Angelman Today July-Aug Edition

7/28/2019 Angelman Today July-Aug Edition

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Letter

From

The Editor

The Motivation

It all began with a thought; a series of events like International Angelman Day and meeting other passionate parents. Afterreceiving my sons diagnosis, I immediately developed this strong desire to learn as much as I could about his genetic

condition. Since there is currently no treatment available, I asked myself; what can I do to help my son today?

As I learned of the advancements in research and the wonderful work that the foundations do across the globe, I was filledwith gratitude and hope. But, my time is limited, as yours is, I wondered how I could stay current with this information?Inspired by IAD, I sat down to write a blog post on www.MeetTheFamaliesofAS.blogspot.com and the words never came.Instead, ideas of a simple resource that can give us information in the quickest way possible, directly in the palm of ourhands. An online magazine! As I talked with Angel Moms, they thought it was perfect and had the same idea! It felt asthough our conversations on how we are helping our kids was leading up to this.My name is Lizzie Sordia and my son Nathan was diagnosed with Angelman Syndrome shortly after his second birthday.Our story starts out very similar to many of yours. It was July to be exact. Its funny how I find myself in this position just 3years after his diagnosis. But I guess this is what happens when you light the fire of a Mother Lion! Dont tell me what myson cant do, he will show you what he can do! In our journey with Nathan, the hardest times were before we received hisdiagnosis. I knew immediately after birth something wasnt right. He was transported to the NICU (Neonatal Intensive Care

Unit) within 24 hours of being born. After seizures started we practically lived in the hospital. He was so sick and haduncontrollable seizures that almost took him from us. Doctors and specialist didnt know what was wrong. Fragile X testsand others were inconclusive. We faced our darkest time alone with the unknown. I did not yet know of this wonderful andhelpful community that was waiting for me.Having a sick child and unanswered questions was the most helpless feeling for me and my family and I dont want anyoneto feel the way we did, no matter where they are on this planet. It is my personal goal to reach them and provide them withcomfort or information, which ever they are looking for.

Nathan almost received a diagnosis of Autism, thats what they were whispering around the hospital, but no one wanted toofficially diagnose him. He had many of the same symptoms. Thanks to those whispers, it lead me to find the brightestpeople who knew how to help Nathan and make a difference in his life in a very short time. I can now say Nathan is healthy,he walks, has a few words, says Mama everyday (melts my heart), a few signs, sleeps through the night and is making

gains every day.Like most children with AS, Nathan (del+) did not start off sleeping very well, so since I was up, I put that time to good use.I researched and reached out to AS families and learned from their experiences. I am going to share my team of expertswith you as well as many others I have met along the way. The best news is that there are things we can do for our kidsTODAY! Many of you are doing them already.Now, more than any other time in history has it been easier to unite people on a global level. We are working on translatingthis magazine in every language so we can all communicate freely and quickly. I want to bring you the brightest minds in the

field of AS including researchers and practitioners who treat our children everyday. Doctors that practice functional medicineand Bio-Medical treatments. All of these efforts will equal real suggestions that we can apply and see what will work for ourindividual children TODAY! Having options is important because there is a lot more going on with many of our kids then justchromosome 15 and some doctors are missing it the way they missed the diagnosis or they blame AS for some symptomsWe will share with you experiences from families everywhere. There is nothing more powerful than an experience.Anyone who would like to share their story CAN and you (the reader) can take what you would like from it and use it to helpyou on your journey (or not).This is our life, our journey to learn and grow. Its going to be wonderful, terrible, filled with love, hugs and tears. We are in ittogether to help.

Sincerely,Lizzie SordiaEditor-in-Chief 2


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July2013 Premier Online Edition

Cover Credits:Kaylee Fingold,AS, UBE3APhotographed byWes Bonnefin Photography

www.bonnefinstudios.com

Angelsin

Action

Social

Security

Benefits

18 This article will giveyou a basic overview ofthe options that may beavailable for your familyand will provide you withthe information needed tobegin the Social Securityapplication process.

6 Understanding GeneticClasses of Angelman

Syndrome

Charles Williams, M.D. is aProfessor of Pediatrics andGenetics, Division ofGenetics and Metabolism,Department of Pediatrics,University of Florida.

WW.ANGELMANTODAY.COM JULY / AUGUST 2013 | Angelman Today

GF

27 Gluten FreeLivingNot just a fad diet, findout its many benefits forthose with AngelmanSyndrome. Find out someof the symptoms that gounnoticed.

15Angels in ActionInspiring stories fromfamilies celebrating theabilities of our childrenwith Angelman Syndromeendearing calledAngels.

In Every Issue

5 Contributors

AS Research9 Latest research by Ed Weeber

10 LGIT study by Dr. Thibert and Dr. Elizabeth ThieleLow Glycemic Index Treatment provesEffective at reducing seizures.

41 Minocycline update by FASTNewly Diagnosed Families

6 Understanding Genetic Classes

7 Welcome to Holland by Emily Perl Kingsley.

8 Words of WisdomQuotes from parents

15 Angels in Action - Krista

23 Angels in Action Shea

29 Angels in Action - Carter

Features

2 Letter from the EditorInspiration for creating Angelman Today.

4 Our Journey18 Social Security Benefits

32 RDI Therapy - Relationship DevelopmentIntervention

Angelman Syndrome Foundations

12 Angelman Syndrome Foundation, US

13 Angelman Networks, New Zealand

21 Angelman Syndrome Ireland

25 Casa Angelman, Argentina

41 Foundation for Angelman Syndrome Therapeutics

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Together, we are all on a journeyA journey that is the same and different

There is no right way or wrongWe span across the globe

There is so much we can learn from one another

We can share our experiences;of laughter, joy, failure and triumphTogether, our global community

will become connected like never beforeAnd we will make great progressImprove the lives of our families

And maybe just maybeTake part in the ultimate solution

In finding the cure!

~Lizzie SordiaEditor in Chief

Our Journey Begins Here

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Contributors

Karen

VanPuyenbroek

Associate Editor

Isabel

Orellana

Marc

Bissonnette

Sybille

Kraft

Bellamy

A Big Thank You to our contributors for helping

to make this magazine a reality!

Your talent, passion and love for our kids is whatAngelman Today is all about!

-Lizzie Sordia

Editorin - Chief

Angelman Today

Edwin Weeber, Ph.D.

Professor, Dept. ofMolecular Pharmacology and

Physiology

Chief Scientific Officer, USF Health

Byrd Alzheimer's Institute

Director, Neurobiology of Learning

and Memory Laboratory

University of South Florida Health's

Morsani College of Medicine

Charles A. Williams, M.D.

Professor of Pediatrics and

Genetics, Division of Genetics

and Metabolism, Department

of Pediatrics,

University of Florida

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Conducting blood testing to diagnoseAngelman syndrome (AS) can be acomplicated matter. Here I summarize thedifferent genetic causes of AS and providegeneral guidelines about how to use genetictests to confirm the diagnosis of AS. First, letus look at the genetic mechanisms that cause

AS:

A chromosome 15 pair is illustrated for each class depicted but the other chromosomes are not shown. The Pindicates the maternally-derived chromosome and the M indicates the maternally-derived one. The shadedchromosomes have a paternal pattern of gene functioning while the unshaded chromosomes have a maternalpattern. AS can be caused by either a large chromosome deletion (70% of the time); a disruptive mutations in theUBE3A gene inherited from the mother (indicated by the X); inheritance from the father of 2 normal number 15chromosomes (e.g., paternal uniparental disomy [UPD]); or an imprinting defect (ID), occurring when thechromosome 15 inherited from the mother has the paternal pattern of gene functioning because of a problem inthe imprinting center (denoted by the small open circle).

In addition to these mechanisms, a clinical diagnosis of AS may be given even though the genetic testing isnormal. The percentages indicate how common each mechanism occurs.

How do we use genetic testing and what is the sequence of testing? There are many pathways to diagnosis forfamilies undergoing testing for AS but the most common testing pathway is summarized here:

Understanding Genetic Classes of Angelman SyndromeDr. Charles Williams


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Welcome To Holland

Welcome To HollandbyEmily Perl Kingsley

1987 by Emily Perl Kingsley. All rights reserved. Reprinted with permission of the author.

I am often asked to describe the experience of raising a child with a disability - to try to help people who have notshared that unique experience to understand it, to imagine how it would feel. It's like this......

When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guidebooks and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You maylearn some handy phrases in Italian. It's all very exciting.

After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later,

the plane lands. The flight attendant comes in and says, "Welcome to Holland."

"Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I'vedreamed of going to Italy."

But there's been a change in the flight plan. They've landed in Holland and there you must stay.

The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine anddisease. It's just a different place.

So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a

whole new group of people you would never have met.

Its just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a whileand you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland hastulips. Holland even has Rembrandts.

But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful timethey had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I hadplanned."

And the pain of that will never, ever, ever, ever go away... because the loss of that dream is a very very significant

loss.

But... if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the veryspecial, the very lovely things ... about Holland.


