Angelman Today April 2017

 

Digital Edition

Resources | Research | Inspiration

Beds for Special Needs Angelman Syndrome Foundation Walk

HFLC Dietary Therapy

CONTENTS NEWS 03. Editor’s Letter 04. Upcoming Events 05. KayserBetten Bed for Special Needs 06. Language of Angels 07. Charlotte’s Web CBD Oil 08. Happy Mother’s Day 09. Angelman Syndrome Communication, Educational

KayserBetten - Beds for Special Needs

and Related Considerations Kindle Book 10. If I Need Help Product And Discount Code 11. Happy Father’s Day 16. Helpful Products 19. Lifetrients 20. I love someone with Angelman Syndrome t-shirt 21. #LifeWithAnAngel 22. Products To Help You Start The High Fat Low Carb Diet 26. The History of Angelman Syndrome

ANGELMAN AND ASSOCIATED FOUNDATIONS 12 - 14. Angelman Syndrome Foundation 17. Foundation for Angelman Syndrome Therapeutics 18. The Angelman Respite Centre - Quebec Canada 27. Our Partners

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

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EDITOR’S LETTER

Welcome to another edition of Angelman Today! I am so excited to share with you some resources for what I have experienced as the most impactful symptoms to the lives of those with Angelman Syndrome and those that care for them. In this edition, we feature one of the top manufacturers in a secure sleep system, KayserBetten Beds and help for those that need to start the therapeutic high-fat low-carb diet for epilepsy but do not know where to start.

We have been able to treat Nathan and now he sleeps all night, every night without medication. His safety is always a top concern, especially those first few years when he did not sleep but 20minute increments. The KayserBetten bed helps ME sleep better at night and I am not even the one sleeping in the bed.

I wanted to include resources for the high-fat therapeutic diet because parents tell me all the time that they just don’t know where to start even after seeing the physician. As a parent who has seen a few nutritionists for the therapeutic diet, I have to tell you that I understand how confusing and frustrating it can be. Today the diet is successful for my son but I too started out not knowing and even worse, had to battle misinformation.

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

Angel on the cover: Olivia Carney, age 12 with her sisters.

“Olivia is extremely busy and requires 24hr care because she is so inquisitive, mischievous and unsafe with her surroundings. We have worked so hard to make Olivia who she is today! - Lisa Carney

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

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UPCOMING EVENTS 


Upcoming Angelman Conference

The Angelman Syndrome Foundation Family Conference and Scientific Symposium July 11- 15 2017 at the Arizona Grand Resort and Spa.

Walk with us on May 201th Research Grant

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www.kayserbettenus.com

Courtesy of Kimberly Dumas

Available in Mint Chocolate and Olive Oil

Click here to order online

Happy Mother’s Day May 14




NOW AVAILABLE ON KINDLE! https://www.amazon.com/kindle-dbs/hz/signup? linkCode=ur1&adid=1PP7C2TGHB7NXJPZ8XF5&_encoding=UTF8&tag=wwwangelmanto -20&*entries*=0&creative=0&camp=0&*Version*=1

Angelman Syndrome Communication, Educational, and Related Considerations by Bentham Science Publishers ANGELMAN TODAY | 9

Keep Them Safe Free membership to special needs caregiver controlled registry.

Save 5%

on your first purchase using promo code: Angelman Today

Happy Father’s Day June 18

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We Can’t Imagine This Without You!

Saturday, May 20, 2017

Walk Our Families Across the Finish Line Our loved ones with AS and their families need YOU NOW more than ever to participate in the 2017 Angelman Syndrome Foundation National Walk. If you’re not already registered, sign up for the Walk TODAY and start fundraising for AS families around the world!

The dollars you raise directly fund important AS research projects and family support services, providing the AS community with better treatments and resources that improve quality of life.

Your efforts also move us closer to our ultimate goal: a cure for AS. To reach this goal, every dollar matters...and it adds up quicker than you think, as every $1 raised by you can produce an additional $2.30 for AS research.

Fundraise TODAY for the 2017 ASF Walk!

