Angelman Today July 2016

 

Digital Edition

Resources | Research | Inspiration The Quebec Angelman Syndrome Foundation Canadian Angelman Syndrome Society Conference

Summer Fun

CONTENTS NEWS 03. Editor’s Letter 04. Upcoming Events 07. Seizure Tracking App And Tips For Staying Hydrated 08. If I Need Help Product And Discount Code 13. Pool Safety And SoSecure Swim Briefs 20. The Low Glycemic Index Treatment for AS And Prader-Willi Syndrome 22. Trend Community AS Diet Initiative 23. Life With An Angel 26. Contributors 27. The History of Angelman Syndrome

ANGELMAN AND ASSOCIATED FOUNDATIONS 04. CASS - Canadian Angelman Syndrome Society 2016 International Conference 04. The Charlie Foundation’s 5th Annual Global Symposium 09. International Science Conference - Associacao de Angelman Portugal and Angelman Syndrome Alliance 11. The Angelman Respite Center - The Quebec Angelman Syndrome Foundation 14. The Angelman Syndrome Foundation 24. Save the date for the 2017 ASF Conference 28. Our Partners

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EDITOR’S LETTER  

This July 2016 marks the third anniversary of the very first edition of Angelman Today. The international reach and circulation of the magazine has been astounding, especially considering the topic of a rare neuro-genetic condition. This year we began publishing quarterly and strive for every edition to be better than the last. We want to provide you the reader with latest global news regarding Angelman Syndrome. As many of you may know, most Angelman organizations are run by fellow Angel parents and as parents and caretakers can only understand how difficult it is to carve out the time from our families and most importantly our Angels that require constant supervision.

It is the passion that has ignited our efforts to raise our voices, fundraise for scientific research and stretch our figurative hands across the globe to connect and share this information with you, the reader, the parent, the caretaker, the

physician, the student researching AS, and the scientific researcher. Yes, I have been contacted by all of them. I have responded to your emails and international phone calls.

I am absolutely tickled when I have received emails from France, Australia and New Zealand in the same day. As a parent to a child with AS, understanding his condition was rare and never knowing if I would meet another family that could share my experience. It truly gives me joy!

In every edition I do my best to pass my joy onto you. Collectively, we have created the magazine that I wished was available that lonely day my son was diagnosed.

Summer is in full effect here in Florida, I

hope you all are enjoying the weather where you are. Make sure to stay hydrated. In this edition we have some practical tips to avoid dehydration. I have found this to be very important for my son Nathan (AS del +), who will dehydrate easily and body temperature will rise without illness. Bright red lips and red ears are signs that I notice with Nathan when I need to increase his electrolytes.

Enjoy this edition of Angelman Today and I also invite you to participate. Send me a topic that you would like us to cover, send me your family story, include pictures or refer us to a newly diagnosed family that you just met.

Lizzie Sordia Editor-in-Chief Email: Lizzie@angelmantoday.com Twitter: @LizSordia ANGELMAN TODAY | 3

UPCOMING EVENTS

Upcoming Angelman Conference

Save the Date -- CASS Conference in 2016!

Conference Co-chairs Terry Singleton and Kent Fleming advise newsletter readers that the CASS Board has approved the Double Tree by Hilton in Edmonton as the venue for the 14th International Conference of the Canadian Angelman Syndrome Society, scheduled for 13 to 16 July 2016.

The Registration Booklet PDF is now available to download here.

It is full of information which will allow you to start making plans to attend. It is the work of the 2016 Conference Committee made up of CASS Board Members and CASS Community Relation Committee members led by CoChairs, Terry Singleton and Kent Fleming.

www.care.com

Upcoming Conference

The Charlie Foundation’s 5th Annual Global Symposium on Ketogenic Therapies September 20-24, 2016 For more information visit www.CharlieFoundation.org

We are pleased to announce that CASS has contracted Alberta AdaptAbilities to provide management of the Kids’ Program at our upcoming Conference, “Prospecting for Possibilities” scheduled from 13 to 16 July 2016 in Edmonton. Click here to download the 3 day program.

We look forward to welcoming you to an informative and enjoyable conference.

Please stay tuned to the CASS website for News Flash Updates on this exciting event! www.angelmancanada.org ANGELMAN TODAY | 4




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Upcoming Event   Dear Parent/Caregiver: Many families of individuals with Angelman syndrome struggle to cope with challenging and difficult to manage behaviors. These behaviors can have a major impact on family life and also prevent the individual from participating fully in activities at home, school or in the community.

The Canadian Angelman Syndrome Society (CASS) and the Angelman Syndrome Foundation (ASF) have created a series of instructional modules to help families understand and address challenging behavior in individuals with Angelman syndrome.