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The words of advice I offer newly diagnosed families today starts out a little different than it did a few years ago. In the past I might havesuggested parents not jump into researching the syndrome and to ignore the majority of what has been written by "experts". Todaythere is a multitude of valuable information available and it is written by the true experts, the parents of the Angelman SyndromeCommunity. Do your research. Read all you can. Join the online support groups and ask questions. Find local families and meet theirfamilies. You are going to see a wide variety of personalities, abilities, opinions and you are going to feel right at home.Here are a few tried and true words of advice that I st ill share because they have stood the test of time.1. Never underestimate your child and do not base your expectations on the evaluations of others.2. Your child is your child and unless you are neglecting or endangering your child that does not change because of a diagnosis. Thereare many people out there who think they know best but a parent's instinct and the intimate knowledge they have of their child serves asthe best indicator of what is right and of what needs to be done.3. No matter what the numbers say your child is still one of a kind and always will be. A diagnosis is a way of helping you help your childbut it does not define your child or your family. Your child has a syndrome. The syndrome does not have your child.4. Be a family first. Try not to let a diagnosis consume you. 24/7 therapy is not healthy for anyone. Love and play are the best gifts youcan give your child and are the best stimulants for growth and development.5. Take care of yourself. Take care of your spouse and take care of your other children. It is easy to focus on your child wi th a diagnosisand not realize you have let other things go. We have all tried to be the strong one and prove we can do this but I assure you the earlieryou learn to allow others to help out the easier it will be.6. There will be good days and bad days. Your emotions will betray you when you least expect it. You will experience the highest andlowest of emotions and sometimes on the same day. You will sweat the small stuff and you will celebrate the small stuff. You havejoined a community that will be here for all of this and we will understand.Brenda Dixon, MississippiJonathan - 33yrs AS Del+

Neveraccept a doctor telling you that your child won't be able to...Never under estimate you child's potential--our kids love to learn. Alwayshave faith in your 'gut' inst incts...Momma (or Daddy) usually knows best.Look forward with faith in the advances and treatments that are on thehorizon, but, as you struggle (from time to time) in your daily life with anAngel (and there will be struggles), know that you are not alone--we areall in this together. Don't be afraid to ask questions. Support, tears,

cheers and hugs are just a phone call or Facebook post away. Take t imeeach day to recognize the blessings in your life. Enjoy your Angel hugs!!Carol Pulver, FloridaShea Pulver - 22yrs AS Del+

Don't allow anyone, even yourself, to see a diagnosis instead of a child. A child needs a parent more than a therapist or researcher.Yes, we need to wear several hats to be good parents - but from your child's point of view, he really needs Mommy and Daddy more

than Dr/Therapist/researcher/advocate - he only has ONE parent or set of parents. Sometimes we get so caught up in "helping" themthat we forget the main point, which is to be there physically and emotionally for them. From the start, concentrate on communication andfunctional skills. These things cannot wait until they're older. Typical children start learning those things immediately, and nobody says"oh, wait, I don't know how to communicate with you yet - I need to take a class" or "oh wait, you'll have to learn to potty train or pull yourpants up and down when you're 15 (and 6 feet tall)"... it's more natural to just hand-over-hand those motions from a very early age, andpresent communication pictures (or even the objects themselves to choose from) as a matter of course as you go about your day. (Thisis Dora, this is a book - which one would you like?)If it takes years to develop the actual skills, it's better to start at age 2 and have that skill when they're 12, then to start at age 12 to teachskills...when they've already got ingrained habits and learned helplessness from having everything done for them. Believe my achingback when I say teaching a child to crawl into his carseat early on will save a lot of wear and tear on your body. Kids with special needsget just as much joy and confidence from 'doing for themselves' as anyone. You never know until you try. Read "Disability is Natural" byKathie Snow. This is common sense advice for parents of special needs kids that they really need to hear.Lulu Carpenter, CaliforniaSimon - 23 yrs AS

Words

OfWisdom


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Interested in what research has been published about AS?Dr. Ed Weeber will tell us how we can search for information and some of the

latest research happening around the globe.

How can you get published scientific articles concerning Angelman syndrome research? By accessing the free data base

called PubMed (www.pubmed.gov). This valuable resource is developed and maintained by the National Center forBiotechnology Information (NCBI) at the National Library of Medicine (NLM) and contains more than 20 mil lion referencesto scientific articles. The search function allows single or multiple terms to narrow the number of hits. In addition, you cansearch for authors in order to find all of the publications from a specific researcher. Many of these publications are freeand all of them have an abstract to describe the research.A search for the term Angelman syndrome will reveal 1300 publications with the earliest dating back to 1950. To make

the science a little easier to digest, every issue wil l present a selection of the latest published scientific articles withAngelman syndrome in the title, abstract or key words section of the paper. Below are some recent papers that have comeout in the last few months.

Title: Recurrent fractures as a new skeletal problem in the course of Angelman syndrome.

Journal: BoneAuthors: Rusiska A, Dzwonek AB, Chlebna-Sok D.Department of Pediatric Propedeutics and Metabolic Bone Diseases, Medical University of Lodz, Poland; MariaKonopnicka Memorial Teaching Hospital No. 4, Medical University of Lodz, Poland.

Abstract:

Angelman syndrome is a genetically inherited syndrome with severe retardation of psychomotor development and speechdisturbances, usually accompanied by epilepsy, typical dysmorphic features, and some skeletal symptoms. The aim of thecurrent report is to present new skeletal symptoms which may occur in the course of AS, based on a case report of an 8-year-old girl with confirmed 15q11;12 microdeletion and recurrent low-trauma bone fractures. According to our knowledge itis the first report of such skeletal symptoms in patient with a diagnosis of AS.

Title: Role of the ubiquitin ligase E6AP/UBE3A in controlling levels of the synaptic protein Arc. Journal: Proc Natl Acad Sci U S AAuthors: Khnle S, Mothes B, Matentzoglu K, Scheffner M.Department of Biology and Konstanz Research School Chemical Biology, University of Konstanz, 78457 Konstanz,Germany.

Abstract:

Inactivation of the ubiquitin ligase E6 associated protein (E6AP) encoded by the UBE3A gene has been associated withdevelopment of the Angelman syndrome. Recently, it was reported that in mice, loss of E6AP expression results inincreased levels of the synaptic protein Arc and a concomitant impaired synaptic function, providing an explanation for

some phenotypic features of Angelman syndrome patients. Accordingly, E6AP has been shown to negatively regulateactivity-regulated cytoskeleton-associated protein (Arc) and it has been suggested that E6AP targets Arc for ubiquitinationand degradation. In our study, we provide evidence that Arc is not a direct substrate for E6AP and binds only weakly toE6AP, if at all. Furthermore, we show that down-regulation of E6AP expression stimulates estradiol-induced transcriptionof the Arc gene. Thus, we propose that Arc protein levels are controlled by E6AP at the transcriptional rather than at theposttranslational level.

Title: Proteomic profiling in Drosophila reveals potential Dube3a regulation of the actin cytoskeleton and neuronal

homeostasis.Journal: PLoS OneAuthors: Jensen L,Farook MF, Reiter LT.Department of Neurology, University of Tennessee Health Science Center, Memphis, Tennessee, United States ofAmerica.

