Angelman Today

INCLUDING RESOURCES ● RESEARCH ● INSPIRATION

digital magazine

Angel’s Week

Off winners

share their

vacation

with us

Upcoming walk for the

Angelman Syndrome Foundation

May 17th 2014

May is here and many of us in the US are gearing up for the annual walk for the

Angelman Syndrome Foundation. This will be my fourth year hosting the walk in

Orlando, Florida.

After my son Nathan was diagnosed, our geneticist handed us some information about

AS by the Angelman Syndrome Foundation. I quickly went to the website to learn as

much as I could. When I learned of the annual walk that I could host in my area, I had

to get involved. I wanted to meet other families and see other Angels. I did not know

how I was going to pull it off, but I was determined and when I get determined…

watch out!

I can hardly describe the feelings I felt when meeting so many families, hearing their

stories and seeing the abilities of the Angels. After my first walk I had this

overwhelming feeling of joy that helped heal a small part of me that was broken

hearted about the diagnosis. I was happy to raise funds for research that not only is

searching for a treatment but is discovering ways to help individuals with AS today,

like treating seizures with the Low Glycemic Index Diet.

It is a true blessing when we can take time out of our crazy schedules and get together

as a community and raise funds for any AS organization. I hope you all have a

wonderful time.

Warm Wishes,

Lizzie Sordia

Editor - in - Chief

WWW.ANGELMANTODAY.COM MAY / JUNE 2014

EDITOR’S LETTER

Angel Aitor……………..………..…………..4 Angels in Action - Ishaar, age 5…………5 Control Your Allergies By Shari Caspert………..………………….6 Our Family Sleep Tips By Shari Caspert……………………….....10 Family Experience with The Safety Sleeper…………………11 The History of Angelman Syndrome (Spanish)…………………………….........13 Angel’s Week Off Vacation Winners………….…………………..…14-15 Mompreneur Marketplace……………. ..17 Angelman Syndrome Foundation walk Pictures………………………….…..19 SOUL Electronics Promo ………………..21 Parent Recommended Books..………….23 What is Angelman Syndrome (Spanish) …………………..…….………..23 Bye Bye Winter By Sybille Kraft Bellamy…..….…….........24 Juicing……………………………………...25 Classifieds…………………………………27

What’s inside

Angelman and Associated

Foundations

Angelman Syndrome France….....7 AS Meeting – Paris 2014 Help Me Fly……………………..…18 (New Foundation) THERAsurf……………………...…26 The Angelman Syndrome Foundation…………………….…..29 Asociacion Sindrome de Angelman……………………….…32 FAST………………………….........34 The Angelman Network – New Zealand………………………….…36

21

13

28

Cover:

“Super Cooper”

Owensby,

6 years old, AS

From Illnois

5

The Benefits of Juicing

26

17

WWW.ANGELMANTODAY.COM MAY / JUNE 2014

Throughout the days (and nights), there is a lot of laughter. Ishaar does

all of the laughing, and I smile and tell him how silly he is. I enjoy listening

to his laughter as it means all is well in Ishaars world.

Ishaar loves to pull my hair and smell it (its his way of being affectionate).

He especially enjoys laughing as he is doing this. He is so strong that once

he has a good grip, there is no escaping his clutch. So I am stuck until he

decides 'ok I'm done'.

There have been times that I have been in a hurry

to go somewhere, or in a rush to get something

done, or am in middle of a family photo shoot, or

times when I am just not in the best of spirits. But

Ishaar doesn't base his desire to be affectionate

around my mood or my schedule. Nope, he

actually prefers to strike at the most inconvenient

and unfavourable times. As hard as I try to pry his

hands open so I can have my hair back (this

actually makes him laugh even harder)...I cannot

win. So what happens when I am stuck there in

my predicament...I burst out in laughter too.

During that time when we are laughing together,

all is well in Mommy and Ishaars world.

-The Shandhu Family from Vancouver, British

Columbia in Canada.

Angels in Action Celebrating the Abilities of our Angels

By Kiren Sandhu, Mom to Ishaar, age 5

Spring is here! Control your Allergies, Sleep and Stress “Naturally” with Aromatherapy by Shari Caspert

We all love springtime and look forward to the

great outdoors. We can all get outside and

explore, go bike riding, enjoy the playground,

exercise and get lots of great sensory input.

The days are longer, and brighter and we just

want to breathe in the fresh air, get rid of our

coats and enjoy. And soon, we will get to go

swimming, our favorite activity!

Our schedules have changed, the days are

longer, and we all just want to stay outdoors!

We have Spring Break instead of school,

many family Holidays and celebrations which

include extra stimulation, BBQ foods, cakes,

cookies and lots of hugs. With that comes

more exposure to sun, allergies, less sleep,

dehydration and a break in routine. Most of us

welcome the change, for our group it may

become difficult.

Allergy season is here too! Our kids really

don’t think about it too much, they will

continue to put things in their mouths, run

around the house with their pollen infused

shoes, clothing and rub their eyes.

