Angelman Today January - February 2015

INCLUDING RESOURCES ● RESEARCH ● INSPIRATION

Angelman

Today

d i g i ta l ma g a z i ne

Winner of the 2015 Cover Contest

Tommy B.

Celebrate Abilities learned in 2014

Angels in Action video

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January - February

EDITOR’S LETTER

Welcome to 2015! A new year and new beginnings. I am an optimist and I believe in infinite possibilities. Every day is a fresh start to get one step closer to your goals, but entering into the new year is the time to create new goals and determine the plan of action.

This time of year is so special because I use it to plan personal goals and family goals.

I sat down with my oldest son and helped him set his goals for the year. I also write down the goals I have for Nathan. I include any products or therapy services I want him to start and skills I would like to practice with him. This could also be a time to consider if the current plan of therapies is as effective as you would like and consider how your Angel is responding to the therapies. A break from therapy can also be included in your plan. I recently had Nathan take a break from therapy for a period of time and I think it has been great for him and our family.

Whatever your goals are for the new year, I wish you all the very best in health and happiness as we continue to work hard on improving the lives of our loved ones.

Warm Wishes, Lizzie Sordia Editor - in - Chief Lizzie Sordia Editor - in - Chief

“Only you can make it great.”

EMAIL: LIZZIE@ANGELMANTODAY.COM FOLLOW: TWITTER.COM/LIZSORDIA FOLLOW: TWITTER.COM/ANGELMANTODAY

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November / December 2014

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5

Sibling Love and Support

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What’s inside New Year Goals ……………………………4

2015 Facebook Photo Contest Winner……………………….…….5 Angelman House Quebec, Canada…………………………...6

Cover: Winner of the 2015 Cover Contest – Tommy Benedit Photo provided by: Kelly Benedit

Sibling Love and Support……..................8 International Angelman Day 2/15……….13 Must See YouTube video’s………………14 The Great Bike Giveaway………………..15 Angelman Research Dr. Art Beaudet……………………………18 Family Day at the Zoo……..……………..21 The History of Angelman Syndrome (Spanish)…………………………….........24 Stay Connected…………………………...25 History of AS……………………….….…..26 Parent Recommended Books..………….27

Angelman and Associated Foundations The Charlie Foundation……..……..5 Société du Syndrome d'Angelman……………..6 Friendship Circle…………….…….15 The Angelman Syndrome Foundation…………………….…...16

Angelman Syndrome Belgium ……………………..…..…20

Tips for Setting Goals Set individual goals and family goals for the new year Ask yourself: What do you want to do to fulfill yourself ?

What do you want to learn or achieve?

Where do you want to go?

How can I take better care of myself?

Family goals can be created by asking some of these questions: What would we like to do?

How can we spend more quality time together?

Do we want to take a vacation this year?

Where would we like to go?

What would we like to do more of? Or Less of?

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Love Lots January / February 2015

Congratulations Tommy!

A Big Thank you to everyone who entered the Facebook Photo Contest.

Everyone did an amazing job raising awareness on social media. We had so much fun and received over 10,000 cumulative votes!

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January / February 2015

Angelman House

By Charles de Broin Société du syndrome d'Angelman The idea of offering a respite home for Angelman children was first conceived by Paolo Di Vito, Sophie Dubé and a handful of parents and friends who were willing to dedicate time and energy to the cause. The idea was to offer a safe and welcome home away from home to children with Angelman Syndrome.

The Foundation du Syndrome d'Angelman ( angelman.ca ) obtained its letters patent in May of 2005 creating a non profit corporation for people touched by Angelman Syndrome, to promote research on the syndrome, to offer a stimulating environment for individuals afflicted with the syndrome and provide support to those nearest to them. The goal of the organization was to gather funds to purchase a property to form a treatment center for Angelman children and adults and bring a much needed support to their families. Under our charter the Foundation is allowed to receive donations, organize fundraising events and ultimately create community awareness for individuals with Angelman Syndrome.

With the help of the Montreal community, many fundraising events were hosted and in 2010 the property was purchased. The property was formerly the head office of a swimming pool sales and warehouse with a solid commercial building of over 13,000 square feet.

