Angelman Today January - February 2014

INCLUDING RESOURCES ● RESEARCH ● INSPIRATION

Angelman

Today

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

Reduce Seizures with the LGIT

EDITOR’S LETTER

Happy New Year!!

I am so excited to welcome in 2014!! Last year was wonderful. As you know we first launched Angelman Today over the summer and had such a great response with support from the community and the scientific and medical professionals involved with Angelman Syndrome.

I am hopeful for the future with the ongoing research projects funded by the hardworking foundations across the globe. I am so very happy to see the alliance of foundations in funding research.

I not only wish you health and happiness in the new year, but will search high and low to find you information, products and services to help make your today easier and your future brighter!

We brought you the article last edition about MAPS doctors, they are, in my experience the ticket to a healthier today and an even better tomorrow.

Warm Wishes, Lizzie Sordia Editor - in - Chief

WWW.ANGELMANTODAY.COM

January / February 2014

46

19

18

40 44

4

Angels Week Off Vacation Giveaway

Angels in Action - Rylee , age 9……….6 A Cure for Louie………………………….9

By Terry Jo V. Bichell, MPH, CNM Fat and the Human Brain.……………..16 The History of Angelman Syndrome....18

What’s inside

Cover: Maycol Buffet, 3 yrs old, AS From Argentina

Angelman and Associated Foundations Angelman Portugal …..................10

International Angelman Day…………..19 The Gift of Helplessness………………21 Angels in Action – Lukas, age 15…….24

The Angelman Syndrome Foundation…………………….…..14

The Angelman Network – New Zealand……………………………20

Aromatherapy for Angels………..…….28 THERAsurf……………………..…26 LGIT (Low Glycemic Index Treatment) Chocolate Help Milk

by Sybille Kraft Bellamy…………….....32 Interview with Dr. Thibert………………33 About the Low Glycemic Treatment

Angelman Syndrome Belgium…..27 Casa Angelman Argentina………30 Israeli Angelman Syndrome Foundation…………………….…..31

Angelman Syndrome and Sleep..…….38 Angels Week Off………………….…….40 Vacation Giveaway

Angelman Syndrome Association Spain…………….…..35

Valentine Raspberry Mousse………....44

Canadian Angelman Syndrome Society………………………….....37

ABA – Applied Behavior Analysis…….46

Nina Foundation……………….....43

Potty Training Tips

By Keisha Tipton, Mom to Rylee age 9

Here is Rylee’s data form that I use.

When she stays dry for weeks on end I switch her to panties.

-I simply mark the date and time that I took her to the bathroom.

For traveling, I still use Pull-ups. There are times she can even wear panties overnight as long as she goes good before bed, doesn’t have too much to drink and has good seizure control.

When she starts having accidents it is a possibility that she is losing seizure control.

I hope this helps!

-Then I place a checkmark whether she went #1 or #2 in the potty.

-In the comments section I write whether her pull up was wet or dry.

Date

Time

#1

#2

Comments

Thank you Strider Bikes! www.striderbikes.com

WWW.ANGELMANTODAY.COM

January / February 2014

STRIDER is proud to support the special needs community by providing lightweight, fun, inclusive bikes

for kids of all abilities.

www.StriderBikes.com

Angels in Action Celebrating the Abilities of our Angels

By Keisha Tipton, Mom to Rylee, age 9

As a parent who has been injected into disability culture through a loved one, I feel we also have a separate and unique Angelman Syndrome culture.

Our Angelman family is accepting, supportive, and nonjudgmental; a culture that we are all proud of sharing with one another. Yes, we have trials and tribulations to overcome, but we are far from alone in this journey. We build each other up with words of encouragement and support.

Each family goes through our own experiences.

I’d like to take a moment to share with you our story. A story that is essentially just beginning because I see an optimistic future for Rylee; where, before, it hasn’t always looked so bright.

We all know those grim feelings upon that dreaded

diagnosis and the instant worries and fears we faced for our children. These feelings fuel my fire for creating every opportunity for Rylee to succeed in life despite the challenges she faces. I refuse to wallow in the sadness and grief. How can I when Rylee is the most forgiving, loving, and cheerful little girl? We have a life to live and I want her to experience it all to the greatest extent possible.

Communication is a hurdle all of our children face and without it, our lives are extremely limited. All of our kids have incredible and intelligent thoughts that are trapped inside.

dreaming so big, but I had to ignore and persevere.

When Rylee was seven, I decided to homeschool her because of my goals and aspirations for her life that weren’t being met in her previous school setting. I wanted an AAC system that allowed her to share her true thoughts and did not force her to communicate what the adults in her life wanted her to communicate. In my opinion it is not true communication when communication is forced in an unnatural environment.

“I want the world to hear Rylee’s thoughts and I know she wants to share them with the world.”

We are just breaking the tip of the iceberg with regard to communication, but just this is more than I could have ever imagined in those early days of her diagnosis. One of the most important things I did as Rylee’s mother was erasing the damage that “disability” label caused. Who was anyone to say what my child was capable of? So many people have thought I was crazy for

I wanted Rylee to learn to read and write as that would broaden her world even more in the realm of communication and knowledge. At the time, I was not certain exactly how to go about it, but I had to try and going about it alone was my only option.

I spent the first year primarily focusing on her first full language AAC system known as PODD with the help of others in our community. In other aspects to her education I was still stuck in that common special education mentality which required Rylee to prove she was learning instead of presuming it up front. I needed to see those check marks that I was taught were so important. I explicitly taught her lowercase letter sounds through a modified version of Discrete Trial Training.

While she was good at it, this approach was not empowering her as a learner. It was forcing her to prove her competence and constantly perform what I wanted her to perform.

I have since been introduced to a whole new perspective that aligns perfectly with my teaching philosophy.

I want to empower Rylee to be a thinker, a doer, and an active participant in her own life and education. Since homeschooling her and pulling her out of public schools, I have watched the most beautiful transformation in Rylee going from this passive, compliant, extrinsically motivated product of special education to someone whom is actively seeking new information and WWW.ANGELMANTODAY.COM

being intrinsically motivated to learn. I feel like she is seeing herself as a learner for the first time in her life because I shifted my focus on the messages I was sending to her.

I scrapped all behavioral approaches and replaced them with appropriate tools to bridge the gap from what her biology limits her from doing and what she needs to be doing. I removed all demands on her performance and began providing authentic experiences for her to learn and explore with these new tools.

The educators in charge of teaching our children only know what they have been taught through their own education which primarily focuses on those common behavioral approaches (I know because I’m currently obtaining my Masters in Special Education).

The only way we can change the face of special education and the way our children are taught is to lead by example.

I am not writing this to encourage anyone to pull their children out of public schools and start homeschooling. It is my goal in writing this to show that there are other perspectives to teaching our children and empowering them as individuals.

January / February 2014

Thank you!

A Big Thanks to all of the contributors that help bring you Angelman Today!

Contributors: Dr. Ronald Thibert Sybille Kraft Bellamy Keisha Tipton Shari Caspert Angela Humble Tucker All of the Angelman and Associated Foundations across the globe

Regie and Yolanda Hamm Betty Willemsen Mark Mautone, M.A. ABA Terry Jo V. Bichell, MPH, CNM and Parent Angelman Today Supporters: Sleep Safe Beds www.sleepsafebed.com Strider Bikes www.striderbikes.com

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.

A Cure for Louie

By Terry Jo V. Bichell, MPH, CNM (PhD candidate) Nashville, TN February 26, 2012 I learned, while traveling in Nigeria long ago, that the child who follows twins is supposed to bring luck, or be lucky, or carry some kind of amazing happy blessing. I remember thinking about that luckiness when I saw Louie’s squished newborn face, just after his cord was cut.

Louie was born in February, 1999, sweet, social and sleepless just like his big sisters. We didn’t learn until a year later, when we sought a reason for his inability to sit up and crawl and babble like all the other playgroup babies, that he was born without a crucial piece of my 15th chromosome. He was made from a good sperm and a bad egg.

Ironic, considering that the last two of his four older sisters had come from an egg so lucky, it split in half and made gorgeous, brilliant identical twins.

The egg that made Louie had a tiny chunk missing, while the sperm was perfectly intact. The lack of that little piece of maternal DNA, specifically the lack of one particular gene, Ube3a, causes Angelman syndrome. Since his diagnosis, I have dreamed of Ube3a, pondered Ube3a, cursed Ube3a and pleaded with Ube3a. Why did that little piece fall out? Was it my Fourth of July beer drinking in the month following his conception? Was it my bad behavior as a high school and college student? Was it a karmic curse for selfish decisions as a young adult? Was it because my parents’ neighborhood in Texas had been regularly sprayed with DDT? Was it because, as good Christians assured me unbidden, our family could uniquely handle a child with a severe disability, and we had been chosen for this task by a higher power?

It turns out that this section of the human genome is just a weak spot in our genetic code, a chunk that is prone to falling out, or rearranging itself .

These genes fall out before or during conception without regard to age, substance abuse, socio-economic status, race, ethnicity, religion or sexual preference. It is just bad luck.

When Louie was diagnosed with Angelman syndrome, we were told, with variable sensitivity, that he would have severe epilepsy and severe mental retardation, now referred to as an intellectual disability by “PeopleFirst” terminology. We were told that he might never walk, he might never eat normally or toilet-train, he would be hyperactive, sleepless and a danger to himself during the long sleepless nights. With good care, he would live a normal lifespan and, he would never speak a word. It seemed to my husband and me to be pretty bad luck.