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http://www.ncbi.nlm.nih.gov/pubmedhttp://www.ncbi.nlm.nih.gov/http://www.ncbi.nlm.nih.gov/http://www.nlm.nih.gov/http://www.ncbi.nlm.nih.gov/pubmed?term=Rusi%C5%84ska%20A[Author]&cauthor=true&cauthor_uid=23747006http://www.ncbi.nlm.nih.gov/pubmed?term=Dzwonek%20AB[Author]&cauthor=true&cauthor_uid=23747006http://www.ncbi.nlm.nih.gov/pubmed?term=Chlebna-Sok%C3%B3%C5%82%20D[Author]&cauthor=true&cauthor_uid=23747006http://www.ncbi.nlm.nih.gov/pubmed?term=Chlebna-Sok%C3%B3%C5%82%20D[Author]&cauthor=true&cauthor_uid=23747006http://www.ncbi.nlm.nih.gov/pubmed?term=K%C3%BChnle%20S[Author]&cauthor=true&cauthor_uid=23671107http://www.ncbi.nlm.nih.gov/pubmed?term=Mothes%20B[Author]&cauthor=true&cauthor_uid=23671107http://www.ncbi.nlm.nih.gov/pubmed?term=Matentzoglu%20K[Author]&cauthor=true&cauthor_uid=23671107http://www.ncbi.nlm.nih.gov/pubmed?term=Scheffner%20M[Author]&cauthor=true&cauthor_uid=23671107http://www.ncbi.nlm.nih.gov/pubmed?term=Jensen%20L[Author]&cauthor=true&cauthor_uid=23626758http://www.ncbi.nlm.nih.gov/pubmed?term=Farook%20MF[Author]&cauthor=true&cauthor_uid=23626758http://www.ncbi.nlm.nih.gov/pubmed?term=Farook%20MF[Author]&cauthor=true&cauthor_uid=23626758http://www.ncbi.nlm.nih.gov/pubmed?term=Reiter%20LT[Author]&cauthor=true&cauthor_uid=23626758http://www.ncbi.nlm.nih.gov/pubmed?term=Reiter%20LT[Author]&cauthor=true&cauthor_uid=23626758http://www.ncbi.nlm.nih.gov/pubmed?term=Farook%20MF[Author]&cauthor=true&cauthor_uid=23626758http://www.ncbi.nlm.nih.gov/pubmed?term=Jensen%20L[Author]&cauthor=true&cauthor_uid=23626758http://www.ncbi.nlm.nih.gov/pubmed?term=Scheffner%20M[Author]&cauthor=true&cauthor_uid=23671107http://www.ncbi.nlm.nih.gov/pubmed?term=Matentzoglu%20K[Author]&cauthor=true&cauthor_uid=23671107http://www.ncbi.nlm.nih.gov/pubmed?term=Mothes%20B[Author]&cauthor=true&cauthor_uid=23671107http://www.ncbi.nlm.nih.gov/pubmed?term=K%C3%BChnle%20S[Author]&cauthor=true&cauthor_uid=23671107http://www.ncbi.nlm.nih.gov/pubmed?term=Chlebna-Sok%C3%B3%C5%82%20D[Author]&cauthor=true&cauthor_uid=23747006http://www.ncbi.nlm.nih.gov/pubmed?term=Chlebna-Sok%C3%B3%C5%82%20D[Author]&cauthor=true&cauthor_uid=23747006http://www.ncbi.nlm.nih.gov/pubmed?term=Chlebna-Sok%C3%B3%C5%82%20D[Author]&cauthor=true&cauthor_uid=23747006http://www.ncbi.nlm.nih.gov/pubmed?term=Dzwonek%20AB[Author]&cauthor=true&cauthor_uid=23747006http://www.ncbi.nlm.nih.gov/pubmed?term=Rusi%C5%84ska%20A[Author]&cauthor=true&cauthor_uid=23747006http://www.nlm.nih.gov/http://www.ncbi.nlm.nih.gov/http://www.ncbi.nlm.nih.gov/http://www.ncbi.nlm.nih.gov/pubmed


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Abstract:

The molecular defects associated with Angelman syndrome (AS) and 15q duplication autism are directly correlated toexpression levels of the E3 ubiquitin ligase protein UBE3A. Here we used Drosophila melanogaster to screen for the targetsof this ubiquitin ligase under conditions of both decreased (as in AS) or increased (as in dup(15)) levels of the fly Dube3a orhuman UBE3A proteins. Using liquid phase isoelectric focusing of proteins from whole fly head extracts we identified a total of50 proteins that show changes in protein, and in some cases transcriptional levels, when Dube3a fluctuates. We analyzedhead extracts from cytoplasmic, nuclear and membrane fractions for Dube3a regulated proteins. Our results indicate that

Dube3a is involved in the regulation of cellular functions related to ATP synthesis/metabolism, actin cytoskeletal integrity,both catabolism and carbohydrate metabolism as well as nervous system development and function. Sixty-two percent of theproteins were >50% identical to homologous human proteins and 8 have previously be shown to be ubiquitinated in the flynervous system. Eight proteins may be regulated by Dube3a at the transcript level through the transcriptional co-activationfunction of Dube3a. We investigated one autism-associated protein, ATP, and found that it can be ubiquitinated in a Dube3adependent manner. We also found that Dube3a mutants have significantly less fi lamentous actin than wild type larvaeconsistent with the identification of actin targets regulated by Dube3a. The identification of UBE3A targets is the first ste p inunraveling the molecular etiology of AS and duplication 15q autism.

Title: Discrimination training reduces high rate social approach behaviors in Angelman syndrome: proof of principle. Journal: Res Dev Disabil.Authors:Heald M,Allen D, Villa D,Oliver C.Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Edgbaston B15 2TT,UK. [email protected]

Abstract:

This proof of principle study was designed to evaluate whether excessively high rates of social approach behaviors in childrenwith Angelman syndrome (AS) can be modified using a multiple schedule design. Four children with AS were exposed to amultiple schedule arrangement, in which social reinforcement and extinction, cued using a novel stimulus, were alternated.Twenty-five to 35 discrimination training sessions were conducted and levels of approach behaviors were measured beforeand after the discrimination training for two children. All four participants evidenced discrimination between conditions ofreinforcement and extinction after 16-20 teaching sessions as indicated by lower rates of social approach behaviors in thepresence of the S() for extinction. Reversal effects for the two children for whom this design was implemented were evident.

The results demonstrate that after repeated training, the use of a novel stimulus can serve as a cue for children with AS todiscriminate adult availability. This is a potentially effective component of a broader intervention strategy but highlights theneed for sustained teaching procedures within this population.

Title: The Angelman syndrome protein Ube3a/E6AP is required for Golgi acidification and surface protein sialylation. Journal: J Neurosci.Authors:Condon KH, Ho J, Robinson CG, Hanus C, Ehlers MD.Department of Neurobiology, Duke University Medical Center, Durham, North Carolina 27710, USA.

Abstract:

Angelman syndrome (AS) is a severe disorder of postnatal brain development caused by neuron-specific loss of the HECT(homologous to E6AP carboxy terminus) domain E3 ubiquitin ligase Ube3a/E6AP. The cellular role of Ube3a remainsenigmatic despite recent descriptions of synaptic and behavioral deficits in AS mouse models. Although neuron-specificimprinting is thought to limit the disease to the brain, Ube3a is expressed ubiquitously, suggesting a broader role in cellul arfunction. In the current study, we demonstrate a profound structural disruption and cisternal swelling of the Golgi apparatus(GA) in the cortex of AS (UBE3A(m-/p+)) mice. In Ube3a knockdown cell l ines and UBE3A(m-/p+) cortical neurons, the GA isseverely under-acidified, leading to osmotic swelling. Both in vitro and in vivo, the loss of Ube3a and corresponding elevatedpH of the GA is associated with a marked reduction in protein sialylation, a process highly dependent on intralumenal GolgipH. Altered ion homeostasis of the GA may provide a common cellular pathophysiology underlying the diverse plasticity andneurodevelopmental deficits associated with AS.

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http://www.ncbi.nlm.nih.gov/pubmed/23518390http://www.ncbi.nlm.nih.gov/pubmed?term=Heald%20M[Author]&cauthor=true&cauthor_uid=23518390http://www.ncbi.nlm.nih.gov/pubmed?term=Heald%20M[Author]&cauthor=true&cauthor_uid=23518390http://www.ncbi.nlm.nih.gov/pubmed?term=Allen%20D[Author]&cauthor=true&cauthor_uid=23518390http://www.ncbi.nlm.nih.gov/pubmed?term=Villa%20D[Author]&cauthor=true&cauthor_uid=23518390http://www.ncbi.nlm.nih.gov/pubmed?term=Oliver%20C[Author]&cauthor=true&cauthor_uid=23518390http://www.ncbi.nlm.nih.gov/pubmed?term=Oliver%20C[Author]&cauthor=true&cauthor_uid=23518390http://www.ncbi.nlm.nih.gov/pubmed?term=Oliver%20C[Author]&cauthor=true&cauthor_uid=23518390http://www.ncbi.nlm.nih.gov/pubmed?term=Condon%20KH[Author]&cauthor=true&cauthor_uid=23447592http://www.ncbi.nlm.nih.gov/pubmed?term=Condon%20KH[Author]&cauthor=true&cauthor_uid=23447592http://www.ncbi.nlm.nih.gov/pubmed?term=Ho%20J[Author]&cauthor=true&cauthor_uid=23447592http://www.ncbi.nlm.nih.gov/pubmed?term=Robinson%20CG[Author]&cauthor=true&cauthor_uid=23447592http://www.ncbi.nlm.nih.gov/pubmed?term=Hanus%20C[Author]&cauthor=true&cauthor_uid=23447592http://www.ncbi.nlm.nih.gov/pubmed?term=Ehlers%20MD[Author]&cauthor=true&cauthor_uid=23447592http://www.ncbi.nlm.nih.gov/pubmed?term=Ehlers%20MD[Author]&cauthor=true&cauthor_uid=23447592http://www.ncbi.nlm.nih.gov/pubmed?term=Hanus%20C[Author]&cauthor=true&cauthor_uid=23447592http://www.ncbi.nlm.nih.gov/pubmed?term=Robinson%20CG[Author]&cauthor=true&cauthor_uid=23447592http://www.ncbi.nlm.nih.gov/pubmed?term=Ho%20J[Author]&cauthor=true&cauthor_uid=23447592http://www.ncbi.nlm.nih.gov/pubmed?term=Condon%20KH[Author]&cauthor=true&cauthor_uid=23447592http://www.ncbi.nlm.nih.gov/pubmed?term=Oliver%20C[Author]&cauthor=true&cauthor_uid=23518390http://www.ncbi.nlm.nih.gov/pubmed?term=Oliver%20C[Author]&cauthor=true&cauthor_uid=23518390http://www.ncbi.nlm.nih.gov/pubmed?term=Villa%20D[Author]&cauthor=true&cauthor_uid=23518390http://www.ncbi.nlm.nih.gov/pubmed?term=Allen%20D[Author]&cauthor=true&cauthor_uid=23518390http://www.ncbi.nlm.nih.gov/pubmed?term=Heald%20M[Author]&cauthor=true&cauthor_uid=23518390http://www.ncbi.nlm.nih.gov/pubmed/23518390


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A Grandmother finds a solution for her granddaughter and all of our kids with Angelman Syndrome

By Lois CarrollWhen my growing granddaughter, who has AS, couldn't be fitted with large enough bibs, I took out my sewing machine tosolve the problem. I showed the resulting smock to friends, and my project, Sophie's Smocks, named after my granddaughter,was born so that many kids with AS could have a free smock.I buy new and gently used turtlenecks and trim. Supporters donate their time to help and their money for postage andmaterials to keep the project ongoing. All the smocks are FREE for individuals with AS. I have child size SMALL to adult XL.

