Angelman Today Nov-Dec 2013.pdf

8/14/2019 Angelman Today Nov-Dec 2013.pdf

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SPECI L HOLID Y EDITION

The HistoryOf

What is a

MAPS Dr.?

Celebrate the Holidays with Less Stress

Holidaygiftguide

digital magazine


2/42

The Holiday Season is upon usTisthe season for giving thanks and celebrating with friends and

family. Time for office parties, dinner parties and time to take-

out- the- good- dishes parties.

I will began by thanking everyone who has helped create and

support Angelman Today! Thanks to all of the readers that have

reached out and expressed your appreciation for having such awonderful new resource.

I know that it is from the bottom of our hearts that we work so

hard to help bring the global community together and share our

experiences. As parents, we work on Angelman Today in between

caring for our Angels - which you know is a task-and-a- half, - and

caring for our families and/or working at other jobs. The

Professionals of our medical and scientific advisory board

generously give of their limited time to write and send in articles,

comments and quotes.

I am so very grateful for the health of my family especially

Nathan, who is doing amazingly well, thanks to our MAPS

physicians. I am thankful to every organization and community

member that has joined Angelman Today and shares the vision of

uniting a global community, sharing resources, information and

helping to improve the daily lives of individuals with Angelman

Syndrome everywhere! I am truly amazed how quickly things are

happening and how Angelman Today is already reaching intomore than 40 countries and territories.

I wish you all a very happy and healthy holiday season with close

friends and family and the friends that ARE family!

Warm Wishes,

Lizzie Sordia

Editor - in - Chief

EDITORS LETTER


3/42

Mosaicism in Angelman Syndrome..6

By Dr. Charles A. Williams

The History of Angelman Syndrome7

Emergency Preparedness.9

Words of Wisdom..13

What is a MAPS Dr.?

Interview with Dr. David Berger..14

Christmas Gift Ideas.17

Little Keeper Sleepers..19

LGIT (Low Glycemic Index Treatment)

Sweet Treat for the Holiday Seasonby Sybille Kraft Bellamy....21

Managing Holiday Stress.24

by Eileen Braun

A Fathers View By Peter Kraft32

Angels in ActionFrancoise...38

Clinical Trial for Seizures in

Children Using Cannabis..39

Whats inside

Angelman and Associated

Foundations

Syndrome Angelman France ...4

Casa AngelmanArgentina.8

Angelman Syndrome Belgium12

THERAsurf16

The Angelman Syndrome

Foundation.22

Angelman SyndromeAssociation Spain.28

The Angelman NetworkNew

Zealand..31

Israeli Angelman Syndrome

Foundation.34

The Charlie Foundation...35

FAST...40

Cannabidiol (CBD)

clinical trial to begin2 9

76

39

17

Cover:

Nathan Sordia,

5 yrs old, AS


4/42

Syndrome Angelman France is an association created

nationally for those families and friends of people who have

the care of SAF. The administration of SAF is composed of

families as well as professionals from the medical,

paramedical and medico-social world. The functioning of

SAF is totally assured by voluntary workers.

What does the S.A.F. Association propose:

- Enchance the expertise of parents in organizing andfacilitating the dissemination of information and sharing

experiences. This is why a website magazine has been

created and managed ( www.syndromeangelman-france.org

) This site is interactive , collaborative, and has a regular

and consistent link with families spread over the five

continents.

- Be a resource center for families having someone with this

disability in society.

- Deepen reflection on their own disability of mentalhandicap and thus contribute to others a view on this

difference.

- Publicize the Angelman syndrome.

- Encourage and help the research by informing and

sensibilizing medical, paramedical, social and medico-

social groups on traditional and innovative educational

methods adapted to the Angelman syndrome.

- Cooperate by exchanges with other regional and national

associations, who have the same values and objectives.

Two SAF actions:

- Inventory of individuals with Angelman syndrome.

- Find the results of our investigation on the website:

http://www. syndromeangelman-france.org/wp-

content/uploads/Survey-Angelman-Adult-2013-France.pdf

Syndrome Angelman Francewww.syndromeangelman-france.org

www.facebook.com/Syndrome.Angelman.France

A BOOK TO READ:Angelman Syndrome - A look on

a rare neurogenetic disease.

This book is published by EditionsH. prefaced by Professor DAN and

written by Anne Castle. Anne is the

mother of a young adult Angelman

and Vice-president of the

Syndrome Angelman France

association.

Collection Sciences et Socit

Editions LHarmattan

BUY TODAY WITH THIS LINK:

A lire : Le SA, Regard sur une

maladie neurogntique rare, un

livre publi aux ditions H, prfac

par le Pr DAN et crit par Anne

Chteau, maman dun jeune adulte

A et Vice-prsidente de

lassociation SAF
http://www.syndromeangelman-france.org/http://www.syndromeangelman-france.org/wp-content/uploads/Survey-Angelman-Adult-2013-France.pdfhttp://www.syndromeangelman-france.org/wp-content/uploads/Survey-Angelman-Adult-2013-France.pdfhttp://www.syndromeangelman-france.org/https://www.facebook.com/Syndrome.Angelman.France?fref=tshttp://www.editions-harmattan.fr/index.asp?navig=catalogue&obj=livre&no=40563http://www.editions-harmattan.fr/index.asp?navig=catalogue&obj=livre&no=40563http://www.editions-harmattan.fr/index.asp?navig=catalogue&obj=livre&no=40563http://www.editions-harmattan.fr/index.asp?navig=catalogue&obj=livre&no=40563http://www.editions-harmattan.fr/index.asp?navig=catalogue&obj=livre&no=40563http://www.editions-harmattan.fr/index.asp?navig=catalogue&obj=livre&no=40563http://www.editions-harmattan.fr/index.asp?navig=catalogue&obj=livre&no=40563http://www.editions-harmattan.fr/index.asp?navig=catalogue&obj=livre&no=40563http://www.editions-harmattan.fr/index.asp?navig=catalogue&obj=livre&no=40563http://www.editions-harmattan.fr/index.asp?navig=catalogue&obj=livre&no=40563http://www.editions-harmattan.fr/index.asp?navig=catalogue&obj=livre&no=40563http://www.editions-harmattan.fr/index.asp?navig=catalogue&obj=livre&no=40563http://www.editions-harmattan.fr/index.asp?navig=catalogue&obj=livre&no=40563http://www.editions-harmattan.fr/index.asp?navig=catalogue&obj=livre&no=40563http://www.editions-harmattan.fr/index.asp?navig=catalogue&obj=livre&no=40563http://www.editions-harmattan.fr/index.asp?navig=catalogue&obj=livre&no=40563http://www.editions-harmattan.fr/index.asp?navig=catalogue&obj=livre&no=40563http://www.editions-harmattan.fr/index.asp?navig=catalogue&obj=livre&no=40563http://www.editions-harmattan.fr/index.asp?navig=catalogue&obj=livre&no=40563http://www.editions-harmattan.fr/index.asp?navig=catalogue&obj=livre&no=40563https://www.facebook.com/Syndrome.Angelman.France?fref=tshttp://www.syndromeangelman-france.org/http://www.syndromeangelman-france.org/http://www.syndromeangelman-france.org/http://www.syndromeangelman-france.org/wp-content/uploads/Survey-Angelman-Adult-2013-France.pdfhttp://www.syndromeangelman-france.org/wp-content/uploads/Survey-Angelman-Adult-2013-France.pdfhttp://www.syndromeangelman-france.org/wp-content/uploads/Survey-Angelman-Adult-2013-France.pdfhttp://www.syndromeangelman-france.org/wp-content/uploads/Survey-Angelman-Adult-2013-France.pdfhttp://www.syndromeangelman-france.org/wp-content/uploads/Survey-Angelman-Adult-2013-France.pdfhttp://www.syndromeangelman-france.org/wp-content/uploads/Survey-Angelman-Adult-2013-France.pdfhttp://www.syndromeangelman-france.org/wp-content/uploads/Survey-Angelman-Adult-2013-France.pdfhttp://www.syndromeangelman-france.org/wp-content/uploads/Survey-Angelman-Adult-2013-France.pdfhttp://www.syndromeangelman-france.org/wp-content/uploads/Survey-Angelman-Adult-2013-France.pdfhttp://www.syndromeangelman-france.org/wp-content/uploads/Survey-Angelman-Adult-2013-France.pdfhttp://www.syndromeangelman-france.org/wp-content/uploads/Survey-Angelman-Adult-2013-France.pdfhttp://www.syndromeangelman-france.org/wp-content/uploads/Survey-Angelman-Adult-2013-France.pdfhttp://www.syndromeangelman-france.org/wp-content/uploads/Survey-Angelman-Adult-2013-France.pdfhttp://www.syndromeangelman-france.org/http://www.syndromeangelman-france.org/http://www.syndromeangelman-france.org/


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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.

hank You

A Big Thanks to all of the contributors that help

bring you Angelman Today!