Or was it? My husband is a pediatric heart surgeon, and his patients are babies born with only half a heart, or hearts with a missing piece, or a twisted section, or a mismatched middle. Usually, he fixes their enormous cardiac bad luck, and these delicate babies come out of the ICU to be pink and vibrant. They grow up and play sports and come back to visit and shake his hand.

I never doubted that there would also be a way to fix the missing piece of Louie’s DNA. Louie was lucky to be born a mere 2 years after brilliant scientists

Art Beaudet and Joe Wagstaff had identified maternal Ube3a as the source of Angelman syndrome.

They had also found that the normal companion gene on the paternal 15th chromosome, was turned off, as it is in everyone. All of us leave our father’s Ube3a to rest, using only our mother’s Ube3a to do what needs to be done. So, Louie was missing the Ube3a that I should have given him, and his father’s Ube3a was just sitting there, perfectly good, but dormant.

It seemed possible, plausible, to be able to get that paternal Ube3a off the couch and into the kitchen. All we needed to do was turn it on somehow, and maybe Louie would walk, eat, sleep well, and speak.

My husband and I used all our medical wherewithal to help the brilliant scientists move their ideas about awakening the paternal gene into clinical trials and real kids.

Despite all the best efforts, nothing worked. The paternal Ube3a stayed a snooze. I went back to school at the age of 50, to join the quest for the holy gene grail myself, as a PhD student in neuroscience, convinced that the cure lay almost visible, reachable, just over the next hump. And it was.

In an amazing stroke of good fortune, two young scientists, Ed Weeber in Florida and Ben Philpot in North Carolina, joined the fray and independently went to work on the problem.

In December 2011, right before the holidays, both published papers.

ANGEL ASSOCIAÇÃO SÍNDROME DE ANGELMAN DE PORTUGAL O SÍNDROME DE ANGELMAN, DESCOBERTO EM MEADOS DA DÉCADA DE 60 PELO DR. HARRY ANGELMAN, O PEDIATRA INGLÊS DE QUEM HERDOU O NOME, É UMA DOENÇA GENÉTICO-NEUROLÓGICA QUE SE ESTIMA QUE AFETE 1 EM CADA 15.000 NASCIDOS VIVOS. A CAUSA DESTE SÍNDROME É, NA MAIOR PARTE DOS CASOS, A AUSÊNCIA OU IMPERFEIÇÃO DO CROMOSSOMA 15 (REGIÃO Q 11-13) HERDADO DA MÃE. CARACTERIZA-SE, ENTRE OUTROS, PELO SEVERO ATRASO NO DESENVOLVIMENTO, DIFICULDADE NA FALA, DISTÚRBIOS NO SONO, CONVULSÕES, MOVIMENTOS DESCONEXOS E SORRISO FREQUENTE.

WWW.ANGEL.PT

CONTACTOS TLF. 96 8691906 91 6474909 96 6885700 91 2448103

(OPT) (TMN) (TMN) (VDF)

E-MAIL GERAL@ANGEL.PT WWW.FACEBOOK.COM/ ANGELMANPT

The gentleman in North Carolina had designed one of those simply beautiful experiments that I can now appreciate as a neuroscience student. He used dishes of cells from a genetically engineered mouse that would glow yellow only if the paternal Ube3a was turned on. Then, he poured a selection of 2000 known neuroactive medications and compounds onto the cells and waited to see which ones would glow. I imagine him grabbing the plate with one yellow well from a naive undergraduate student and shouting, “Eureka!”. Or maybe he simply figured it was a mistake and sent the poor beleaguered student back to the lab to repeat the experiment until he was convinced by the evidence. Amazingly, unexpectedly, one drug, a brain cancer drug, Topotecan, allowed the paternal Ube3a to activate, turning the cells yellow. Philpot had found a way to cure Angelman syndrome. The cure.

But what does it mean to cure a person with a developmental disability? Hasn’t the brain developed in an abnormal way? Many people with Angelman syndrome have microcephaly, small heads. Doesn’t that mean that their brains haven’t grown enough? Doesn’t that mean that the disorder is irreversible?

Not necessarily. It is a question of structure versus function. If the Angelman brain is built differently than the typical brain, then a cure might be farfetched. Whole neural pathways would have to be unwound and rewound, channels filled in and re-dug, branches built where none had reached before. Maybe not impossible to fix, but nigh.

On the other hand, if Angelman syndrome is a synaptic disease, and all the neurons are there but misconnecting, like diplomats WWW.ANGELMANTODAY.COM

without a translator, then maybe a cure could supply the missing ingredient and the neurons would jump into action. A few days before Philpot’s research came out just before Christmas 2011, Dr. Ed Weeber published a separate study on another strain of adult Angelman mice.

Weeber delivered the Ube3a gene into the brains of these mice and Angelman behaviors normalized. That’s right! Fullgrown mice with the mouse form of Angelman syndrome get better when you supply the gene they are missing. So, it isn’t structural. It’s synaptic!

Weeber showed that Angelman syndrome can be reversed, and Philpot found the drug that can reverse it. What luck!

Hold your breath. There is no way to know if the drug Philpot identified will improve Angelman symptoms in humans until we try it in humans. But, what all this means is that it is possible that sometime in the near future we could give Topotecan, or some other drug like it, to a kid with Angelman syndrome, maybe even a teenager, maybe even Louie, and reverse the symptoms.

What does that mean? Will Louie lean forward and say, “Pass the salt, please.”?

Will he run and jump? Will he dream?

Maybe he’ll tell us all the things that have been bothering him all this time, recount all the conversations we’ve had in front of him and the cusswords we’ve said to other drivers while he has been in the backseat, sweetly smiling.

Louie has lived 13 years in silence, coddled and catered to. Oh, we’ve worked him hard, taught him to sightread flashcards, and communicate a bit through signs and an iPAD. We’ve dragged him to swim classes and hippo therapy and every other technique that showed any promise.

He’s learned a lot all these years, but

what about all the lessons he’s missed, things he hasn’t learned or understood, playmates and friends he’s never had, sports he’s never played? Even in the most active and conscientious family, the life of an intellectually disabled non-verbal child is severely restricted.

Thankfully, smiling a lot and being happy is another well-known symptom of Angelman syndrome.

Will a “cure” cause Louie to be as anxious and crabby and irritable as the rest of us?

Does it matter? If Louie had been born with no legs, and a fantastic medical team had invented a form of artificial limbs that could be permanently implanted, we would have jumped to get him a pair.

If Louie had been born with half a heart, we would have sent him to a hotshot surgeon to manufacture the other half out of his own muscle and tissue.

If Louie had been born with the gene for Huntington’s disease and a drug was discovered that could stall the inexorable brain deterioration caused by the mutation, we wouldn’t hesitate to give it to him.

Strangely, people I know are having a very hard time with the idea of giving Louie a drug that might cure his mental retardation. Experts on developmental disabilities squirm, as if I am suggesting that we cure Louie’s ethnicity. Educators continue to insist, as they always have, that pushing Louie to learn academic skills is a waste of time.

Friends balk, assuming that a brain disorder can’t really be “cured”, and that I am living in a state of rosecolored denial.

January / February 2014

Other parents of children with Angelman syndrome take offense, stating that AS is not a ‘disease’, like diabetes or cancer. How not?

It is perfectly acceptable to speak about a cure for cancer, knowing that there might be lasting effects of tumors even when they have been removed and that strong chemotherapy drugs might cause terrible side-effects.

But it is very very controversial to speak about a cure for the mental retardation, or intellectual disability, of Angelman syndrome.

I have been told not to use the irresponsible word, “cure”. I have been told to say, instead, “very potent treatment”, because the word “cure” might lead naïve parents to assume that their children will actually jump up, play the piano or basketball, and get a driver’s license, and we don’t know what the drug will really do.

That is exactly the point. We don’t know what the drug might do.

It might let Louie’s synapses suddenly kick in, make connections faster, remember ideas better, retrieve knowledge, move muscles. And all of that might still not allow him to speak or stop his seizures, but it might allow him to “think stronger”, and perhaps that would be sufficient to call it a cure.

The brain is a part of our body, a simple organ. As anyone with treatable depression will tell you, treatment makes them feel more like themselves than they do when they are depressed..

A cure for depression would be a godsend. Angelman syndrome, like depression or alcoholism is a brain disorder It seems to me more irresponsible, more lazy, more selfish, NOT to talk about a cure for Angelman syndrome, and face the inevitable side-effects and disappointments that come along with any brain drugs.

We have to wind our minds around the idea that mental retardation, at least the kind caused by Angelman syndrome, might be cured. In our lifetimes.

We have to keep an open mind about what will happen in Louie’s mind when he gets the “very potent treatment”.

We have to continue to educate him as well as we can, in case he is building memory stores that can be unlocked someday. We have to expose him to as many social situations as we can, in case he can learn to communicate well some day. We have to prepare him to be cured.

Louie is not Angelman syndrome, he just has it, like other people have asthma or diabetes or alcoholism. He will still be Louie without Angelman syndrome, or with more controlled Angelman syndrome.

He will still be Louie if he is less intellectually disabled. And he will be incredibly lucky.

We’re here to help.

