angelman today may - june edition 2015

Angelman Today

INCLUDING RESOURCES RESEARCH INSPIRATION

digital magazine

www.angelmantoday.com

Winners of the Great Bike Giveaway

Angelman Syndrome

Foundation Walk

2015

Upcoming ASF & CASS Conferences

Angels in

Action

May is here and many of us in the US are getting ready for the annual walk for the

Angelman Syndrome Foundation. This will be my 5th year hosting the walk in Florida.

Our family looks forward to it all year.

When my son Nathan was diagnosed at 2 and a half years old, we left the Geneticists

office pondering on what she had just told us. She said Angelman Syndrome was rare

but I did not truly understand what that meant to the general population of people.

Was he the only one in Florida? I remember feeling so isolated.

Fast forward just a few quick years and our Florida walk has grown close to 300

people, my Angelman family.

I was so honored when our walk was featured on the cover of Celebration Life

Magazine last year. We have come so far in a very short amount of time. All because

of the amazingly hardworking people in this community. Cheers to all of the parents

that continue to volunteer their time and efforts raising awareness so newly diagnosed

families never feel so isolated, but supported.

Warm Wishes,

Lizzie Sordia

Editor - in - Chief

Lizzie Sordia

Editor - in - Chief

WWW.ANGELMANTODAY.COM MAY / JUNE 2015

EDITORS LETTER

May - June

EMAIL: [email protected]

FOLLOW: TWITTER.COM/LIZSORDIA

FOLLOW: TWITTER.COM/ANGELMANTODAY

5

5

Teeth Tips...5 E-Z-ON Vests.6 Great Bike Giveaway Winners.................7 Angels in Action.........10 The Benefits of Water By Darren Humphries.....11 Antipasto Spring Salad..18 Photos from the 2014 Angelman Syndrome Foundation Walk......19 Watermelon Fun Bites20 The History of Angelman Syndrome (Spanish)..........23 Stay Connected...24 History of AS....25 Parent Recommended Books...26

Whats inside

Angelman and Associated

Foundations Canadian Angelman Syndrome Society4 The Angelman Network, New Zealand....8 The Angelman Syndrome Foundation..12

25

On the cover: Gavin Staab is 4 years old.

From Bettendorf, Iowa

Photo provided by: The Angelman

Syndrome Foundation

10 7

Winner of the

Great Bike Giveaway

16 21 11


Save the Date -- CASS Conference in 2016!

VENUE FOR EDMONTON 2016 CONFERENCE SELECTED

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.

Watch the CASS Newsletter and Website www.angelmancanada.org for

continuing updates as planning proceeds. Thank you, everyone, for

helping to get the word out about your Edmonton 2016 Conference!

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


Teeth

Tips

Flouride is newly classified as a developmental neurotoxin by medical authorities in the March 2014 Journal Lancet Neurology.

Developmental neurotoxins are capable of

causing widespread brain disorders such as

Autism, Attention deficit hyperactivity

disorder, learning disabilities, and other

cognitive impairments. The harm is often

untreatable and permanent.

The CDCs own evidence reveals

Americans already show signs of flouride-

overexposure and reports that 41% of

American teenagers have dental fluorosis.

Individuals with Angelman Syndrome may

have a difficult time not swallowing the

toothpaste when brushing. Avoiding

exposure is best.

Notice the warnings on the back of most tubes

of toothpaste containing flouride.

Here are some options that may help

Purchase Flouride Free Tooth paste. We listed

a few brands: Toms of Maine, NOW Foods,

Natures Plus

Another simple solution that you can make at

home is:

-Coconut oil

-Baking Soda (works great for gently

removing tartar and discoloration).

Click links to purchase from amazon.com


Will (iam) was diagnosed with UPD

Angelman Syndrome in October 2011

and epilepsy in June 2014 and the road

ever since has been anything but easy.

Between breakthrough convulsive

seizures, adverse reaction to two

medications (Keppra and Trileptal),

hospital stays, high valium levels, we

finally found seizure control in Depakote

in February 2015. Now we struggle with

aggression and are trying to work through

that.

On a whim, I decided to enter the Great

Bike Giveaway as Will always wants to

ride bikes with his friends.

We received the required number of

votes via amazing friends and family

that made him eligible for the raffle

and stopped promoting it there. I had

basically forgotten about the contest

until a friend posted on my wall that

Will had won the raffle!