They are available to others for a donation to cover at least the postage to keep the project going.To get a smock, all you have to do is ask by emailing [email protected]. Give me your child's shirt size plus a name andmailing address including zip. I'll send one as soon as I can. There's no catch and no obligation. I mail around the world andfree means free. You can check it out at my website: http://loiscarrollbooks.com/indexSS.htm

Thank you,Grandma LoisSophie's Smocks


Clinical Trial of Low Glycemic Index Treatment proves effective for reducing seizures by 80 90%

Dr. Thibert and Dr. Elizabeth Thiele (both are members of the Scientific Advisory board for the Angelman SyndromeFoundation) were able to launch a clinical study to determine the efficacy of the Low Glycemic Index Treatment inreducing seizures in individuals with Angelman Syndrome. In July 2012 the results were in and published in

Epilepsia and in the Angelman Syndrome Foundation newsletter.

Epilepsia link: http://onlinelibrary.wiley.com/doi/10.1111/j.1528-1167.2012.03537.x/abstractPubMed link: http://www.ncbi.nlm.nih.gov/pubmed/22779920

You can read my interview with Dr. Thibert on my blog www.MeetTheFamiliesofAS.blogspot.com

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NEW DEVELOPMENTS AT THE

ANGELMAN SYNDROME FOUNDATION

Angelman Syndrome Foundation Invests $1.25 Million in AS Research

Due to your support, the Angelman Syndrome Foundation is able to award more than $1.25 million in grants for AS

research this current grant cycle. This years funded research will contribute to all future AS preclinical and clinicaltrials, helping move AS research closer to developing treatments for individuals with AS while furthering the research

communitys understanding of the complexities of AS. Thanks to you, this years funded research will seek to define

the optimal window for potential treatment, further understanding of varying UBE3A gene mutations and deletions,

and determine if a current FDA-approved drug is a viable treatment in an AS mouse model.

ASF Biennial Conference,Your Ultimate AS Resource

The Angelman Syndrome

Foundations 2013 Biennial

Conference, Championing Progress,

will be held July 23-26 at the Walt

Disney World Swan & Dolphin

resort in Orlando, Florida. As a

central resource for your familys

unique needs and those of your

loved one with AS, the Conference

addresses all aspects of living with

AS and provides the opportunity

to network and learn from a

variety of experts and keynote

speakers, attend breakout sessions,

and participate in collaborative

opportunities with other families.

iPads For AS

To help individuals with AS

overcome some of the challenges

associated with communication,

the Angelman Syndrome

Foundation has launched the

iPads For AS program, which

provides Apple iPads for up to

100 individuals who qualify for

the program. Requirements for

participation include working

with a speech pathologist and

conducting quarterly assessments,

among others.

ASF Honors Your Investment

Due to your support and that

of more than 7,000 volunteers

during the last 21 years, the

Angelman Syndrome Foundation

has been able to:

Providemorethan250,000

individuals with information,support and connections toresources

Raisemorethan$12.5millionto fund research and providedirect support to individualsaffected by AS

Grantmorethan$5.8million

to more than 70 researchendeavors to support a diverseset of research projects

Holdmorethan186individual

walks in 42 cities across thecountry that have beenattended by more than52,000 individuals

The Angelman Syndrome Foundation

is honored to serve as a resource to

the AS community and welcomes

any individual touched by AS to

contact the organization.

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

Thank you for your support!

The 2013 Angelman Syndrome

Foundation National Walk boasted

record participation with more than

11,700 individuals who, to date,

have raised more than $1 milliontowards the $1.1 million fundraising

goal. Fundraising continues through

September 30. The Angelman

Syndrome Foundation is deeply

grateful for the time, energy and

support that you and the AS

community invested to raise these

funds that provide direct support to

individuals with AS and their familie

through programs, resources and

networking opportunities, and that

fund research that will help lead to a

cure for AS.
http://www.angelman.org/research/asf-funded-research/2013-funded-research/http://secure.angelman.org/index.cfm?fuseaction=cms.page&id=1059&eventGroupID=8A3147B9-C293-34EB-45313D35F6EF96C1&cmsContentSetID=8A644223-C293-34EB-49DA5BB618E75EE0http://secure.angelman.org/index.cfm?fuseaction=cms.page&id=1059&eventGroupID=8A3147B9-C293-34EB-45313D35F6EF96C1&cmsContentSetID=8A644223-C293-34EB-49DA5BB618E75EE0http://www.angelman.org/get-involved/ipads-for-as/http://www.angelman.org/mailto:info%40angelman.org?subject=infohttp://pinterest.com/angelmansyndfdn/http://www.twitter.com/Angelmanhttp://www.facebook.com/AngelmanSyndromeFoundationmailto:info%40angelman.org?subject=infohttp://www.angelman.org/http://www.angelman.org/get-involved/ipads-for-as/http://secure.angelman.org/index.cfm?fuseaction=cms.page&id=1059&eventGroupID=8A3147B9-C293-34EB-45313D35F6EF96C1&cmsContentSetID=8A644223-C293-34EB-49DA5BB618E75EE0http://secure.angelman.org/index.cfm?fuseaction=cms.page&id=1059&eventGroupID=8A3147B9-C293-34EB-45313D35F6EF96C1&cmsContentSetID=8A644223-C293-34EB-49DA5BB618E75EE0http://www.angelman.org/research/asf-funded-research/2013-funded-research/


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The Power of CookingAngelman syndrome, ketogenic dietsand LGITBy Sybille Kraft Bellamy

One of the best ways to naturally help our angels is by giving them a

nutritious healthy diet.Our angels are fragile and very sensitive to their environment.Little things, minor changes can trigger dramatic consequences.Each child is unique, each parent is special.

We have to rediscover the power of food.Therapeutic diets like ketogenic diets have been used for years to helpcontrol epilepsy. Today, the LGIT (Low Glycemic Index Treatment) isone of the easiest diets to give to our angels. It is one of the weapons

we can use to protect them from the multiple risks they face. Seizuresare a major and common risk for our angels.The LGIT helps balance and reinforce the energy they need to keepthem happy, healthy and at full cognitive capability.The modification of your childs diet can be done one step at a time.

Small changes can lead to big improvements.This is a unique opportunity for you, MOM and DAD to directly affectyour childs health and quality of life.

There is nothing more terrible than to feel helpless when your child is

sick. Our Angels challenges are numerous and it is proven that aspecial diet can help avoid many of their complications.The medical community is embracing this form of treatment to remedymany disorders worldwide. The Angelman community is hard at work tobring awareness of this treatment to our families. Resources such asAngleman Syndrome Diet on Facebook and The Charlie Foundation

can provide information and support to help you start taking control ofyour childs diet, health and wellbeing.

LGIT Testimonial - Jay and Joel are my 26 year old identical twin sons who both have Angelman Syndrome.Seizures have always been a huge problem for them, at one point they were both having over 250 grandmals a dayand spent almost a year in the hospital trying to get them controlled. Doctors at that time only gave them a 1%chance to survive. Now at age 26 Joels seizures are well controlled with meds but Jays have never been controlled.In March we started the LGIT after talking to his Dr. and getting a lot of support and advice from Sybille. Sincestarting the diet we have seen a huge decrease in the amount and severity ofJays seizures. Before the diet hewould have 10-20 seizures a week and need a rescue med 3x a week and now he may have only 4-5 seizures amonth. Prior to starting the LGIT Jays seizures were very intense grandmals where he would stop breathing and turnblue each time and he would have several in a row, we have not seen him turn blue or stop breathing since the diet. Ibelieve the diet is helping him tremendously and he is much more alert and vocal. Their neurologist has begun

weaning Joel off of one of his seizure meds because of the side effects and we have now started Joel on the LGITdiet also and he too is acting more alert and vocal (and no seizures!). - Lisa Truax-Murphy