All of the sudden, everyone’s sleep is

interrupted, the kids are cranky, broken out,

over heated and just uncomfortable. They are

stressed out and so are we, so we must take

action!

We start with our non toxic, natural first aid

kit and go for it (no side effects like

medication and they do not expire).

Any chemicals on your body, in your body or

environment enhance allergies. Try to rid

them as best as you can.

We use a lot of Young Living Essential Oils

and their products because we know that they

are safe, effective and pure. We diffuse a lot of

Lavender which is a natural antihistamine as it

helps with sleep, aides with sunburn, is

calming and has many uses. We also put it on

topically, use it in epsom salt baths and in

lotion. It is great for any age, you can rub it

right on the bottom of the feet for the younger

group as well

Purification is fantastic this time of year. It is a

blend that includes citronella, lemon and

lemongrass. It helps soothe bug bites, cuts and

scrapes, deters insects, purifies and freshens

your environment. Diffuse or make a spray

bottle for cleaning the air.. you can even take

an unbleached cotton ball or coffee filter , put a

few drops on it and place it in your car vent, a

great air freshener and gets rid of the toxins

and allergens in the air. (I do this with many

oils, it is much safer than any plug in freshener

that you may have in your car or home).

I put a few drops in the laundry to help get the

pollen off of our clothes. Keeping your home

clean so you are not tracking pollen throughout

your home will help you too. Be sure to use

only natural products such as vinegar, baking

soda, or Thieves cleaner. Remember, anything

that helps reduce inflammation in your body

will help you with your allergies and general

health.

If you would like additional tips or learn how

to create your “First aid Kit” please contact me

at: scaspert@gmail.com

www.YoungLiving4SpecialNeeds.com

The Angelman Syndrome Walk is Saturday, May 17th!

Get ready “Naturally”

Angelman Syndrome Walk tips:

(Great for any on the go activities)

Non - Toxic Thieves Hand Purifier

Deep Relief (Roll on Sore Muscles)

Breathe Again (Roll-on for allergies)

Drink plenty of water and we love Ningxia Red

packets, great antioxidant, energy drink for when

you are on the go.

Wear your t-shirt, spread awareness and have fun!

In 2012 the following four European

associations: Nina Foundation

(Netherlands), Orsa (Italy), AVO (Austria)

and AFSA (France) joined to organize an

international meeting bringing together

researchers involved into Angelman

syndrome (AS). The first meeting in 2012

in Rotterdam (Netherlands) was a huge

success. The 2013 edition took place in

Rome (Italy). Paris (France) will host this

year, organized by AFSA, on 17 October

2014. It will be followed by the French

association’s national conference.

The international meeting is open to

researchers and clinicians involved in

neuroscience, gene therapy,

neurodevelopmental disorders, particularly

in Angelman syndrome. It is also open to

officials of European and international

organizations created around Angelman

syndrome.

The aim of the international meeting is to

encourage researchers to share their

experience and knowledge about AS. For

this reason, speakers present their

scientific projects to one another.

As the Rotterdam and Rome conferences

have shown, direct exchanges definitely

increase scientific research on Angelman

Syndrome, which is supported only by

associations, foundations or fundraising.

Every two years, AFSA organizes its

traditional two-day national meeting. This

is a special opportunity for all French

families affected by Angelman syndrome

to meet and share their experiences and

improve their knowledge. Newly

diagnosed families, seeking answers and

comfort, are particularly welcome.

Medical and paramedical professionals

(physicians, geneticists, psychomotors,

physiotherapists, researchers, etc.) take

part in the national meeting and share

with parents all the progress and

improvements that they are aware of.

This year, AFSA is proud to combine

these two major events: the international

meeting will be followed by the French

national meeting (18 and 19 October

2014).

More information can be found on

www.angelman-afsa.org

AFSA’s fundraising page for the

international meeting :

http://www.alvarum.com/colloque-

angelman2014

3rd Angelman Syndrome International Meeting 17 October 2014 – Paris

WWW.ANGELMANTODAY.COM MAY / JUNE 2014

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Our Family Sleep Tips By Shari Caspert

We learned the best tip at our very 1st

Angelman Conference 15 years ago:

Change Matthew’s bedroom door to a

dutch door!!!

It is the safest place in the house for him,

he can play, have privacy and when he

does not sleep we know he is safe!!

Thanks to his dutch door, he sleeps in a

regular bed and has room to roam.

Part of his nightly routine includes;

diffusing therapeutic grade Young Living

Essential Lavender in his room an hour

prior to sleep and an Epsom salt bath with

a few drops of Lavender.

We love “pure” therapeutic grade lavender

because it assists with sleep and allergies

as it is a natural antihistamine.