All of the Angelman

and Associated

Foundations

across the globe

Dr. Charles Williams of University of Florida

Dr. Elizabeth Thiele of Mass General

Dr. David Berger of Wholistic Pediatrics

Contributors:

Angelman Today Supporters:

Sleep Safe Beds - www.sleepsafebed.com

Little Keepers Sleepers

www.littlekeepersleepers.com

MediPal www.medipal.com

Sybille Kraft Bellamy

Peter Kraft

Charles De Broin

Eileen Braun

Anne Chateau

Karray Shwartz Cox
http://www.sleepsafebed.com/http://www.littlekeepersleepers.com/http://www.medipal.com/http://www.medipal.com/http://www.littlekeepersleepers.com/http://www.sleepsafebed.com/


6/42

In the last edition, I reviewed

the four genetic mechanisms

that can disrupt the Angelman

syndrome (AS) gene:

chromosome deletion,

imprinting defect, mutation in

UBE3A and paternal

uniparental disomy. When an

individual with AS has one of

these defects, it is typically

present in every cell of the

body, since the defect existed at

the time of conception when the

sperm and egg fused to form

the first cell of the embryo. All

of the subsequent cells are thus

derived from this original cell.

It is possible in rare situations

however for the AS defect to

occur after the first cell

divisions of the embryo suchthat there is a normal and an

abnormal cell line; the general

term for this phenomenon is

cell mosaicism.

Mosaicism in an individual

with AS means that a few cells

in their body (and also in their

brain) are normal. These

normal cells coexist with all ofthe other cells that have the AS

defect. Mosaicism in AS most

often occurs in imprinting

defects that do not involve

deletions of the imprinting

center (the great majority of

those with imprinting defects

are of this non-deletion type).

About 10 to 30% of individuals

with the non-deletion type mayhave a small percent of their

cells that are normal.

without the typical 15q11.2-q13

deletion. For example, 80% of the

cells in the blood may have the

typical AS deletion while 20% of

the cells are normal. The same can

theoretically occur for those with

AS due to uniparental disomy. To

my knowledge, mosaicism for

UBE3A mutation, identified by

blood study in an individual with

AS, has not been reported but that

is also theoretically possible.

In a mother who has an AS child

with a UBE3A mutation,

mosaicism involving UBE3A has

been detected in her in what is

termed "germline" mosaicism.

Here, the mother's blood cells are

normal but apparently in her

ovaries there are egg (e.g., germ)cells that have the UBE3A

mutation. This situation is

presumed to be present, for

example, when the mother gives

birth to two subsequent children

with AS, each having the same

UBE3A mutation, but studies of

the mother's blood are completely

normal. The diagram illustrates

this type of germline mosaicism(blue cells are the normal cells) and

contrasts it to the other type of

mosaicism that is discussed above,

termed constitutional meaning

that cells throughout the body are

involved.

Understanding mosaicism in AS

can be complicated especially

when considering the possibility of

germline mosaicism in mothers,since this rare condition can lead to

recurrence of AS among siblings.

We detect evidence of this by the

DNA methylation test that is

performed on blood. When the test

suggests mosaicism, we presume

(but do not really know) that cells

in the brain also have a similar

percentage of normal cells. In

instances of imprinting mosaicism,

the percent of normal cells is

usually less than 20%. Individuals

with AS who are imprinting-type

mosaics can have relatively higher

developmental ability. Some have

been noted to speak words and

even to put words together, morethan is seen in the typical child

with AS who is non-mosaic. They

may also have better motor ability

(e.g., almost normal walking) and

relatively higher cognitive skills

The three other mechanisms that

cause AS are much less likely to

have mosaicism but a few rare

instances have been reported.

Chromosome studies (eithermolecular or FISH-type) may

identify a small percent of cells

By Dr. Charles A. Williams


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Dr. Harry Angelman

19151996

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 calledA Boy with a Puppetby 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, hispaper 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 ofMedical 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 AngelmanSyndrome.

The History of Angelman Syndrome


8/42


9/42

How to Gather Emergency Supplies

When Hurricane Sandy hit the East coat in

2012 we lost electric power for 5 days and

were under a curfew for a week with limited

access to our regular food sources of supply.

My son Max celebrated his 11 birthday with

candles, a lot of candles! Candles were the

main source of light in our kitchen. We have a

generator and we used it most of the day to

recharge our laptop, phone and fridge and tokeep our furnace going.

We had known for days that our area would be

on the storms path. We were not particularly

concerned by the flooding because we are

located on a hill, but we knew we might lose

power and we did.

It made me realize how quickly life canchange and disaster can strike. Sandy did not

affect us too much. Max was safe in our house

and I had enough food stored for him. Still, I

became aware of how unprepared I was to

cope with the needs of a child like Max if

things had been worse. What if we had had to

evacuate? Would I have had time to pack

everything I needed for him: his rescue

medication, his food, his clothes and diapers?

In the middle of a crisis, would I have

remembered everything I needed to take

along?

I decided I had to learn what it would take

for me to be prepared. Here is what I have

discovered and would like to share with

you:

Our angels are extremely sensitive to stress;

a new situation, new environment and a

new routine can be challenging. If we had

to evacuate for any reason it would be

quick, with no warning, and most likely in apanic mode.

As a result, Max would be exposed to a

different environment, to noise and light in

a shelter, and to new people. Most likely he

would also become sleep deprived and I

would not be able to prepare his usual

meals and follow his special diet. All theses

factors can trigger seizures, as we know.

Most of the time when a hurricane or a

snowstorm hits you will receive a warning.

But if an unpredictable natural or man-

made disaster strikes you will have no time

to plan and you will have to leave.

Every situation is different and each child

may have different and very specific needs

but here is a list of basic things you willneed and a list of websites where you can

get information to help you be better

prepared.

Emergency preparedness for children with

specials needs following a therapeutic diet.By Sybille Kraft Bellamy
http://medipal.com/medipal-emergency-seatbelt-id/http://medipal.com/medipal-emergency-seatbelt-id/


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Disaster Supplies Kit

A disaster supplies kit is a collection of basic items that could be needed in the event of a

disaster. For our children with special needs we need very specific things.

It is recommended to have the following:

Medical alert tags or bracelets that identify the medical condition, i.e. name of thesyndrome, epilepsy, allergies, glucose dextrose intolerance

A two-week medication supply ready for an eventual evacuation. A prescription with the

patients name and his regular medication is also recommended.

A portable bottle if your child is on O2.

Copy of personal documents (list of medication list and any pertinent information)

Your child special cup/bottle.

Water; one gallon per day. 3-day supply, 2-week supply for home.

Non-perishable food. 3-day supply for evacuation, 2-week supply for home.

Cans of coconut milk/unsweetened condensed milk/whipping cream Peanut butter/nuts butter/coconut oil

Individual electrolytes bags/baby formula/ketocal

Cans of tuna/ sardines/lentils/beans

Emergency sleeping bags

Emergency blanket

Can opener /fork/spoon/multipurpose tool

Flash light

Diaper/wipes/Clorox wipes

Extra clothes

Charger for iPods/iPhone

For more information, please visit:

CDC Emergency Risk Communication Branch (ERCB)

Division of Emergency Operations (DEO)

Office of Public Heath Preparedness and Response (OPHPR)

The American Red Cross .Get a survival kit

Are you ready? An in-depth guide to citizen preparedness.(Publication No.IS-22) (2004

August) Basic preparation pages 13-46

FEMA Are you ready? Recovering from Disaster.


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FDA Registered 866-852-2337

Were here to help.

SleepSafe II - Medium Bed

with Padding and IV Accessories

SleepSafe - Low Bed

SleepSafer- Hi gh Bed

offers the most safety protection

with two removable safety rails.

SleepSafe Beds is domestic USA manufacturer of

adaptable safety beds, featuring removable safety

side rails, designed to virtually eliminate

entrapment and falls for those with special needs.

The SleepSafe bed line includes SleepSafe,

SleepSafe II, and SleepSafer models, each

offering more safety rail to mattress height.

SleepSafeBed.com

SleepSafe II

- Medium Bed in Multi-Color

SleepSafer- High Bed

with one safety rail removed

and one safety rail rotated down

SleepSafe II

- Medium Bed in White

SleepSafe Beds are built to each order, offering

twin or full size; fixed, articulating or HiLo frames;

padding; and a range of finishes. SleepSafe Beds

help those with special needs get a safe, restful

sleep and smiles on the faces of their

caregivers, who see their loved ones getting

the sleep they deserve.