Recipes can be found onFacebook.com/angelmansyndromediet

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LGIT Testimonial - Anna had a terrible start. She could not drink and because of this she was hospitalized 3 weeksafter her birth. They soon discovered she had epilepsy and here in The Netherlands I understood, almost all babies withepilepsy get Phenobarbital. Because I was not satisfied with the care Anna received we decided to move to anotherhospital. So almost 6 months later, the new neurologist advised us to stop with Phenobarbital and start with Keppra.And it was a good choice. When Anna was 1 year old she finally got diagnosed: Angelman Syndrome. With Keppra,we succeeded to keep her seizure free for almost 2 years. When the seizures came back we started with Rivotril(Clonazepam) in addition to the Keppra and it helped her for 2 years but then the seizures came back again. Her

neurologist advised us to start with a third drug but we didnt want to give her more medicine. At the same time I readthe research article about the LGIT and I got enthusiastic about it. I had to give it a try!Annas neurologist was a bitsuspicious but I insisted so he helped us. The first month was terrible. Anna got more seizures and was very tired. I wasso afraid I was only complicating her life instead of helping her. I was so down that I just wanted to stop the diet. Butafter a long phone call with Sybille Kraft I decided to continue the diet for just a few more weeks. And Im so happy we

did this. A week later, Annas absences were gone. She started to walk again, became more alert.... And the best thingof all was that for the first time in her life she slept for 6 hours without waking. This was so amazing!The LGIT made a big change in Annas life. She is able to concentrate, shes more active, and sleeps better. It's justamazing! At first, the diet appears very complicated. This is because we are so used to eating a lot of bread, sugar andprocessed food. If you just use fresh vegetables, meat, eggs and fish you can easily cook something very healthy, tasty

and LGIT. When travelling we always take our own food with us for Anna and there is always something on the menu ina restaurant that she can eat.-Violeta Giurgi

Summer Time is a great time to find your local farmers market and buy fresh fruits & veggies

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Angels in ActionAngels in Action is where you will read about the inspiring stories of the success in gained skills and abilities by our loved ones with

Angelman Syndrome. Written by the families, we join in celebrating the abilities no matter how big or small. We believe it is

important to inspire everyone with these real stories of our endearingly termed Angels in Action.

Possibilities abound when we have a vision!By Karen VanPuyenbroeck of IllinoisAngel Mom to Krista 10 years old, AS UPD

When I was asked by our Editor In Chief, Lizzie Sordia, to write a piece about Krista's abilities for this section; I asked myself, whatwere my burning questions about how to develop abilities in my daughter; and for me, I just really wanted to figure out how I couldteach her to speak. I knew that there had to be a way and I obsessed on this topic for hours, days, months and yes, even years. Ittook me quite a while to find an angel with functional speech but I found him and once I found him I knew that it was possible for myangel to speak too! I wanted to know how it was possible? And the big lesson that I learned from Richie's mom, Dawn was that they

first believed that he could develop this ability and so did his therapists! From that point on I developed my own belief and elimi natedtherapists who did not support my vision for my daughter of verbal communication and unfortunately for me; this meant that Kr istareceived no speech therapy for a time and mom became her therapist with the help of a program called NACD. Through NACD, Ilearned that an unskilled parent, who was willing to learn how to implement therapy, who would spend many hours per weekimplementing therapy and who could maintain the vision for their child was preferable to a highly skilled professional therapist whocould only spend an hour per week with my child and who did not share my vision.

Today, at age 10 Krista speaks over a hundred words and has quite a few phrases, her speech has been referred to as "functional"by her school and by the last two speech therapists who have evaluated her. Krista's favorite and most consistent phrase over theyears has been "I love you" and if those were the only words that I had ever heard spoken from the lips of my angel, all of t he energythat we have put into her healing program would have been worth it and I would do hundreds of times over again.

Here's how we did it:1. We cultivated belief! I have to credit my husband Steve for this. This angel Daddy always knew that his girl was A-ok. And to mykid's Nana who said simply "if you want her to speak, we will teach her to speak". Because Nana has adult twin boys with autism asa result of Urea Cycle Disorder; I knew, that she knew exactly what she was talking about and so I believed her. Krista's oldersiblings played an essential role; by always speaking to her as if she could speak back.

2. I tossed out any Debbie Downer therapists or health care providers in her li fe; at times, this meant that she did not receivecertain therapies at all; but again, I had come to understand that it was better that I work with her with all of my love, support andbelief than it was for a professional who didn't see things that way.

3. I only shared my vision for my daughter with people who believed in her ability; well meaning friends and relatives may want tohelp you "accept" your child's l imitations. I finally came to understand that this was their position and realized that pushing the issuewas only baiting them into an "oh you poor dear, it's sad that you have not come to terms with your child's disability" type of lecture.

4. Gluten and Casein free diet baby! Thanks to a miraculous accident; I bought the wrong Autism book at Barnes and Noble calledUnraveling The Mystery of Autism by author, Karyn Seroussi. This started us on an amazing journey that lead us to the wonderfuldiscovery that by removing these offending proteins my daughter's health would improve drastically and as a result of her improvedhealth status, Krista gained many wonderful skills; much too many to mention here but improved speech was definitely a biggie !


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5. At 5 oclock sharp every morning, Krista liked to crawl out of my bed and venture off to her play room

where she'd play with blocks and just adored taking things apart. During this play time, I would get downon the floor with her, grab a block, put it near my mouth and just repeatedly say "Mama". The toy wasused to bring her attention to my mouth, a technique that I learned while researching the Son-Riseprogram. This developed into me singing "Mama" over and over again and pretty soon my girl wassaying "Mama"; so I'd check in with her daily to make sure that she stil l had "Mama" down pat and I thenmoved on to Dada and Baba etc... Some words came very easily and some did not; but I remained

grateful for every word or approximation that this angel girl could produce, never giving a secondthought to the ones that were really tough for her. Always referring to her speech as "developing".

6. Through Glenn Doman's book, What to do About Your Brain Injured Child (Brain injury in this contextreferring to any condition affecting your child's cognitive ability). I learned that I should listen out fordifferent sounds that she would make; for example, many babies will babble "mmm". You catch the childsaying "mmm" and you sit him down and say, "I have noticed that you can say "mmm". Now we will takethat "mmm" sound and it will mean Mama". In this scenario, every time you hear the child babble"mmm", you will quickly reinforce this by saying something like, "You said Mama! I love it when you sayMama! You called me and I came!" My Krista is very high intensity and responds very well to intense,animated and even loud praise, so this method has proven very effective for us.

7. Good probiotics to clear up yeast in the gut and to help to heal Krista's gut was essential!

8. Krista gained even more speech while participating in the Angelman Syndrome Supplement Trial.

9. We used MB12 shots with much success in Krista learning to string together longer sentences.

10. Lastly, in recent months, Lizzie talked me into supplementing with a fish oil that is specificallyformulated to aid in speech development. We saw great results; I learned quite a bit about therapeuticdosing of fish oil at Integrative Nutrition where Dr. Sears of The Zone Diet was a guest lecturer and hugeadvocate for this approach. From this, I learned that Krista needed about three times the amount of fish

oil than what is recommended for general health in order to be able to see an increase in ability forspeech.

My determination for Krista to learn to speak started when she was a mere baby; she is now 10 and I'mstill learning and remaining open to safe and effective ways of helping her in the area of speech; as wellas, many other areas of her life that will help her to become an independent young lady.

f you are reading this and feeling a bit bummed out that you were not as convinced about the speechthing as I was or you feel like "oh had I only been that determined, maybe I would be hearing my sweetAngel's voice". Let me say this... DO NOT feel that way! There was something that seemed out ofreach for your Angel that you were able to help him or her accomplish that I may have not been able tohelp my daughter to accomplish. We only have so much energy to expend in a day; I chose to expend iton speech. Another parent might be more consumed by helping their child to gain the ability to walkndependently; maybe you always envisioned your angel riding a bike or reading, whatever it is, I hopeour story encourages you to cultivate a belief and unwavering faith that wil l lead to the achievement ofyours, and more importantly, your Angel's dreams!

Written by:Karen VanPuyenbroeckAngelman Today MagazineAssociate [email protected] is a certified Health Coach providing Nutrition Counseling services to the special needs

community with a focus on Angelman syndrome. To learn more about her services, visit her website atwww.AngelFoodsbyKaren.com.


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Social Security Disability Benefits and Angelman SyndromeAngelman Syndrome (AS) is a complex genetic disorder characterized by developmental delays and neurologicalproblems. Children with AS often require around-the-clock care for their entire lives.

Parents of children who have AS often dedicate extra time, energy, and even money to provide a high quality of life fortheir child. Assistive technology, supportive care, and specialty medical treatments rack up expenses quickly. Parents

may even find it necessary to take time away from work to be with their child. The resulting loss of income and lack ofmedical insurances can be financially devastating.

If your child has been diagnosed with Angelman Syndrome, he or she may qualify for financial assistance in the form ofSocial Security Disability (SSD) benefits. SSD payments can be used to cover your childs expensesincluding anythingfrom food to supportive services to medical bills.

The following article will give you a basic overview of the options available to your family and will provide you with theinformation needed to begin the SSD application process.

Compassionate Allowances and Angelman SyndromeTypically, the SSD application process can take months or even years to complete. Fortunately, the SSA recognizes thatindividuals with severely disabling conditions may not be able to wait that long to receive disability benefits. For thisreason, the SSA offers Compassionate Allowances (CAL) processing to individuals with certain disabilities. Applicantswho have been diagnosed with conditions covered by the CAL program can receive SSD benefits in as little as 10 days.Angelman Syndrome is one of approximately 200 conditions that qualify for CAL processing. You will not need to fill outadditional paperwork or request to receive CAL processing. The SSA will evaluate your childs claim and expedite it

accordingly.