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Refurbishing of the building to our needs required additional funds and part of the building was rented as a daycare facility.

Retrofits to the building included the construction of indoor and outdoor swimming pools, activity rooms, a cafeteria, a cinema room, a gym, respite rooms, a sensory room, offices and washroom facilities. Final finishing work remains to be completed and adapted equipment for the specialty rooms still need funding.

The Foundation established a partnership with WIAIH ( http://wiaih.qc.ca ) a recognized local non profit community family support organization that will be operating the center. Operations started last fall. The center is already used to provide a day program for adults with special needs, an after school program for high school special needs young adults within a safe and structured environment. The respite portion will also be managed by the community organization and we hope to have it running in the very near future.

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The project is no longer a dream but a reality and thanks to community involvement is evolving into a center where special needs children and adults can thrive in a safe, bright and happy place.

The project has evolved from the video presentation (https://www.youtube.com/watch?v=9hvKQfiOh4 ) but the concept is the same.

January / February 2015

Sibling Love and Support Being the sibling of someone with special needs is not easy. There are many challenges that most people will never experience or even understand.

Siblings will see and feel the struggles of their parents; go along on doctor visits that interfere with their play time, overhear and even understand medical conversations that would baffle the average adult; and witness all of the extra love, care and time parents need to give to the brother or sister with special needs. Yet, this often prepares the young person to handle life and others in the most compassionate and caring manner, creating the most amazing individuals.

For that we want to recognize these sibling WWW.ANGELMANTODAY.COM

relationships and display the most affectionate photos of siblings demonstrating all of the love and support they give.

Jace with big brother Gage and baby sister Wynn

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Sibling Love and Support

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January / February 2015

Jonathan with his sister Stephanie, dancing at her wedding.

Haley age 10 and Hannah age 8. Hannah looks up to Haley in every way. She learns from her and try's to mimic everything she does. They are both so special in the bond they share!

Tommy with his sister Katelyn working on a backyard project this summer. Tommy loves to be with his 2 older sisters helping out and going places too. Both Katelyn & Lauren love having Tommy involved around the house and take him all over with them. It is so wonderful to see our girls care for their brother so very much and involve him in their lives daily!!!

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January / February 2015

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January / February 2015

A day when all organizations and families gather together and raise awareness about Angelman Syndrome.

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January / February 2015

“ My name is Lucy Holyoake, I'm from

Created by Lucy, sister to Alice Alice has Angelman Syndrome

Wellington in New Zealand. I'm a film student at University and I have a 17 year old sister with Angelman Syndrome. I would just like to share my short documentary film I made about my sister, Alice Holyoake. I would love for families with Angelmans kids to be able to see it, as I think they would be very interested.”

Celebrating the Abilities of our Angels

Skills Learned in 2014 (click on link to view) Subscribe to our YouTube channel for more upcoming video’s.

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January / February 2015

Wi na na d a p t i v eb i k ef o r y o u r c h i l dwi t hs p e c i a l n e e d s !

Gr e a t B i k e Gi v e a wa y . c o m

r e g i s t e r a t

Together, we are stronger ASF-Funded Research Paves the Way Toward a Brighter Future Research is making real progress toward real treatments for individuals with AS Several important ASF-funded research developments have been published recently, illustrating the real progress being made toward treatments for individuals with Angelman syndrome. To date, the Angelman Syndrome Foundation has invested more than $8 million, which continues to grow, in AS research with the ultimate goal of finding a cure for AS.

Dr. Art Beaudet of Baylor College of Medicine discovers possible therapeutic Pre-clinical trials in AS mice have proven that the paternal copy of Ube3a can be activated and that AS symptoms can be recovered, though more testing will be conducted to determine exactly how the cognitive deficits associated with AS are recovered. The ASF funded this research in its 2011 and 2013 research grant cycles. The research was published in Nature on December 1, 2014, and you can read more about this research in this issue of Angelman Today! Check out the Table of Contents for the full article.