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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 Syndromeso 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 grandpa-

rents of the Angelman child are very welcome tojoin on these days. Our organization tries as

well to raise awareness of the angelman syndro-

me to physicians and caregivers. Also scientific

research is supported by our association.

FOLLOW US ON

Parents Organisation

A N G E L M A N S Y N D RO M E B E L G I U M

https://twitter.com/angelmanSB

https://www.facebook.com/#!/Angelmansyndroom

www.angelmansyndroom.be

[email protected]
https://twitter.com/angelmanSBhttps://www.facebook.com/#!/Angelmansyndroomhttps://www.facebook.com/#!/Angelmansyndroomhttps://twitter.com/angelmanSB


13/42

Dads and Dudes with Angels:By Charles De Broin, from Montreal Quebec

Do we dads have it easy, you say.

That romantic night turns into a nine month wait for a

little miracle of life.

Mom suddenly takes over and knows what to do,

almost by instinct, or is it the eighteen girlfriends and

her mom that make it all dizzily work.

No sleep, no more calm evenings to watch the game

on t.v. but all this is so much fun.

They grow so fast and suddenly you realize

something is wrong.

Mother panics, dad comforts her to no avail.

Doctors spin to find what it is that makes an otherwise

healthy baby not progress as the growth curve

indicates.

Give it a while, children grow at varying rates, the

good doctor says.

Unsatisfied, mom turns to every avenue and is told

that a genetic test might pinpoint the culprit that is

making our baby so different than her sister Helens

baby.

The test is done and Angelman Syndrome is defined

as the source of our babys problem.

The questions begin Will he talk, will he walk, that

dream of him being a lawyer is still alive isnt it, will he

be able to play baseball or soccer????? Mom is

more rational It doesnt matter, I will love him no

matter what, just make those damned seizure stop

doctor, please!!!.

The fear give way to advocacy, mom is a spoke-person

for equal rights of the disabled in the school, the

community and rattles parent teacher groups for

change in a system cold and oblivious to the less

fortunate. Dad starts a foundation for latter years andreluctantly accepts the defeat of not having the

brightest and strongest boy on the block.

Before either of them know it their son is over 30 and

both mom and dad realize that the dream of having a

child in their lives forever, has come true

He now lives in a group home, but visits regularly at

home and yes, mom and dad have a tag team

arrangement when their son still wakes up at 3:00a.m. ready to start his day. They still visit the farm to

see his favorite horse and in the summer visit their little

country place where he can stare into a campfire and

giggle as mom and dad sing campfire song like when

he was a child.

And this summers holiday spent with mom and dad,

both tired and sleep deprived after a few short nights.

Both looking at each other and speaking of enjoying

that unconditional love that hug at bed-time thatspeaks so much of thanks and recognition.

Words

Of

WisdomWords Of WisdomParent Shared Experience


14/42

WHAT IS A MAPS DOCTOR

AND WHY SHOULD I HAVE ONE?MAPSMedical Academy of Pediatric Special Needs

nterview with Dr. David Berger Wholistic Pediatrics and MAPS Physician

The Medical Academy of Pediatric Special Needsis a group of professionals who offer a

Comprehensive Education and Fellowship to

Medical Professionals for the care of children

with Autism Spectrum Disorders and related

Chronic Complex Conditions. Their mission is to

prepare medical professionals to deliver the best

possible care to children with ASD and other

special needs conditions. Under the guidance of

Daniel Rossignol MD, FAAFP, this uniquelydesigned scientific evidence-based course of

study is designed by clinicians, for clinicians.

MAPS Physicians are at the forefront of helping

families by thoroughly assessing and treating the

chronic conditions based on science and the needs

of each individual that can positively affect ones

quality of life.

I recently had the privilege of catching up with

one of the busiest lecturing physicians of MAPS,

Dr. David Berger, MD, FAAP. Dr. David is a

board-certified pediatrician who specializes in

holistic pediatric primary care, nutritional and

detoxification therapies.

How can this approach help individuals with

Angelman Syndrome?

Dr DavidThe approach is an individualized

approach. It is about Biochemistry and looking

into the body and treating the body as a whole.

(The reason he named his practice Wholistic

Pediatrics and Family Care

www.wholisticfamilycare.com) We are also

documenting that individuals with Down

Syndrome (also a genetic condition) are also

improving with Biomedical treatments, so weknow that established genetics conditions can

benefit from theses treatments.

.

Dr. David (as he is referred to by his patients) isno stranger to Angelman Syndrome, in fact, he

has worked with Dr. Jaime L. Frias (from the

Department of Pediatrics, Division of Genetics

University of Florida College of Medicine, co-

author of the 1982 paper in the American

Journal of Medical Genetics on Angelman

Syndrome), he is also my son Nathans

Pediatrician.

The individualized approach is simple

Biochemistry, Physiology and Anatomy.

Providing practical solutions of treatment. The

time spent with each patient is very important.

A five minute consultation cannot treat a

patient effectively. A complete evaluation is

necessary to find and correct the underlying

abnormalities.

Many of the chronic conditions that

individuals with Angelman syndrome can be

treated for are; Nutritional deficiencies,

metabolic deficiencies, Mitochondria

dysfunction, Methylation problems,

inflammation, Constipation/diarrhea, illness

ear infections, allergies, sleep disorders,

seizures and more. The ability to truly get

individuals healthy is what I have found with

you and MAPS Doctors. These aretreatments that can be done today!

Yes, you have just described my overall caree

and the chronic conditions we treat weather it i

individuals with Autism, Down Syndrome, or

Angelman Syndrome. The path to healing is

like a marathon, I explain to my patients, it is

not a sprint. It is a steady process, much like

lifting up the hood of a car and checking theengine. We must look inside the individual and

evaluate the intestinal track, food digestion,
http://www.wholisticfamilycare.com/http://www.wholisticfamilycare.com/


15/42

immune system, vitamin/mineral deficiency and

toxicity. Some of these tests can be run by regular

labs, but other tests require more specialized labs.

Most mainstream doctors do not do these tests.

Getting to the cause and correcting the problem is

the goal. The individualized approach helps us do

that. Treatments often include dietary changes,

nutritional supplements and medications. MAPS

will ensure that physicians meet a certain standardso parents can be assured they are receiving

evidence-based information for their child.

Dr. Berger is a Board Certified

Pediatrician who specializes in

holistic primary care, nutritional

and detoxification therapies for

autism, ADHD and related

disorders, and immunedysregulation such as allergies, asthma and

autoimmune disorders. He sees children and adults

with these medical conditions.

In addition, Dr. Berger works with women and men

who wish to do preconception and prenatal counseling,

testing and treatments to try and optimize the health of

the pregnancy and baby.

He graduated from The Medical College of

Pennsylvania in 1994 and did his Pediatric Residencyat the University of South Florida. He started using

holistic therapies at the Tampa General Hospital/USF

Pediatric Clinic during his residency. He has served as

the team doctor for Tampa Catholic High School, the

Medical Director for a summer camp run by the Tampa

AIDS Network, and the Medical Liaison for the Palm

Beach County Breast Feeding Task Force. He has been

in private practice since 1997, and in 2005 he opened

Wholistic Pediatrics in Tampa, Florida. Dr. Berger has

been an advanced practitioner of biomedical therapies,advocating the Autism Research Institute philosophy,

since 1999. In 2010, Dr. Berger was appointed the

position of Assistant Professor at the University of

South Florida College of Nursing, and in 2011 he

became Vice President of the Medical Academy of

Pediatric Special Needs.

Wholistic Pediatrics and Family Care

3341 W. Bearss Avenue,

Tampa, FL 33618

Tel: 813-960-3415Email: [email protected]

Website: www.wholisticfamilycare.com

MAPSMedical Academy of

Pediatric Special Needs

www.medmaps.org

Locate a MAPS Practitioner atwww.medmaps.org/clinician-directory

Parents seek out MAPS professionals

because.

They know their child is being well cared for

by well versed and educated medical

professionals at the top in their field.

MAPS Trained Medical Professionals haveundergone intensive CME coursework, based

on scientific research to address and treat the

medical issues related to Autism and other

related disorders.

