Angelman Today October-December 2016




Digital Edition

Resources | Research | Inspiration

Holiday Gift Ideas

New Year Cover Contest

Seizure

Tracker

CONTENTS NEWS 03. Editor’s Letter 04. Upcoming Events 05. Epilepsy Awareness 06. New Year Facebook Photo Contest 07. Seizure Tracker App Review 08. Halloween Cards And Stickers 09. Meet Max - Seizure Free Because Of LGIT

Holiday Gift Ideas

10. Meet Josh - Seizure Free Because of CBD Oil 11. Holiday Gift Ideas 12. If I Need Help Product And Discount Code 23. Harvard Music Research 26. Coconut Yogurt

New Year Cover Contest

28. #LifeWithAnAngel Video 31. The History of Angelman Syndrome

ANGELMAN AND ASSOCIATED FOUNDATIONS 13. The Angelman Respite Centre - Quebec Canada 16. Angelman Syndrome Foundation 21. Save the date for the 2017 ASF Conference 22. The Charlie Foundation Spring Summit 32. Our Partners

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EDITOR’S LETTER

The last quarter of the year is upon us and it never ceases to amaze me how fast time passes and although I enjoy the rollercoaster of events through the year the rhythm of time seems to slow, allowing me to simultaneously reflect and with eagerness and excitement plan for a new year.

November is Epilepsy Awareness month and I would like to talk a little more about the importance of this. We understand that statistically the majority of individuals with Angelman Syndrome have epilepsy. When my son Nathan was first diagnosed with epilepsy, before the age of 2 (even before the AS diagnosis), the severity of it was never explained to me. In fact, it was rather dismissed as if complications were a rarity. I did not know, but had to painfully learn that my son, who fought so hard to learn to walk and took his first steps at 2 and a half, would lose the ability due to uncontrollable seizure activity for months. A series of epileptic episodes also caused him to have to relearn to drink from a cup. We spent 6 months relearning how to do what most people can do without even thinking about it.

The ultimate lesson that we had to painfully learn was of the potentiality of epilepsy being life threatening. Even after his diagnosis of Angelman Syndrome the risk factor for his already very difficult to control epilepsy was never even mentioned. It wasn’t until we were again in the hospital and the seizures were again uncontrollable and happening one after another. He was hooked up to an EEG, a heart monitor and oxygen monitor. The staff rushed in, his monitor alarms began to sound. His heart rate that was once racing began to drop. I saw the nurses face fill with fear as she moved his entire body from side to side and said to him to “Stay with me”.

Today I am so grateful for having found the low carb, high fat therapeutic diet for Nathan because we now have excellent control of his seizures. Of all of his previous seizure triggers, only one remains. The first sign of illness is the only one that sends my mind back to that day and fills my heart with fear.

With each passing illness we are more controlled and moving farther and farther away from seizure activity.

This month, along with awareness of epilepsy and it’s risks, I also need to raise awareness about the solution we have found.

“Complaining about a problem without proposing a solution is called whining” - Teddy Roosevelt

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

Angel on the cover: Grace Blankenship, age 9

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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.

Upcoming Conference

Spring Summit on Ketogenic Diet Therapies for Epilepsy and other Neurological Disorders March 11-12, 2017 Phoenix, Arizona Tell your Health Care Practitioners For more information visit: barrow.phoenixchildrens.org/KD2017

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Epilepsy Awareness

NOVEMBER IS EPILEPSY AWARENESS MONTH Did you know?

• 1-10 People in the US have had a seizure?

• The majority of individuals with Angelman Syndrome have epilepsy?

• Therapeutic diets like the Ketogenic diet or the Low Glycemic Index diet can be used as first line of treatment but are rarely recommended.

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New Year Cover Contest Only on Our Biggest and Funnest photo contest is BACK! -Enter a picture of your loved one with Angelman Syndrome.

www.facebook.com/angelmantoday

-Get your friends and family voting and your Angel could end up on the cover of the January edition of Angelman Today!

-Make sure you “Like” our Facebook page and watch for details coming this December!

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Resources

Birdhouse For Epilepsy - Track Seizures App Review

By Lizzie Sordia  

https://www.youtube.com/watch?v=W-pBKQSRxaQ

Birdhouse for Epilepsy – Track seizures, identify triggers, and organize important health information for yourself and your loved ones.