WWW.ANGELMANTODAY.COM MAY / JUNE 2014

We have been using the Safety Sleeper for

our son Colin for more than a year now. It

has been a total game changer. Colin went

from being up three to four hours every

night, and he would kick the door and wake

up the whole house. Since we received The

Safety Sleeper, he sleeps 12 hours every

night! We have seen the greatest difference

when we travel. Before, we would go on

vacation and Colin would average two hours

a night — not much of a vacation! Now, we

take his bed, and he sleeps 12 hours! I can

break down the bed, and even check it on a

plane (it weighs about 25 lbs).

Colin is eight. A typical eight-year-old could

sit and watch TV while you showered. But

everyone who loves an angel knows that is

IMPOSSIBLE. But now, I’ll put Colin in his

bed, with his iPad and take a shower

knowing he is safe. The bed is also great

when Colin is over stimulated. Sometimes he

even asks to go in the bed with his iPad for

quiet time to calm down.

The bed is a twin size, and it sits right on his

mattress. It looks more like a spaceship than

a bed. When friends come over, they always

ask if they can play in Colin’s bed – they

think it’s so fun! I’m waiting for my typical five-

year-old to ask for one!

The price tag is a little hefty. Insurance did not

cover Colin’s bed, despite our best efforts. One

of our friends recently got one, and it was

covered — so it’s definitely worth a try to see if

your insurance will foot the bill. For our family,

however, the bed was worth every penny.

Colin was able to get off tranzene at night —

which was huge! And since he is sleeping, the

whole house sleeps. Everyone is happy,

especially me and my husband.

The company customer service is great. The

owner sent us a prototype for our vacation to try

before we bought the bed. (the prototype was an

exception and not standard practice for The

Abram’s Bed Co.) She even Facetimed with me

to help me set it up. When we purchased our

bed, one of the rails arrived with damage. We

notified the company, and they sent out a new

one immediately.

The bed was invented by a mom who has a son

with autism. He wasn’t a good sleeper, so she

invented a solution — and now she is helping

parents all over the world.

Check it out at www.thesafetysleeper.com

Angel Family Experience with the Safety Sleeper By Stephanie Moyer, Mom to Colin age 8

Thank you!

A Big Thanks to all of the contributors that help bring

you Angelman Today!

Angelman Today Supporters: Abram’s Bed www.thesafetysleeper.com

Linda Roberts www.youravon.com/lindaroberts

Shari Caspert www.youngliving4specialneeds.com

Jocelyn Silverman LHJBS18@gmail.com

All of the Angelman and

Associated

Foundations

across the globe

Contributors:

Sybille Kraft Bellamy

Shari Caspert

Karen Briggs Del La Fuente

Lana Kruger

Mary and Rory Moen

Kiren Sandhu

Kathy Parker

Stephanie Moyer

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 2013 Angelman Today, LLC. All rights reserved worldwide.

Dr. Harry Angelman

1915 – 1996

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.

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.

La Historia del Síndrome de Angelman

WWW.ANGELMANTODAY.COM MAY / JUNE 2014

How do I begin to tell everyone what this "Week

Off" has meant to us. It was way more than a

trip of a lifetime. First off, having “experts” like

angel mom Lisa Jamieson and the Hamms' PCA,

William Twiner providing care for our angel

Samantha turned out to be one the best

experiences ever. Sam’s aunties learned so

much from William and Lisa. What they left

behind was knowledge, inspiration

and motivation. To start with, Sam fell in love

with William immediately! Just to know that

Sam was in good hands and being completely

spoiled, allowed for us to really let go and relax.

We had been in a pictello rut and stopped using

it after some technical difficulties. Lisa made

several pictello stories to document the week

which Sam really enjoyed sharing at

school! Since our trip we’ve increased our use

of pictello and even included it in Sam’s recent

IEP. Sam’s communication is taking

off! During the last month, Sam has shown

increased head nodding for yes and no, increased

participation in morning meetings at school and

increased use of her PODD book! We have

been working on all of this since last fall, but we

have seen a huge growth spurt during the last

month!

Lisa also shared a gluten free recipe that she

suggested for Sam; French Toast Egg Bake.

Winners Mary and Rory share

their vacation with us By Mary Moen

I made it for Sam's lunch and Sam liked it so

much that she nodded her head for Yes when

asked if it was good and then used her PODD

book to say Thank You!!! Her para couldn’t

believe it, she wrote Sam’s whole school team

to document Sam communicating something

other than a request or something is

wrong! This is now a weekly staple!

It's the little things like this that all add up.

William and Lisa have helped to provide

opportunities for Sam to communicate about

things that matter to her!

WWW.ANGELMANTODAY.COM MAY / JUNE 2014

Angel’s Week Off

And now about our amazing trip of a lifetime!

We had 3 nights in San Francisco and 3 nights in

Napa Valley. In San Francisco we went

to Alcatraz, rented bikes in Golden Gate Park ,

had dinner in the Haight/Ashbury area and went

to a great little Mexican Korean dive and gorged

on the best (and only) Kim Chee Spicy Pork

breakfast burrito I've ever had! We drove down

to Carmel, golfed a little par 3 at Pebble Beach

and then had lunch overlooking the 18th Hole of

Pebble Beach (very exciting if you’re a

golfer!) Basically we ate our way through San

Francisco (and drank our way through Napa!).