MAPS welcomesMD, DO, ND, PA, NP, RN, & LPN

Refer your medical professionals to a MAPS

Clinicians Training Course

For more information:

The Medical Academy

of Pediatric Special Needs

16251 Laguna Canyon Rd, Ste 175

Irvine, CA 92618

Toll Free: 855.447.4200

Tel: 307.213.1400

Fax: 307.213.1401

Email: [email protected]
mailto:[email protected]://www.wholisticpeds.com/http://www.medmaps.org/http://www.medmaps.org/clinician-directory-new-list/mailto:[email protected]://twitter.com/WholisticPedshttps://www.facebook.com/WholisticPediatricsFamilyCare/infohttps://twitter.com/MedMAPShttps://www.facebook.com/pages/Medical-Academy-of-Pediatric-Special-Needs-MAPS/140772766086961mailto:[email protected]://www.medmaps.org/clinician-directory-new-list/http://www.medmaps.org/clinician-directory-new-list/http://www.medmaps.org/clinician-directory-new-list/http://www.medmaps.org/http://www.wholisticpeds.com/mailto:[email protected]


16/42

"THERAsurf is an amazing organization. My son, Finn, thoroughly enjoyed his surf experience - he spent theentire time grinning and giggling with utter joy. But the real gift of THERAsurf is much more important thanone wonderful day - watching from the beach as one of the surfers paddles out into the ocean with yourchild and then catches a wave is the most awe-inspiring and emotional experience imaginable. With eachwave barriers and limitations given by doctors are smashed and you are left with the realization that givenproper support the opportunities and possibilities for your child are endless. Thank you THERAsurf for a life-changing experience! --Tina Thompson

We help children and their families access the

stoke of surf culture, and aspire to create a can-doenvironment in a world full of limitations.

www.therasurf.org


17/42

Epilepsy Awareness

November is Epilepsy Awareness Month

Did you know?-1 in 10 people in the US have had a seizure.

-The majority of individuals with Angelman Syndrome have Epilepsy.

For more info visit:

www.epilepsyfoundation.org
http://www.epilepsyfoundation.org/index.cfmhttp://www.epilepsyfoundation.org/index.cfm


18/42

The Most

Gift Guide!

-Two Winners will receive 2 Sleepers of their choice!

-Two Winners will receive 2 Zip Bibs!Enter online at www.angelmantoday/category/contests

Finger

paintgift - set

Water Table

Discovery

digital camera

Apple iPad

Safety First Trampoline

Wooden

Bead

Maze

Nabi

Weehoo iGo

Bicycle trailer

Click images

& shop

Amazon!
http://www.angelmantoday.com/category/contests/http://www.amazon.com/b/ref=as_acph_cc_xmas_111_1224?ie=UTF8&node=237796011&tag=wwwangelmanto-20&camp=0&creative=0&linkCode=ur1&adid=1SJM41JTQ440PMZK3BN8http://www.amazon.com/dp/B007T95EQ0/ref=as_li_tf_til?tag=wwwangelmanto-20&camp=0&creative=0&linkCode=as1&creativeASIN=B007T95EQ0&adid=0DYC6E5ATV6FS1XKJZMZhttp://www.amazon.com/dp/B000SONEQA/ref=as_li_tf_til?tag=wwwangelmanto-20&camp=0&creative=0&linkCode=as1&creativeASIN=B000SONEQA&adid=048D2CWPMWFNFTX51JYJhttp://www.amazon.com/dp/B003WFIMDW/ref=as_li_tf_til?tag=wwwangelmanto-20&camp=0&creative=0&linkCode=as1&creativeASIN=B003WFIMDW&adid=1EY2WHZ5RYBMS8T6KJF3http://www.amazon.com/gp/product/B0045H29JO/ref=as_li_tf_tl?ie=UTF8&camp=211189&creative=373489&creativeASIN=B0045H29JO&link_code=as3&tag=wwwangelmanto-20http://www.amazon.com/gp/product/B004INDQWY/ref=as_li_tf_tl?ie=UTF8&camp=211189&creative=373489&creativeASIN=B004INDQWY&link_code=as3&tag=wwwangelmanto-20http://www.amazon.com/gp/product/B004JZJJ4U/ref=as_li_tf_tl?ie=UTF8&camp=211189&creative=373489&creativeASIN=B004JZJJ4U&link_code=as3&tag=wwwangelmanto-20http://www.amazon.com/gp/product/B009W8YQ6K/ref=as_li_tf_tl?ie=UTF8&camp=211189&creative=373489&creativeASIN=B009W8YQ6K&link_code=as3&tag=wwwangelmanto-20http://www.angelmantoday.com/category/contests/


19/42

Oh no, this cant

be happening!was the thought than ran through

our minds when our triplets were

toddlers and going through a phase

of taking off their sleepers and

diapers. With another daughter

only twenty-two months older, adog, and a busy household, we did

not want to be spending our days

changing sheets and cleaning

messes! Instead, we tried to find a

solution to keeping our children

clothed at naptime and throughout

the night. We found no solutions

that we thought were safe and

practical and that was how the idea

of the Little Keeper Sleepers was

born.

Some parents refer to the Little

Keeper Sleepers as sanity

savers, life savers and the

reason they can sleep again.

We just know they help people,

and were happy to be a part of

that.

After many design changes, we

finally concluded that we needed

the features of a non-stretchableneck and two snap closure

systems; one that covers the zipper

and one that completely prevents

the zipper from being pulled down

by the child. This makes removal

extremely difficult for children,

yet easy for caregivers to get on

and off. We chose a 100% soft

interlock cotton that would be

comfortable, and a neutral color

that could be worn by both boysand girls.

As we started selling on-line,

customers started asking us for

larger sizes. They would tell us

their stories about how their

children with Autism, Angelman

Syndrome, Aspergers and other

special needs also did the behavior

of brown parties, and lots of

other interesting ways of

describing it! We truly listen to ourcustomer feedback.

Parents were desperate for something

to keep their childs sleepers on at

night. We discovered that these

sleepers were incredibly helpful to

parents who have children with

special needs. As a result, we have

expanded from the single version of

the Little Keeper Sleeper with long

sleeve/long pants to now include

sleepers with short sleeves, sleepers

with footies, three different color

choices and sizes up to 11/12, which

will fit a child over five feet tall! Our

business not only has expanded with

the sleepers, but we also created a bibthat toddlers cannot take off using the

same concept as the sleepers. The Zip

Bibs feature a cute bear, are unisex

and are primarily for babies &

toddlers.

Although we only sell the sleepers &

bibs via our website at this time, they

have been shipped to almost every

continent (come on, Antarctica!) Sleep

consultants as well as hospitals havecontacted us to use these with their

patients. We have been involved in

blog giveaways and fundraisers,

including the FAST Gala for

Angelman Syndrome.

What we love the most is hearing from

many of our customers after they have

had the sleepers for a

while. Comments such as, Its the

ONLY sleeper my grandson cannotget out of. THANK YOU for making

our lives a little easier!!, What a

wonderful blessing your sleepers have

been. They are soft & comfortable,

and my daughter keeps them on all

night, and we are all getting a good

nights rest. The reduction in the

amount of laundry has been a nice

bonus, too!

To Save 5% on your order,enter code: LKSATwww.littlekeepersleeper.com
http://www.littlekeepersleeper.com/http://www.littlekeepersleeper.com/


20/42

Products We Like
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21/42

Recipe:

- cup grated apple - I use the cheese grater

- Mix with one egg and one tsp of hazelnut flour

- Make two small cakes and fry in coconut oil for about 5minutes

- Prepare whipped cream with a drop of stevia

- Layer the cream between the apple cakes and decorated

with a 1tbs of blueberries & Enjoy!

LGIT Apple SurpriseSweet Treat for the Holiday Season

By Sybille Kraft Bellamy


22/42

THANK YOU FOR YOUR SUPPORT

Our Incredible Supporters

The time, energy and immense support that hundreds of individuals have committed to the Angelman syndromecommunity through the Angelman Syndrome Foundation reached impeccable heights during this past year.

Fundraising and awareness-raising efforts introduced the Angelman syndrome community to thousands of new

supporters thanks to the dedication and efforts of volunteers, donors and AS families across the country. The

Angelman Syndrome Foundation is deeply grateful for the efforts of each and every volunteer, donor and supporter,

and would like to publicly recognize and thank a few very special individuals for their tremendous investment of

time and support.

All Walkers, Volunteers and Supporters, ASF National Walk

The 11,700 individuals who attended the 2013 National Walk and raised more than $1 million made the Angelman

Syndrome Foundations recent $1.25 million investment in Angelman syndrome research possible. Those participating

in the 29 National Walk sites across the country worked tirelessly to fundraise in their communities, and it is making a

true impact within the Angelman syndrome community. THANK YOU to everyone who participated and made the

2013 National Walk a tremendous success!

Danny Fisher,Kick for a Cure

The 2013 football season brought a whole new level of meaning to the Bloomsburg University

Huskies and the Angelman syndrome community. Inspired by family friend Brianna Rehm, who

has Angelman syndrome, Danny Fishera record-breaking kicker for the Huskieslaunched

the Kick for a Curecampaign where he encouraged his fans and community to support theAngelman Syndrome Foundation. Supporters were asked to use Dannys jersey number 97 as

inspiration to make a one-time $97 donation, or $9.70 for each field goal kicked this season.