Click here to download from the App Store

Birdhouse for Epilepsy is the newest app from the creators of 5-Star Birdhouse for Autism.

Simplify and 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.

A parent and/or caretaker will get the most use with the full version of this app as it helps in these most important areas: -Accurately track seizure information -Become aware of triggers -Track sleep patterns -Track diet -Generate insights and reports -Share data The Track Seizures app will help you keep track of exactly everything happening with your loved one so it can be accurately discussed with the caring physician. The more information that we can provide our physicians, the better they will be able to understand what is happening and offer the best treatments.

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Download and print these cards and stickers to help create understanding and encourage participation this Halloween. http://www.angelmantoday.com/trick-or-treat-i-may-not-speak/  

https://youtu.be/8QkuS1Tjbgk

Have you seen teal pumpkins like this in your neighborhood?

https://www.youtube.com/watch?v=De9h-dEya-A

  Frequently asked questions about Low Glycemic Index Treatment (LGIT) Edited by Heidi H. Pfeifer, RD, LDN, Clinical Dietitian at Massachusetts General Hospital 1. What is the Low Glycemic Index Treatment (LGIT)?

The LGIT is a special high fat diet similar to the ketogenic diet that is used for difficult to treat seizures. It focuses on both the type of carbohydrate, low glycemic index, as well as the amount of carbohydrate based on portion sizes and household measurements. The glycemic index (GI) is a measure of the effect of carbohydrates on blood sugar levels.

When carbohydrates are digested, they release glucose into the bloodstream. Carbohydrates that digest rapidly have a high GI. Carbohydrates that are digested slowly have a low GI. Foods are rated based on their GI values ranging from zero to 100.

The LGIT includes foods that have a GI of 50 or lower. In addition to the GI, the digestion of a carbohydrate food is slowed by foods that are eaten at the same time that contain either fat or fiber.

Therefore, meals are balanced with sources of fat, protein and a low glycemic index carbohydrate.

For more information visit: https:// www.charliefoundation.org/explore-ketogenic-diet/ explore-2/lowgycemicindex ANGELMAN TODAY | 9

Josh is 2 years old, he was diagnosed with Angelman Syndrome and having seizures every week.

Video of his journey coming soon to our YouTube Channel!

Thanks to CBD Oil (Cannabidiol)

he has been seizure free FOR OVER 


1 YEAR! ANGELMAN TODAY | 10

Holiday Gift Ideas

ARK’s Z-Grabber Vibrating Oral Motor Chew Tool

WolVol Musical Activity Cube Play Center with Lights

Ocean Water Pad 90”x 70”

Outdoor Inflatable Lounger Nylon Fabric Beach Lounger

Merax Adjustable Fabric Folding Chaise Lounge Sofa Chair Floor Couch ANGELMAN TODAY | 11




Keep Them Safe As They Head Back To School Free membership to special needs caregiver controlled registry.

Save 5%

on your first purchase using promo code: Angelman Today

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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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#LifeWithAn Angel

Latest ASF-funded research Three groundbreaking studies thanks to the AS community’s support!

Funds from the 2016 ASF Walk helped fund three exciting studies.

Click below to hear directly from the researchers about their projects!

Unsilencing Ube3a—Dr. Mark Zylka, UNC-Chapel Hill

Evaluating anxiety in individuals with AS—Dr. Christopher Keary, MassGeneral Hospital for Children

Want to learn more about ASF-funded research?

Understanding the ability for learning improvement if Ube3a is restored in a later life stage—Dr. Geeske van Woerden, Erasmus MC, Rotterdam, The Netherlands

www.Angelman.org

(800) 432-6435

Click here to visit the ASF’s website and learn more about recent ASF-funded research that is moving us closer towards therapeutic treatments and a cure.

Int’l (630) 978-4245

info@angelman.org

Make a “Splash” with the ASF in Phoenix!

2017 ASF Family Conference Can Be a Fun Vacation for the Whole Family!

Research Symposium July 11-12 | Family Conference July 12-15

Will YOU Be on The Map? Arizona Grand Resort & Spa: Rated the #1 Staycation Spot in Arizona!

Book your trip TODAY and save money by using our FREE budget planner!

And don’t forget to join our “Phoenix or Bust!”

Facebook group for conference updates and to discuss plans with other attendees.