Social Security Disability Insurance and Supplemental Security Income

The SSA offers disability benefits through two separate programsSSDI and SSI. Each of these programs has veryspecific technical eligibility requirements.

SSDI stands for Social Security Disability Insurance and provides benefits to disabled workers. Eligibility for SSDI isdependent on an applicants employment history as well as the amount of taxes he or she has paid into the system.

Children and young adults dont often qualify for SSDI on their own record because they havent had the chance to work

and pay into the program.

It is important to note, that if the childs parent is qualified for SSDI or retirement benefits, the child may qualify for

dependent benefits based on a parent or guardians earnings record. If your child is technically an adult, but was

diagnosed with Angelman Syndrome before age 22, he or she is considered to be an adult child. Adult children may alsoqualify for a childs dependent benefits.

SSI stands for Supplemental Security Income. SSI is a needs-based program that provides financial assistance to elderlyor disabled individuals who earn very little income. Eligibility for SSI is based on financial need, not employment history.To qualify, applicants cannot exceed specific financial limitations set in place by the SSA

In the case of a child, a portion of his or her parents income will be deemed . This means that the SSA will evaluate the

deemed income to determine whether or not the child meets the SSI financial eligibility requirements. Deeming occursfor children who are under the age of 18, unmarried, and still live with a parent or guardian. Parents earned income,

unearned income, and financial resources will all be taken into consideration.


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Income and resources that will not be deemed includes the following:Welfare paymentsPublic Income Maintenance (PIM), including Temporary Assistance to Needy Families (TANF) and VA pension forveteransFood stampsDisaster assistanceFoster care payments

Tax refunds on real property (property that includes land and/or buildings)Home grown produce used for personal consumptionThe SSA also makes the following allowances for living expensesmeaning that the following will be deducted from theamount of income deemed to your child:

$365 a month for each additional child that you support.$710 a month for a single parent or $1,066 for two parents.It is important to note that this amount will not be subtracted for parents or children who already receive public assistance.Once your child turns 18, SSI payments will be based on his or her own earnings record.

Medical RequirementsIn addition to the previously mentioned technical requirements, your child must also meet very specific medicalrequirements to qualify for disability benefits. The requirements can be found in a publication known as the, blue book.

The SSAs blue book contains listings for potentially disabling conditions as well as the specific medical criteria an

applicant must meet to qualify under each condition.

The SSA has separate listings for adults and children. The specific medical requirement that your child will have to meet isdependent on his or her age. Your child will have to meet one or more of the following blue book listings to qualify fordisability benefits.Section 12.05Mental Retardation (Adult)Section 112.05 Mental retardation (Child)Section 110.08 B Catastrophic Congenital Disorder (Child)You can access these specific listings on the SSAs website.

Preparing for the Social Security Disability Application ProcessEven though your child qualifies for the Compassionate Allowances program, you will still have to provide thorough medicalevidence that proves the extent of your childs condition. Medical evidence should include records of your childs diagnosis,treatments, response to treatments, hospitalization records, and medical test results. You should also collect statementsfrom professional adults that interact with your child on a daily basis. This can include doctors, teachers, and therapists.These statements should provide details about your childs limitations and abilities.

The SSA may also ask for evidence of the following:Your childs inability to perform age appropriate functionsIQ test results showing a marked developmental deficit, based on ageOther developmental delays and impairments in physical and mental functioning, again based on ageYou should collect these documents prior to beginning the application process to prevent any delays in the processing ofyour childs claim.


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Starting Your Application

The SSD application procedures will differ depending on whether you are filing for SSI benefits or SSDI dependentbenefits.

Ifyou are interested in learning more about dependent benefits, you should call the SSAs main phone line (1-800-772-1213) or contact the representative who handles the eligible parents claim.

To apply for SSI benefits on behalf of a child, you will be asked to complete two forms: the Application forSupplemental Security Income and the Child Disability Report. Currently, only the child disability report can be

completed online. You will have to schedule an appointment with your local Social Security office to complete theapplication for SSI.

Ifyou are applying for SSI on behalf of an adult, you will have to complete the same process with an AdultDisability Report rather than a child disability report.

It is important that you realize how overwhelming and complicated the SSD application process may become. Infact, many initial applications are denied and require the applicant to request an appeal hearing. If your childs

application is denied, do not give up. The key to receiving disability benefits it to be persistent in your efforts .

For more information about applying for disability benefits visit Social Security Disability Help (www.disability-benefits-help.org) or contact Molly Clarke at [email protected].


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READ MORE ABOUT OUR ACTIVITIES AND BROWSE THE

INFORMATION PAGES HERE:

http://angelmannetwork.wordpress.com/

Our successful International Angelman Day celebrationsheld across the country:

http://angelmannetwork.wordpress.com/learn-

about/what-is-the-angelman-network/

For up to date info on Therapies:http://angelmannetwork.wordpress.com/therapy-for-as

For information and ideas regarding Communication:http://angelmannetwork.wordpress.com/education-and-

communication

For general information on Epilepsy in AS:http://angelmannetwork.wordpress.com/angelman-

syndrome/angelman-syndrome-epilepsy/

The Angelman Network was

established in New Zealand as a

Charitable Trust in 2011 (CC46746).

We seek to connect and support

people impacted by Angelman

Syndrome.

++++++++++++++

We are New Zealands only organisation

solely dedicated to promoting

awareness for Angelman Syndrome;

and to actively promote and support

the progress being made with world-

wide research on AS.

++++++++++++++

Our Information Pages are

regularly updated to include

new/improved ideas and links as

these become available.

+++++++++++++++

Our aim is to offer an active and

accurate website which will become

a helpful resource for families and

provide useful and reliable information

for medical and educational

professionals both in

NZ and around the world.

WE ARE ON FACEBOOK AT:

Non-profit page:

https://www.facebook.com/theangelmann

etwork

Our ACTION ANGEL TEAM is an informal

fundraising group who regularly raise funds andawareness for Angelman Syndrome by running in

local races wearing their signature white wings.
http://angelmannetwork.wordpress.com/http://angelmannetwork.wordpress.com/http://angelmannetwork.wordpress.com/learn-about/what-is-the-angelman-network/http://angelmannetwork.wordpress.com/learn-about/what-is-the-angelman-network/http://angelmannetwork.wordpress.com/learn-about/what-is-the-angelman-network/http://angelmannetwork.wordpress.com/therapy-for-as/http://angelmannetwork.wordpress.com/therapy-for-as/http://angelmannetwork.wordpress.com/education-and-communication/http://angelmannetwork.wordpress.com/education-and-communication/http://angelmannetwork.wordpress.com/education-and-communication/http://angelmannetwork.wordpress.com/angelman-syndrome/angelman-syndrome-epilepsy/http://angelmannetwork.wordpress.com/angelman-syndrome/angelman-syndrome-epilepsy/http://angelmannetwork.wordpress.com/angelman-syndrome/angelman-syndrome-epilepsy/https://www.facebook.com/theangelmannetworkhttps://www.facebook.com/theangelmannetworkhttps://www.facebook.com/theangelmannetworkhttps://www.facebook.com/theangelmannetworkhttps://www.facebook.com/theangelmannetworkhttp://angelmannetwork.wordpress.com/angelman-syndrome/angelman-syndrome-epilepsy/http://angelmannetwork.wordpress.com/angelman-syndrome/angelman-syndrome-epilepsy/http://angelmannetwork.wordpress.com/education-and-communication/http://angelmannetwork.wordpress.com/education-and-communication/http://angelmannetwork.wordpress.com/therapy-for-as/http://angelmannetwork.wordpress.com/learn-about/what-is-the-angelman-network/http://angelmannetwork.wordpress.com/learn-about/what-is-the-angelman-network/http://angelmannetwork.wordpress.com/


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Shea teaches himself to read!By Carol Pulver of FloridaAngel Mom to Shea 22 years old, AS Del +

Shea (pronounced Shay), our youngest, weighed a whopping 6 lbs at birth. The largest of our 4 sons; his deliveryfollowed an unremarkable pregnancy and he was born close to my due date. Sheas Apgar scores (the tests doneshortly after birth) were all normal/high. He had all his fingers and toes and everything was wonderful.Problems began in the next couple of days when Shea had difficulty nursing. He continued to have problems feedingand was back in the hospital at 6 weeks with failure to thrive (the catch all phrase). While in the hospital, a visit from aspeech therapist alerted us to the low muscle tone in Sheas cheeks and his tongue thrust causing the inability for him

to sustain a suck for more than a few seconds.

