a big part of our experience together, as we all love sitting around the fire, soaking up the amazing surroundings and enjoying a good meal. Food doesn't just appear on our plates; it takes some good planning and preparing since we have limited space. Becky and Mama planned ahead, froze a lot of food and did a great job delivering nutrition to us all. Everyone pitches in with getting the meals ready and washing dishes when we are done. I usually supervise!

They have a wonderful group of Norwegian Fjord horses: Darwin, Ekko (who I ride), Thumper, Regney, Sy, Scout, Bo and their friend Flint. Quigley and Clancey are a

My family loves to be outdoors and hike, which is

great pair of Australian Shepherds and our Golden

pretty hard for me. It's very cool that thanks to all

Retriever, Samson, has fun with them all.

these wonderful people and horses, we have found something we all love and can enjoy together in the

One morning Becky was hanging out with me while

great outdoors as a family.

everyone was getting ready for that day’s ride. I was tired of sitting, and I wanted to get closer to the horses.

Becky walked with me to each one of them so I could say hi. This is a great example of how good Matt and Becky are at including me and helping me interact with the horses.

ANGELMAN TODAY | 9

Helpful Products for Back to School To improve the daily lives of those with Angelman Syndrome. https://www.amazon.com/dp/B00DBYBNEE? _encoding=UTF8&adid=0Y9MEZQ15H6GCNBX0SCA&camp=224849&creative=511289& linkCode=ur1&primeCampaignId=prime_assoc_ft&tag=wwwangelmanto-20 Support your favorite Angelman charity with the Amazon Smile program when shopping online.

Under huggers - Soothing pressure that kids can wear all day for a calming effect all day long.

http://www.angeltalk.info

Weighted Compression Vest with Graphics

Keep Me Clean: NoPÜ Shorts

ANGELMAN TODAY | 10

Angelman Biomarkers and Outcome Measures Alliance and Roche begin patient-centered qualitative research to inform potential outcome measures for Angelman syndrome clinical trials

development in Angelman research takes a critical step in matching the needs

Nashville, Tenn. (June 22, 2017) – A collaborative group of

of patients with Angelman

parent-driven organizations seeking a cure for Angelman

syndrome to possible treatment and measurement strategies.

syndrome has teamed up with F. Hoffmann-La Roche Ltd,

“We are all working together to determine the needs of families

(Roche), one of the world’s largest pharmaceutical and

with Angelman syndrome in terms of new treatments and

diagnostics companies, in the first phase of a study that will

medications,” says Chamberlain.

support the design of human clinical trials and treatment development for the disorder.

FAST and ASF joined efforts with Agilis Biopharmaceuticals to create the Angelman Biomarkers and Outcome Measures

Roche has committed funding to create an Angelman syndrome

Alliance (A-BOM) in 2016. The alliance of foundations and

conceptual model. Roche as a leader in personalized healthcare

biopharmaceutical firms works to help researchers identify the

is taking a patient-centered approach to drug and treatment

best ways to measure clinical progress in Angelman syndrome

development.

in an effort to design better trials to test the effectiveness of new experimental treatments. A-BOM is encouraging the families,

According to Roche, the first phase of the study aims to better

caregivers and physicians of Angelman syndrome patients to

understand the impact of Angelman syndrome on patients and

participate in this effort by joining the Angelman registry. The

their families through interviews with caregivers and physicians

registry assists researchers in collecting strategic information

around the world.

about the disorder from patients and their physicians. The registry can be found online at angelmanregistry.info.

“The findings of this research will be a key step towards identifying and developing the best outcome measures and

“We need rigorous ways to measure how potential treatments

biomarkers for future clinical trials,” says Dr. Tom Willgoss,

may improve the quality of life for individuals with Angelman

principal scientist, Roche.

syndrome and their families,” says A-BOM’s director, Dr. Terry Jo Bichell. “Roche’s conceptual model will set a standard that

The study signals a new movement into the human testing

will help researchers determine what to measure, how to

phase of possible drug and therapy development for Angelman

measure it, and how to interpret their findings when they are

syndrome.

trying to identify possible treatments.”