• Your entire family can enjoy the hotel’s fabulous amenities, such as: • Relaxing and revitalizing spa services • A top-10 fitness facility in Arizona: Fitness classes, indoor racquetball, heated lap pool, and more!

• The “Oasis Water Park” is voted by Travel Channel as one of the top-10 water parks in the country!

Our FUNdraisers are so creative!

Many thanks to these individuals for their incredible hard work in support of the AS community Wheeling for Wings: 1,000 miles for AS research

Kellen Hassell, father to Luc, who is diagnosed with AS, rode his bike for 1,000+ miles from Miami to Chapel Hill to raise awareness and funds for AS research. He BLEW PAST his fundraising goal and raised nearly $19,000 for AS research! Click here for more about Kellen’s story.

10th annual tractor cruise a SUCCESS!

Photos courtesy of Hiawatha World Online.

www.Angelman.org

(800) 432-6435

Int’l (630) 978-4245

Keith Olsen and his family are ROCK STARS! They hosted their 10th annual tractor cruise on Labor Day, raising important funds for AS research, and their story reached THOUSANDS through the media! A total of 22 cities across the country picked up the TV news story out of Kansas and ran it in their own markets, blanketing the country with a fun, unique story about Angelman syndrome and the tractor cruise for research!

info@angelman.org

FUNdraisers, cont.

Celebrity Poker Tournament coming up Dec. 10th The Harvey family, who has a daughter with AS, is renowned in the baseball world, with several members having played Major League Baseball. They are hosting a celebrity poker tournament to raise money and awareness for AS research.

Click here for more about this year’s door prizes, high-stakes poker, great food and drinks, and more!

Also, click here to watch a quick video about the Harvey family’s previous poker event.

Lemons into lemonade for AS A group of young ladies in Wisconsin hosted a lemonade stand and bake sale after meeting Chase, a young boy diagnosed with AS and son of Stacy Cefalu. The ladies just met Chase earlier this year and chose AS as their charity for this year! Many, many thanks to these young ladies for their support!

A donation was made in your honor— at a wedding!

Amy and Scotty—two newlyweds from Michigan—made a donation to the ASF in honor of their wedding guests. They made place cards so all the guests would know that a gift was made in their honor. Amy’s sister, Sarah, is diagnosed with AS, so this is near and dear to their families’ hearts!

You can still support the Windy City Angels!

The Windy City Angels—our team of runners that participated in the 2016 Bank of America Chicago Marathon in October—can still use your help! You have until November to make a donation in support of their team and AS research. Click here for more.

Many thanks to our runners—including marathon, 5k and virtual 5k— for setting the pace in great support of ASF families!

Resources at your fingertips Did you know all of these are available to you?

Take advantage ofathese materials provided The ASF invests in variety of resources to specifically for you to better manage life with help families better manage life with Angelman Angelman syndrome. Click the boxes below to syndrome. Check them out below! find all the resources and people that stand ready to assist you!

www.Angelman.org

(800) 432-6435

Int’l (630) 978-4245

info@angelman.org

July 12-15, 2017

July 11-12, 2017

ASF FAMILY CONFERENCE

ASF RESEARCH SYMPOSIUM

DON’T MISS THE

ULTIMATE AS EXPERIENCE 2017 ASF RESEARCH SYMPOSIUM AND FAMILY CONFERENCE Join us for the next Research Symposium and Family Conference at the Arizona Grand Resort & Spa in sunny Phoenix! There you’ll have all the tools to EMPOWER YOU to create the future you imagined for your loved one with Angelman syndrome.

• Hands-on workshops and interactive opportunities with speakers • Tech-focused AS resources • On-demand info via the NEW Conference app • Many more stimulating activities and learning opportunities!

Book your stay today!

There are no registration fees to attend the Family Conference Sessions (July 12-15).

Plan ahead with My Budget Planner

For ALL THINGS CONFERENCE, join our Facebook conference group!

Spring Summit on Ketogenic Diet Therapies for Epilepsy and other Neurologic Disorders March 11-12, 2017 Phoenix, Arizona The Spring Summit on Ketogenic Diet Therapies for Epilepsy and other Neurologic Disorders features nationally prominent speakers, presenting topics and case studies on the use of ketogenic diet therapies for epilepsy and other neurological disorders. While the benefits of the ketogenic diet are tremendous, there are risks, challenges and no one‐size fits all solution. The ketogenic diet is custom designed to fit each patient and requires ongoing adjustments.