To date, Danny has raised more than $3,500far exceeding his original fundraising goalin

support of Angelman syndrome research.

The Olsens, Tractor Cruise and Sports Camps

For the past nine years, the Olsen FamilyKeith, Denise and their

childrenhas hosted an annual Tractor Cruise fundraiser in support of

individuals with Angelman syndrome. The 2013 Tractor Cruise was their

most successful yet! More than 50 tractors attended with one supportertraveling more than 160 miles (one way!) to participate. The tractors

proceeded along the cruise route, raising awareness about Angelman

syndrome throughout the entire Horton, Kansas community, and then

ended at the Olsens for a good ol fashioned party. The Olsens also hosted

summer sports camps to raise additional funds, resulting in a grand total of

more than $6,000 from supporters!

www.Angelman.org (800) 432-6435 Intl (630) 978-4245 [email protected]
http://www.angelman.org/mailto:info%40angelman.org?subject=infomailto:info%40angelman.org?subject=infohttp://www.angelman.org/


23/42

THIS YEAR!

The Rossettis and Granatas, Windy City ThunderboltsSue and Jeff Rossetti and Dawn and Rich Granata and their families hosted a minor league

baseball game in Tinley Park, Illinois featuring tailgating, raffles and fun activities for folks of

all ages in July 2013. A high-energy and creative event, it raised nearly $6,000 for Angelman

syndrome research and brought in even more grassroots support for the Angelman

syndrome community!

Mary Wagstaff and Susan Ravellette, Get Frenchy with Gail Simmons

Mary Wagstaff, an ASF Board member and sister to the late Dr. Joseph Wagstaff, one of the Angelman syndrome

communitys most revered clinicians and researchers, hosted a fundraising event

in partnership with ASF Board member Susan Ravellette in Los Angeles to raise

funds for the Angelman Syndrome Foundations Joseph E. Wagstaff Postdoctoral

Fellowship. The Fellowship awards funds to a young, budding researcher who

is pursuing Angelman syndrome research as a career. Celebrity chefs and large

donors from the greater Los Angeles area attended the event, which featured

French-themed cuisine and decor. The event was a tremendous success, raising

more than $28,000, and helps support continued funding for the Wagstaff

Fellowship and future Angelman syndrome research.

Sarah Delmotte, 5K for a CureIn September, Angelman Syndrome Foundation supporterand sister to an

individual with Angelman syndromeSarah Delmotte hosted a 5k in Newark,

Delaware to raise funds and awareness for Angelman syndrome. The 5k raised

$1,500 in donations for the Angelman Syndrome Foundation and raised awareness

throughout the greater Newark area. We are incredible grateful for Sarahs tenacity,

enthusiasm and efforts in organizing this event!

Penny Jusko, Madonna Jam

Penny Juskos daughter, Madonna, is diagnosed with Angelman syndrome and this is the second year that Penny

has hosted the Madonna Jambenefit concert in Cincinnati, Ohio. Featuring performers covering a range of genres,the concert was attended by hundreds of supporters from the greater Cincinnati area, raising more than $2,750

in support of individuals with Angelman syndrome and Fragile X Syndrome. Many thanks to Penny and everyone

involved with Madonna Jamfor advancing the Angelman syndrome community through your efforts!

Angelique Tuthill, Elks Lodge Fundraiser

Angelique Tuthill, whose son has Angelman syndrome, hosted an event in Middletown,

NY at Elks Lodge #1097. She and supporters from the Elks Lodge raised more than $4,500

in support of individuals with Angelman syndrome, and greatly expanded awareness of

Angelman syndrome in the Middletown community!

RandallMichelsonPhotography
http://pinterest.com/angelmansyndfdn/http://www.twitter.com/Angelmanhttp://www.facebook.com/AngelmanSyndromeFoundation


24/42

Its not just about getting through

and surviving the holidays, we allwant to truly enjoy our time with

family and friends. How do we

balance all that we think we need

or want to do and still enjoy the

holidays? We hope these holiday

tips will help to keep you a little

more relaxed and less stressed

this holiday season.

Have a plan and set realistic

expectations.

Decide what is important to you

and your immediate family. The

Hallmark holiday we see on TV

in reality most likely does not exist.

Be selective and choose those

invitations that are most important

and special to you and your family.

Perhaps celebrating the actual

holiday with just your immediate

family is just the ticket to keep thespecial holiday more manageable

and less stressful and other family

and friend events can be attended

outside of the immediate holiday.

Try keeping the guest list to a

manageable minimum so the day

doesnt become overwhelming for

everyone. Try a few small

gatherings on different days rather

than one large, overwhelminggathering.

You know your childs stressors,

triggers and anxiety points, so

remember to be a good observer

and head things off before they

get to the point of no return.

Dont be reluctant to be the last

ones to show up (just call ahead if

you are running really late) and it isfine to be the first ones to say

thanks for the eggnog and

goodbye if that will help makeyour visit more enjoyable.

Watch for subtle, escalating,

non-verbal cues your child is

communicating to you and others

that s/he is becoming anxious

and/or overwhelmed. Intervene

with a break or calm, quiet

private relaxation time and ask

your individual when s/he is

ready to join the gathering again

and honor her/his request.

Dont forget your routine.

Our children typically do best

with structure and routine.

Cookies and milk may well be a

part of the holiday season, but

eating well, getting enough rest

and sticking to routines will help

everyone in your family enjoy

the holidays. Dont let theseroutines get away from you

completely, as they will be

harder to re-establish once the

holiday season is done.

Its OK to take a break.

If you are hosting people at your

home and your child is feeling

overwhelmed or is in need of

some time alone make sure s/hehas a safe place for some quiet,

down time. When you are

visiting friends and family, talk

with the hosts and identify a

quiet space where your child and

you can escape when s/he is

feeling overwhelmed or in need

of some quiet or alone time. Also

be sure to ask about any house

rules (like no food in thebedrooms) that will make the

visit less stressful for all.

Clothes don't make the child.

If your child is sensitive to

certain types of clothes, or just

stubbornly insists on wearing

something you (or, you suspect,

someone else) will find

inappropriate, don't pick a battle

with all of the other potential

stressors during the holiday

season. While eyebrows may

raise if your child isnt dressed to

the nines, the goal is to start your

child out with as low a stress

level as possible. Fussing over

clothes, or putting her or him in

clothes that you know will cause

anxiety, is a tough way to start.

Augment the menu.

Whether you're bringing a little

something to someone else'sgathering or planning the

gathering in your own home,

make sure there are a variety of

items your child will enjoy

eating, especially if your child is

on a special diet such as the

L.G.I.T. The goal of the day isn't

cleaning your plate or trying new

foods or pleasing the cook. It's

making sure your child is well-nourished, sticking to her/his

diet and, more importantly, it's

about giving thanks for the good

things in our lives.

Tips for Managing oliday StressBy Eileen Braun, Executive Director of the Angelman SyndromeFoundation and mother to a young lady with Angelman syndrome


25/42

Remain calm.

Memorize this phrase, and repeat it

over and over in your head

whenever you feel yourself losing

your cool:I do not have to

apologize for being a good parent to

my child.We may struggle under

the weight of "advice" or

disapproval from family members,but our kids don't care about that:

They need what they need. You

know best what your child needs,

and providing it is your most

important responsibility, no

arguments. Since most children with

special needs react poorly to stress

in their environment, particularly

stressed-out parents, staying relaxed

and low-key is one of the best things

you can do to keep your child'sbehavior in line. You can always

throw a tantrum when you get

home.

No martyrs here.

Dontbe afraid to ask for help or

ask for a breakeven if it is for 15

minutes or a couple of hours. Ask a

friend or relative who understands

and is familiar with your child to

keep an eye out and engage her or

him regularly. If you can line up a

few people to take turns, nobody

will miss too much socializing time.

Its not about things being perfect it

is about time well-spent with those

we care about and love.

Give plenty of praise.

If your child is doing a great job

handling party stress, give her or

him lots of positive reinforcement.

Compliments, high-fives and hugsgo a long way toward keeping good

behavior coming. A happy child

makes for a happy party, and that's a

pretty good goal.

What to do about gifts.

If you are like many families, you

have a house full of toys from

relatives that your child has no

interest in playing. So how do we

get our families to purchase gifts ourchildren are sure to enjoy? Point

your family in the right direction by

creating a list of items and email it to

your relatives along with the link to the

store and the product number. Make it

as easy as possible to purchase the

item. Look at toy catalogs from the

perspective of your childs strengths

and challenges. What toys seem

visually stimulating? What toys have ahands-on tactile look to them? What

games promote word recall? What

games include player interaction? What

games help foster conversation?