Dr. Angela Mabb of UNC-Chapel Hill uncovers more about Ube3a A paper published on November 17, 2014 in the Proceedings of the National Academy of Sciences by Dr. Ben Philpot, Dr. Mark Zylka and Dr. Angela Mabb at the University of North Carolina at Chapel Hill uncovered additional findings about Ube3a. The article illustrated that when in vitro neurons were treated with Topotecan, the

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goal of unsilencing the paternal copy of Ube3a was accomplished. However, during treatment, the neurons experienced a complete shutdown of activity—Ube3a was activated, but the specific cells that were treated stopped communicating with each other. However, normal neuronal activity was quickly restored once Topotecan was removed. This result is exciting because it suggests that most treatment side effects are likely to be fully reversible. Click here to read more about this research.

International Angelman Day is coming up!

The ASF will be celebrating International Angelman Day on February 15 by embracing the future of research, rallying the AS community—and the entire community at large—to donate specifically in support of AS research that is making true progress. Not only will these efforts raise much needed dollars to continue funding promising studies, leading toward potential clinical trials and ultimately therapeutic treatments, but it will also increase awareness of AS among the general population, in hopes of generating EVEN MORE support. Stay tuned for additional details of how YOU can join the movement!

Int’l (630) 978-4245

info@angelman.org

Speaker and Session Updates for 2015 Biennial Conference, Hope Inspired The Angelman Syndrome Foundation 2015 Biennial Conference, Hope Inspired, is coming up on July 15-18 in Chicago. The Conference is a networking and learning event that families do not want to miss, including newly diagnosed or families of older individuals with AS—the learning and sharing with other families never stops!

Check out a few of the latest updates to the Conference’s 40+ seminars and learning sessions: Wednesday, July 15 • Hands-on financial planning workshop hosted by Mary Anne Ehlert Thursday, July 16 • Dr. Stephen Calculator keynote address • Parent-to-parent networking sessions • “Just for…” sessions for Moms, Dads, Siblings, and Grandparents/Relatives Friday, July 17 • Dr. Ron Thibert keynote address • Sessions about Government Benefits and Guardianship hosted by expert Dr. Eric Wright, ASF Family Resource Team member • Adult-only mixer

Saturday, July 18 • Sessions about IEPs for all students with AS, from early childhood through transition, hosted by Dr. Eric Wright and Michelle Harvey, both ASF Family Resource Team members There is MUCH MORE TO COME, so stay tuned for more updates!

Save the Date: 2015 ASF National Walk!

The 2015 Angelman Syndrome Foundation National Walk will take place Saturday, May 16 at locations across the entire country, so mark your calendar! Join the 10,000+ families, friends and individuals with AS as they march to raise funds for a cure.

Baylor College of Medicine Research Discovers Potential Therapeutic for Angelman Syndrome ASF-funded research, published in Nature, proves paternal Ube3a can be activated and AS symptoms can be recovered

Dr. Art Beaudet Promising Angelman syndrome research continues to move closer toward potential clinical trials, as announced in December in a paper in Nature by Dr. Art Beaudet and his research team at Baylor College of Medicine (BCM).

More research will be conducted but pre-clinical trials in AS mice have proven that the paternal copy of Ube3a can be activated and that AS symptoms can be recovered, though more testing is needed to determine exactly how the cognitive deficits associated with AS are recovered.

The Angelman Syndrome Foundation funded this research in its 2011 and 2013 research grant cycles, as part of its $8 million and growing investment in AS research with the ultimate goal of finding a cure for AS. The BCM Intellectual and Developmental Disability Research Core grant and the National Institutes of Health were also major funders of this research.

mother is expressed or “active.” In AS, the maternal copy is missing (deleted) or altered in some way to render it inactive. In 2008, Goal #1 of the ASF Research Roadmap was to aggressively explore activation of the silenced or “inactive” paternal copy of the AS gene (UBE3A) as a potential treatment for AS. The studies described in this article for Nature are the culmination of those efforts.