SleepSafe II® - Medium Bed with Padding and IV Accessories

SleepSafe II® - Medium Bed in Multi-Color

SleepSafe II® - Medium Bed in White

SleepSafe® - Low Bed

SleepSafer®- High Bed with one safety rail removed and one safety rail rotated down

SleepSafer®- High Bed offers the most safety protection with two removable safety rails.

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.

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 FDA Registered

866-852-2337

Here’s to a fantastic new year!

New resources at your fingertips The Angelman Syndrome Foundation offers valuable resources to families and caretakers of individuals with Angelman syndrome. Check out what’s new!

ASF Educational Webinar Series The ASF Educational Webinar Series provides you with the most up-to-date information about living with Angelman syndrome. The ASF invites experts to speak about topics that help families and caretakers improve quality of life for individuals with AS, addressing topics such as research updates, clinical developments, tips for everyday living and managing symptoms, and many more. The webinars also allow you to ask questions and interact with these experts, maximizing the value of your participation. The webinars are intended to be a key source of information and support, and we hope that you find this resource valuable in your journey with AS. To learn more and see the list of upcoming speakers, please click here.

Informational Series on Angelman Syndrome Behaviors The latest update to the Informational Series on Angelman Syndrome Behaviors, Neurologic and Medical Influences on Aggressive Behavior in Individuals with AS, addresses the complex relationship between aggressive behavior and management of the many medical issues that are commonly experienced by individuals with AS. Developed by Ron Thibert, D.O., a renowned expert on AS and a clinician at the Comprehensive Angelman Syndrome Clinic in Boston, this latest update explores how seizures, sleep, gastrointestinal and orthopedic health, and pain management affect aggression, and how these medical issues can increase or decrease aggressive behavior. Click here to access this update.

Rockville Centre St. Patrick’s Day Parade The ASF is incredibly honored to be chosen as the national charity to benefit for the 2014 Rockville Centre St. Patrick’s Day Parade! The Parade which takes place in Rockville Centre, New York on Long Island, raises funds at various events throughout the year leading up to St. Patrick’s Day, which are donated to three charities. The more who participate in these events, the more money will come back to the Angelman syndrome community! Mark your calendars for: • January 24, Our Taste Of Rockville Centre, St. Agnes Parish Center: a food and wine tasting event • March 16, CJ Coffee Shop Fundraiser, CJ’s Coffee Shop: you’ll be hard-pressed to find a better breakfast on Long Island!

• March 21, Grand Marshall Reception, RVC Links: a formal reception honoring Grand Marshall Sean O’Rourke • March 22, PARADE DAY! Commemorative Mass at St. Agnes Cathedral followed by the Parade down Maple Avenue

www.Angelman.org

(800) 432-6435

Int’l (630) 978-4245

info@angelman.org

Thank you for your support of the Angelman Syndrome Foundation. Your donation gives the gift of a better tomorrow to individuals with AS and their families.

Save the Date! Mark your calendars for the 2014 ASF National Walk on May 17th. There are 29 walk sites this year and we look forward to seeing you!

Did You Know?

Here Are Some Facts About The Human Brain The human brain is made up of about 75% water, which regulates various functions in the brain.

…………………………………………………………………..…….…

The human brain consumes the largest portion of the total energy that is generated in the human body. To be precise, the brain consumes 20% of that energy despite the fact that it only represents only 2% of the total body weight. The energy is vital for maintaining healthy brain cells and fueling nerve impulses.

…………………………………………………………………….……..

…………………………………………………………………………….

The human brain is regarded as the fattest organ in the human body. About 60% of the human brain is comprised of fat which is the highest concentration of fat that is present in a single organ in a healthy human being.

The Myelin Sheath is a protective covering on the nerves in the brain Myelin is 75 percent fats and cholesterol, and it is 25 percent protein. In theory, increasing essential fatty acids provides the body with the building blocks it needs to build and repair myelin as indicated by the University of Michigan Health System website.

Therapeutic Diets Fat Ratio

KNOWING THESE FACTS, WHAT CAN WE DO? -DRINK PLENTY OF WATER (BETWEEN 6-8 CUPS A DAY) -ADD HEALTHY FATS TO EVERY MEAL

LGIT – 60% fats Keto – 80% fats Mod. Atkins – 75% fats *Medical Diets to be monitored by Physicians only.

Olives

Olive Oil

Avocado

Coconut

Almonds

Other healthy fats: Grass Fed Real Butter, Duck fat, Red Palm Oil, Fish Oil, Organic Free Range Eggs.

In the Movie Lorenzo’s Oil, based on a true story of two parents in a relentless search for a cure for their son Lorenzo’s Adrenoleukodystrophy (ALD), a heterogeneous disease, which can be fatal. Despite research dead ends and the horror of watching their son’s declining health, they persisted until they finally hit upon a therapy involving adding a certain kind of oil (actually containing two specific long chain fatty acids, isolated from rapeseed [canola oil] oil and olive oil.

It proved successful in normalizing the accumulation of the long chain fatty acids in the brain, thereby halting the progression of the disease. Myelin.org & Available to rent on Netflix.com WWW.ANGELMANTODAY.COM

January / February 2014

Welcome our new Board members Please join the Angelman Syndrome Foundation in welcoming two fathers to individuals with AS to the Board of Directors

Tim Bousum Justin Grill Justin Grill is a board-certified emergency medicine physician and covers three emergency rooms for Emergency Health Partners along Michigan’s Lake Michigan shore, and was recently appointed as Assistant Director of Medical Education for Mercy Health. A public speaker and expert regarding emergency issues with individuals with Angelman syndrome, Justin and his wife, Carrie, are parents to four-year-old Noah, who is diagnosed with Angelman syndrome, and his siblings, two-year-old Daniel and 10-monthold Hannah. The Grill family has been involved with the ASF since Noah’s diagnosis in 2011, and has held fundraisers in their hometown of Spring Lake, Mich. Says Justin, “As a parent and a physician, I have a keen interest in Angelman syndrome research and in supporting innovative projects that bring treatments to individuals with Angelman syndrome. Education is also a major component of my medical practice so I also have an interest in how we can best educate parents and caregivers of individuals with Angelman syndrome and the general community, and I hope to use my skills in these areas to further support the Angelman syndrome community.”

www.Angelman.org

(800) 432-6435

Tim Bousum works in specialty sales with AstraZeneca Pharmaceuticals. He and his wife, Maiya Dos, an architect with TriPyramid Structures, have two children: six-year-old Cooper, and three-year-old Bode, who was diagnosed with Angelman syndrome in 2011.

Residents of Ipswich, Mass., the Bousum family are active supporters of the ASF, and have raised more than $45,000 during the last three years for the ASF National Walk site in Boston.

Says Tim, “By joining the Board of Directors, I hope to further raise awareness of Angelman syndrome in our communities and contribute to the vision of improving the lives of our loved ones with Angelman syndrome. I have seen first hand what this organization can do—from opening Angelman syndrome clinics at major teaching hospitals, to the Biennial Conferences that balance research, medical care, science and day-to-day living strategies at the family level, to funding groundbreaking research, the ASF is making a difference in the lives of our loved ones with Angelman syndrome.”

Int’l (630) 978-4245

info@angelman.org

The History of Angelman Syndrome Dr. Harry Angelman was an English physician who identified what is now known as Angelman Syndrome.

Dr. Angelman was born in Birkenhead, England.

He was an enthusiast for the language and country of Italy.

He first observed three children who were unrelated but showed similar symptoms of severe intellectual delay, stiff, jerky gait, lack of speech, seizures, motor disorders and happy demeanors.

Then, while vacationing in Italy, he observed an oil painting called… A Boy with a Puppet by the renaissance artist Giovanni Francesco Caroto at the Castelvecchio museum in Verona.

Reminded of the children, Dr. Angelman published a paper in 1965 that described what he called “puppet children”. At this time, his paper was not immediately recognized as important .

It wasn’t until 1982, when Charles A. Williams and Jaime L. Frias of the department of Pediatrics, Division of Genetics, University of Florida College of Medicine, Gainesville submitted a paper to the American Journal of Medical Genetics reporting studies of six patients and comparing their data to those from previous reports - severe developmental delay, “puppet-like” gait, craniofacial abnormalities, and frequent episodes of laughter that it became clear the syndrome was more common than previously thought. They proposed the name of this disorder be changed to Angelman Syndrome.

Dr. Harry Angelman 1915 – 1996

Reasons for choosing FEBRUARY 15th: The number 15 relates to the affected 15th chromosome.

February is International Rare Disease month. (RDD falls on Feb 28/29th)

Background: As we all prepare for a new start in 2014, ideas and plans are being generated by individual organizations around the world, to celebrate International Angelman Day—our community's global day of awareness. This young initiative is the result of a ‘virtual ‘group of organizations; an informal ‘collective’ that demonstrates a spirit of global unity and collaborative support.

Through 2012, national reps were gathered from around the world for this collective. 23 organizations voted for a suitable date and logo, and by the time the inaugural day arrived, 35 organizations were on board. The number involved continues to grow and networking now occurs frequently and fluidly between more organizations, support groups, parents, medical experts and researchers.

It is also quite sweet and appropriate that it is so close to Valentine’s Day, because the affectionate demeanour so characteristic of this syndrome, displays such genuine, unconditional love.