DOUBLE YOUR WALK DONATION

Many employers match donations made by employees. Contact your HR department to see if your company offers a matching gift program!

www.Angelman.org

(800) 432-6435

Int’l (630) 978-4245

info@angelman.org

RESEARCH. TECHNOLOGY. WELLNESS.

Will we see you in Phoenix?

Register for the 2017 ASF Family Conference today!

Four days of interactive learning sessions and activities, family-fun events, and plenty of 1:1 opportunities to engage with AS experts and peers will make your trip one of your most meaningful and uplifting AS experiences yet! Plus, we’re going paperless this year, so bring your smart phones and tablets!

Research Symposium July 11-12, 2017 Family Conference July 12-15, 2017

www.Angelman.org

(800) 432-6435

Int’l (630) 978-4245

info@angelman.org

Check out what’s happening at the 2017 ASF Family Conference July 12-15, 2017!

Interactive Sessions • An entire day and special sessions devoted to AS research, clinical trial updates and other news about AS research advancements.

• Another full day dedicated to technology, communications and AAC—a first this year!

• AS experts are designing learning sessions that keep you actively involved.

• Informative breakouts educate you about the latest on many topics, including—just to name a few: Preparing for Medical Emergencies, Changes in Adolescence & Adulthood, Anxiety in AS, and many more!

• Presentations from clinicians who serve you at AS Clinics • “Appy Hour” drop-in sessions that are set up as conversations instead of traditional presentations.

You may “drop in,” get the information you need, then move on to another session!

Day-Long Sibling Workshop • A very special opportunity for siblings of individuals with AS to meet each other and share their real and honest thoughts about their AS experiences…and also have some fun! The workshop offers day-long activities for siblings only, ages 6-18+.

Click here for more details on ALL the resources and events organized for you at the 2017 ASF Family Conference!

Join the Phoenix or Bust! Facebook group to stay up-to-date on all current conference information and changes and to stay connected with other conference attendees. Bring comfy shoes so you can enjoy the Exhibit Hall featuring vendors with products and services that may be of interest to you.

Fun Activities and Optional Events • Yoga Classes Every Morning • Glow Golf • Parents’ Night Out (21+) • “Champagne Wishes & Sweet Dreams” special event recognizing the AS community’s shining stars • A Fabulous Stay at Arizona Grand Resort & Spa— water parks, golf courses, full-service spa, and more!

1:1 Family Resource Team Appointments—all NEW this year!

• Schedule 1:1 appointments with ASF Family Resource Team members to help answer your questions about: – Government benefits – Insurance issues – IEP questions – Access to adult services (employment, housing and transportation) – Durable medical equipment and goods acquisition – Health and therapy services – In-home supports and services

REGISTER TODAY Click here for the Registration Checklist and to begin Registration.

Full Family Conference Registration: Free Research Symposium Registration: $275 per person until July 1 and $325 after July 1. T-shirts, Champagne Wishes & Sweet Dreams reception and 2 Nights Out are optional activities that have a cost.




Helpful Products 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.

Child ID Tattoos Quick Stick Write-on

Helping Hands Fine Motor Set

WIKE Moonline Bicycle Trailer

ARK's Z-vibe Sensory Oral Motor Kit

Fun and Function Cool Stem Silicone Motor Exploration Toy ANGELMAN TODAY | 16

Penn gene therapy pioneer teams up with FAST in race to cure Angelman syndrome Downers Grove, Ill. (Feb. 14, 2017) – A pioneer on the frontier of genetic medicine and his team at one of the nation’s top-five medical research schools have joined forces with FAST (Foundation for Angelman Syndrome Therapeutics) to develop a treatment for the rare disorder Angelman syndrome.

Researcher James M. Wilson, M.D., Ph.D., has been working for three decades to develop effective strategies to treat and cure genetic diseases. Wilson directs the Orphan Disease Center (ODC) in the Perelman School of Medicine at the University of Pennsylvania, which focuses on making rare disease research a priority.

The partnership with FAST is a natural.

Angelman syndrome is a neuro-genetic disorder affecting one in every 15,000 individuals, totaling about 490,000 people worldwide. It is often misdiagnosed as autism or cerebral palsy. AS is generally diagnosed in children within their first two years of life and is characterized by debilitating seizures, balance and motor impairments, and a lack of speech. But Angelman syndrome is not a degenerative disease. Rather, it is caused by a lack of function of a single gene, and scientists like Wilson believe that symptoms of the disorder could be reversed using gene therapy.