“To have such a cutting-edge biotech giant join all of us in the

Initial findings for the first phase of the study are expected in

quest for a treatment and cure for Angelman syndrome is a very

2017. The research team plans to interview the caregivers and

hopeful sign of significant movement for our families who

clinicians of approximately 33 patients with Angelman syndrome

struggle with the impact of this disorder,” says Dr. Allyson

in its sample.

Berent, DVM, DACVIM, chief science officer for FAST (Foundation for Angelman Syndrome Therapeutics).

About The Angelman Biomarkers and Outcome Measures

Dr. Stormy Chamberlain, chair of the scientific advisory committee for the Angelman Syndrome Foundation (ASF), agreed that this next phase of development in Angelman research takes a critical step in matching the needs of patients with Angelman syndrome to possible treatment and measurement strategies.

Alliance (A-BOM) The Angelman Biomarkers and Outcome Measures Alliance (ABOM) is a new group formed by both FAST (Foundation for Angelman Syndrome Therapeutics) and the Angelman Syndrome Foundation, together with researchers and pharmaceutical corporations to help move new treatments to the clinical trial phase. A-BOM includes scientists, foundations

Dr. Stormy Chamberlain, chair of the scientific advisory committee for the Angelman Syndrome Foundation (ASF), agreed that this next phase of

and corporations that are all working together to share in research, studies, trials and stories to help people with Angelman syndrome.

Save 5% on your first purchase using promo code: Angelman Today www.ifineedhelp.com

PocketFinder Outdoor Personal GPS Locator Trax Play NEW Upgraded Live Outdoor GPS Tracker for Children & Pets Findster Kids - The GPS Tracker for Kids without Monthly Fees

What Parents Are Saying About The KayserBetten Bed For Their Angels.

“Justin absolutely loves his bed, he goes to it right after his bath every day after school for his nap! He takes me

by the hand to lead me there, lol. We got it last December for my house. It took me a little over a year to get him one at his father’s house since his old Vail bed had been recalled years ago and we didn’t know ’til I got his first bed! Now he is safe at both houses with this awesome bed! He sleeps 2 1/2 hours everyday after school and from 11 pm ’til 6:30 am each morning!”

- Barbara Barclay

Cover Girl Allie

By Iris Favor

Allison (Allie) is our beautiful 12-year- old Angel who has Angelman Syndrome (UPD). Although Allie faces many difficulties daily, she LOVES so many parts of her day even more. From the smile that greets us when we open the door to her bedroom in the morning to the squeals of laughter we hear as she plays in the pool in the evening Allie certainly knows how to make us all grin from ear to ear.

Allie has a full day of school where she participates with her teachers, classmates, and therapists to make her day not only a learning experience, but a fun day as well. Most days we get updates from her teachers with pictures and positive words about how well she is doing. Of course we know she loves being in school due to the big smile she has on her face.

Although Allie is non-ambulatory, that doesn’t stop her from taking part in the activity she loves the most dancing. Allie has been part of a ballerina company called Dancing Dreams for the past 7 years and even had the opportunity to dance on the stage at Lincoln Center as well as appear on the Meredith Vieira show with her dance mates.

When it is time to relax Allie absolutely loves Mickey Mouse Clubhouse. It amazes us how she lights up and claps whenever Mickey is on TV. Needless to say we bought all the season and now have a vast library in our collection. Allie had the opportunity to meet her man Mickey on a Disney cruise a couple of years ago and it really was a magical moment as we never thought our little girl could be star struck… well, it happened and was a moment we will never forget.

She has taught us that the materialistic things that we try to hold onto really don’t matter. It’s about that raw appreciation that many of us seem to forget at times, the love, the hugs, and the sloppy, wonderful kisses that are really what it’s all about.

One thing we can say without ever hearing Allie say a word is that she has such an appreciation for life and the people around her who love her to the moon and back. And in that, we have found such a new appreciation for life through Allie.

ANGELMAN TODAY | 14

Thank You! FROM US TO YOU:

The 2017 ASF Walk: the world’s largest AS research fundraiser!