Day one of the conference sets the table with the history, science, and variations of ketogenic diet therapies along with where research is breaking ground in its usefulness. Day two builds on this, by allowing meaningful discussions with thought‐provoking panels and an interactive case based workshop.

For Additional Information and a Complete Program visit: barrow.phoenixchildrens.org/KD2017

Saturday, March 11 Critical Updates History and Evolution of the Ketogenic Diet The Science Behind the Ketogenic Diet Variations in Ketogenic Diet Therapies Nutrition Supplementation Best Candidates for Ketogenic Diet therapy Case Studies on Ketogenic Diet Selection

Sunday, March 12 What I Wish I Knew Interdisciplinary Roles in a Ketogenic Diet Program: Panel Discussion Open Panel Discussion on Status Epilepticus in the ICU EHR Technology to Improve Patient Safety and Quality Key Knowledge when Caring for a Patient on Ketogenic Therapy Labs and Adverse Side Effects of the Ketogenic Diet Interactive Workshop of Varied Diet Implementation

Course Credit

Keynote Speaker

Jong M. Rho, MD

Dr. Rho, Professor, Department of Paediatrics, Clinical Neurosciences, Physiology and Pharmacology; Section Chief of Paediatric Neurology, Alberta Children’s Hospital; Dr. Robert Haslam Chair in Child Neurology, Cumming School of Medicine, University of Calgary

Special Invited Speaker Raman Sankar, MD, PhD

Dr. Sankar, Professor of Neurology and Pediatrics and Chief of Pediatric Neurology at the David Geffen School of Medicine at the University of California, Los Angeles. Rubin Brown Distinguished Chair in Pediatric Neurology

Speakers

Angus Wilfong, MD • Matthew Troester, DO • Randa Jarrar, MD Brain Appavu, MD • Jack Kerrigan, MD • Korwyn Williams , MD Vinay Vaidya, MD • Paul Liu, MD •Adrienne Scheck, PhD • Nina Farhoudi, PharmD • Beth Zupec Kania, RD • Heidi Pfeiffer, RD Lisa Vanatta, RD • Leonora Renda, RD • Christy Wheeler, RD Nancy Quay, RN • Ashley Rollins, RN • Dawn Marie Martenz

Phoenix Children’s Hospital is accredited by Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.

Commission on Dietetic Registration the credentialing Agency for the Academy of Nutrition and Dietetics to award Continuing Professional Education (CPE) credits.

Phoenix Children’s Hospital is an approved provider of nursing continuing education by the Arizona Nurses’ Association, an accredited approver by the American Nurses Credentialing Center’s Commission on Accreditation.

In collaboration with the 21st Annual Children’s Neuroscience Symposium

Participate in music research at Harvard University!

• We study physiological responses to music in children and adults with various genetic conditions • Participants listen to songs & poems while wearing an ankle bracelet to measure heart rate & skin conductance • As a thank-you, we provide participants with cool toys and parents with $45 in gift cards!

• We are conveniently located on Harvard’s main campus and provide free parking for the duration of the study and a $5 travel reimbursement

To find out more, send us an email at musicstudy+as@g.harvard.edu or call us at (617) 495-3503!

Dear parent, We are contacting you because we do research you might find interesting. We’re studying how people with imprinting disorders respond to and participate in musical activities, and how parents interact musically with their children. The full study description is below. Please read it carefully before making a decision about your child’s participation.

If you and your child would like to participate, please email us at musicstudy+as@g.harvard.edu or call us at (617) 495-3503. We can answer any of your questions about the study and help find a convenient time for you to visit the lab.

In this research, we are interested in how people with Angelman syndrome engage with and respond to music. We are writing to ask you to consider giving permission for your child to participate in this study, and whether you would like to participate as well.

During the study, we will assess your child’s music perception abilities and physiological responses to music listening. Over the span of about an hour we will play a variety of recorded music examples for your child. While the music is being played, we will measure your child’s physiological responses using an ankle bracelet. This information will be collected over one video-recorded session (if your child prefers, we can split the session over two or more visits, to ensure his/her comfort during testing).

Before we start testing, you and your child will be given free time to explore and become comfortable in the space. You will stay in the room with your child at all times, and are welcome to bring in any toys or games that your child enjoys.