FAST is a nonprofit organization founded by Paula Evans, an Illinois mother whose daughter was diagnosed with Angelman syndrome. FAST raises money to fuel cutting-edge research and takes an active role in drug development to treat, and ultimately cure, the disorder.

Through Evans’ leadership, FAST has built relationships with researchers at multiple universities. Wilson and Penn’s Orphan Disease Center is the latest research laboratory to join the FAST team.

FAST will provide funding to Wilson and his team to develop an effective gene therapy strategy for the treatment of Angelman syndrome.

“By combining the Orphan Disease Center’s experience in novel therapeutics with the tremendous progress made

by FAST and its families, caregivers and scientists,” Wilson said, “we have set the stage for a very aggressive and exciting research and development plan.”

FAST’s partnership with Wilson and his team is an important milestone for the Angelman community. Wilson has emerged as a leader in the field of gene therapy and continues to be at the forefront of genetic innovation. Two years ago, Wilson was recognized as one of 12 leading pioneers in cell and gene research with the Pioneer Award given by Human Gene Therapy, a peer-reviewed journal of the medical research community. George Dickson of the University of London, Surrey, recently heralded Wilson’s work, saying: “His unparalleled contributions to the adenoviral and AAV vector fields over more than 25 years have been profound and seminal.”

Wilson has focused his lab on the development of novel virus-like particles called vectors that can carry replacement genes into the body, one of which has been used to treat a rare form of pancreatitis and became the first gene therapy product approved in the Western hemisphere. The ODC is currently developing novel gene therapy approaches for more than 20 rare diseases.

Wilson’s decision to take on Angelman syndrome as his next project is significant news for the gene therapy community and families affected by Angelman syndrome.

“All of the board members of FAST are parents who are working toward breakthrough treatments for our children,” said FAST Chief Scientific Officer Dr. Allyson Berent. “To have an accomplished visionary researcher developing a potential gene therapy treatment for AS indicates we are closer than ever to our ultimate goal.

Dr. Wilson and the team at Penn have such a successful track record in the field of gene therapy, and we are beyond enthusiastic that, for our children, the time is now.”

Wilson agrees that there are reasons to be hopeful.

“We are entering a remarkable era of gene therapy research that will accelerate its development,” he said.

“After 30 years of science, we have the technology and know-how to safely and efficiently transfer genes into human cells. Our goal is to develop a gene therapy for AS to replace the gene in children who are lacking a functional copy.”

T’s and Stickers Now Available!

Order online here ANGELMAN TODAY | 20

#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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Products To Help You Get Started On The High-Fat Low-Carb Diet We will start with healthy fat options that may not be so easy to find at your local grocery store. It is important to note that when starting a high fat therapeutic diet make sure you are being followed by a medical professional and using the best quality of fat sources. Here are links to order on amazon.com to get it delivered right to your front door.

Organic Coconut Cream

Grass Fed Butter

Avocado Oil Mayo

Organic Ghee

Coconut Oil

MCT Oil

Extra Virgin Olive Oil

Roasted Walnut, Hazelnut Avocado Trio Oils

Duck Fat

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Stay Cool This Summer!

HyperKewl Evaporative Cooling Vest

Seatbelt Alert QR code links to a live profile.

Making it easy for first responders to get vital information about the individual. Order online www.IfiNeedHelp.org

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Join Angelman families from across the US, Canada, and Mexico for a day of fun and community.

Register online at www.angelman.org/walk

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CONTRIBUTORS

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

/AngelmanToday All Of The Angelman And Associated Foundations Angelman Syndrome Alliance Angelman Syndrome Foundation AFSA -French Association of Angelman Syndrome Associacao Síndrome de Angelman Portugal

/AngelmanToday

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

/AngelmanToday

KayserBetten Secure Sleep Systems www.KayserBettenUS.com Lifetrients www.lifetrients.com

Angelman Today

STAY CONNECTED ANGELMAN TODAY | 25

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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Our Partners - International Angelman and Associated Foundations 


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