As our children get older, the challenge

is that the things that once interested

them no longer doand that is a good

thing because they are growing and

maturing and developing new skills

and interests! Remember, too, that it is

not the quantity or equality of the gifts,

but finding those gifts that are most

meaningful to our children with

Angelman syndrome. Perhaps a special

holiday pillow, comfy blanket, special

cuddly sweatshirt or item that your

individual can identify with will have

particular significance and meaning for

her and will quickly become a favorite,

treasured gift that reminds her of this

special holiday!

Gift Giving Time.

Any one or more of these scenariosmay describe your child with

Angelman syndrome. Here are a few

helpful hints if:

~Your chil d is unable to open presents

Relatives love the excitement of seeing

the youngsters open their presents but

your child is unable to do so. Earlier in

the day, before the melee of gift giving

starts, you might ask each relative to

spend time with your child and openthe present for him.

This will be more meaningful for

both your child and relative.

~Your chil d is uni nterested in

opening presents

Even if you open the presents for

your child, he doesnt acknowledge

that they are there. What do you do?

Open the presents at home. Yourfamily might be disappointed but

tell them that he is so interested in

everything else that he just cant

focus on the presents. Tell them that

he will enjoy opening and playing

with his gifts in the quiet of his

home.

~Your chil d is in terested in

unwrapping presents but not the

gift

For your child its all about ripping

the wrapping paper. He doesnt

even pay attention to the toy. Take

note of who gave which present.

On a later day when your child

plays with his toy, take a picture to

send to the relative to say thanks.

Another suggestion is to ask some

relatives ahead of time if your child

can help open their presents. Your

child can look forward to Grandma

inviting him to open the presents forher.

~Your chi ld focuses on one present

Your child has a mound of presents

but stops after opening the second

present. Let him open his presents

at his own speed. You might end up

taking half of the gifts home with

the wrapping still on them and

thats okay. Let him open the rest

the next day.

~Your chil d is overwhelmed at

everyone opening presents

Your child may be overwhelmed by

the chaos of everyone talking at

once and tearing the wrapping

paper off their presents. If this

sounds like your child, its okay to

go to another room and watch a

holiday TV show while the rest of

the family opens presents. Anothersuggestion is, earlier in the day have


26/42

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

Sharing the PSA with your networksand asking

your friends, family, neighbors and colleagues to

share the message with their networksis essential

to this campaign! With your help in spreading the

word, we can ensure a more timely diagnosis for our

loved ones with Angelman syndrome. You can share

the PSA from the ASFs Facebookpage or website.

Your Support Makes OurWork PossibleIt is because of your support that the AngelmanSyndrome Foundation is able to invest millions in

promising research, and provide essential support

services for individuals with Angelman syndrome andtheir families. The end of the year is the perfect time to

show your support and invest in Angelman syndrome

research and family support services by making atax-deductible donation to the Angelman Syndrome

Foundation. THANK YOU for your ongoing support ofthe Angelman syndrome community and stay tuned for

more information about how you can support Angelmansyndrome families and research.

Calendar of AngelsThe 2014 Calendar of Angels will soon be available forpurchase! Share the spirit of love this season by giving

your friends, family and loved ones the Calendar of Angels

as a gift. The calendar features individuals with Angelmansyndrome and proceeds from calendar purchases directly

benefit the Angelman Syndrome Foundation.

Order yours today!

Combatting MisdiagnosisDue to the Angelman syndrome communitys support

and that of several media partners, the AngelmanSyndrome Foundation launched a public service

campaign aimed at reducing the rate of misdiagnosis of

individuals with Angelman syndrome. Nearly 50 percentof individuals with Angelman syndrome were originally

misdiagnosed with an incorrect disorder prior to

obtaining the proper diagnosis of Angelman syndrome.

This is unacceptable, so the Angelman SyndromeFoundation created a campaign to raise awareness

of Angelman syndrome and its symptoms among

the general population, specifically parents, through

development of 30-secondand 60-secondpublic serviceannouncements (PSA). Thanks to the support of TimeWarner Cable and numerous independent television

stations across the country, the PSA is airing nationally

and in large media markets that span the country.

The Angelman Syndrome Foundation is incredibly

appreciative of the families who participated in themaking of the PSA and of the Angelman syndrome

community for supporting the PSA.
http://www.angelman.org/mailto:info%40angelman.org?subject=infohttps://www.facebook.com/AngelmanSyndromeFoundationhttp://www.angelman.org/understanding-as/diagnosis/http://www.angelman.org/understanding-as/diagnosis/http://www.angelman.org/http://www.youtube.com/watch?v=gvXT3wOHdj0http://www.youtube.com/watch?v=Q8eaYdF6x3Ahttp://pinterest.com/angelmansyndfdn/http://www.twitter.com/Angelmanhttp://www.facebook.com/AngelmanSyndromeFoundationhttp://www.youtube.com/watch?v=Q8eaYdF6x3Ahttp://www.youtube.com/watch?v=gvXT3wOHdj0http://www.angelman.org/http://www.angelman.org/understanding-as/diagnosis/https://www.facebook.com/AngelmanSyndromeFoundationmailto:info%40angelman.org?subject=infohttp://www.angelman.org/


27/42

Tips for Managing Holiday Stress

continued

your child, at her leisure, present

each relative with a gift. Your

relative may also decide to give

her present to your child at this

time. Now your child can giveand receive a gift in a relaxed

atmosphere. In a half hour, go to

another relative and do the same.

Special Tips for

Travelling Families

Medications and Medical

Records

Gather your childs medications

and a copy of his or her medical

records. Make sure you have

enough refills for the length of

trip and a few days extra in case

of inclement weather.

Medical Equipment

If you are traveling with medicalequipment such as a wheelchair

or oxygen make sureto visit the

TSAsweb pages on medical

devicesand Assistive Devices

and Mobility Aids. These pages

will be very helpful in guiding

you through security at your

local airport. Call your departing

and arriving airport to find outwhat guidelines they may have.

Upon arrival some of your

checked medical equipment may

be offloaded at a special baggage

claim.

You may also need to contact

your airline (by phone or web) to

find out how they handle medical

devices that are carried on board

or checked in.

In Case of Emergency

In case of emergency make sure

you find a doctor at your

destination that will be able to

provide temporary care. Ask your

pediatrician for a referral Safety

Wandering Individual

If your child is a wanderer,consider a temporary tattoo

http://www.tattooswithapurpose.c

om/or purchasing a child tracking

device before you travel:

http://www.lok8u.com/. In case

your child becomes lost, it is

helpful to have a recent photo and

a written description of

your childs special needs (Willshe respond to her name? Will he

run away from strangers?).

Before You Head to the Airport:

Call the TSA

The TSA has a helpline for

individuals withspecial needs.

Call TSA Cares. Travelers may

call 1-855-787-2227 prior to

traveling with questions aboutscreening policies, procedures

and what to expect at the security

checkpoint. When a passenger

with a disability or medical

condition calls TSA Cares, a

representative will provide

assistance, either with

information about screening that

is relevant to the passengersspecific disability or medical

condition, or the passenger may

be referred to disability experts

at TSA. TSA recommends that

passengers call approximately

72 hours ahead of travel so that

TSA Cares has the opportunity

to coordinate checkpoint

support with a TSA CustomerService Manager located at the

airport when necessary.

Small Bills

Whether its the taxi, airport

shuttle driver or the skycap,

make sure to get all the help

you can. Bring plenty of small

bills to tip anyone who ishelping you out.

Check-In at Home

Dont wait in another line at th

airport! Print your boarding

pass at home or check-in via

your smart phone. Save

yourself the hassle!

Have a backup plan

Weather, mechanical issues,

missed connections or late

arriving flights can wreak

havoc on your carefully laid

plans. Make sure you make

plans for a one hour delay,

multiple hour delay or a

complete cancellation. Have a

social story ready that willvisually tell your child about

the delay and what may happen

next.

Take a deep breath and smile

You have spent time planning

and preparing. The day is

finally here. Take a deep breath

smile and enjoy this specialtime with your family!
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Tel.: 670 90 90 07

[email protected]

www.angelman-asa.org

The Angelman Syndrome Association (ASA) is a

non-profit organisation founded in Barcelona in

October 1996, on the initiative of a group of

concerned parents with children affected with this

yndrome.

Our association is comprised of an approximate

number of 200 affected families dotted around the

country.

Our association was formed for the purpose of

enhancing communication among the families,

FAMILY MEETINGS

Every year we celebrate the family annual meeting to

be held in the different autonomous communities. In

2013, this meeting was held in Torrejn de Ardoz

Madrid). During these encounters, we organise

eisure and fun activiites for the children, as well as

professional conferences on education, medical, social

or legal issues.