As part of this research, we are also interested in your experiences as a parent. You will be asked to complete a brief survey (about 20 minutes), in which you’ll think back to when your child was an infant, and respond to personal questions about your parenting behaviors and your child’s responses to them, and also describe any history of participation in the arts with your child. Your responses will be kept confidential and will be used only for this research and for the purposes of institutional oversight of research activities. We will also ask about your child’s diagnosis, genetic testing, basic biometric information (e.g. height, weight, BMI), relevant psychological history and medication usage. If you don’t know the answers to those questions, you may contact your child’s doctor to help answer them, or you may leave them blank.

It is your choice whether or not you and your child participate in this research. If you choose participation, you may change your mind and leave the study at any time. Declining or stopping your or your child’s participation will involve no penalties or loss of benefits to which you or your child are otherwise entitled.

We hope that participating in this research will be an enjoyable experience for you and your child!

As a thank-you for your participation, we’ll provide you with a toy for your child and $45 in gift cards. We also provide free parking for the duration of the study, along with $5 in travel

compensation to cover your expenses to get to the lab. There are no known risks to participating in this study.

We take data security very seriously. We will video record all testing sessions, and these video files will be stored in our research facility. Your and your child’s survey responses will also be stored in this way, and will also be password-protected. No one other than the researchers (listed below), our staff, and University officials responsible for research oversight will be able to access the videos and survey responses. At the end of the study, all videos and other data that contains your or your child’s name will be permanently destroyed.

If you have questions about this research, please don’t hesitate to contact the researchers for this study, Samuel Mehr and Jennifer Kotler (sam@wjh.harvard.edu, (617) 495-3503, William James Hall 1118, 33 Kirkland St., Cambridge, MA 02138; jkotler@fas.harvard.edu, (617) 495-3503, MCZ 401-B, 26 Oxford St, Cambridge MA 02138). You may also contact the faculty member supervising this work, Max Krasnow (Department of Psychology, Harvard University; krasnow@fas.harvard.edu, (617) 495-3503, 980 William James Hall, 33 Kirkland St., Cambridge MA 02138).

This research has been reviewed by the Committee on the Use of Human Subjects in Research at Harvard University. They can be reached at 617-496-2847, 1414 Massachusetts Avenue, Second Floor, Cambridge, MA 02138, or cuhs@fas.harvard.edu for any of the following reasons: • If your questions, concerns, or complaints are not being answered by the research team • If you cannot reach the research team • If you want to talk to someone besides the research team • If you have questions about your or your child’s rights as a research participant.

Thank you for your consideration! We look forward to hearing from you.

Best, Jennifer Kotler & Samuel Mehr Harvard University

Coconut Milk Yogurt

Ingredients • 1-2 •1 • 1 1/2 Tbsp

cans of unsweetened coconut milk capsule of dairy-free probiotic (30-50 billion IU) or yogurt starter kit tapioca starch/flour (optional, used as thickener)

Instructions 1. Refrigerate canned coconut milk overnight to allow the milk to thicken and the cream rise to the top of the can. Do not shake can before or after refrigerating.

2. Spoon out the coconut cream from the top of the can into a glass mason jar.

Discard the clear liquid.

3. Add the probiotics from capsule or yogurt starter kit and whisk together.

4. Place the jar in the oven. Leave the oven powered off. Allow the coconut milk to incubate the yogurt cultures for 18-24 hours. *If you like at tangy or tart flavor, then incubate longer.

5. Place yogurt in fridge for about 4-5 hours and enjoy!

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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

#LifeWithAnAngel

video https://youtu.be/Cod1nUEA-M4

Kids are going back to school.

Sadly, some school lunches that have been approved to be served to our kids are not up to par. Don’t settle. Talk to the school about healthier “real food” options or send your child to school with food that is approved by you.

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#LifeWithAnAngel

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

http://bit.ly/ 1Tnky0nxxxxxxxxxxxx Check out the latest line of adaptive clothing to hit the Runway!

Shop online: usa.tommy.com

http:// bit.ly/ ANGELMAN TODAY | 29

CONTRIBUTORS

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

/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

/AngelmanToday

/AngelmanToday

KayserBetten Secure Sleep Systems www.KayserBettenUS.com SoSecure www.SOSecureproducts.com

Angelman Today

STAY CONNECTED ANGELMAN TODAY | 30

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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