Napa was a whirlwind! We got to meet Yolanda

Hamm shortly after we arrived. There is just

something about meeting other parents of

angels. This instant connection - knowing that

they get it, the good, the bad and the ugly. The

time we got to spend with Yolanda was the

best! Yolanda went out of her way to make us

feel like extra super special VIPs. The whole

weekend was beautiful, romantic and special.

We got to see many different artists perform at

various events. Colbie Caliet performed at a

vineyard while it was pouring down rain -

gorgeous! Passenger, a new favorite, was

amazing. I danced like crazy to Fitz and Tantrums

(apparently Yolanda has the incriminating evidence

on video). And then to end the weekend, Sarah

Mclaughlin dedicated her new song Beautiful Girl

to us and Angel Wings Foundation. We will

remember this week for the rest of our lives.

We really want to thank Reggie and Yolanda

Hamm and Angel Wings Foundation for putting

this dream trip of a lifetime together! We hope that

our experience will inspire others to support Angel

Wings Foundation in the hopes that other

families wanting a 'break' will have the same

opportunity. Even if you don't think you need a

break, your angel might think differently! Thank

you to William and Lisa for providing such loving

care to our daughter Sam. This week benefitted

Sam just as much if not more!!! Thank you to my

sisters Judy and Ann for staying at my house and

helping take care of Sam. Thank you to everyone

involved with Live At The Vineyard

for supporting this dream. Thank you Angelman

Today for being a part of the dream!

-Love (and big sloppy angel kisses), Mary, Rory

and Sam

WWW.ANGELMANTODAY.COM MAY / JUNE 2014

STAY CONNECTED ON THE GO

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WWW.ANGELMANTODAY.COM MAY / JUNE 2014

Help Me Fly Inc.

Help Me Fly Inc.

Mission Statement

Help Me Fly Inc.’s

Mission is to help families

gain access to adaptive

equipment that they

normally could not have

access to without some

type of outside help. We

strive to help these

families reach their full

potential by giving them

hope that they can still

have easy access to items

that can be essential to

their everyday lives.

Non-Profit Organization

My experience with Help Me Fly

Inc. was nothing less than

phenomenal. I found Lana to be

extremely hard working, organized

and devoted to Help Me Fly’s

mission. In 10 short days, the money

was raised for my sons adaptive

bicycle and it was ordered 2 days

after that. Lana made sure she didn't

miss a beat when it came to

answering questions, advocating for

my son and keeping me on the same

page. This was the first experience

I've ever had in 17 years that was a

joy when it came to obtaining

adaptive equipment for my son. I

couldn't recommend them more

highly if I tried.

Shannon Purcell, Mom to Kyle.

About Us

The idea behind Help Me

Fly comes from seeing

and hearing so many

parents struggle to get

items that can benefit their

families in so many

different ways. It can help

children gain access to

items that can keep them

active, help them gain

strength, safety items to

keep them safe, or it can

be an item that can help

them communicate with

their families. So many

families need things that

insurance finds medically

unnecessary even though

it can help these families

in big ways. Help Me Fly

wants to help these

families gain access to

these items.

Kyle Levin

Lana Kruger 812-390-2373

Shannon Purcell 630-915-4179

https://www.facebook.com/helpmeflyinc

helpmeflyinc@gmail.com

http://helpmeflyinc.wix.com/helpmeflyinc

Kyle Received

a Rifton Trike

Dr. Harry Angelman

1915 – 1996

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.

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.

The History of Angelman Syndrome

WWW.ANGELMANTODAY.COM MAY / JUNE 2014

WWW.ANGELMANTODAY.COM MAY / JUNE 2014

WHAT WE KNOW ABOUT THE HUMAN BRAIN

Dr. Edwin Weeber is a Professor at the University of South Florida in

the Department of Molecular Pharmacology and Physiology. He is

Director of the Neurobiology of Learning and Memory, the Cellular

Electrophysiology and the Murine Neurobehavior Laboratories. His

research is conducted at the USF Health Byrd Alzheimer’s

Research Institute, where he is currently the Chief Scientific Officer.

Dr. Weeber began his Angelman Syndrome research in 2001 as a Post

Doctoral Fellow at Baylor College of Medicine. His work has focused

on understanding the molecular mechanisms underlying the cognitive

disruption in the Angelman Syndrome mouse model. He is currently the

Primary Investigator for a clinical trial to determine the effectiveness of

the antibiotic Minocycline in the treatment of Angelman Syndrome.

Edwin Weeber, Ph.D.