Awakening the gene Recent studies by Dr. Ben Philpot and colleagues at the University of North Carolina-Chapel Hill demonstrated that Topotecan, a natural product derivative with various uses, unsilences the paternal copy of the AS gene in a non-specific manner. In this new article for Nature by Dr. Beaudet, Dr. Meng and their colleagues, it is demonstrated that a small DNA analog, known as an antisense oligonucleotide or ASO, can interact with the paternal copy of the AS gene and unsilence it in a highly specific manner.

Dan Harvey, ASF Scientific Advisory Committee Chair, has provided the following summary about the research.

Initial studies done with isolated neurons demonstrated that treatment with an ASO causes a long-lasting unsilencing of the paternal copy of the Ube3a gene.

Background Neurotypical individuals have two versions of the AS gene (UBE3A), one from their mother (the maternal copy) and one from their father (the paternal copy) but only the one from the

Treatment and recovery Subsequent studies were done with AS mice. The ASO was directly injected into the brain of an AS mouse via a technique known as ICV (intracerebroventricular) injection. The ASO was

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January / February 2015

well tolerated and partially unsilenced the paternal copy of the Ube3a gene. Additionally, it was highly specific for the AS gene, with no impact on other genes. Its activity was long lasting with unsilencing still observed sixteen weeks after treatment. When injected directly into a specific region of the brain known as the hippocampus, the part of the brain that manages cognition and learning, complete unsilencing of the paternal Ube3a was observed in the vicinity of the injection site.

Four weeks after treatment, AS mice treated with an ASO were subjected to behavioral testing and several of the behaviors typically observed in AS mice were reversed. In particular, memory impairment observed with AS mice was reversed after treatment. More extensive reversal of AS characteristics may require treatment at a younger age, a longer recovery time after treatment to allow greater rewiring of neural circuits, or a higher dosage of ASO.

Conclusion and next steps In conclusion, the paper states: “Well tolerated delivery, broad tissue distribution, and long duration of action sets a framework for ASOs as a viable therapeutic strategy for diseases of the CNS (central nervous system), and builds enthusiasm toward further optimization and development of an ASO treatment for AS.” The next step is to conduct more testing to determine exactly how the cognitive deficits associated with AS are recovered.

Access the complete article The full Nature paper can be accessed by clicking here. For questions about this research, please contact the ASF at http://www.angelman.org/about/contact/.

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A Family’s Perspective Provided by Debra F. Sukin, mother of Jacob Sukin, who is 13 years old Jacob is deletion positive for Angelman syndrome and was first diagnosed at Texas Children’s Hospital with genetic testing in Dr. Beaudet’s lab back in 2001. Jacob’s diagnosis was devastating to our family as we learned about Angelman syndrome’s physical and mental challenges and limitations.

While seeking the best care and treatment for Jacob to maximize his potential each year, our family set out to learn what research was available, educate others on the need for research for this rare genetic syndrome, and raise funds for research.

We are thrilled with the recent research findings by Dr. Beaudet and the genetics lab at BCM at the Jan and Dan Duncan Texas Children’s NRI that was published in Nature magazine. The ability to promote the silent paternal gene in the AS mouse model and witness normalization of behavioral and learning characteristics as well as elimination of seizures and ataxia provides hope.

Jacob has a long life expectancy. Any therapeutic intervention that will improve his ability to live in this world or create a cure is exactly why we believe in research.

We are so grateful to the Angelman Syndrome Foundation who funded this research along with Baylor and TCH.

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A N G E L M A N S Y N D RO M E B E LG I U M Parents Organisation History Angelman Syndrome Belgium is an association which was founded in 2011 by some parents who have a child with the Angelman Syndrome.

Aims Our main goal is to reach the Belgium families that have a child with the Angelman Syndrome so we can share practical information, support each other and share as well up to date scientific information.

Activities Yearly, we organize a couple of events, during which we aim to provide a nice relaxing day for the families. Also brothers, sisters and grandparents of the Angelman child are very welcome to join on these days. Our organization tries as well to raise awareness of the angelman syndrome to physicians and caregivers. Also scientific research is supported by our association.