Thank You to everyone who joined the AS community at the 2017 Angelman Syndrome Foundation National Walk to raise money for a cure for AS! You helped fundraise over a million dollars that will directly fund family support services and AS research focused on treatments and a cure. We are incredibly thankful for you!

CHECK OUT THE 2017 ASF WALK PHOTOS TO SEE THE GREAT TIME THOUSANDS OF FAMILIES HAD RAISING MONEY FOR AS!

www.Angelman.org

(800) 432-6435

Int’l (630) 978-4245

info@angelman.org

Even though the 2017 Walk is over, the effort to achieve a cure continues!

Keep pushing until you achieve your fundraising goal! More funds are needed to match all of last year’s ASFfunded research and family support that gives so many families real solutions and a reason to smile. Don’t forget: you can quickly double your impact with matching gifts from your employer!

MY FUNDRAISING TO MUST-DO LIST Critical research and family-support services need funds from the 2017 ASF Walk in order to continue. Get organized and start fundraising for the ASF Walk TODAY!

DID I GET PERSONAL?

Set up my personal fundraising page, and USE IT! Tell my story, add family photos and show people why their donation is so important.

Easy Steps I Can Take to Raise More Money for A Cure for AS and To Help Families NOW!

DID I MAKE MY DONATION?

According to research, I will raise 7x more money if I donate to myself first!

DID I GET SOCIAL?

• Get personal! Share my story and “why” I joined the efforts for the ASF National Walk.

• Promote my personal fundraising page at least twice every week.

• Encourage friends and family to support my efforts.

• Check ASF’s social media pages for great topics to re-post and use.

• Communicating more = raising a LOT more money for research and families.

THANK YOU for all that you do to advance AS research and family support!

DID I CHECK INTO EMPLOYER MATCHING?

Ask HR if my company will match my gift to the 2017 ASF Walk. It will double my impact!

Have QUESTIONS OR NEED HELP?

Contact Kitty Murphy at kmurphy@angelman.org

www.Angelman.org

(800) 432-6435

Int’l (630) 978-4245

info@angelman.org

EXCITING RESEARCH ANNOUNCEMENTS

You THAT

MADE POSSIBLE

It’s been a busy few months with ASF-funded research!

Several recent ASF-funded research announcements are helping us identify treatments and achieve a cure for Angelman syndrome. Check out the videos below to learn more!

2017 Joseph E. Wagstaff Postdoctoral Fellowship: Dr. Noelle Germain Dr. Germain is taking novel approaches to activating paternal Ube3a. Through the Joseph E. Wagstaff Postdoctoral Fellowship, the ASF seeks to honor Dr. Wagstaff’s legacy by supporting innovative research initiatives, and fostering brilliant young researchers into a career of AS research.

www.Angelman.org

(800) 432-6435

Int’l (630) 978-4245

info@angelman.org

EXCITING RESEARCH ANNOUNCEMENTS

You THAT

MADE POSSIBLE

Dr. Kiyoshi Egawa Researching Gaboxadol Dr. Kiyoshi Egawa, Hokkaido University Graduate School of Medicine in Japan, is conducting further research on Gaboxadol’s potential therapeutic effects in other parts of the AS brain. AS research expert Dr. Ben Philpot says that, “it’s critically important to do these types of pre-clinical studies to guide ongoing therapies and therapeutic trials.

The hope is these additional studies, such as Dr. Egawa’s, will provide feedback so even better therapeutics are designed in the future.”

Dr. Mike Sidorov at the University of North Carolina-Chapel Hill

AS Biomarker Identified by ASF-Funded Research ASF-funded research recently published in the Journal of Neurodevelopmental Disorders has identified a reliable biomarker for pre-clinical and clinical trials in Angelman syndrome. Biomarkers must be objective, reliable, and repeatable in different settings in order to accurately determine whether a potential therapeutic is effective— this latest discovery checks all of those boxes.

www.Angelman.org

(800) 432-6435

Int’l (630) 978-4245

info@angelman.org

January 6, 1992,

the Angelman Syndrome Foundation was incorporated.