These modules can be accessed at www.angelmanbehaviors.org.

We would like to enhance these modules by adding video clips of individuals with Angelman syndrome engaging in challenging behavior and demonstrating options for what parents and caregivers may do differently in these situations. In order to do so, we are seeking families who are attending the CASS conference in Edmonton and are willing to be videotaped interacting with their son or daughter and receiving coaching on Wednesday July 13 and/orThursday July 14, 2016.

If you are interested in volunteering to participate in videotaping during the CASS conference, please indicate you would like to participate by sending an email message to info@angelman.org. We will then get back to you with further details.

Please take a moment to respond to this very short survey regarding behaviors that are most concerning for you and your family. https:// www.surveymonkey.com/r/ ChallengingBehaviors_AS This survey will close on Friday, June 24, 2016 at 11:30 p.m. CST. Thank you in advance for considering this important opportunity to help the Angelman community.

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Stay Hydrated This Summer!

Here are some excellent options: -Chilled water with lemon -Coconut water (no added sugar) -Electrolyte powders added to water -Watermelon -Cucumbers Avoid: Carbonated Cola’s Fruit juices with added sugar ‘Sports’ drinks loaded with sugar and food coloring

! t i t e We g

We understand!

Click here to download from the App Store Birdhouse for Epilepsy – Track seizures, identify triggers, & organize important health information for yourself and loved ones Simplify & organize your own care or someone else's by helping you identify seizure triggers, keep a medication log, evaluate diets, & ensure you're on the path to success.

Birdhouse for Epilepsy is the newest app from the creators of 5-Star Birdhouse for Autism. Birdhouse apps have been featured on Parents.com, HuffingtonPost, Smart Apps for Special Needs, Generation Rescue, Autism Speaks, The Friendship Circle, and more!

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Keep Them Safe.

Free membership to special needs caregiver controlled registry.

Save 5% on your first purchase using promo code: Angelman Today Check out Lizzie’s video interview with the creators of If i Need Help and learn more about this product. https://youtu.be/mmdUmirS5FI

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14400 Boul Gouin O., Pierrefonds, QC, H9H 1B1 www.angelman.ca

A Look Inside The Angelman Respite Centre

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ASF National Walk: Hope Never Ends 41 Walk Sites Across North America Walk Together for Hope

Nearly 10,000 members of the AS community joined forces this past May for the Angelman Syndrome Foundation’s National Walk held in 41 cities across North America. Each Walk site was full of smiles, fun and excitement as individuals with AS, alongside family and friends, crossed the finish line!

Capitola, CA

Because of the tremendous efforts by our Walk Coordinators, families, friends and community members we are well on our way to reaching our $1.41 million fundraising goal! THANK YOU – ‘Hope Never Ends’ BECAUSE OF YOU!

Chicago, IL

Houston, TX Huntsville, AL

Atlanta, GA

Indiana polis, IN

Atlanta, GA

MA Boston,

Olathe, KS Buffalo, NY

www.Angelman.org

(800) 432-6435

Int’l (630) 978-4245

O Lake of the Ozarks, M

info@angelman.org

2016 Walk Coordinator Spotlight Our Walk coordinators are true ROCK STARS – dedicating their time, talents and effort into creating amazing events for the AS community! Take a look at the individuals who made this year’s event possible by clicking the video to the right. From the entire AS community, we say THANK YOU to all our hard-working Walk coordinators!

Linden, MI

Los Angeles, CA

Louisville, KY

Las Vegas, NV

wn, NY o t e l d d i M ity Mexico C

Columbia, SC

Cincinnati, OH

X Dallas, T

Denver, CO

ASF National Walk: Hope Never Ends

Durham, NC Eugene, OR

Ontario, Can ada

CT Hartford,

Milwaukee, WI

Orlando, FL

Nashville, TN

Rye, NY

Philadelphia, PA

www.Angelman.org

(800) 432-6435

Int’l (630) 978-4245

info@angelman.org

Help reach the goal - Donate TODAY! Funds raised at the ASF National Walk are critical in funding family support services and vital research that will lead this community to a cure.

There is still time to support the mission and join our community in funding life-changing AS research. Click here to make a general donation to the ASF Walk, or click here to donate to a specific person or team.

Salt Lake City, UT

San Diego, CA

TN Smokey Mountains, Seattle, WA

Twin

MO , s i u o L . t S

MN , s e i Cit

Z Tempe, A Wichita, KS Washington, DC

ASF-Funded Research: Progressing Towards a Cure Important information about Angelman syndrome research Did you see the video?

Because of your support, the Angelman Syndrome Foundation has invested more than $8 million in AS research. Click the image below to watch a short video about how ASF-funded research has created treatments for symptoms of Angelman syndrome and how research is progressing towards our ultimate goal: a cure.