Link to world map showing the 35 Organizations that participated in IAD 2013

Organizations are invited to work together for our common cause: together we have a stronger voice; together we have more resources to share; together we can accelerate AS research. International Angelman Day reflects this camaraderie and promotes all that is Angelman Syndrome—the bad side and the good. It serves to generate much needed funds, strengthen ties across borders, and open doors to future collaborations within our AS community.

A WEBSITE is being constructed and will be launched soon. Stay updated by visiting the official IAD facebook PAGE:

The purpose of INTERNATIONAL ANGELMAN DAY is to:

h t t ps : / / w w w . f ac e b o o k. c o m/ InternationalAngelmanDay

Raise awareness worldwide of the condition Mobilise people to action & encourage fundraising for the organisation/s in each country  Promote research and educational resources in each country  Remember those people with Angelman Syndrome who are no longer with us Things you can do for International Angelman Day: Raise awareness:  Spread the word about AS in your own community—at schools, churches, workplaces, sports/social groups, “Anything anyone can etc. Hold fun events that could generate media interest. do to raise awareness is  Contact your local papers to report on your events. greatly appreciated.  Display the logo on T-shirts, button badges, caps, etc.  Hand out informative brochures about your own local AS No gesture too small. organisations and support groups.

No such thing as the Fundraise: insignificant  Raise funds for a registered organisation you wish to support—for AS research or education resources. word or deed.”  Be vigilant with good fundraising ethics to protect the - Colin Farrell honour of this venture.  

++++++++ Share ideas and discussions in the informal facebook GROUP : h t t ps : / / w w w . f ac e b o o k. c o m/ groups/112026595597947/ +++++++ An up-to-date list of Angelman Organisations and support groups around the world can be found here: angelmannetwork.internationalnetworks/ +++++++ International Angelman Day is also a multi-cultural event that celebrates our diversity as it seeks to promote unity across the global AS community.

Otorcross

www.angelmannetwork.com

Fundraising — and other side-effects All support organizations have their own formal set of aims and objectives, programmes and plans — and all require funds to action them.

Fundraising involves time and effort, which has the potential to lead to more stress. However It is often intriguing and sometimes uncanny, how a good fundraiser is able to generate many other spin-offs that are often unexpected but ultimately positive for all involved.

In New Zealand, our population is just under 4.5million. It has become a cliché to say that the ‘six degrees of separation’ that supposedly connect every human being on the planet are reduced to two in ‘Godzone’. Most of us have either met the Prime Minister, know an All Black, or have a friend or family member who knows a NZ ‘celebrity’. This works to our advantage when raising national awareness about AS. In this vein, The Angelman Network is fortunate to have many enthusiastic families across the country who have initiated a variety of very successful, enjoyable and different fundraisers: all with a Kiwi flavour and wonderful ‘side-effects’. Apart from the funds raised, they have served to distribute our AS information, raise awareness, encourage local community support, generate a wider public interest in AS and strengthen our networks. In time, this positive ripple effect will filter back to create helpful changes for our angels and families, nation wide.

Our first IAD event triggered some creative celebratory initiatives that

involved angel-mufti days at schools and workplaces, a formal movie night, market stalls, raffles, and Trademe auctions. Families were very proactive with the media, resulting in eight newspaper articles that reached out to thousands of readers across the country.

Angel Kaya with donated goods

In March, Nadine Henderson facilitated a hugely successful Charity Auction at her work’s annual conference. This brought in over $30K and spread awareness across Assurity’s nation-wide offices, as well as to all the various businesses who had kindly donated goods.

Laura Green’s family live on a large farm in a rural district. They love the outdoors and Motorcross and their unique Racing event for adults and children in honour of their angel, Lexy, was extremely well supported.

With an entry fee, refreshments and raffles for sale, it was a memorable family day that strengthened ties within their local community.

Kathryn Cherie-Hope was inspired to organise a 15km Walkathon in her local district. It was a well received social event that also promoted this powerful message:

“We have chosen a 15 km walk because it is the 15th chromosome that is affected in AS; but also to symbolise the difficulty and length of time it takes our AS children to learn to walk, and the strength and determination it takes to get there.”

- Kathryn Cherie-Hope

Kathryn with angel Joel

Kathryn’s informative article which appeared in a local newspaper and online, and was recently spotted by Attitude TV who are interested in an interview in the New Year—an opportunity to share her story as an angel-mum, with the nation.

Looking back at 2013, it is very encouraging to see how much groundwork has been covered in diverse social sectors, through these family fundraising endeavours; and we thank our families for that. We will soon be depositing the takings from our Christmas Collection Buckets - a very fruitful Shopping Mall fundraiser made possible by Neil and Louise Alcock.

On track with achieving our aims and objectives, 2014 is the year The Angelman Network proposes to focus on a pro-active plan for our involvement in AS Research.

‘Hope reigns Supreme’.

[Ursula Cranmer, Chairperson ]

The Gift of Helplessness

A touching story by Karen De La Fuente

There was a Meeting in Heaven.

Several angels and other souls were present, along with the usual Council members. It was time to prepare some souls for their journeys on Earth. Several Council members spoke about various topics, in hopes that these unique souls would truly grasp the missions that they were about to undertake.

“When you first emerge in your physical form, you will still feel very connected to This Side; which, ironically they call the Other Side.” (A low chuckle ran through the room.) “As time goes by – and it goes by very differently from the way it passes here – you will find that the fine line between Here and There becomes thicker, harder to penetrate. Your memory of this time and this place will grow dim, until it becomes merely a notion that you actually “belong” somewhere else – somewhere better. This happens to all souls that inhabit physical bodies. You won't even notice it happening.”

“But, in your cases, there will be a difference. Because of the extraordinary lives that you will live, the fine line won't be quite as thick as it is for most humans. You will much more easily maintain contact with angels and spirit beings, and This Side. There is a reason for this – not only will your needs be different during your lifetimes, but your missions there are unique, as well. Hence, the blessing of never feeling completely out of touch with True Reality. Most humans end up believing that Earth life is Reality. In fact, This Side is Reality – Earth life is Fiction. You, the few, will be able to recall this when your lives are difficult, and your trials numerous. This blessing, we grant unto you all.”

As the meeting wore on, the time eventually came for each soul to receive a Personal Blessing before departing the vast Glory they knew so well, for the unknown and untried territory of Earth life. One by one, they sat in the Seat of Blessing, and received the Gifts that that would help them most in life. They understood that this happens to all souls – but that their Gifts would be unique and enhanced – magnified, if you will.

Finally, there was one soul left to bless, and send on his way. Three angels who were magnificent beyond description stood behind the Seat of Blessing, and gestured to the soul, who approached with humility and grace. He was so excited to be on his way to Earth life, and the experiences that awaited him there! He sat humbly in the Seat, and bowed his head slightly, as he felt the angels lay their hands upon his head – the Chief Angel among them speaking in a deep, gentle, yet powerful voice.

The angel continued.

“You shall be called Jonathan, which means 'Gift from God.' To this family, you will be truly a gift of the Most High. Your mother has been told that she is barren – can have no children ever. You will be a miracle to her, and to your father - who chose your name when he was still a boy, in anticipation of a son to carry on his name. They will rejoice at your birth, and you will feel that joy.

As time passes, your parents will realize that you are very different from the son they were expecting to have. Beautiful, yes. Very special to them, yes. You shall grow and be joyful, but you shall not carry on your father's name. You will not walk. You will not speak. No matter how many Earth years pass, you will remain a virtual babe in arms.

“I give you the Gift of Helplessness.”

The soul wondered to himself, “the Gift of Helplessness? What kind of Gift is that? I saw others receiving much better Gifts!”

“This Gift with which I endow you is mysterious and poorly understood. You are aware of the Contract that you have affirmed; that you would be born with special needs not common to most humans. You have agreed to enter Earth life in this state, with all of the accompanying trials and virtues that it entails. The Gift of Helplessness is one of the greatest Gifts. While you are unable to become independent, or live what they consider a normal life, you will be giving of yourself at all times. Your Helplessness will aid not only your family, but also everyone you meet, in giving them an opportunity to grow and develop far beyond the scope they can imagine. Your Gift will allow others to choose to assist you, and in so doing, learn extraordinary lessons that are hidden to most humans. They will learn what is truly important. They will learn how to give service unconditionally.

They will learn Sacrifice in ways that others can only dream of. These priceless lessons come through your Gift of Helplessness, and the sacrifice that you are making in trusting them to see to your every need; just as all do, in infancy.

“Along with the Gift of Helplessness, I endow you with Joy. Joy in the smallest of things. Joy in living an Earth life devoid of worry, stress, temptations of the flesh, crises of faith, and fear. You cannot begin to understand what it means to feel fear – and you will never, ever have to.

“It gives me joy beyond measure to give you your final Gift.

This Gift is given to a very select few who inhabit the Earth.

I now bestow upon you the Gift of Returning to Glory – guaranteed. Your Gift of Helplessness assures that you will return Home, to This Side, no matter how long or short your Earth life is, no matter what occurs during that lifetime, no matter what your circumstances may be while you are there.

You shall return whole, complete, unscarred, and unsoiled from sin or error.”

Jonathan felt the angel grin broadly, even though he could not see him.

He also felt a warmth and peace the likes of which he had never known. Gone was his confusion about his Gifts. Gone was his concern about whether or not he really could live up to his Life Contract. He knew – knew – that he would take these Gifts and give his parents, their family, their friends, and even strangers to them, everything he could to help them achieve the highest level of Life possible.