January 6, 1992: ASF officially

August 5-8, 1993: ASF’s

1993: First major gift to ASF: Former

incorporated: the start of 25 years of commitment to research to discover AS treatments and a cure, and supporting families.

first official Family Conference as an organization. Hundreds of families attended.

Major League Baseball pitcher, Bryan Harvey, donated $20,000 to AS research and family support.

1999: The inaugural ASF Walk. 200 people walked five miles in Naperville, Ill. and raised nearly $25,000. The Walk now has more than 40 sites and 10,000 participants.

2000: www.Angelman.org

October 2002: ASF exhibited at

launched – the first-ever website dedicated completely to AS.

the World Congress and Exposition on Disabilities, broadening awareness of AS to thousands of attendees.

September 9, 2010: U.S.

2011: Dr. Ben Philpot proved the paternal

The first Harry and Audrey Angelman Award recipient announced by ASF, honoring the Angelmans for their immense contributions to our community.

2009:

ASF funded more than $1 million in research in one year for the first time.

January 2014:

The Family Resource Team and Educational Webinar Series were launched by ASF.

www.Angelman.org

(800) 432-6435

House of Representatives passed the Improving Clinical Trials Act, due in part to ASF’s advocacy.

copy of Ube3a can be activated, a huge breakthrough in AS research.

2014: Dr. Art Beaudet builds on Dr.

July 17, 2015: The ASF

Philpot’s paternal Ube3a activation discovery, using ASO’s to activate paternal Ube3a & move us closer to a therapeutic.

Communication Training Series started.

Int’l (630) 978-4245

info@angelman.org

Did you know that during the last 25 years, the ASF has established Angelman syndrome as a recognizable disorder that is making incredible progress towards a cure?

Thanks to brilliant AS researcher and clinician Dr. Charlie Williams, the ASF was incorporated in 1992 as a research organization, which was the first cohesive effort to connect a worldwide network of AS families with one common goal: a cure.

Since that time, the ASF has remained committed to conducting leading research and supporting families with their day-to-day challenges. The result has been the creation of many invaluable resources and the funding of millions in research, which has brought us from a time where no one knew what the disorder was to now having great optimism a cure for AS is close at hand.

Our timeline below is a small glimpse of the notable milestones that we’ve accomplished for you over the past 25 years!

February 27, 1996: “Facts About AS” published: the first-ever comprehensive resource for families for everything known about AS at that time in history.

1996: Scientific Advisory Committee formed by ASF, awarding ASF’s firstever research grant to Dr. Joseph E. Wagstaff to investigate disturbed sleep patterns.

December 1996: Dr. Art Beaudet discovered the AS UBE3A gene.

2005: Disaster Relief Task Force organized by ASF. Helped AS families affected by Hurricanes Rita and Katrina.

2006: ASF launched its Individualized

April 2008: Dr. Joseph E. Wagstaff Postdoctoral Fellowship established

by ASF.

Education Program (IEP) Bank.

February 2012:

First-ever AS Clinics opened at Massachusetts General Hospital and University of North Carolina, Chapel Hill, where AS families receive expert care and treatments from the best in AS.

February 15, 2013: International

2013: iPads for AS program. Enabled

Angelman Day celebrated for the first time

ASF to award 100 iPads to individuals with AS for communication aids.

November 30, 2015: Mayo Clinic

2016: The ASF organized its first Center

invested in AS research by opening its own AS Clinic in Rochester, Minn.

for Courageous Kids (CCK) outing, a fullyinclusive camping experience for the entire family.

www.Angelman.org

(800) 432-6435

Int’l (630) 978-4245

info@angelman.org

ANGELMAN TODAY | 21

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 | 22

#LifeWithAnAngel

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

ANGELMAN TODAY | 23

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 | 24




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CONTRIBUTORS 


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

/AngelmanToday

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

/AngelmanToday

The Angelman Respite Centre - Quebec Canada

/AngelmanToday Sponsors If i Need Help www.IfiNeedHelp.org

/AngelmanToday

KayserBetten Secure Sleep Systems www.KayserBettenUS.com

Angelman Today

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Our Partners - International Angelman and Associated Foundations 


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