FOLLOW US ON https://twitter.com/angelmanSB https://www.facebook.com/#!/Angelmansyndroom www.angelmansyndroom.be Post@angelmansyndroom.be

Family Day at the Zoo in Antwerp

By Inge, (Mum to Merle)

We were hesitating to go or not to go to the Zoo, an activity organized in September this past year by the Angelman Syndrome of Belgium. From Poperinge, our hometown, it is a travel of about 2h 40 min by train which is quite a long time for Merle, our Angelman child. She can be quite unpredictable.

Anyway, we decided to go for the adventure. â˜ş

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Finally, we arrived somewhat later than the other families. In the morning we explored the park and during our walk through the park we met several other families with an Angelman child. Some children we recognized from Facebook; with other families it was a first contact.

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For us, quite a special kind of day. We still have no confirmation that Merle has the "Angelman syndrome”. So for us it is mainly an observation and …sorry for the word ... comparison, and search for recognition.

In the afternoon, we were offered a lunch in the restaurant of the park. The soup, sandwiches and drinks were very tasteful.

The lunch time was an interesting moment to observe and to get to know other families.

In the afternoon, the day took a special turn: we were expected at “Lints”, a bakery pastry shop in the heart of Antwerp, which closed its doors to receive us. Together with their son who has as well the Angelman syndrome, we were invited to have delicious cakes and coffee.

Thank you to the organizers of this family day, we've all enjoyed it and were truly glad we took the effort to go!

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CONTRIBUTORS

Thank you!

A big thanks to all of the contributors that help bring you Angelman Today!

Dr. Art Beaudet

Additional Contributors: -All of the Angel parents that submitted photos -Charles de Broin -Debra F. Sukin -Inge -Lucy Holyoake

All of the Angelman and Associated Foundations across the globe

Angelman Today is a lifestyle guide to achieving better health for individuals with Angelman Syndrome and their families. It is written with your needs in mind but is not a substitute for consulting with your physician or other health care providers. The publisher and authors are not responsible for any adverse effects or consequences resulting from the use of the suggestions, products or procedures that appear on this website or online magazine. All matters regarding your health should be supervised by a licensed health care physician. Copyright 2014 Angelman Today, LLC. All rights reserved worldwide.

La Historia del Síndrome de Angelman El Dr. Harry Angelman fue un médico Inglés quien identificó lo que hoy en día se llama Síndrome de Angelman.

Nació en Birkenhead, Inglaterra. Le fascinaba el idioma y la cultura de Italia.

El fue el primero quien observó trés niños no relacionados quienes demostraban síntomas similares – atrasos severos intelectuales, un modo de andar que era espasmódico y rígido, ausencia del hablar, convulsiones, y una disposición contento.

Luego, duranted unas vacaciones en Italia, descubrió una pintura llamada “Un Niño con una Marioneta,” creado por el artista del Renascimiento Giovanni Francesco Caroto, en el museo Castelvecchio en Verona. La pintura le hizo pensar en los niños que eran sus pacientes, y le condujo a publicar un artículo profesional en el año 1965 que describía lo que el llamaba “Niños Marionetas.” En aquel momento la importancia de su artículo no fue reconocido como algo importante.

Dr. Harry Angelman 1915 – 1996

No pasó nada mas hasta Charles A. Williams y Jaime L. Frias del departamento de Pedíatra, Divisíon de Genética, de la Universidad de Florida Colegio de Medicina de Gainesville, Florida, sometieron un artículo a la Revista Americana de Genética Médica explicando estudios de séis pacientes, comparando sus datos con los de informes previos – incluyendo atrasos intelectuales severos, el andar como un “marioneta,” anormalidades cranio-faciales, y espisodios frecuentes de risas. De repente, se notó que eso era mucho más común de lo que anteriormente se creía. Ellos propusieron ponerle el nombre de Síndrome de Angelman, en honor del Dr. Harry Angelman.

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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.

He first observed three children who were not related but showed similar symptoms of severe intellectual delay; stiff, jerky gait; lack of speech; seizures; motor disorders; and happy demeanors.

Although Dr. Angelman was born in Birkenhead, England, he was an enthusiast for the language and country of Italy. And it was 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. Reminded of the children he’d observed, 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.

Dr. Harry Angelman 1915 – 1996

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, “puppetlike” 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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January / February 2015

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