Presenting May 15th 12-4pm

Tampa Convention Center

Tickets on sale

Angelman Syndrome Foundation – Walk Announcement

SOUL Electronics, a proud sponsor of the ASF Walk in

2013 is excited to return and offer a 10% discount off of

its products for Angelman supporters. When someone

goes onto www.soulelectronics.com to purchase any

products and enters in the promo code “angelman10” at

checkout, 10% of what they buy will be donated to the

ASF. SOUL Electronics is the pioneer of the first true

line of athletic headphones, designed for active

lifestyles, and co-developed, inspired and rigorously

tested by top professional athletes in the world – Tim

Tebow, Usain Bolt and Brendan Schaub. As a global

leader in audio consumer electronics, SOUL combines

innovative technology from an award-winning team of

engineers and durable, fashion-forward, high-definition

headphones – at affordable prices – that uphold the

brand’s core elements of “Power. Clarity. Comfort.”

(Picture from 2013 ASF walk – Orlando Florida)

Books Recommended by Parents

WWW.ANGELMANTODAY.COM MAY / JUNE 2014

Bye-Bye Winter Hello Summer!! By Sybille Kraft Bellamy

We are done with snowstorms, freezing rain and below

zero temperatures. Now it is time to enjoy the warmer

weather. Unfortunately our children with AS are not

well prepared for the hot temperatures. Max, 12 years

old, deletion + is extremely sensitive to hot weather and

humidity. To avoid any serious health issues we have to

ANTICIPATE.

Children and adults with Angelman syndrome have

body temperature regulation problems. They cannot

adapt to rapid temperature change or extreme

temperatures. In Max’s case he turns pale, his heart rate

gets elevated and he becomes very lethargic.

A major priority is to control his hydration. He needs to

drink a lot.

Children and adults following a ketogenic diet cannot

have sweet beverages. Everybody should have plenty of

water with electrolytes. Electrolytes are essential for the

normal functions of our cells and organs.

When the body temperature fluctuates the

level of electrolytes becomes imbalanced,

which can trigger seizures.

Trader Joes and Whole Foods both have bottled water

with electrolytes. It is good to keep a reserve of bottles

in your freezer and fridge. We buy electrolytes that

come in individual bags. They are easy to transport, we

keep some in the car, in our bags and at school.

For children who don’t want to drink and/or if they

don’t feel thirsty you have to find what will trigger the

desire to make them drink. It can be temperature related.

Some of our children prefer when it is cold or warm.

Some like to drink in a cup, with a straw, or a sports

bottle. You can also use organic unsweetened Jell-O to

thicken the fluids to avoid choking problems and for

children with sensory issues. Herbal teas are great for a

base, like mint or orange blossom and you can add the

electrolytes to the tea.

You can drink, freeze or use the tea with Jello as

well. In case of emergency we use a large syringe and

squeeze it in his mouth with the mixed electrolytes. It

is messy but funny! The syringe is a great way to get

children to drink. Bath time is also a great time to

introduce it as they think it’s a game and there is no

mess.

On the side of hydration we are always concerned

about the bus ride, especially coming back from

school when the temperature is the highest. We

bought a cooling jacket which is comfortable and

great for car travel, park and beach. If you can, avoid

the warmest time of the day for outdoors activities.

For children in school you must specify on their IEP

it is a priority that the bus has air conditioning. Some

States may not require all bus companies to have all

their buses provide air conditioning. However, when

it is in your IEP they must comply so make it a

priority and be in touch well in advance before the

hot weather hits. If your child has an extended school

program during the summer you may want to contact

your case manager to be sure it is the same bus

company and if it isn’t remind them of the IEP

specification concerning the air conditioning. We had

a bad experience with a new bus company and we

had to keep Max at home until they provided us a bus

with air conditioning.

If your child is showing signs of heat exhaustion you

must react quickly to avoid heat stroke, which can be

a very serious medical emergency situation. Undress

your child and sponge bath him with room

temperature water, avoid big temperature changes,

too cold can be a trigger for seizures. Use a fan or

stay in a room with air conditioning. Start rehydration

with small amount at a time with a spoon, cup or

syringe. Be sure to use electrolytes or home made

options. Check the body temperature, when your

child is feeling better you can give him a bath. If you

do not see improvement in the next hour you should

seek medical attention.

For more information about medical emergencies

check on the Angelman Syndrome Foundation web

site for the webinar with Dr. Justin Grill on

“Emergency issues with individuals with Angelman

syndrome”.

The Benefits of Juicing

mmm Good!

Juicing ! By Sybille Kraft Bellamy

A perfect way to provide a

great amount of vitamins

and minerals suitable for

individuals following LGIT.

Juicing has no limit! Let your imagination do the work!

There are so many options to make juices with the LGIT authorized list

of fruits and vegetables.

One of Max’s favorite juices is a mix of carrot, celery, apple, cucumber,

ginger, turmeric and one teaspoon of olive oil.

I use the vegetables as the larger quantity on the list of ingredients

followed by one or two pieces of fruit and the olive oil helps to

homogenize the juice.

You can drink the juice, freeze it as a Popsicle, keep it in ice cube tray or

make jello with it. It is great to have some frozen and ready to use. You

can defrost them any time in a cup of water.

Enjoy !

WWW.ANGELMANTODAY.COM MARCH / APRIL 2014

IT’S TIME TO WALK!