He is still learning to pedal and control

the bike, but I'm so excited he has the

ability to keep up with his friends this

summer when they ride their bikes!

144 Bikes were given away for this

years Great Bike Giveaway.

https://www.friendshipcircle.org/bikes/


Angels in Action Will is a Winner!!

News from New Zealand

Hi to all, from down-under! Our

families in Auckland enjoyed a

glorious summer day in February

to celebrate International Angelman Day.

To raise awareness for Angelman

syndrome, we booked a stall at an all-day music

event a Forest Festival. This provided the

perfect location for families to relax,

reconnect and be visible in the community.

Dressed accordingly, we brought along our

picnic blankets, baskets, sunhats and

sunglasses. Enthusiastic families, friends,

artists and carers joined us in support, and

helped make the day a great success.

Children paid a gold coin donation to create

their own awareness eyes. They decorated

colourful masks with glitter, stickers and

feathers. The Angelman Network posters

were on prominent display and brochures

were distributed throughout the day. Our donation buckets filled up as raffle tickets

were circulated and sold. It was a productive, social and magical day, with music, food,

sunshine, fun and creativity. We are already looking forward to next years event.

The Angelman Network is a

charitable trust based in New

Zealand that aspires to

connect and support those

affected by Angelman

syndrome.

We have a global network

that connects families,

organisations and specialists.

Funds we raise go towards

family grants, resources and

small research grants.

.

WHAT WE DO

AWARENESS EYES

The Angelman Network is seeking to fund research that will assist

providers and policy-makers in the

disability sector on how best to support

families and individuals affected by rare

disorders, such as Angelman syndrome.

It is our hope that well researched

material with relevant data will help them

make better, more informed decisions

when designing service models.

1. Research on When I am no longer alive https://unidirectory.auckland.ac.nz/profile/h-thakkar. The Angelman

Network has awarded Hemant Thakkar a small grant to support his Doctoral

Research at the University of Auckland. Hemant has over 20 years of

experience in the disability sector and has worked in the areas of special

education, support service provision, disability responsiveness training, work

place assessment, social policy, and promotion and protection of consumer

rights. (More on his paper in the column on the right)

2. Research on the supportive care needs of parents Lemuel Pelentsov (BHSc(Hons), GDip(Emerg), BN ) is a lecturer based in

Adelaide, Australia. He is undertaking a PhD that investigates the supportive

care needs of parents who care for a child with a rare disease. He is also a

father of a child diagnosed with a rare disease. A major part of this research is

to undertake an international online survey of affected parents. The survey is currently available internationally until June. If your child with AS is

aged 18 years or younger and living at home, PLEASE PARTICIPATE!

Click here to take the survey: https://www.surveymonkey.com/s/3NYKPH6

The information obtained from this study should eventually lead to more

appropriate individualised supportive care for parents.

Through this research, Lemuel is aiming to:

Give parents of children with rare diseases an opportunity to have

their voices heard and their needs recognized

Develop a tool for use by health professionals to assist them in

identifying parental support needs.

To improve the way health providers identify needs, tailor support

and plan and implement services within the rare disease community.

This study has been approved by the University of South Australia Human Research

Ethics Committee (Protocol: 0000031772) and is being supported by Rare Voices

Australia (RVA), EURORDIS, Association of Genetic Support of Australasia (AGSA),

Genetic and Rare Disease Network (GaRD), and Genetic Support Network of Victoria

(GSNV)

When I am no longer alive:

Understanding the wishes, the

worries and the support needs of

the parents of severely disabled

adults.

The Angelman Network has awarded

a small grant to help fund this

Doctoral paper.

Sooner or later, a question that starts

concerning most parents of severely

disabled children is what will happen

to my child when I am no longer alive?

For most parents, their support

network would comprise of formal

(publicly funded) supports and

informal supports (provided

voluntarily by their extended family

members and friends This qualitative

study seeks to gain insight into the

aspirations and apprehensions of the

parents of severely disabled adults

living in India and New Zealand

concerning long-term care and

wellbeing of their children including

the support mechanisms that they

consider and value as being useful for

their childrens future.

The findings of this study will assist in

making useful recommendations to

policy makers on designing service

models that are both efficient (in

terms of cost) and effective, in terms

of their usefulness to meet the needs

of severely disabled adults and their

families.