Just as the angels lifted their hands from his head, and he opened his eyes, a smaller, more feminine soul approached him. His best friend on This Side!

How did she come to be here, at the end of the Meeting? Well, no matter!

He rushed into her arms for a hug, filled with excitement about entering his time on Earth.

As they embraced, the angel spoke one more time.

“We have noticed that you and this wise soul have spent much time together here, in love and devotion. She has affirmed her Life Contract recently, as well, and will be departing in about two Earth years' time for life on Earth, as well.” They exchanged huge grins of shared joy at the news.

“Jonathan, meet your sister. At her request, she has Contracted to watch over you and be your Earth life companion. She will help you in your journey on Earth. This, she does willingly and gleefully.”

Jonathan and his soon-to-be sister hugged each other tightly, and jumped up and down with excitement. Oh! To share his Earth time with his best friend! Surely, she would make his sacrifices easier to bear, his lonely silences ring with laughter, and his times of desperation seem like mere moments.

The angel touched Jonathan on the shoulder, and his best friend released him from her embrace.

“It is time.”

Angels in Action Celebrating the Abilities of our Angels

By Angela Humble Tucker, Mom to Lukas age 15 are left with many tough choices and those choices are greatly impacted further when you have a child with a disability. We made a decision on June 23rd to take away our sons wheelchair and just encourage him to walk and not rely on this chair any longer. At this time he was only able to walk about 20 steps before needing to rest.

It’s hard to believe that we have a 15 year old son. Our son does not do all the typical things that a 15 year old would be doing such as video games, hanging out with friends, talking on the phone (or I guess texting), or competing in High School sports. Instead we have a 15 year old boy who has Angelman Syndrome which brings with it limitations such as non-verbal, limited mobility, cognitive delays, and more issues that would take up too much space to list.

Our 15 year old boy Lukas however smiles more than a typical 15 year old boy! Lukas is a 10th grader at Shakopee High School and is a brother to a one year old Brody.

Lukas enjoys people, being out in the community (everyone knows his name), and has a hug desire to help others. Overall he is a great kid who has been dealt with many challenges.

Our lives changed greatly June 23rd 2006 in more ways that I can express at this time. As parents we

Back in 2005 our son Lukas had surgery to release the tendons in the back of his legs in an effort to get him walking. Lukas had never walked despite efforts of Botox, therapy, and encouragement. This was essential our one shot at getting him up and about. With the success of the surgery and lots of hard work we decided to just take away the chair and never look back. As parents I think we can say we got this one right!! Our 8 year old boy at the time learned to experience life in a whole new way.

It was not an easy road to get Lukas to walk successfully there have been many bumps, bruises and arguments along the way. In 2008 we begin to get Lukas involved in as many activities that we could find to keep him moving and motivated. He started to play for the West Metro Miracle League baseball. What a great opportunity for him to interact with others and to learn to be active.

I remember the first couple of years Lukas played baseball once he made it to home base he looked at the crowd and clapped his hands as in a

way for him to communicate to the fans to cheer for him. The first few years it would take him a while to get around the bases. Now with some encouragement we can get a little run out of him. Lukas has been playing for the Miracle League for the last six years. He can now hit the ball without a tee. I highly recommend this program if you have one in your neighborhood it’s been life changing for Lukas.

A few years ago I signed Lukas up for soccer through the adaptive soccer program at the school district and he played for one year. There were too many rules for Lukas to play in the program. After working with our local soccer association we found out that Minnesota has a Top Soccer program for kids with different disabilities. Top Soccer does not have as many rules and different activities to meet the needs for each player. The soccer association and I brought this to our city and Lukas is now a soccer player as well. He has been playing soccer for the last 3 years.

Lukas also participates in Special Olympics bowling and bocce ball.

Lukas especially enjoys the bowling and has his own Chicago Bears bowling ball!

For Lukas these sports programs are keeping him connected in the community and making friends. As parents it’s about those same things however; we are trying to ensure that he is staying activity and on his feet.

When Lukas is not playing a sport you can often find him at a local high school game such as basketball or football. Lukas enjoys watching as much as he participates. He currently has created a great relationship with the High School girls’ basketball team. They are all so thrilled to have Lukas at the game and they make the effort to come say hi to him at each game. Attending these different games for Lukas is another way for him to be connected with classmates, teachers, and community members.

Lukas is also attends the local STARS club which is an opportunity for teens in with disabilities to “hang” out in the community with their peers. Lukas loves and looks forward to each of these events. Needless to say we are very busy taking Lukas to and from different activities but I really wouldn’t have it any other way!

Lukas has made us very proud to see how much he has accomplished over the years in his ability to walk (we are almost at a good run). He is able to interact in so many different ways than when he was in a wheelchair. There is always the concern with the doctors and us that one day Lukas will get too tall and will again need WWW.ANGELMANTODAY.COM

the wheelchair so at this time we are grabbing at every opportunity to keep him active.

As a non-verbal kid this brings about so many challenges, questions, and behaviors. Lukas has his own language that we as parents can understand most of the time. Communicating to the outside world is much more difficult. In hopes to close that gap we have Lukas use an IPad for communication. He is currently using the MyTalk app and is pretty successful for the most part.

Anytime you have a device speak for you your language is limited.

What is great about the MyTalk app is that we customize this for Lukas with his pictures, favorite things, what he does in school, and etc. The IPad for him is much more portable now that he is not in a wheelchair. Lukas is motivated by electronics so this was a good choice for us. I tend to find the biggest challenge for Lukas is when others don’t know how to use the app or know that the app is there. This creates frustrations and behaviors for Lukas.

Lukas can also communicate using some sign language and by answering yes or no questions. In 2010 Lukas finally spoke his first work which was Mama. Trust me when I say this completely melted my heart and I still love to hear it even if it’s a thousand times a day. Lukas continues to go to speech therapy. Often times I’m at a loss with communicating with Lukas. It’s just breaks my heart when he is sick and just can’t communicate to me what is wrong. Or holidays and birthdays when he can’t communicate a present that he would like. I do worry about the future and Lukas’ communication needs when we are not around. Having a child with Angelman Syndrome or a disability is not something I imaged in my life.

There are so many struggles that come with journey we are on. The struggles are truly only known by those who have

or are walking in our shoes. The older Lukas gets the harder the struggles seem to be. It’s amazing to me how much before Lukas we took for granted. Now we treasure every moment big or small and are so thankful for what he can do! We are so very blessed to have this sweet boy (teenager) in our lives to show us the little blessings that we would have probably just taken for granted.

January / February 2014

We help children and their families access the stoke of surf culture, and aspire to create a can-do environment in a world full of limitations.

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

www.therasurf.org

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

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

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

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

Aromatherapy and Angels

By Shari Caspert Mom of 17 year old Matthew

Sleep and Stress Management: using Essential Oils for Angels, Teachers, Caretakers and “You”!

I was introduced to Young Living Essential Oils three years ago by another special needs Mom, our son Matthew was 14 at the time…

I really had no experience with essential oils, or aromatherapy.

I always thought that we lived a pretty healthy life style, ate well, exercised & tried to get a good nights sleep - tricky with our Angelman Kids!

We are now a family that lives on Stress Away, Deep Relief, Lavender, Peace & Calming, Frankincense, Lemon, Thieves, Ningxia, Peppermint and more..

This is my everyday survival kit!!!

I am sure that you are wondering, How can this help me?

A little cautious, I began our journey... my first move was to rid toxic chemicals out of Matthews environment...No more Purell, Antibacterial soaps, toxic cleaning products, shampoo or toothpaste. I had no idea that these everyday items were compromising Matthew’s life, disrupting hormones and causing inflammation in his already busy body, gut and brain.

What’s in your Environment?

I replaced everything in our home with “Thieves” , a blend of Clove, Cinnamon, Eucalyptus, Rosemary &

Lemon oil. You can’t control every environment our Angels are in but I continued with Matthew’s school, where he spends 6 hours a day.

There he works on Adult Daily Living skills so I provide his own special, non toxic ADL kit Thieves hand sanitizer, foaming soap, toothpaste, Ningxia (an antioxidant drink). No more Triclosan, anti bacterial products, boxed fruit juices and other products loaded with harmful chemicals.

My next step was to diffuse and topically apply different oils.

(Therapeutic grade only. You must be very careful where you get them from). Not all essential oils actually contain therapeutic and healing properties. Many oils/lotions found at general health food stores contain additives or chemicals and may contain plant lifeblood to some degree, but they have not been processed in a way to guarantee therapeutic constituencies that can heal. That’s why it is important to know how the oil is processed and what claims can be made for using it.

I started with the basics, Lavender. I started diffusing Lavender in Matthew’s room every night, an hour before he went to bed, and he slept, so did we! This has helped to reduce stress for all of us. If you are wondering, the fun cool air diffuser with the light and steam (see photo above) does not remain unattended in his room!

Too much fun for sure! I also put a few drops of Lavender in his Epsom salt bath, and on his pillow so it diffuses all night.

Lavender has helped us to Relax, Stay Calm, Breathe and Heal.

Our next oil was Peace and Calming. The name alone hooked me. This is a blend of tangerine, orange, blue tansy, pachouli & ylang ylang. The sense of smell is a powerful one and this helps with anxiety, behavior and to take the edge off us all. Much to our surprise this started to help not only Matthew, but his bus aides, personal aide and our family.