At home, as we worked to make sure Shea received the nourishment he needed, we began to notice some sensoryissues. Moderately loud noises were very upsetting to him, he seemed to startle easily and he wasnt meeting themilestones we were expecting in his development. The pediatrician told me I was worrying needlessly, that Shea wasjust a little behind in his development. Seeking a second opinion from another pediatrician, I was told to immediatelyschedule a neurology consultation, get an EEG and do blood work to check for abnormalities.Up until this point, though my mothers intuition was telling me something was not right, I still trusted our family

pediatrician to knowmore than I did. I was wrong. I learned to listen to that intuition; to act on it. Through the visit withthe neurologist and the blood work, we received some answers.

I remember the day we got our diagnosis of Angelman Syndrome (Shea is deletion +). Shea was about 2 years old.

The neurologist gave us copies of articles from an early 80s medical textbook, describing Angelman Syndrome. Hetold us that our son wouldnever be able to walk, to talk or to function as our other children and that we might as wellfind a place for him. The doctor painted a very bleak picture of the future. After leaving the office, my husband and Isat together in our car (as we cried) wondering what to tell our families; feeling quite hopeless.We knew Sheas place would be with us, as long as we can take care of him. We decided that we would doeverything in our power, provide every opportunity, for Shea to be all he can be. Our journey has not been trial free, butthe joy Shea brings to us and most everyone that gets to know him makes the challenges a little easier to bear.

I want to share some of the things weve learned along this journey:1. Always trust your intuition. No one knows your Angel(s) as well as you do.

2. Never put a limit on your Angels abilities.

Angels in Action


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Shea taught himself to read.We were shocked when he consistently pointed to the correct flashcard when his teacher asked him to identify a

word on the card. We think he learned to read by watching his Disney Sing-a-long songs videos (over and overagain), with the little bouncing ball over each word as it is sung. He still enjoys watching them.3. You are your childs greatest advocate. It can be tiring; sometimes it feels like were always fighting for ourkids. Remember that no one else cares as much as you do.4. Our kids are smart. They want to learn and they want to show what theyve learned. Give themchoices. Sometimes they process a bit slower, so it takes them a little longer to follow through after a request ismade. Make sure teachers and therapists are aware of this and are patient.5. Diet makes a difference. Good nutrition along with supplements can help with sleep problems and mayalleviate the severity of seizures.6. There are moms and dads around the globe that are dealing with or have found the answer to many of the

problems/concerns you are facing. Connect with them. If you can, attend a conference or get-together (andWalk-a-thon) where you have the opportunity to be meet other Angel families. We help our Angels as we helpone another.

When Shea was about 8 or 9 years old, we had the opportunity to visit with the neurologist that gave us thediagnosis (and pronounced the dismal life ahead for Shea). The Doctor wanted to use Shea as an example of aneurological disorder to a group of doctors and nurses. He was quite surprised (and said as much) to see ayoung boy walk into the room and sit fairly quietly in the chair he was directed to and who seemed to understandthe directions he was given by his mom.We also explained that though Shea might have some developmental delays, the doctor using the R word inhis discussion was not appropriate and was offensive. We hope that doctor learned to never put a limit on anAngels abilities.


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ReflexologyBy Mariano Schiffini

At Casa Angelman Foundation, we implement daily or weekly therapy in our Educational Therapy Center where Angels can enjoy thebenefits of this mil lennia old technique. Hyperactivity, ADD and the sleep disturbances that are so common in children with Angelmanare being treated with reflexology yielding excellent results! Reflexology is a natural technique that is based on the principle that theentire body including organs and glands are reflected on specific points on the feet. Reflexology works by activating those centersthrough massage and by applying pressure to specific points thus creating harmony in the centers that are out of balance and activatingthe self healing energy of the body.

Over the last year and a half, I have worked with over 40 children with AS. During this time, I have observed characteristics that haverepeated themselves in the majority of cases. Lack of contact with the heel of the foot to the ground creates an imbalance that allchildren with AS whom I have worked with have. At the beginning of each session I evaluate the feet and identify areas of imbalance sothat I can work on them based on the principles of water, air, land and fire. Each area of the foot has a trigger point that correspondsto the body system; for example, the toe area (air) corresponds to our head, sensory areas, mental state, expression andcommunication. By applying pressure here, we create harmony in this system; thereby, correcting the imbalance and activating the selfhealing energy that promotes a state of homeostasis.

During the initial session I work with the child to get him or her to be comfortable laying down on the table. Some children handle thismore easily than others. With very active children its best not to cause distress. We increase the duration of horizontal therapy slowlyuntil finally achieving 45 minutes of relaxation. The key point is the connection with the therapist that will grow over time , taking intoconsideration the appropriate duration for each child. As we begin the session, I introduce a playful activity that includes items that arelight and of soft texture; it can be a ball made of fabric that makes a slight noise or rattle to help reduce the anxiety that the new activitycauses. This way the game functions like a vehicle that permits sessions to be expanded over time until finally managing to discard it

completely. At first, my work centers around relaxing the child so I can begin with the treatment technique. The treatment consists ofworking on different parts of the system including, circulation, digestive, lymphatic, respiratory and endocrine by massaging thecorresponding reflexology areas. The ambience of the therapy must be well guarded. It is important to generate a calm and sereneatmosphere that promotes relaxation while avoiding elements of distraction or interference. Instrumental music and some relaxingessential oil; such as, sandalwood or rose helps to generate pleasant sensations and wellbeing. In my work with children who have AS;I have noted improvements in the areas of increased attention, improved gait stability, eye contact and many children will actually fallasleep during the session. After the first few sessions children with AS often express a desire to return for further sessions and willparticipate happily.In such an atmosphere of serenity and acceptance, devoid of judgment, bit by bit the individual strengths of these children arise andtake their roots.

Reflexologist of Casa Angelman. For more information email [email protected]

Editors Note: It is important to note that reflexology has been studied and proven effective for its ability to improve sleep in those who

suffer from insomnia as demonstrated by a Chinese study http://www.reflexologyresearch.net/ReflexologySleepResearch.shtml.

Angel Mom Rocio Balbuena of Argentina had this to say about her experience at Casa Angelman:

Hi, I am mother to Agustina Gonzalez, a 4 year old girl with Angelman Syndrome. I feel that the reflexology treatment that

my daughter received at Casa Angelman was a great success! Agus fell asleep after the first 10 minutes of the therapy; oncethe session was complete, the therapist informed me: She is asleep; don't worry, she will sleep well for 1-2 hours, and so itwas; she was very relaxed. I strongly recommend reflexology for all children with Angelman Syndrome.

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Gluten Free LivingBy Isabel OrellanaOver the years, gluten has become a much debated substance. But what is the fuss all about? It is estimated that 5-10percent of the US population is sensitive to gluten. This would mean that 5-10% of our angels are sensitive. However,

the number is probably much higher. When our angel first got diagnosed at 11 months we had never given him glutenbecause our pediatrician had advised us not to start with wheat before age 1. After the diagnosis and investigatingabout neurological differences and food related issues, it became clear to us that our angel would continue his glutenfree journey for good. It is important to note that the gluten free diet (GF) is not just a fad diet that will pass sooner orlater. For neurologically different kids it can make a huge difference and be an important contributing factor inmaximizing your childs health and facilitating development. But you might say that people have been eating wheat for

thousands of years, right? Yes. However, people a few hundred years ago did not have to deal with many other factorssuch as a weakened gut due to medications and processed foods.

What is gluten?

Gluten is a protein found in various grains such as wheat, barley and rye. While gluten is not present in oats, peoplesensitive to gluten can react to oats due to cross contamination. This occurs when oats are packaged at a wheatprocessing facility.

Where do I find gluten?

Typical gluten containing foods are: bread, pasta, pizza, cereal, cakes, cookies and many processed foods withingredients such as soy sauce, etc.

How can gluten affect special needs kids?

Of course it can affect any person but it appears that people with neurological differences seem to be more sensitive to

gluten due to its inflammatory nature. For children with autism for example, removing gluten and other problematicsubstances such as sugar, dyes and artificial flavors as well as pasteurized dairy have noted great results in symptommanagement.

What are symptoms of gluten sensitivity?

Detecting gluten sensitivity is often difficult since the symptoms may vary from person to person and in severity. Noteveryone who is sensitive has celiac disease; the most severe form of gluten intolerance. The most common symptomsare gastrointestinal issues (bloating, reflux, diarrhea or constipation), eczema and irritability.

What options are there?

Amaranth, buckwheat, corn, millet, oats, quinoa and rice (preferably whole grain or wild rice) are all gluten free options.However, for our angels who are on a low glycemic index diet, I recommend watching gluten free alternatives carefullysince processed alternatives such as store bought bread, cookies, pasta and pizza are often made with high glycemicindex alternatives such as potato, tapioca and white rice and this could prove counter productive in other areas such asinflammation control.

Conclusion

Gluten free living is a healthy approach for the entire family given that today's wheat is highly altered from its originalstate and therefore holds minimal nutritional value. Wheat is one of the 8 core allergy foods and as a simplecarbohydrate can increase inflammation and related infection risk in the body. If you are looking for support on yourgluten free journey join the GFCF angels group and the Angelman Syndrome Diet page on Facebook. Start your

journey today! You have nothing to lose.