This way awareness is raised by sharing opinions and

xperiences among parents and keeping in contact

with caregivers and medical professionals in the

Angelman Syndrome.

providing support, counselling and information, and

fostering research for a deeper knowledge at all levels

on the AS that will allow affected individuals to attain a

better quality of life. Mainly concentrated on the

purpose of supporting the families of affected

individuals, particularly those newly diagnosed, we

have a supporting family network around the country

who voluntarily provide support and advice to parents

who require guidance and information.

Moreover, we keep in contact with other international

Angelman Syndrome Associations, to foster theexchange and sharing of information, as well as

collaboration in all the different fields.

This year we have hosted

Dr. Weeber and also Dr. Mayor.


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Main events 2012 and 2013

MAIN ACTIVITIES

An intense activity has been carried out by ASA during the last year thanks to the great commitment

of its members. Different events have been organised with the aim of raising awareness and funds

for research. We have equally participated in a large number of events or activities organised by

other associations and institutions, where we helped setting the tables for the merchandise selling in

order to raise funds.

RAISED FUNDS ALLOCATION

The purpose of all our activities is raising awareness of the

Angelman Syndrome and raising funds for the actual

management of the association as well as to foster

research.

This way, the funds raised from the old mobile collection

are monthly sent to the FAST in order to finance Dr.

Edwin Weebers research. Part of the assets were

allocated to contribute to a clinical trial with minocycline

which is likely to be initiated soon in a spanish hospital.

ASA would collaborate with that hospital in case it

required a money contribution or with the member

families who would take part in the trial.

There are also a certain amount of funds being allocated

to a research that is being carried out in Spain by Dr. Ugo

Mayor in the CIC Biogune Center.

PROFESSIONAL CONGRESSES

In 2012 a university congress was organised

inValladolid on the Angelman Syndrome. We are

aiming to host another professional congress in

early 2014. This encounter seeks to advance the

awareness of Angelman Syndrome among those

professionals who take care of our children

(physiotherapists, speech therapists, psychomotorspecialists, special education teachers, etc.) to help

them with how to deal with the management of

children affected with this syndrome.

Our main fund raising campaigns:

1.- Old mobile phone collection for recycling them for trade.

That was a very successful initiative in which over 68,000 mobile

phones were collected in a years time.

2.- Handmade product selling produced by the mothers mem-

bers of the association, such as bracelets, necklaces, earrings and

other jewlery but also biscuits and different items.

3.- Awareness rubber wristband selling.

Moreover, a large number of other events have been carried out

during the last year (bazaars, sport events, charity events and

festivals, etc.), especially the Padel Tournament held in Februaryon the occasion of the International Angelman Syndrome Day,

where the raised funds were enterely donated to the FAST

(Foundation for Angelman Syndrome Therapeutics).


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Greetings Angleman

community and all

the readers of

Angelman Today. I

would like to thank

Liz Sordia for

stepping out and

showing leadership

by creating this

periodical to bring us

all closer and help us

find ways to meet

our challenges that

will maximize our

Angles potential and

the opportunity to

share with you the

experience of the

moment I and my

wife learned that Max

had Angelman

syndrome.

I am a Dad of a 12yr old Angel

named Maxent. Max has two

brothers, Charle, age thirteen and

Tristan, age eight.

It is a day I am sure all parents andfamilies remember like yesterday,

a mark of a journey that is

remarkable.

Maxent was born November 5,

2001. He was due the second week

of December but he decided he did

not want to wait that long. Our

family was in the midst of quite a

bit of chaos as the events of

September 11 had just disruptedour lives. I work in the financial

markets and my office was 1 block

from the World Trade Center. I

was displaced from my job as a

result of the horrible events of that

day.

Our family is very blessed that

this is all that occurred to us and

our prayers are with the many

friends and associates and victims

we lost. May peace always be with

them and their loved ones.

My two partners and I were lucky

enough to find an opportunity but

it required us to relocate to Irvine

California.

In the meantime, my wife

Sybille and 16 month old son,

Charle moved to My Mothers

house in Delaware. We figured I

would get a feel if the company

was a good fit for the family and if

it was, we would move everyone

out after Sybille gave birth in

December.

Two weeks later Max made his

big debut! As a result of his

impatience (6 weeks premature)

Max needed additional care and

was rushed from the birthing room

to a neonatal unit (12miles away

accompanied by a policemotorcade). Eleven days later on

the way home from buying

groceries with my Mother driving,

Sybille and the boys were rear-

ended. Max had his second ride in

an ambulance to the ER and was

released with no apparent

injuries.

Meanwhile things in Irvine weregoing well and I was hunting for

an apartment to call home. Sybille

and the boys arrived the first week

of December. Five days later Max

was in the ER diagnosed with

pneumonia and needed to be

admitted as he required oxygen to

keep his saturation level normal.

Maxspneumonia slowly cleared

up but his saturation levelremained low requiring him to

remain on oxygen.

He was tested for a plethora of

diseases and conditions but

nothing appeared. A lung x-ray

revealed his right lung was

partially collapsed. His hospital

stay lasted approximately 3

weeks. He returned home wherehe required 24hr oxygen until his

saturation level returned to normal


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The Israeli Angelman Syndrome Foundation was established in

2012 with the aim of consolidating the efforts carried out in Israel

to improve the lives of people with AS by promoting early

diagnosis, research, treatment and training. The foundation is

designed to provide services to all Israeli children with AS and

their families

We seek to advance the awareness, understanding and treatment

of AS, with the ultimate goal of finding a cure. We offer

consultancy and mental support for AS families. We hold socialgatherings for AS families in holidays and weekends with the hope

of giving these families support and hope. To this end, we feel it is

important to cooperate with AS organizations around the globe,

share databases and information and actively participate in

research and trials

The Israeli AS clinic operates within the Pediatric Neurology

institute of the Sheba Medical Center in the city of Tel-Aviv.Children with AS are treated by a dedicated team of physicians

including a psychiatrist and a nutritionist, led by a pediatric

neurologist. The clinic applies a multidisciplinary approach to

address the main clinical issues of AS, including seizure and

movement disorders, speech difficulties, sleep disorders,

hyperactivity and attention disorders, in addition to other

behavioral and Orthopedic concerns. The Sheba AS clinic aims to

conduct a dedicated research and clinical trials on AS and to

collaborate with AS centers worldwid

Over the last year we have held two scientific symposiums with

various presenters in the areas of neurology, speech therapy and

psychology, as well as lawyers specializing in social security

procedures.


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Happy Holidaysfromngelman Today


38/42

Angels in ActionCelebrating the Abilities of our Angels

(In French and English)

Franois a 24 ans et est UPD. nous avons eu le

diagnostic quand il avait 13 ans. Jusque l, ilavait vcu presque comme s'il n'tait pas

handicap malgr un cart de plus en plus grand

avec les autres enfants. . Il a march 25 mois

mais le langage n'est pas venu. Sinon, il tait

facile et s'intgrait dans les groupes sans poser

de problme. C'est pourquoi, j'ai tent beaucoup

d'apprentissages avec lui, d'autant plus qu'tant

professeur, je ne concevais pas que mon enfant

n'ait pas droit lducation.

Il a eu un trotteur avant de marcher puis un

tricycle deux ans. A deux ans et demi, il savait

pdaler. Chaque anne en vacances , je lui ai

apport un vlo, d'abord avec des petites roues,

puis un t, nous sommes partis avec deux

vlos. l'un avec des petites roues pour qu'il

puisse en faire librement dans le jardin, et un

sans petites roues pour commencer apprendre.

Et tous les jours, je lui faisais faire dix minutes

de vlo sur la route autour du village. Je tenaisle guidon et la selle pour qu'il ne tombe pas et je

courais en mme temps quil avanait! J'ai bien

transpir! Mais au bout de deux semaines, j'ai

commenc le lcher et il s'est mis en faire

tout seul. C'tait gagn.

Franois is 24 years old and UPD. We got the

diagnosis when he was 13 years old. We treatedhim as if he wasnthandicapped despite of the

increasingly great differences with other

Tous les ts, avec son oncle et moi-mme, nous

l'avons emmen faire des petites promenades, deplus en plus longues. En hiver, je lamenais

presque tous les dimanche matins faire du vlo au

bois de Vincennes prs de chez nous. Parfois, il ne

refusait davancer ou il s'arrtait brusquement et

celui qui tait derrire manquait de tomber ou il

prenait tout coup un chemin ou il faisait demi-

tour brusquement.