Top Five Fundraising TeamsThe Angelman Syndrome Foundation and the entire Angelman syndrome community are incredibly grateful for all individuals raising funds to support the AS community through the ASF National Walk. As of April 1st, the following five teams have raised the most funds online—please give these individuals and fundraisers a tremendous thank you!

Mia’s AngelsAmount Raised Online: $8,159Walk Location: Los AngelesMia Ramirez was diagnosed with AS in November 2013, and her parents—Jason and Ying—have mobilized their community to raise support for Mia and individuals with AS everywhere. To date, they have exceeded their fundraising goal by 60% due to the tremendous support of their colleagues, friends and family members!

Team TeddyAmount Raised Online: $5,780Walk Location: IndianapolisTeam Teddy was formed by ASF Board member Kathy Rokita and her husband Congressman Todd Rokita for their son, Teddy, who was diagnosed with AS just before his 2nd birthday. Now six years old, Teddy continues to inspire his friends, family and neighbors with his accomplishments, all of who are helping support Team Teddy during this year’s Walk.

Weston’s WarriorsAmount Raised Online: $3,530Walk Location: BostonThe Cecere family has rallied the Boston community to generate immense support for Weston Cecere, who is diagnosed with AS. To date, they have achieved half of their $7,000 fundraising goal and have continued to make significant headway in spreading awareness and generating support for the AS community through the Boston ASF Walk.

Team Nico DCAmount Raised Online: $3,455Walk Location: Washington, D.C.Support for Nico Rosenblatt-Hoerst, who is diagnosed with AS and the son of David and Karen, has spanned the Washington, D.C. community as well as the Cincinnati area, where his Nana, Cathy Hoerst, has formed team NicoCIN to raise additional support for Team Nico. These teams are raising significant support for the AS community!

Team AddisonAmount Raised Online: $3,365Walk Location: PittsburghThe Bellisario family—Sara, Brian, Addison, Delaney and Emery—have rallied the Pittsburgh community to support individuals with AS for several years now, having raised nearly $13,000 during the 2013 ASF National Walk. Addison, or Addie as her family calls her, is known for being resilient, sweet and a constant learner—her family, friends and neighbors could not be more proud of Addie and Team Addison!

The 2014 ASF National Walk is open for registration! 30 cities are participating and you can see the complete list and register by visiting Angelman.org/Walk. We look forward to seeing you this year!

The ASF National Walk is Around the Corner!

Mia’s Angels

Team Teddy

Weston’s Warriors

Team Nico DC

Team Addison

www.Angelman.org (800) 432-6435 Int’l (630) 978-4245 info@angelman.org

IT’S TIME TO WALK!Rockville Centre St. Patrick’s Parade

A huge thank-you to the RVC St. Patrick’s Parade committee and all who supported the Parade!The ASF is incredibly honored and appreciative to the Rockville Centre St. Patrick’s Parade committee, the Rockville Centre community, and all individuals who supported the Parade for their immense contributions in raising funds to support the AS community. The ASF was chosen as one of three charities to benefit from funds raised during the St. Patrick’s Parade. The ASF participated in the Parade, which was attended by thousands from the greater Long Island and NYC area, along with numerous individuals with AS and their families—it was an incredible turnout and the ASF is extremely grateful for the support from AS families and community members!

Participate in the ASF National Walk!Visit www.angelman.org/Walk to register today for the ASF National Walk. Thirty cities are hosting a National Walk site this year thanks to the tremendous hard work and dedication of volunteers and families of individuals with AS. We look forward to seeing you at one of the ASF National Walk sites or online as a virtual Walker!

Locations:BostonBreaux Bridge, LABuffalo, NYChicagoCincinnatiColumbia, SCDallasDanville, VA

DenverGrand Haven, MIHartford, CTHoustonHunstville, ALHutchinson, MNIndianapolisLas Vegas

Long IslandLos AngelesNashvilleOrlandoPhiladelphiaPhoenixPittsburghPuyallup, WA

SacramentoSalt Lake CitySan DiegoSt. LouisWashington, D.C.Wichita, KS

Angelman Syndrome Behaviors Informational SeriesThe most frequent requests for guidance and assistance from families of individuals with AS are related to behaviors. The ASF has listened to these concerns and in response has created a resource in partnership with the Canadian Angelman Syndrome Society (CASS) to help all individuals who care for and work with individuals with AS better understand the complexities of behaviors that people with AS exhibit. A variety of social, psychological, environmental, medical and communication factors affect behavior, and by better understanding how these external factors affect each individual with AS, concerned families and caregivers are better able to create an action plan to help modify challenging or aggressive behavior.

Accessible via www.angelmanbehaviors.org, the Angelman Syndrome Behaviors Informational Series provides assistance in the following areas:

1. Social and Environmental Influences on Aggressive Behavior 2. Mental Health Influences on Aggressive Behavior 3. Cognitive Issues, Sensory Impairments in Individuals with AS4. Neurologic and Medical Influences on Aggressive Behavior in

Individuals with AS5. Aggression as Communicative Behavior in Individuals with AS

Visit www.angelmanbehaviors.org to begin accessing these learning modules today!