GF


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About the Author: Isabel Orellana de Chang is a busy mum of two who, since her sons diagnosis of Angelman

Syndrome, has become passionate about learning all she can about healthy living. She applies nutritional therapiesand keeps a toxin free home to maximize her sons health and developmental potentials. She enjoys converting

recipes to her familys needs for maximum nutrition and healing. She loves doing research and sharing what has

worked best for them as a family in order to help other special needs families. She juggles her time between herfamily, her business Guatebaby.com and the magazine Angelman Today. Isabel hosts the Facebook GroupAngelman Syndrome & Alternative Health Approachsupporting interested families in improving their Angels healthand development. Her book Healthy Living for Special Needs will be coming out this summer.

Helpful links:

http://online.wsj.com/article/SB10001424052748704893604576200393522456636.html

http://www.naturalnews.com/gluten_intolerance.html

http://www.mindbodygreen.com/0-7482/10-signs-youre-gluten-intolerant.html

http://www.huffingtonpost.com/dr-mark-hyman/gluten-what-you-dont-know_b_379089.html

http://www.celiac.com/

http://www.celiaccentral.org/non-celiac-gluten-sensitivity/

Some helpful tips to remember when meal planning:-Always keep it simple

-Fruits, Veggies and Meats are naturally Gluten Free

Angelman Today July edition www.angelmantoday.com28
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Carter learns to regulate his behavioral response by eliminating allergens and receiving RDI therapy:

By Nealie Prewitt of Missouri

Once Carter was diagnosed with Angelman syndrome; It didn't take long for us to learn what life with an "Angel"meant. Sleep deprivation, behaviors, therapies, colds that always got worse, and social obstacles were some of thebiggest challenges for us and Carter. There wasn't a day that went by that I did not think, "there has to be something,some therapy, some approach, anything that I could do to make his life- our lives not so enduring. Sleep seemed to bethe worst. I noticed that Carter always seemed congested and it would keep or wake him up at night so I started with anE.N.T. The E.N.T noticed Carter had huge tonsils and extremely huge adenoids. The E.N.T was confident that Carterwas suffering from sleep apnea. At two years of age, Carter had surgery to remove his tonsils and adenoids. Sleepdrastically improved but Carter still seemed to have cycles of very little sleep.

We then decided to take Carter in for allergy testing and imagine my surprise when Carters test results came back

positive for allergies to wheat, gluten, dairy, beef, pork, cherry, and tree nuts. So that sealed the deal, we were goinggluten and dairy free and everyone had to support the changes because Carter was allergic to it. It was amazing to seethe differences in Carter after these foods that he was allergic to were removed from his diet. In a matter of days, Carterwas less aggressive, more focused, reasonable, negotiate-able, his eczema went away, and his digestive systemimproved. Removing these allergens from Carter's body allowed us to see just how miserable he felt and whathe was doing to cope with constant digestive discomfort, burning itching skin, and headaches.

Over his three short years, the very things Carter used to cope, quickly became habits and behaviors - the headbanging, pinching, hitting, throwing, and yelling instantly improved but did not go away, and Carter had also learned touse these behaviors when he was frustrated, unsure, or when he just didn't want to do something. Carter yearned forpeers but struggled to interact without becoming aggressive. Even though Carter's diet had now become natural to usand made a huge impact on our daily lives; something still seemed to be missing. Life was still very overwhelming for allof us at times. If Carter eats dairy or gluten or a combination of the two or any other allergen, Carter is visibly a mess!He will react to any impulse and sensation without thought or concern for anyone including himself. Still there is thatmissing piece that leaves Carter aimlessly floundering thru each day.

Knowing that Carter deserved and needed more, we began to investigate our options. In a meeting with our advocate,we learned of a school that provided RDI therapy. Carter has now been attending Dynamic Pathways for 12 months andI can not tell you how much the RDI approach has changed our lives- especially Carter's life! This approach seems to

be that missing piece that Carter needed.

Angels in Action


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RDI stands for Relationship Development Intervention. Brad and I are still learning about Relationship DevelopmentIntervention and how to consistently implement it in our familys life, but I do know what RDI looks like. I see RDI everyday when I look at Carter and see my Angel happy, growing, maturing, successful, and building social relationships withoutaggression or major frustration. I see Carter having his own thought processes that are appropriate for the situation he isin; he is not trained in social graces but has been given the ability to think for himself about how to make socially

acceptable choices.

A small example of what RDI looks like on a daily ongoing basis would be how Carter is learning to understand and copewith emotions. 12 months ago if a random person was crying or angry, Carter would hit himself, that person or whomeverwas in reach. Now if a random person is crying or angry he seeks a trusted person and uses gestures to ask "what iswrong?" or "is everything ok?". If the person is a friend or family member, Carter will go to them and rub their back andwith gestures ask, "what is wrong?" If the emotion is too much for him to understand or deal with, he will give the sign forfinished and want to leave the area. For Carter, gaining understanding of emotions and what to do about it took a lot oftime, work and support and is still a work in progress as he is making the connections that something happened to causethe emotion. In the beginning, Carter would react instantly with negative responses to emotions he could not or did not

understand so Brad or I would stay physically close to Carter, guiding him with either physical contact or cues through bodylanguage.If Carter was banging his head we might put a pillow, a soft surface or our hand between Carter's head and what he isbanging his head on, and then give him a visual cue by shaking our head no. As time (a lot of time) went on Carter wouldbang his head less and look to us for a cue when someone was crying or upset. When we noticed he was rarely hitting hishead and consistently looking to us when someone was upset we began modeling appropriate behavior; we would stepback and watch the person that is crying. When Carter started to follow our cues without head banging and could chooseto step back and look at the person that is crying on his own or with little to no cues from us, we started modeling a newbehavior. I would ask (sometimes remembering to use Carters gestures with our words) Brad if he knew why the personwas upset.

When Carter consistently started to come to us or Baylor when someone was upset, we very slowly and cautiously startedmodeling the next step and we would ask the person what was wrong or if they were ok. Currently asking the person ifthey are ok can be too much for Carter especially if he starts to ask the person and the person cries more or pulls awayfrom him; he may swat at them as if to hit them; so, we supported him where he was and added the option to "flee. Fleemeans he can sign or gesture finish and leave the area the upset person is in. This has taken Carter (and us as parents) alot of time but he has gained a lot of other thinking processes too during this time.Carter still has his moments but they are few and far between and he quickly regains his "self-control" or regulation. I lovethis approach because as a guide- everyone is taught and allowed to support Carter. Sometimes Carter needs strategiesto cope or think as a support and other times he needs a hug or a reassuring pat on the back as support; but no matterwhat Carter's behavior is, the guides, models, teacher, whatever you want to call them are supportive and are modeling theflexible thinking it takes to learn the relationships and connections that are a part of the world. This approach comeswithout candy or food rewards and motivation, there is no place for shameful looks or humiliating comments; a behaviorcan be overlooked when there is growth in another area but heartless ignoring has no place in this approach.

With the RDI approach everyone is supporting Carter based upon his needs during every stage of learning. I am sorelieved that our lives will never go back to that overwhelming feeling of despair because Carter is making connections andrebuilding relationships that are allowing him to gain flexibility in his thinking, and the only way he was able to start doingthis was through Dynamic Pathways and the RDI approach.


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The inaugural Internaonal Angelman Day was observed by over 30 organisaons and hundreds of individuals worldwide. Its resounding

success provides a solid plaorm to plan and organise for next year and indeed 2015 which will be the 50th anniversary of Dr Harry

Angelman idenfying Angelman Syndrome and also Dr Harrys 100th

birthday.

We are humbled that an idea from our small and recently founded organisaon in Ireland was embraced by the global community and are

delighted that Internaonal Angelman Day provided the inspiraon for this e-zine Angelman Today. We wish the editor and team every

success with this excing endeavour.

INAUGURAL INTERNATIONAL ANGELMAN DAY A GLOBAL SUCCESSWhen the board of Angelman Syndrome Ireland rst discussed the possibility of establishing an Internaonal Day devoted to Angelman

Syndrome lile did we ancipate the groundswell of support there would be from the four corners of the globe.

The rst step was to seek out and contact all the organisaons supporng those with AS around the world and collecvely agree on a date

which we would all observe and celebrate as Internaonal Angelman Day. The date voted on was February 15th

2013 February as it is

already recognised worldwide as Rare Disease Month and the 15th

as a symbolic reference to Chromosome 15.

ANGELMAN SYNDROME IRELAND

The organisaon was formed in November 2011 to:

Provide a support & informaon network

oering fact based knowledge about living with

Angelman Syndrome for families, caregivers

and service providers throughout Ireland

Finance and encourage research eorts in line

with current internaonal work to advanceunderstanding and deliver a treatment for

Angelman Syndrome for people in Ireland

Our voluntary board and advisory team are

recognised in their respecve elds of

neuro-development, paediatrics, clinical trials,

medical technology, business strategy, and nance

& charity governance.

BOARD OF DIRECTORS: Dr. Kevin DunneConsultant Paediatrician,

University College Hospital, Galway.

Mairsil ClaeyVP Clinical, Regulatory and

Quality with Neuravi Ltd

Robert MoynihanFinance & Governance

Ashling K

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