If you are interested in this field of

research or have any questions on these

studies, contact The Angelman Network.

www.angelmannetwork.com

HEMANT THAKKARS DOCTORAL RESEARCH PAPER

Hermant Thakkar with Ursula

Cranmer, Chairperson of

The Angelman Network

with.


Angels in Action

P.J. Snyder crossing the finish line last August at the Boulder

Ironman. His partner Dennis, with Athletes in Tandem, finished

the 140 mile event in 15.5 hours. What an awesome experience!

Click to see video

Of all the place in the world that Elijah was the

most comfortable - it was in water that he

thrived. The only time we ever lost Elijah inside

the house was water related. He managed to get

into the bathroom, close the door behind

himself, get into the shower and close the door

behind himself and sit splashing in the remnants

of water. In the end it was his giggling as he

splashed that gave him away.

Even though fascination with water is one of

those characteristics of those whose lives are

impacted with Angelman Syndrome, water

satisfied Elijah in at least two ways.

Firstly, it satisfied a sensory need in him to

interact with water and was

always pleasurable for him. Water always

resulted in smiles and giggles - both very

appropriate to the interaction. Who doesn't

smile when interacting with water at pool,

beach or shower, bath etc. There is a basic

connection for human beings and water.

Secondly, water was liberating for Elijah, it was

in or on water that he was able to achieve many

things that were not possible for him outside of

water. It provided an environment of balance

for him. It was in water that he did not have the

challenge of carrying his own weight. Much to

the joy of his family it was in a pool with a

flotation ring around him he took his first

unaided steps. There are many who know the

utter and profound joy that arises in us when

this happens for the first time. Elijah would

walk many steps unaided in the pool before he

was even up to pulling himself up and furniture

surf outside of water. And Elijah knew he could

do it.

It was recommended that we take Elijah to

hydrotherapy and so we did every week while

his older sister Francesca went to piano lessons

with her mum, I took Elijah swimming. He was

always looking forward to and excited to go to

the pool. This was a private pool where the

staff worked with children and adults of

varying abilities. This went on for sometime,

and we would also go to the local pool where

he would be mobile. Not unlike his sister both

were born in water and so when it came to

getting out it was always a challenge and met

with signs of refusal and objection. These were

responded to by promises of returning again

soon which we did.


The Benefits of Water - Not Just Hydration

Darren Humphries New Zealand

Father to Elijah - Del + (2004 - 2007)

www.Angelman.org (800) 432-6435 Intl (630) 978-4245 [email protected]

Together, we are stronger

Congratulations to the Top 5 Fundraising Teams!As of April 1, these five teams raised the most in online credit card donations to support AS research and families! Congratulations and THANK YOU to each of these teams, and to every ASF National Walk participant for your dedication, hard work and unwavering support for our loved ones with AS.

Team MarliTeam Captain Drew Knoedler in memory of his sister, Marli KnoedlerWashington, DC

Aaravs AngelsTeam Captain Alpesh Ansodaria for AaravPhiladelphia, PA

Team OliverTeam Captains Chris and Christa Graham for OliverOntario, Canada

Maisys DaisiesTeam Captains Dan and Karen Wolff for MaisyWashington, DC

Team DylanTeam Captains Steve and Jamie for DylanSan Diego, CA

ASF National Walk

Its Not Too Late To Fundraise!Fundraising for the ASF National Walk continues until we reach our goal of $1.25 million for AS research and family support! THANK YOU for your generous support of our loved ones with AS.

Together, we are stronger

Your support granted $1 million to AS research ASF-funded research will conduct clinical and pre-clinical research aimed at finding therapeutics, establishing biomarkers for future clinical trials, and improving symptoms of AS. Following last years ASF National Walk, the ASF committed more than $1 million to advance AS research, and has granted those funds to the following projects. These studies are unique, innovative approaches to resolving AS symptoms and understanding the genetic complexities of AS. The AS research community continues to grow and move us in the direction of ultimately finding a cure for AS!