Schedule of Upcoming SpeakersStay up-to-date with important topics related to AS with the ASF Educational Webinars! The webinars cover a wide range of topics including research updates, clinical developments, tips for everyday living and managing symptoms, and many more. Plus, you have the ability to ask questions and interact with the speakers, who are experts in their respective field. The webinars are intended to be a key source of information and support, and the ASF hopes that you find this resource valuable in your journey with AS.

April 16, 2014 at 2 pm EST: Dr. Justin Grill Dr. Justin Grill, an ASF Board member and board-certified emergency medicine physician, will discuss issues that involve individuals with AS and their interaction with the emergency department. He will discuss strategies to make the best of a stay in the ER and specific intervention information on topics such as trauma, toxicology (poisonings), and fevers.

May 29, 2014 at 7 pm EST: Dr. Arthur Beaudet Dr. Arthur Beaudet, an ASF-funded AS researcher at Baylor College of Medicine in Houston, will discuss his latest research in oligonucleotides and what it could mean for treatment of AS.

Early June: Erin Sheldon Erin Sheldon will discuss literacy in individuals with AS. Stay tuned for the exact date and time!

Educational Webinar SeriesAngelman Syndrome Foundation

ASF Educational Webinars

www.Angelman.org (800) 432-6435 Int’l (630) 978-4245 info@angelman.org

Two great events were hold last February to commemorate II International Angelman Day, to raise aware-ness about the syndrome and to draw people’s attention to our association and raise funds to �nance ongoing researches.

The �rst of them took place in Pontevedra (Galicia). These two events were two marches, one of them a biking and the other a hiking. The participation was extremely high, with more than 1000 registered participants making con-tributions. The total amount collected reached 7.500 euros, the money was used to �nance the research that Hospital Puerta de Hierro (Madrid) is doing with minocycline. More than 1.000 unwan-ted mobiles phones were donated.

Angelman Syndrome Association organized the II Professional Con-ferences for parents and professionals. We will discuss topics about behavior, com-munication and apilepsy among others.Find attached the com-plete program/plan of the conference.

“Let’s make the journey together”Conference 10-11th May-Madrid

Like last year, there was a Solidarity Paddle Tournamente in Cabanillas del Campo (Guadalajara). We had 33 pairs of players, both adults and children. Many people joined us to help on this important day. Cabanillas golf paddle club made a wonderful job. They make their facilities available for free and contributed to organize player groups. Furthermore, we could enjoyed an exhibition

by Adapted Paddle School (disabled people). It was a great day

in which we hold our crafts market made by parents of the Angelman

Association, we also had ra�es and entertaining activi-

ties for chil-dren.

Thanks to the colla-boration of many

companies in the area and to all the participants, the

campaign raised 1.670 Euros. We

also collected 410 unwanted mobile phones for their

subsequent sale.

T h e p r o c e e d s from this

action, as well as the total amount obtained from both events

(3.875 Euros) was e n t i r e l y donated to Foundation

for Angelman Syn-drome Thera-

peutics (FAST)

ASA

Activity-dependent changes in MAPK activation in the Angelman Syndrome mouse model

Written by Richard Newton; edits by Rebecca Burdine, Ph.D.

Angelman Syndrome (AS) is caused by loss of functional UBE3A protein expression from the maternal chromosome in affected individuals, but the specific roles this protein plays in the human brain are still being discovered.

The UBE3A protein functions as an ubiquitin ligase, adding ubiquitin to specific protein targets which typically marks them for destruction. Since ubiquitin ligases are involved in the break down and clean-up of proteins that have reached the end of their usefulness, they are sometimes referred to as “housekeeping proteins.” Housekeeping proteins are those involved in the routine maintenance of basic cell function and are thought to be expressed at fairly constant levels in different conditions (1). However, research is showing that there is more going on with how and why the UBE3A gene is expressed than is expected of a housekeeping gene.

Recent research conducted by Dr. Weeber and his team (2), funded by FAST, is shedding more light on the expression of the Ube3A gene in mouse – the triggers that cause the gene to create its protein. In their paper, Activity-dependent changes in MAPK activation in the Angelman Syndrome mouse model, Dr. Weeber and his team show that not only did they observe that neuronal activity could regulate expression of maternal Ube3a, they observed changes in the amount of paternal Ube3a expression as well.

Most of what we have learned about the expression of Ube3a protein was determined while the system was at rest. That is not to say it was static, because biological systems rarely are, but the neurons weren't being stimulated by excitatory or inhibitory input - they were essentially "resting". A recent paper by Greer in 2010 demonstrated that Ube3a expression was upregulated during induced seizures or in response to new environments, suggesting a link between neuronal activity and Ube3a expression (3). This current report extends those findings and demonstrates that “learning events” increase Ube3a protein levels. Intriguingly, the increase in Ube3a protein came from expression of both the maternal and paternal genes in the hippocampus. Thus, the notion that the paternal gene is “silent,” or not expressed, in the brain is beginning to be challenged.