Working together to find a cure...

Academic Researchers appro

ved

With funding, Academic Researchers Test the hypothesis in mouse models.

The path towards a cure The infographic illustrates how a clinical trial comes to life. Research needs funding in order to progress, and a majority of the funds raised at the ASF National Walk are invested directly into AS research. Viable research then grows (over time) into potential treatments, which have already become a reality for the AS community!

Proof of Concept

Save the Date for the 2017 ASF Conference!

The ASF Scientific Symposium & Biennial Conference— families’ ultimate resource for all things AS—will take place July 10-16, 2017 at the Arizona Grand Resort & Spa. The cost is $110/night for each hotel suite, and you can click the following links to download the Conference Budgeting Sheet in PDF and Excel formats. Join the ASF Conference Facebook group for updates and information about the Conference!

angelman syndrome foundation

www.Angelman.org

Collaboration

BIENNIAL CONFERENCE

(800) 432-6435

Int’l (630) 978-4245

info@angelman.org

ASF Supporters Are Doing Amazing Things!

Don’t miss the opportunity to support these incredible individuals Wheeling for Wings Kellen Hassell, father to 4-year-old Luc who is diagnosed with Angelman syndrome, is undertaking an incredible feat in Florida’s summer heat! From July 31-August 6, Hassell will bike more than 1,000 miles from Miami to Chapel Hill, NC to raise awareness and funds for AS—we are so proud of him!!

We hope the AS community will show him love and support as he takes this amazing journey on behalf of his son, and all people with AS. Hassell is a professor at International University in Health & Human Services, and has been inspired by AS-researcher Dr. Philpot at University of North CarolinaChapel Hill, prompting him to conceive this bike ride and its final destination.

Support Kellen Hassel here! There will be daily cheering spots along his route.

If you are interested in participating, contact Kitty Murphy: kmurphy@angelman.org Click the image below to watch a video about what inspires Hassell and his family’s life with Angelman syndrome.

Meet your 2016 Chicago Marathon Runners!

Lead by the indomitable Kyle Rooney (remember #Summit4Angelman?), a team of four fabulous runners have formed the “Windy City Angels” and will participate in the 2016 Bank of America Chicago Marathon to raise awareness and funds for AS! While running 26.2 miles may seem unachievable to many, the Windy City Angels are ready for the challenge—and with each step they take, they are helping us get closer to our ultimate goal of a cure for Angelman syndrome! Meet your fabulous runners below, and stay up-to-date with them on the ASF’s website and Facebook page.

Robin Cruze St. Cloud, MN Younger brother, David (20), is diagnosed with AS

Kyle Rooney—Team Captain Minnetonka, MN Son, Madden (2), is diagnosed with AS

Ryan Rooney Des Moines, IA Brother to Kyle Rooney Nephew, Madden (2), is diagnosed with AS

Blayne Shelton Atlanta, GA Daughter, Audrey (8), is diagnosed with AS

Are you (or is someone you know) participating in the 2016 Bank of America Chicago Marathon? Make it even more memorable -- join the Windy City Angels Team!

Contact Kitty Murphy for more information: kmurphy@angelman.org.

Click here to support the Windy City Angels today!

The Low Glycemic Index Treatment for Angelman Syndrome and Prader-Wili Syndrome

By Sybille Kraft Bellamy

Mother of Maxent, AS 14 years old.

Thirteen years ago in July 2003 Maxent was diagnosed with Angelman syndrome (AS), he was 18 months old.

Today he is a handsome teenager in excellent physical condition with no medical issues.

Nevertheless, this was not always the case. From infancy to his toddler age he was chronically sick and he spent more time in the hospital than at home. Very quickly I had the certitude that diet should be the best accessible and fastest way to help him.

Following my own observation and encouraged by Max’s pediatrician (and later by our neurologist), I started paying attention to his diet and removed most of the simple carbohydrates and insisted on replacing them with all kinds of fats.

The change confirmed that my maternal instinct about Max’s incapacity to deal with blood sugar fluctuation was correct.

The low carbohydrate/high fat diet was and will always be his first line of treatment like many other patients with severe disorders.

My confidence and enthusiasm in nutritional therapy is being shared by many parents.

Unexpectedly, a couple of years ago when I was put in contact with Maria Picone (through Gary Taubes) I had an immediate connection. We felt that many of our everyday battles were very similar, and our energy and desire to share our success with the diet with our community was a necessity.

Maria’s daughter, Tea, has Prader-Willi syndrome (PWS). I had the pleasure to meet her in her school with her friends and teachers and I was truly impressed by her personality.

She is a beautiful, smart little girl full of energy and very talkative!