Bref! L'apprentissage fut long. On lui a appris

freiner, sarrter au stop, rester bien droite(c'est cella plus dur encore mais il y arrive de

mieux en mieux). Maintenant, il adore faire du

VTT mais aime aussi faire de la route, restant bien

sur le ct quand une voiture arrive. Bien sr, on

est vigilant et on l'avertit l'avance des

croisements, des arrts, des voitures qui arrivent.

Il peut faire des promenades de plusieurs heures

sans fatigue. Au dbut, il jouait avec le drailleur

et on lavait bloqu. Depuis 2 ans, il ne le fait

plus. On lui rgle le drailleur pour quil ne puissepas aller trop vite quand mme.

Moi, jai du mal suivre mais heureusement, son

oncle peut encore mais bientt llve va dpasser

ses matres

children. He walked alone at 25 months but the

language did not come.Otherwise, he was calm and became integrated

easily into groups without causing behaviour


39/42

problems.

I worked hard to educate him, especially

because I was a teacher, I could not imagine

that my child would not be educated. He had a

trotter before walking then a

tricycle when he was 2. When he was 2 and a

half, he was able to used pedals.

Each year on holidays, I gave him a bicycle,

first with training wheels and later we went to

two wheels. He had one bike with training

wheels so he can freely ride in the garden, and

one without training wheels to start learning.

And everyday, I made him practice ten minutes

on the road around the village. I held the

handlebars and saddle it so it did not fall and I

ran! I was soaked in sweat! But after twoweeks I stopped, little by little, holding the

bicycle and he got to do it alone. The bet was

won betweem his uncle and I. Each summer

holiday, we go for rides, more and more.

In winter, with me, he bikes on Bois de

Vincennes near our home. Sometimes he does not

want to continue or he will stop suddenly and

turn to see if anyone was behind him.

In short, learning was long. He was taught

braking, stopping remaining on the right side of

the road (it is the hardest but he gets better andbetter ).

Now, he loves all terrain bikes but also, he enjoys

the road, remaining on the correct side of the road

when a car arrives . Although, we are vigilant and

warn him in advance of the crossings, stops signs

and when cars arrive. He can ride several hours

without fatigue. In the beginning, he played with

the derailing and we had to block it. Now, for 2

years, he does not play with it any longer. Wesettle (adjust) the derailing so that he cannot go

too fast. I have difficulty in following him now

but fortunately, his uncle still can but soon the

pupil is going to exceed (overtake) his teachers!

Clinical Trial Begins on a New Treatment Using

Cannabis for Intractable Seizures in Children

CANNABIDIOL (CBD), the non-

psychoactive compound of cannabis

For more info about this study go to:

http://www.gwpharm.com/Phase1Epilepsy.aspx

There is a study underway to test the safety and

efficacy of Cannabidiol (CBD), the non-

psychoactive compound of cannabis. Some of the

experts involved are the Angelman communities

very own specialists Dr. Elizabeth A. Thiele and Dr.

Ronald Thibert of Massachusetts General Hospital.

Both Physicians are members of the Scientific

Advisory Committee of the Angelman Syndrome

Foundation.

The study will provide a better understanding of the

maximally tolerated dose and potential side effects

of CBD as well as display its efficacy in two well-

defined childhood epilepsy syndromes, Dravet and

Lennox-Gastaut, which are very difficult to control

even with medication.

Angelman Today will be following this study closely

and will keep you informed.
http://www.gwpharm.com/Phase1Epilepsy.aspxhttp://www.gwpharm.com/Phase1Epilepsy.aspxhttp://www.gwpharm.com/Phase1Epilepsy.aspx


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The Foundation for Angelman

Syndrome Therapeutics

Presents the 2013 FAST Global

Summit on Angelman Syndrome

A Weekend-Long Event Including an

Educational Seminar, Scientific

Symposium, Fundraising Gala and more

FAST Global Summit on Angelman Syndrome

The Foundation for Angelman Syndrome Therapeutics ("FAST") is pleased to announce that the 2nd Annual

Global Summit on Angelman Syndrome will take place on Friday and Saturday, December 6-7, 2013 at

the Hyatt Regency Chicago. You will not want to miss this year's excitement as we have more free

seminars, more guest speakers and even more celebrity attendees!

The Annual FAST Gala will take place Friday evening, 6:00 PM to Midnight, in the Regency Ballroom of the

Hyatt Regency Chicago. Guest speakers this year include Dr. Edwin Weeber and Dr. Rebecca Burdine. Guest

of Honor is Golden Globe winning actor and fellow parent,Colin Farrell. Additional celebrity attendees will

be announced in the coming months! Entertainment will be provided by 7th Heaven Band. Additional

entertainment will be announced in the coming months.

There will be two seminars on Saturday afternoon, December 7th, 2013, one on challenging behaviors in

Angelman Syndrome and one on sleep strategies for children with Angelman Syndrome. Dr. Chris Oliver,

world expert on challenging behaviors in Angelman Syndrome, will host the seminar on behaviors and Dr.

Keith Allen, Professor of Psychology and Pediatrics, will host the sleep seminar, both will have a parent

Q&A session immediately following. To view videos of the Educational Seminar and Scientific Round Table

hosted at the 2012 FAST Global Summit on Angelman Syndrome, please visit the FAST YouTubepage.

A Scientific Round Table panel will be held on Saturday, December 7th, 2013. Speakers include renowned

Angelman Syndrome experts, Dr. Edwin Weeber, Dr. Scott Dindotand Dr. David Segal. Additional speakers

will be announced in the coming months. The Scientific Round Table discussion will be the most

comprehensive and up-to-date overview of the current landscape of Angelman research. Immediately

following the informative discussion, the scientists will answer any questions from audience members in a

Q&A session.

Important facts to know about the 2013 FAST Global Summit on Angelman Syndrome:

Date:

Friday - Saturday, December 6-7, 2013

Location:

Hyatt Regency Chicago, 151 E Wacker Dr, Chicago, IL 60601

Events:

Friday night - Annual FAST Gala

Saturday afternoon - 2 educational, Angelman-specific seminarsSaturday afternoon - Scientific Round Table
http://chicagoregency.hyatt.com/en/hotel/home.html?k_clickid=kw47013&agn_smg_hr_ppc_google_ss_keywordtype=brand_propertyspecific_chirc_hyattregencychicago&mckv=sGalLIEUA|pcrid|11995869807|mtid|3944cfd18966|http://www.imdb.com/name/nm0268199/http://www.birmingham.ac.uk/staff/profiles/psychology/oliver-chris.aspxhttp://www.unmc.edu/mmi/keithallenphd.htmhttp://www.unmc.edu/mmi/keithallenphd.htmhttp://www.youtube.com/user/cureangelman/videoshttp://weeberlab.com/as.htmlhttp://medicine.tamhsc.edu/basic-sciences/mcm/faculty/joint/scott-dindot.htmlhttp://www.genomecenter.ucdavis.edu/segallabhttp://www.genomecenter.ucdavis.edu/segallabhttp://medicine.tamhsc.edu/basic-sciences/mcm/faculty/joint/scott-dindot.htmlhttp://medicine.tamhsc.edu/basic-sciences/mcm/faculty/joint/scott-dindot.htmlhttp://weeberlab.com/as.htmlhttp://www.youtube.com/user/cureangelman/videoshttp://www.unmc.edu/mmi/keithallenphd.htmhttp://www.unmc.edu/mmi/keithallenphd.htmhttp://www.birmingham.ac.uk/staff/profiles/psychology/oliver-chris.aspxhttp://www.imdb.com/name/nm0268199/http://www.imdb.com/name/nm0268199/http://www.imdb.com/name/nm0268199/http://chicagoregency.hyatt.com/en/hotel/home.html?k_clickid=kw47013&agn_smg_hr_ppc_google_ss_keywordtype=brand_propertyspecific_chirc_hyattregencychicago&mckv=sGalLIEUA|pcrid|11995869807|mtid|3944cfd18966|


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Sponsorship:

To purchase corporate sponsorship, please click here.

Program Advertisement:

To purchase program advertisement, please click here.

Program Announcement:

To purchase an announcement for family or a friend, please click here.

Silent Auction Donation:

To download the silent auction donation form, please click here.

Costs:

Admission to all seminars will be free to the Angelman community.

Tickets to the Gala are $150.00 per person. Tables of ten (10) and twelve (12) are available for

purchase. FAST is releasing a limited supply of tickets at this time. You may purchase tickets by

clicking here.

The FAST room rate at the Hyatt Regency Chicago is $109.00 per night plus tax. This rate is

available from 12/03/2013 to 12/09/2013. This rate is only valid if you book before November15, 2013. You may book your room by clicking h

Angelman Today Nov-Dec 2013.pdf

Documents

Transcript of Angelman Today Nov-Dec 2013.pdf