Additionally, the research showed that lack of Ube3a protein prevented activation of other proteins, specifically the ERK (Extracellular-signal-Regulated Kinases)1/2 kinase proteins. ERK 1/2 kinases control expression of other genes and are activated by addition of a chemical phosphate (referred to as “phosphorylation”). The reduction of phosphorylated ERK in mice lacking maternal Ube3a is significant as ERK activity is well known to be necessary for synaptic plasticity and formation of

Activity-dependent changes in MAPK activation in the Angelman Syndrome mouse model

memories. Thus, this may be a mechanism that contributes to reported deficits in synaptic plasticity and cognitive function in AS mice and in patients with AS.

Taken together, the findings provide new insight into both the expression of Ube3a by neuronal activity and also Ube3a’s potential role in synaptic plasticity. In the future, targets of ERK1/2 can be explored to identify potential “druggable” targets to explore for AS therapeutics. The findings also highlight the need to explore the mechanisms that control expression from the paternal chromosome. These may reveal additional ways we can utilize to increase the levels of UBE3A in individuals with AS, but should also be taken into account with current efforts to reactivate the paternal allele.

To read the abstract on PubMed, click here.

1. Human housekeeping genes, revisited. Eisenberg E, Levanon EY. Trends Genet. 2013 Oct;29(10):569-74. PMID:23810203

2. Activity-dependent changes in MAPK activation in the Angelman Syndrome mouse model. Filonova I, Trotter JH, Banko JL, Weeber EJ. Learn Mem. 2014 Jan 16;21(2):98-104. PMID: 24434871

3. The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc. Greer PL, Hanayama R, Bloodgood BL, Mardinly AR, Lipton DM, Flavell SW, Kim TK, Griffith EC, Waldon Z, Maehr R, Ploegh HL, Chowdhury S, Worley PF, Steen J, Greenberg ME. Cell. 2010 Mar 5;140(5):704-16. PMID: 20211139

Congratulations to Chris Robertson and Alex Geisler - FOR THE ANGELS team members -who both successfully completed the 2014 Goldrush Multisport Event at the end of March. Chris, a dedicated trustee for The Angelman Network, says, “ It was the toughest thing I have ever done; with a lot of physically and emotionally challenging aspects to it.” This gruelling event took place over 2 days in a remote rural location on New Zealand’s South Island. “The new swim section was the toughest.” Chris says. “but we both knew if we can complete the swim, we would finish the race. Overall it was a privi-lege to compete for you, and your angels.”

In May last year, Alex and Chris established For The Angels as a personal campaign dedicated to raising funds and awareness for The Angelman Network. Neither Alex nor Chris are parents or relatives of an angel. Alex says,” The reason we have chosen to support this worthy cause, is the daughter of a friend of ours, suffers from this syndrome. After hearing of the experiences that he and his wife have been through, and the daily challenges Angelman Syndrome brings, we wanted to offer what support we can - financially and through educating people.” The team began training and participated in numerous endurance events around the country, racing on weekends in all weather conditions. They shared their experiences on their Facebook page and website, each step of the way - raising awareness and funds for AS in many different community sectors. The Angelman Network Board of Trustees and all our AS families in NZ wish to thank Chris and Alex (and their families) for such a generous show of support. We are truly grateful for all the time and energy they so willingly contributed to our cause. - Ursula Cranmer, Chairperson

Raising awareness for AS, one race at a time

iPad offers family new hope (click to follow link)

Jono and Sivao Winther are Cultural Advisors for The

Angelman Network in New Zealand. This news article was written as a follow-up to the Angelman Conference they both attended in Sydney, Australia, in October 2013.

Rakesh Patel is a paediatric neurologist at Starship Children's Hospital in Auckland. He also attended the conference in Sydney. Dr Patel is currently working with The Angelman Network to establish a team of specialists that will become the Angelman Medical Advisory Board in NZ.

The International Communication Project

2014 (ICP 2014) The Angelman Network is supporting and promoting the International Commu-nication Project 2014 (ICP 2014) which aims to high-

light the importance of human communication

and how communication disabilities severely

impact every aspect of life. For more information, see: www.communication2014.com

Trustees Louise Alcock and

Ursula Cranmer with Alex

and Chris - FOR THE ANGELS

Alex and Chris

www.now-its-on.com Now its really on...!!!

The Angelman Network is

dedicating $30K this year

towards the now-its-on

campaign. This

inspirational challenge is a

collaborative venture

initiated by the

international Angelman

community.

The intention is to

collectively raise 50 Million

for AS research by Dec

2015; the 50th anniversary

since Dr Harry Angelman’s

publication that described

this syndrome for the first

time. Spread the word. See

the website for more info

on this campaign.

Current international projects we are

supporting:

Thanks for your support!

Please Share Angelman Today

www.angelmantoday.com

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