Testing human neurons with UBE3A-expressing drugStormy Chamberlain, Ph.D. University of Connecticut Health CenterTwo years $200,000

Better understanding learning and memory deficits in AS mice Hanoch Kaphzan, Ph.D. University of Haifa, Israel Two years $200,000

Examining proteins in brains of AS mice and their effects on AS symptomsBen Distel, Ph.D. Academic Medical Center, Amsterdam, NetherlandsTwo years $199,705

Validating biomarkers to measure clinical trial successBen Philpot, Ph.D. University of North Carolina-Chapel HillHeather Hazlett, Ph.D. Carolina Institute of Developmental Disabilities at University of North Carolina-Chapel HillRon Thibert, M.D. Massachusetts General HospitalTwo years $295,970Select participants will be needed for this study! Please click here for more information.

This years Wagstaff FellowFostering the next generation of AS researchers, the Joseph E. Wagstaff Fellowship is awarded annually to budding AS researchers to further advance the community in creating treatments and ultimately a cure. Congratulations to Shalaka Mulherkar, Ph.D., with Baylor College of Medicine!

Dr. Mulherkar has a strong publication record and is already considered to be a highly accomplished neurobiologist by her mentors. Dr. Mulherkar received both her Bachelors in 2002 and her Masters in 2004 from the University of Mumbai where she studied the molecular changes associated with learning and memory in the giant African snail Achatina fulica. She began studying AS during her graduate work at the National Brain Research Centre in Haryana, India from 2004 to 2010. Her doctoral thesis was titled Characterization of motor deficits in a mouse model of Angelman Syndrome: Role of Ube3a/E6-AP in dopaminergic neurons. Since 2011 she has been involved in postdoctoral studies at Baylor College of Medicine. The Baylor environment, where she has the opportunity to interact with other AS, is uniquely well suited to support her continued interest in AS research and scientific development.

Learn more about her ASF grant and work here.

Click here to register your family and individual with AS, or to update your information, in the ASFs Contact Registry to receive information about participating in future research studies and other AS-related information.

angelmansyndromefoundation

FUNDED RESEARCH

www.Angelman.org (800) 432-6435 Intl (630) 978-4245 [email protected]

July 15 18, 2015Schaumburg, Illinois

A Chicago suburb

Hope Inspired isnt just the theme of the 2015 ASF Biennial Conferenceits a way of life for all families touched by Angelman syndrome. Join us for Hope Inspired by research, knowledge, community, awareness and support.

View the Conference schedule! Click here to learn more about the speakers and their topics, and the variety of breakout sessions available for families to interact with experts and other families.

REGISTER TODAY! Registration to Hope Inspired is FREE, thanks to the generous support of ASF donors who offset the costs of hosting the Conference.

You will go home with new ideas, knowledge, enthusiasm, and friends to support you and your loved one with AS on your journey!

Click here to read about other families experiences at ASF Conferences! Its an experience you WILL NOT WANT TO MISS!

JOIN US FOR FOUR DAYS OF HOPE.

THERES NO PLACE LIKE CHICAGO IN THE SUMMER.

Brookfield Zoo

Great America

Woodfield Mall

Concerts at Midwest Amphitheater

Fashion Outlets of Chicago

Key Lime Cove indoor water park and family resort

Chicago Childrens Museum

Art Institute of Chicago

Explore and Much More childrens play space

Kid City childrens play space

Wrigley Field historic ballpark

Museum of Science and Industry

Michigan Avenue city thoroughfare with

Magnificent Mile

360 Chicago observation deck

Buckingham Fountain landmark fountain

Garfield Park Conservatory

Lincoln Park Zoo

Chicago is full of fun family attractions you can visit during your stay in Schaumburg, a close Chicago suburb. While attending Hope Inspired, find time for your family to enjoy all that this destination has to offer.

Register today and join hundreds of families sharing the same journey as you for the 2015 ASF Biennial Conference.

These statements have not been evaluated by the Food and Drug Administration. This product is not intended to diagnose, treat, cure or prevent any disease.

Pediatrician Formulated SPEECHNUTRIENTS SPEAK

SpeechNutrients speak is a proprietary, patent-pending formulation developed by a pediatrician for children with special nutritional requirements.speak contains a unique blend of 7 nutrients including EPA and DHA omega-3, d-alpha and gamma tocopherols (vitamin E), vitamins K1 and K2, and GLA.