I apply Thieves on his/our feet everyday. For those of you into reflexology there are incredible benefits, a conversation for another day...I like applying this with a roller cap as I have to be fast with him as he is always on the move! I diffuse & spray Thieves to kill any airborne mold spores and germs. No one got sick last year!!!

Next, I changed Matthews drinks. Who knew that Pediasure wasn’t the “best” ever, as per his pediatrician? He now drinks Young Living’s, Ningxia Red, containing Wolfberry’s, Lemon, Orange, and numerous oils...This has helped his immune system and helps to support his digestive health.

The greatest surprise of all is that we started on this Holistic journey for Matthew and it has changed our entire home, how we live, how we reduce our stress levels and deal with aches & pains.

At 17, you realize that there is no magic answer, but a combination of strategies that will help your Angel, families and caregivers. Aromatherapy, removing toxins, changing Matthew’s diet and replacing our medicine cabinet with plant based products has significantly changed our lives. I now help educate other special needs families.

We learn from each other how to help balance our lives both physically & emotionally.

Wishing you a Happy and Healthy 2014!! www.YLivewell.com

Quick tips: Purification -Diffuse and spray in your home, car, office rather than toxic air fresheners like glade, kills petrochemicals in the air.

Peppermint.. helps with digestion, headaches, extreme heat.....to name a few Look for my tips in your next Angelman Today!

WWW.ANGELMANTODAY.COM

January / February 2014

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 social gatherings 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.

Chocolate Hemp Milk (Excellent alternative to dairy for those with allergy, sensitivity and congestion.)

One cup of hemp seeds1/2 cup of filter water, I use green tea.

2 drops of vanilla stevia One drop of vanilla flavor

Blend everything in a food processor for a couple of minutes.

Filter or not in a cheesecloth. I keep the hemp seeds for later I mix them with yogurt or in his soup or with vegetables.

One 1/2 tsp of organic raw cocoa unsweetened.

About 1.5 carbs.

One tsp of coconut oil.

Mix everything together.

Enjoy !

WWW.ANGELMANTODAY.COM

January / February 2014

90% Improvement in Seizures My interview with Dr. Ron Thibert from my blog in December 2012.

I recently had the opportunity to catch up with the Angelman communities very own trusted Neurologists Dr. Ron Thibert!

He is the Co-Director of the Angelman Syndrome Clinic at MassGeneral Hospital for Children in Boston. His specialties include Neurology and Epilepsy Service.

Many families in our community travel from many other states just to see him. He really understand how to provide the best treatment for our kids! Angelman Syndrome is so rare and when it comes to their brain and seizures, our kids need the best! They need someone who has experience to draw from when deciding the best treatments and medications.

Posted here is a YouTube video of Dr. Thibert in an interview talking about seizures in individuals with Angelman Syndrome and effective Nutritional therapies like Low Glycemic Index treatment (LGIT) and the Ketogenic diet. Dr. Thibert has been a long time supporter of dietary therapies in controlling seizures. He has seen the proof in EEG reports for many of his patients. In fact, in one of my earlier posts entitle Stop Seizures with 3 Nutritional Therapies I shared with you the story of young Jace who has not had a seizure but shares in the typical AS abnormal EEG, showed improvement after beginning the GFCF diet. His mom told me he is now considered to have a "Normal" EEG! That's Fantastic!

Dr. Thibert and his team including Dr. Elizabeth Thiele (both are members of the Scientific Advisory Commity for the Angelman Syndrome Foundation) and Heidi Pfeifer RD, LD Nutritionist were able to launch a clinical study to determine the efficacy of the Low Glycemic Index Treatment in reducing seizures in individuals with Angelman Syndrome. In July 2012 the results were in and published in Epilepsia and on the Angelman Syndrome newsletter .

"The results were better than we had expected" said Dr. Thibert. 80% reduction in seizures and 90% reduction after 1 year and ALL experienced no significant adverse effects! "5 of the 6 individuals remained on the diet" said Thibert.

WWW.ANGELMANTODAY.COM

I asked Dr. Thibert who would be the best candidate for this dietary therapy?

He said "Anyone with 1 failed antiepileptic medication".

How does one get their child on the program?

"Patients may come and see me for an initial visit, we can run the necessary tests to monitor medication and a few other things, and they can consult with our dietician Heidi Pfeifer or transfer to a local dietitian closer to them. Food Allergies will be tested. Then see me on a yearly basis. Labs should be monitored every 3 months, which include Electrolytes, Cholesterol, Liver panel, Carnitine, and Vitamin D".

My son is on the Gluten, Free Dairy Free diet, how does that compare to LGIT? "They are actually quite similar, when you take out the gluten your are removing a large portion of the carbs like pasta and bread which will lower your glycemic index. The LGIT consists of high fats and meats and cheese are staples of the diet."

Once the individual is on the diet, how long before you can see results?

"It may take a few months to kick in. The diet must be consistent and limit carbs to 40-60 grams per day."

Who would not be a good candidate for this diet?

"It is not recommended for those on a GTube. Another option for them would be the Ketogenic diet. There is a product called KetoCal and it can be used to assist with the ketogenic diet."

January / February 2014

Why don't more doctors suggest dietary therapy as a first and safe option for seizure treatment?

"My guess is lack of awareness and maybe they do not want to change what they have always done, which is prescribe medication, the evidence is there to support dietary therapy. We are looking into preparing a package of material to help educate other dietitians".

Another person who is willing to help is Angel Mamma Sybille Bellamy. She has created a facebook page dedicated to what she is calling the Angelman Syndrome Diet. She shares the recipes she uses for her son Max who has been on the diet for years. She also shares important dietary info and articles.

For an example, Sybille has listed a meal plan of 1 day for Max on LGIT.

Here is the publication available on PubMed. Dr. Thibert is hopeful that this information will get out into our community and more people will use the Low Glycemic Index Treatment to reduce seizures. 80-90% reduction is astonishing! In my humble opinion, if your child with Angelman Syndrome or any seizure condition for that matter is still having seizures, you should try this diet!!

It breaks my heart every time I hear of someone in the hospital with suffering with seizures. We see the same thing every time... Doctor's don't know the cause, they check levels of medication in the body or do an EEG and in the end they just prescribe more medicine. Been there, done that too many times with Nathan! It wasn't until I took his diet into my own hands, armed with the right information an excellent team of physicians that understand the importance of diet and made it happen!! You can too! Dr. Thibert is willing to help each and every one of you!

Contact: Dr. Thibert Office Phone: 617-726-6540 Pediatric Epilepsy Program, 175 Cambridge Street, Suite 340 Boston, MA 02114-2796

Morning breakfast: 2 tbs steel cut oatmeal cook in coconut cream. 1 table spoon of manna coconut 1tbs of coconut oil 1tbs of mix seeds-hemp, chia, sesame, flax seeds and 1 tbs of walnut butter.

Drink is herbal tea with coconut oil.

At school Max drinks herbal tea with MCT and a lot of water with lemon juice.

Lunch: 3 tbs of sheep yogurt, 2 tbs of grated apple, 1 tsp grated carrot, 1/2 avocado, 1tbs almond butter, 1tsp of MCT. Nurse give him MCT (medium chain triglyceridearound) 2 pm 5ml at school.

Afternoon snack: home made almond milk, 1tsp coconut flour, cinnamon and 4 strawberries.

Dinner: Vegetable soup- kale, spinach, carrots, onions, with one egg, grass fed butter, goat cheese.

He likes to drink before bed- coconut milk with 1/2 tsp of coconut flour. Max drinks a lot of water.

I hope you find this info helpful on your journey of helping your loved ones achieve the healthiest lives possible. We may not yet have a cure for AS, but we have these therapeutic diets to help us against life threatening seizures.

ASK DR. THIBERT Does your Angel have seizures?

Are you interested in starting the LGIT, but have some questions?

Here is your chance to get those questions answered. In the next edition of Angelman Today, Dr. Thibert will answer your questions about the Low Glycemic Index Treatment.

There are a few ways you can participate; Email your question to contact@angelmantoday.com Write on our Facebook page or Tag @angelmantoday on Twitter #AskdrT

Tel.: 670 90 90 07 info@angelman-asa.org 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 syndrome.

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,

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 the exchange and sharing of information, as well as collaboration in all the different fields.

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 Torrej贸n de Ardoz (Madrid). During these encounters, we organise leisure 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 experiences among parents and keeping in contact with caregivers and medical professionals in the Angelman Syndrome.

This year we have hosted Dr. Weeber and also Dr. Mayor.

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.

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 year’s time.

2.- Handmade product selling produced by the mothers members 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 February on the occasion of the International Angelman Syndrome Day, where the raised funds were enterely donated to the FAST (Foundation for Angelman Syndrome Therapeutics).

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 Weeber’s 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.

Main events 2012 and 2013

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, psychomotor specialists, special education teachers, etc.) to help them with how to deal with the management of children affected with this syndrome.

The Board of Directors and the Community Relations Committee of CASS are pleased to advise that the Registration Booklet for the 13th International Conference of the Canadian Angelman Syndrome Society, "Unlocking the Possibilities" is now available.

Conference Committee Co-chairs, Tim Klein and Chris du Plessis look forward to welcoming delegates to Ottawa from 23 to 25 July 2014 to hear presentations from an outstanding slate of speakers.