Angelman syndrome and Prader-Willi syndromes were the first imprinted genetic disorders to be described in humans. Both syndromes are associated with loss of the chromosomal region 15q11-13( band 11 of the long arm of the chromosome 15).

This region contains the paternally expressed genes SNRP and NDN and the maternally expressed gene UBE3A. ANGELMAN TODAY | 20

Have you read The Angelman Syndrome Communication, Education and Related Considerations? We would like to hear from you.

Check out the next edition for a book review.

Purchase the ebook here:

http://ebooks.benthamscience.com/book/9781681081168/ http://www.eurekaselect.com/137434/volume/1

Printed version:

http://www.eurekaselect.com/order-print-version/137434

Librarians:

http://www.eurekaselect.com/order-ebook/137434

Paternally inheritance of a deletion of this region is associated with PWS characterized by hypotonia, obesity and hyperphagia. Maternally inheritance of the same deletion is associated with AS (characterized by epilepsy, tremors and sleeping disorders). * https://en.wikipedia.org/wiki/Genomic_imprinting * http://www.ncbi.nlm.nih.gov/pubmed/11180221 In fact, many children with AS present typical characteristics of PWS, like an insatiable appetite and hormonal disorders. Also, some children with PWS suffer from epilepsy, also very common in AS. It is well-known that patients with AS greatly benefit with therapeutic diets but it appears that patients with PWS do as well.They have better appetite control and a better body muscle mass repartition.The diet is beneficial for both syndromes, on a physical and cognitive aspect.

Many studies around the world confirmed the positive result on the diet with a better control of the epilepsy, however the full extent of the diet with some syndromes is not well known because of the lack of data.

Patients and their caretakers need a data bank where they can have access to information concerning specific medical protocols and observations from patients and professionals from the medical field.

TREND Community was created to give patients a place to share their stories and contribute real-world data that will inform other patients, clinician, scientists and researchers. It is turning anecdotes into evidence.

TREND Community Initiatives connect its patient   communities with leading specialists to collectively evaluate the effectiveness of specific therapies, diet or other environmental interventions. The Angelman Syndrome Diet Initiative is the first initiative for the Angelman community.

The AS Diet Initiative will introduce a group of individuals with AS to a pre-ketogenic diet and track patient-reported outcome measures hunger, cognition, behavior, energy, body composition and quality of life. This specific investigation of AS ketogenic diets is a wonderful opportunity to bring new hope for many patients and their families.

The diet Initiative will be carried out under the guidance of Beth Zupec-Kania, RDN from the renowned Charlie Foundation.

I will have the pleasure to bring my expertise of Angelman syndrome and diets. I will share all the positives outcomes I obtained with LGIT/MCT but also provide caution and reminders that this is a medical diet and must be done under the supervision of your doctor.

The AS Diet Initiative is sponsored by Gary Taubes, co-Founder and Director of Nutrition Science Initiative (NuSi), and Robert Goldstein.

We are extremely thankful to Gary Taubes and his ongoing support to help us spread awareness of the wonderful effect of the diet on our children health.

If you would like to learn more about AS Diet Initiative or request an invitation to join send an email to interested@trend.community ANGELMAN TODAY | 21




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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.

Get social with us a share your pics using #LifeWithAnAngel

Save the Date!

The Angelman Syndrome Foundation is thrilled to announce the 2017 Scientific Symposium and Biennial Conference—your ultimate resource for all things AS. ASF Scientific Symposium and Biennial Conference July 10-16, 2017 Arizona Grand Resort & Spa Thank You for Your Input!

Thank you to everyone who voted in the 2017 Conference location survey. The Arizona Grand site in Phoenix was chosen based on input from the AS community, and the ASF Conference Planning Team is hard at work planning the most engaging and beneficial programs and activities for all attendees.

Plan ahead!

The room rate for the Arizona Grand is $110/ night. Use the Conference Budgeting Sheet in Excel or PDF formats to start planning for your trip to Phoenix today.

For those who plan on attending, join the ASF Conference Facebook group! This is where attendees will have the opportunity to discuss amongst themselves all things Conference related.

Many more details to come so stay tuned for future ASF Conference updates!

 

 

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CONTRIBUTORS

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

/AngelmanToday All Of The Angelman And Associated Foundations The Charlie Foundation CASS - Canadian Angelman Syndrome Society Angelman Syndrome Alliance Angelman Syndrome Foundation AFSA -French Association of Angelman Syndrome Angelman Syndrome Association Australia Síndrome de Angelman Mexico

Sponsors If i Need Help www.IfiNeedHelp.org

/AngelmanToday

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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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Our Partners - International Angelman and Associated Foundations Together, we can bring you the latest information in one easy resource.

 

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