Supports cognitive function Provides antioxidant support Ultra-purified and concentrated formulation

Learn more about the benefits of speak by visiting our website at www.SpeechNutrients.com

800-471-0358 [email protected]

SpeechNutrients

Try

Today!special pufa e and k

Antipasto Spring Salad


GF LGIT

Ingredients:

- Mozzarella Cheese

- Colby Jack Cheese

- Chopped Green Bell Peppers

-Pepperoni

-Salami

-Italian Salad Dressing

-Black Olives

Mix it all together and enjoy!

Gavin Staab and his family and friends will be participating in the Angelman Syndrome Foundation 2015 walk in Naperville, Illinois. This will be Gavin's second Walk. Gavin Staab was diagnosed with Angelman Syndrome on April 29, 2013 at two and a half years old. We are grateful for our family and friends that support Gavin either by generous donations, participate in the walk, or do both. The walk is a positive way to spread awareness of Angelman Syndrome to others. While at the walk it is a welcoming environment to interact with other families who are going through similar daily challenges. Everyone's story is different, but there is a great sense of understanding that only parents of a child with Angelman Syndrome can know. The support we feel is amazing. The look on Gavin's face when we tell him that all these people are there walking for him is priceless. Gavin experiences Angelman Syndrome every waking moment and so do we. Our family and friends do all they can for us as we are on this journey with Angelman Syndrome. Gavin is now four and a half years old and continues to make daily strides in all his skills. We are so proud of him and how hard we work to help him achieve success in his own way. Gavin lives in Bettendorf, Iowa with his dad, Jeff, mom, Julie, big brother, Connor, and little sister, Audrey. We are excited for May 16th and the Angelman Syndrome Foundation Walk.


Quinn Family D.C Walk Quinn Family D.C Walk Quinn Family D.C Walk

Fingold Family Sacramento Walk Cecere Family Boston Walk Dumas Family SLC Utah Walk


GF

Dairy

Free

Watermelon

Fun Bites

Mmm juicy

*Naturally

Nutritious Delicious Hydrating


Team Stevie, Chicago Walk Russell Family, Orlando Walk

Webb kids, WA

Mason, Phoenix Walk

Lexis Angels, Long Island, NY Cameron Family, Orlando Walk

Lexis Angels, NY

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

Angelman Today Supporters:

E-Z-On Products www.ezonpro.com

Speech Nutrients www.speechnutrients.com

All of the Angelman and

Associated

Foundations

across the globe

Additional Contributors:

Darren Humphries

Melissa Winger

Cindy Snyder

The Staab family

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.

CONTRIBUTORS

Marilyn Kennedy

Assistant Editor [email protected]

Sybille Kraft Bellamy

Parent Expert in Nutrition

And LGIT diet Facebook.com/AngelmanSyndromeDiet

Dr. Harry Angelman

1915 1996

El Dr. Harry Angelman fue un mdico Ingls quien

identific lo que hoy en da se llama Sndrome de

Angelman.

Naci en Birkenhead, Inglaterra. Le fascinaba el idioma

y la cultura de Italia.

El fue el primero quien observ trs nios no

relacionados quienes demostraban sntomas similares

atrasos severos intelectuales, un modo de andar que era

espasmdico y rgido, ausencia del hablar,

convulsiones, y una disposicin contento.

Luego, duranted unas vacaciones en Italia, descubri

una pintura llamada Un Nio 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 nios que eran

sus pacientes, y le condujo a publicar un artculo

profesional en el ao 1965 que describa lo que el

llamaba Nios Marionetas. En aquel momento la

importancia de su artculo no fue reconocido como algo

importante.

No pas nada mas hasta Charles A. Williams y Jaime L.

Frias del departamento de Pedatra, Divison de

Gentica, de la Universidad de Florida Colegio de

Medicina de Gainesville, Florida, sometieron un

artculo a la Revista Americana de Gentica Mdica

explicando estudios de sis 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 not que eso era mucho ms

comn de lo que anteriormente se crea. Ellos

propusieron ponerle el nombre de Sndrome de

Angelman, en honor del Dr. Harry Angelman.

La Historia del Sndrome de Angelman


STAY CONNECTED ON THE GO

DOWNLOAD THE NEW ISSUU APP TODAY ON GOOGLE PLAY

AND NOW IN THE APP STORE!

Dr. Harry Angelman

1915 1996

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 hed 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.

It wasnt 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.

The History of Angelman Syndrome


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angelman today may - june edition 2015

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