For more information visit http://www.angelmancanada.org/conferences/ See you in Ottawa!

WWW.ANGELMANTODAY.COM

January / February 2014

Angelman Syndrome and Sleeping Disorder

By Sybille Kraft Bellamy Angelman syndrome children and adults have serious sleeping disorders. Apart from seizures problems it is one of the most difficult aspect of the syndrome to live with.

Some angels sleep only a couple of hours a night, some fall asleep easily but wake up very early and some fall asleep very late and sleep late in the morning.

This can disturb the school schedule or therapy sessions and it is exhausting physically and psychologically for the parents and caretakers.

The majority of angels, do not take naps and when they fall asleep it is usually late in the afternoon which disturbs the usual sleep pattern. In order to increase the chance for our angels to fall asleep at a normal time, it is very important to keep them physically active and intellectually stimulated during the day.

For Max , del+ 12 years old, we have a very strict schedule.

During the week we wake him up everyday at the same time.

After that, he has breakfast and takes the bus to school. His schedule at school is very full.

They rotate all the typical therapies (OT, PT, speech therapy) all day and he is physically engaged, either standing or walking throughout the day.

When he gets home from school

He has a meal, playtime or therapy, and an early dinner.

After that, he takes an Epsom salt bath with dead-sea salt. just before going to bed he has another meal.

“Go to sleep little baby” I believe our children are very sensitive to our mood and they can very easily detect our emotions. It is very important to be calm and quiet when we put

Keep the room temperature low at 64 degree F. If your child pushes away blankets, use a fleece pajama on top of a cotton one. You can also have them wear cotton socks.

Use dark drapes for the windows and be sure to keep the window open during the day to renew oxygen in the room.

Follow your usual routine with melatonin or other sleeping aid.

Max does not take anything. Keep a cup of water or herbal tea available for your angel.

A lot of children have snoring problems at night. The low room temperature and a humidifier will help the situation.

our children to bed. As soon as I put him to bed, I turn off the light immediately and tell him it is time to go to sleep. I also use an essential oil diffuser, a white sound machine and a night wave assistant. Keep brothers, sisters and pets away during this specific time in order to avoid any stimulation. You can do a feet or hand massage with coconut oil and essential oil.

Max sleeps in a homemade enclosed bed. He loves the cocooning feeling. It feels safe to him and it is his private area. He kicks us out of his bed as soon he is in it!

It is normal for children to have enlarged adenoids and tonsils and for that reason they snore. Those glands are part of the lymphatic system. Both help protect a person from infection by trapping germs entering in the mouth and nose. Our angels are very curious and explore a lot , they put their fingers in their mouth and drool which leaves them expose to germs.

Nutrition is a key factor in your child’s quality of sleep. The other reason for enlarge adenoids is a chronic inflammatory reaction to certain food. This very common intolerance concerns sugar, milk and gluten.

Choose kefir or plain organic yogurt, in which lactose and proteins are already broken down by beneficial bacteria. If you can,

choose goat product or unsweetened non dairy products over cow products.

Most of the processed foods contain preservative and coloring, avoid all of them too.

The LGIT diet will help a lot for angels who wake up at night. The complex carbohydrates with the perfect ratio of fat and protein help temper blood sugar fluctuation and with the frequent small meals it can help reduce GERD. Children can wake up at night when they have hypoglycemia. It is a natural brain alert to wake up if the blood sugar level is too low. When this happen try to feed your angel with a nutritious meal. A mix of coconut cream with peanut butter or seeds, an avocado or a drink with warm coconut milk and coconut oil with a tsp of coconut flour.

It happens with Max from time to time. It can be the result of a growth spur, a very busy day or a change in temperature.

A good night sleep is essential for the brain.

Many studies are calling sleep the detoxifier of the brain. We all know the effect of a bad or poor night of sleep. Our children are prone to seizures and the lack of sleep lowers their immune system making them more fragile in case of infection.

Walnuts are full of protein, fat, vitamins and minerals, -excellent brain food.

Chop finely in a food processor and sprinkle over cereal or yogurt for those that do not chew very well. *Always check food allergies to nuts. Do not give if allergic or sensitive to nuts.

Wonder why many of our Angels love bananas?

I hope these little tips can help you to regulate your angels sleep.

We do also have a plan B and C: Use a DVR in the bedroom with a timer and keep your earplugs within reach.

WWW.ANGELMANTODAY.COM

They are rich in potassium, also a good source of vitamin B6, which is needed to make melatonin.

January / February 2014

Angelman

Today

Angels Week Off Enter to Win 3 days 3 nights in San Francisco, CA Staying at a 5 Star Hotel 3 days 3 nights in Napa Valley, CA “Live in the Vineyard� Music Festival

San Francisco, CA ANGEL'S WEEK OFF ...

Since our daughter's Angelman Syndrome diagnosis in 2007, my wife and I have embraced the community of people who share our journey. We've been fortunate to have had helping hands around us when we needed them. We've tried to be those hands to others whenever and wherever we could. The road is difficult for caregivers of people with special needs ...and it never really ends.

In 2010, we started our own nonprofit 501c3, The Angel Wings Foundation. The truth is we held and hosted so many benefits and contributed to so many other non-profits we simply needed a secure and transparent place for money to go while we decided how to direct it. The first few Bella Bashes were accounting nightmares. Money was changing hands and we wanted people to know where it was going and how it was being used.

I have literally had people walk up to me after a concert and just hand me a wad of cash to apply toward "Angelman Syndrome". I don't like having those kinds of grey areas in my life.

WWW.ANGELMANTODAY.COM

Napa Valley, CA Our little foundation doesn't take in a lot of money and we don't actively raise a lot of money. We do a few benefits a year and we try to keep our support as local as possible. We've funded therapy programs at the Vanderbilt Kennedy Center. We've helped Tennessee residents with IEPs and other services. We've made awareness videos and contributed to all the other Angelman Syndrome related foundations. We attend every Angelman function we can get to and we help wherever we can.

In the coming years, we intend on refining our focus and expanding our reach. But we still think of ourselves as just here to help. The larger Angelman foundations are doing some amazing things and breaking some much anticipated new ground. We are cheering them on whole heartedly. But in the meantime, while we all wait on the next exciting breakthrough or therapy, and while we continually connect with each other to discuss everything from recipes to bedtimes, time slips through our fingers and fatigue sets in. Days turn into months ...then into years. Sometimes, we as parents just need a break.

Yolanda and I were discussing this

very thing this summer when we kind of hit on an idea ...

We decided to offer something through our foundation that might be just the ticket for someone. We're giving away what we're calling an Angel's Week Off. We're giving away a vacation, basically. Three days and three nights in San Francisco, at a five-star hotel.

Then, three days and three nights at a music festival in Napa Valley. It's called "Live In The Vineyard" and it's three days and nights of live music, amazing food and wine tastings. Former artists who've been at this event include, Alanis Morisette, Lenny Kravits, Daughtry, James Blunt, Zack Brown Band, Plain White T's, Colby Calait, and the list goes on and on ...and on. The event is spectacular and we can think of nothing better than the Napa Valley, music and world class wine to give two of our fellow beleaguered Angelman parents a chance to exhale and recharge.

Many Angelman parents have never even been away from their Angels for one night. We understand how difficult it might be for some to trust a third party January / February 2014

with the enormous responsibility of caring for their Angel for a solid week. So, we're also providing a male and female caregiving team, who are certified special needs caregivers and who have experience with caring for people with Angelman Syndrome, for the entire week as a help team to whomever the parents designate as their caregiver for the week.

We want it to be a week off for the Angel too. The team will take the Angel to the park or the zoo or a museum, each of the seven days.

An activity for each day will be chosen in coordination with the parents and the parents' designated caregiver ahead of time. Our team will be there to help in every way possible. There will be skype and face time available any point the parents want to check in. We want them to feel good about the hands their Angel is in. We want them to relax. We want the Angel to have a great time as well.

We hope to make this a biannual thing eventually or (my personal goal) make it a monthly thing. But this year we'll start with one family and see how it goes.

Yolanda and I don't want to be involved in choosing the family, so we're making it a contest of sorts through the new publication Angelman Today. We're asking those interested in applying to write a five hundred word (or less) essay on their Angelman Journey.

We want to hear your story. We're asking that all applicants have an Angel over the age of five-yearsold. The first 50 will be accepted.

Then a panel made up of one of our board members, a representative from Special Olympics, a representative

from Best Buddies, a representative from Make A Wish and Lizzie Sordia, managing editor of Angelman Today, will decide on the winning applicant. The Live In The Vineyard event takes place twice a year. Once in April and once in November. We will coordinate with the winning family as to which week they'd like to do. Then ..the fun begins.

There are so many heavy things Angelman families deal with on a daily basis. There are so many heavy things the Angelman community is trying to collectively achieve for our children. We know this and we are in it with you. But sometimes it's important to get away, drink some wine and get lost in a song or two.

This is the world Yolanda and I know and it's something we can offer.

We appreciate Angelman Today for helping us coordinate the contest. We believe it's going to be a wonderful experience for one deserving family.

Our prayer is that in the future we can make something like this happen for every Angelman family.

You can enter your essay at: angelsweekoff@angelmantoday.com

AD

Sibling Love and Support

Alliance on Science Angelman Syndrome A short tale on how we got united

By Betty Willemsen, Founder of Nina Foundation You see Tweets and Facebook messages on one of the most exiting achievements; the Alliance on Science is born. How is this accomplished and how does it work?

I guess you even wonder how to participate?

First International Conference on AS, Rotterdam October 2012 In 2012 the Nina Foundation (NF) invited every AS organization they could find to Rotterdam to present their idea on working as an Alliance. I invited each one personally so I do know the efforts I have made to reach people from, New Zeeland, Australia, Japan, USA, Canada, Israel, Argentina, Spain, Denmark, Sweden, Finland, Ireland, Italy, France, Germany, etcetera etcetera. But not all replied, so we send a second letter and a third, sometimes through different channels.

The organizations could make it to this International scientific meeting in Rotterdam, together with an impressive crowd of scientists, were all asked to participate in 2 brainstorm sessions on HOW to create the most effective Alliance.

All the remarks were taken seriously and a questionnaire was developed to further investigate the possibilities and weaknesses (!).

Legal work, May 2013 Then the NF wrote a memo on the most efficient and internationally effective way to work together. We wanted no costs and we needed to avoid the tax problems that some countries encounter when participating in a larger initiative. And above all, we needed to work as equals, as a community and without creating confusion for parents.

This memo has been spread to the organizations that had made it clear to be interested. And they got a few months to react to this memo, so eventually a lot of changes were made. And now there is a wonderful, simple and effective Alliance thanks to all the good input that we received.

WWW.ANGELMANTODAY.COM

The first pioneers sign the Alliance, Rome October 2013 In October 2013 we agreed to come to Rome during the international conference set by ORSA, the Italian parent organization. There we sealed the agreement with a group of starters after long and intense meetings. France, Italy, Belgium, Ireland, England and Nina Foundation signed and all offered the financial input to start the first call for scientific research. The other organizations also agreed to join and were sorting out if they could immediately participate with money or better do this next year, 2014. For example PWAV, Japan and Germany. This means that you can still join if your country does not have a participating parent organization yet!

Goals of the Alliance on Science For the first period of our cooperation the mutual goals are: • the joint funding of current research projects; • the joint funding of new research projects; • setting-up annual meetings of the scientific advisory board, combined with a biannual meeting with other scientists in related areas of expertise, as a new view on Angelman Syndrome may lead to promising new insights and projects; • setting-up a network of multiple scientists and parent organizations in order to be eligible for funding by (for instance) the European Union; How it works In relation to the project-funding process, these are the steps (per call): Each country presents one parent organization as their representative to participate in the Alliance.

That organization combines the funding created in their country and labels it with the destination ‘Funding Alliance on Science’.

After determination by the parent organizations of the amount of funds they have available for joint funding of research projects they sign the January / February 2014

Raspberry Mousse LGIT – Low Glycemic Index Treatment approved

Ingredients: 1/2 cup of frozen or fresh raspberries 2 eggs whites 2 tablespoons of creme fraiche/ heavy cream 3 drops if stevia Sour cream & 1 drop of stevia vanilla for icing 9 Carbs Total Whip the egg whites, whip the cream, pour the fruits & mix everything together.

Use small individual cups, rub the inside with coconut oil, pour the mix very carefully, keep in the freezer for a couple of hours.

Take out the cup place upside down on a plate, cover with sour cream flavored with vanilla.

Enjoy :)

WWW.ANGELMANTODAY.COM

January / February 2014

Alliance agreement that states the wish to make funds available and the amount of funds which will be available per the moment the grant(s) is (are) awarded.

Then the scientific advisory board sets up a call in which they include the most important cornerstones on research.

The first stage of application period starts: application by sending in two-pagers on research ideas.

Then the second stage of application period starts: on the basis of the aforementioned assessment the European scientific advisory board invites one or more applications to send in a more detailed application.

Eventually those detailed applications endure assessment by the scientific advisory board and they draw-up a ranking of the applications which are eligible for funding.

Now the participating parent organizations come in play and decide which of the ranked research projects are awarded a grant.

And then we draw-up separate funding agreements between the relevant researchers and each of the participating parent organizations with respect to their part of the funds connected with the awarded grant.

The funding goes from the parent organization directly to the scientist. There is no bank account in between to park all funding from participating countries.

Whom does what The parent organizations keep everyone in their country informed and pays their part of the funding to the scientist.

WWW.ANGELMANTODAY.COM

The scientific board is in charge of the calls, assessments, reports and evaluations.

The NF does most of the work necessary like communication between parties, administration and reports.

Here we go, Paris October 2014 The next meeting is in Paris 2014, October.

Have a look at their website for more information. They also ask for financial help in organizing the event. Perhaps you can think about this? In Paris the scientific call for projects will have selected a few scientists to give a presentation to the group about their idea.

What can you do?

After reading this, you might get exited and wanting to help. And you can!

You can join, donate or fund raise, there are countless ways you can help. If you need ideas please contact the parent organization in your country or the Nina Foundation.

For legal information on the alliance you can directly get information from Martijn van Steensel who works at the legal firm Loyens & Loeff. They handle, on a completely voluntary basis, all the legal work and donations to the Nina Foundation. Mail info@ninafoundation.eu ask for the Alliance Agreement (in English) and you can mail us all your questions.

We are united ;-) and more countries are welcome to join.

Wish you a great 2014. Super exiting!

January / February 2014

ABA Therapy – Applied Behavior Analysis

By Mark Mautone, M.A. ABA When educating children with Angelman Syndrome (AS), many parents look for the best schools that have teachers with extensive experience working with children with special needs. The programs that the parents observe are classrooms that educate children with different disabilities. These classrooms are categorized as Multiply Disabled (MD). These classes are always perceived to be the “generic” solution for children who possess deficits that are difficult to address in other classes. With saying that, these classrooms can be very effective for most children. However one type of educational setting that is overlooked, is a classroom that implements the principles of applied behavior analysis (ABA).

ABA is mostly associated with the field of autism. ABA is the science of applying experimentally derived principles of behavior to improve social significant behaviors. (Cooper, Heron, & Heward, 2007).

Behaviors are observed in many forms such as blinking an eye, waving a hand, saying “Hi”, or walking. Most people do not look at these behaviors as a “behavior” because they are automatic for most people. Unfortunately, society has always associated “behavior” with negative actions. Let’s start to think differently. Social significant behaviors are behaviors people produce that are meaningful actions that are observe in many forms that are present in society. This may include decreasing maladaptive/stereotypic behaviors

Before we go any further let’s briefly define what “social significant behaviors” are and their function. To do so, I am going to breakdown the term in the simplest form. Social means relating to people or society.

Significant refers to having meaning. However, when the word “behavior” is mentioned, most people think of maladaptive or stereotypic behaviors such as hitting, spitting, kicking, or repetitive motor/vocal behaviors.

In reality, everything we do is considered a “behavior".

and/or increase appropriate learning and social behaviors.

WWW.ANGELMANTODAY.COM

Most research in ABA relates to individuals who are diagnosed with Autism Spectrum Disorder (ASD).

However, like individuals with ASD, social, communication and behavior deficits are also evident in children with AS. In the past, ASD and AS were perceived as very similar disorders. Although research is limited in using ABA with children with AS, there are two studies (Summers, J & Szatmari, 2009 and Summers, J &

Hall, E. 2008) that show evidence that select principles of ABA are effective educating a child with AS. These procedures included discrete trial, shaping, chaining, reinforcement and task analysis of skills (Summers, J & Szatmari, 2009). Summers, J & Hall, E. 2008 investigated the correct implementation of ABA teaching procedures by parents with AS using an ABA skills training manual. The results of this study showed differences in results across 4 parents. Two of the parents showed improvement in responding across 4 of 5 domains, one parent did not demonstrate change, and the last parent had mixed results that may have due to the child’s disruptive behavior according to the study.

Even though there is limited research on applying the ABA methodologies there is sufficient evidence to show that educating a child with AS is effective.

As a professional who is not only educated in ABA methodology, I am also a teacher who applies these principles on a daily basis. A few months ago I had the opportunity to meet an extraordinary young boy named Max. Max is diagnosed with AS. Max’s mother, Sybille requested me to work with her son using ABA procedures.

After I evaluated Max, it was certain that we needed to work on sitting at the table and the January / February 2014

ability to maintain appropriate use of his hands while sitting, such keeping hands down when working. Max has a history of swiping items off the table and had difficulty sitting. His program was only focused on those behaviors. Those two behaviors are pre-requisites to learning and attending. I work with Max once week for an hour. I am happy to report that by the 6th week Max was able to walk to his work area and sit down. His reinforcement is delivered for producing the target behavior with preferred videos on the iPad for keeping his hands down. We are moving into the phase of programming, which will be introducing educational programs using ABA principles.

WWW.ANGELMANTODAY.COM

“This article was written two months ago.

Today Max is able to start the timer on the iPad, chose his activity, finish it and go to the next one. We started "proloquo2go" program and he loved it. He is learning quickly with his ABA therapist and I truly believe there is no particular age to start ABA therapy. If you have a great therapist you can do miracles with your angel.” – Sybille Kraft Bellamy

Mark Mautone, M.A. ABA ITPADD Educational and Technology Consulting Mark@itpadd.com www.itpadd.com Follow me on Twitter: ITPADD

January / February 2014

Thank you for your support Please Share Angelman Today www.angelmantoday.com

Connect with us on