INCLUDING RESOURCES ● RESEARCH ● INSPIRATION
d i g i ta l ma g a z i ne
Angel’s Week Off winners share their vacation with us
Upcoming walk for the Angelman Syndrome Foundation May 17th 2014
May is here and many of us in the US are gearing up for the annual walk for the Angelman Syndrome Foundation. This will be my fourth year hosting the walk in Orlando, Florida.
After my son Nathan was diagnosed, our geneticist handed us some information about AS by the Angelman Syndrome Foundation. I quickly went to the website to learn as much as I could. When I learned of the annual walk that I could host in my area, I had to get involved. I wanted to meet other families and see other Angels. I did not know how I was going to pull it off, but I was determined and when I get determinedâ€Ś watch out! I can hardly describe the feelings I felt when meeting so many families, hearing their stories and seeing the abilities of the Angels. After my first walk I had this overwhelming feeling of joy that helped heal a small part of me that was broken hearted about the diagnosis. I was happy to raise funds for research that not only is searching for a treatment but is discovering ways to help individuals with AS today, like treating seizures with the Low Glycemic Index Diet. It is a true blessing when we can take time out of our crazy schedules and get together as a community and raise funds for any AS organization. I hope you all have a wonderful time. Warm Wishes, Lizzie Sordia Editor - in - Chief
MAY / JUNE 2014
The Benefits of Juicing 13
Angels in Action - Ishaar, age 5…………5 Control Your Allergies By Shari Caspert………..………………….6
Cover: “Super Cooper” Owensby, 6 years old, AS From Illnois
Our Family Sleep Tips By Shari Caspert……………………….....10 Family Experience with The Safety Sleeper…………………11 The History of Angelman Syndrome (Spanish)…………………………….........13 Angel’s Week Off Vacation Winners………….…………………..…14-15 Mompreneur Marketplace……………. ..17 Angelman Syndrome Foundation walk Pictures………………………….…..19 SOUL Electronics Promo ………………..21
Angelman and Associated Foundations Angelman Syndrome France….....7 AS Meeting – Paris 2014 Help Me Fly……………………..…18 (New Foundation) THERAsurf……………………...…26 The Angelman Syndrome Foundation…………………….…..29
Parent Recommended Books..………….23
Asociacion Sindrome de Angelman……………………….…32
What is Angelman Syndrome (Spanish) …………………..…….………..23
Bye Bye Winter By Sybille Kraft Bellamy…..….…….........24 Juicing……………………………………...25 Classifieds…………………………………27
The Angelman Network – New Zealand………………………….…36
Angels in Action Celebrating the Abilities of our Angels By Kiren Sandhu, Mom to Ishaar, age 5 Throughout the days (and nights), there is a lot of laughter. Ishaar does all of the laughing, and I smile and tell him how silly he is. I enjoy listening to his laughter as it means all is well in Ishaars world. Ishaar loves to pull my hair and smell it (its his way of being affectionate). He especially enjoys laughing as he is doing this. He is so strong that once he has a good grip, there is no escaping his clutch. So I am stuck until he decides 'ok I'm done'.
There have been times that I have been in a hurry to go somewhere, or in a rush to get something done, or am in middle of a family photo shoot, or times when I am just not in the best of spirits. But Ishaar doesn't base his desire to be affectionate around my mood or my schedule. Nope, he actually prefers to strike at the most inconvenient and unfavourable times. As hard as I try to pry his hands open so I can have my hair back (this actually makes him laugh even harder)...I cannot win. So what happens when I am stuck there in my predicament...I burst out in laughter too. During that time when we are laughing together, all is well in Mommy and Ishaars world. -The Shandhu Family from Vancouver, British Columbia in Canada.
MAY / JUNE 2014
Spring is here! Control your Allergies, Sleep and Stress “Naturally” with Aromatherapy by Shari Caspert We all love springtime and look forward to the great outdoors. We can all get outside and explore, go bike riding, enjoy the playground, exercise and get lots of great sensory input. The days are longer, and brighter and we just want to breathe in the fresh air, get rid of our coats and enjoy. And soon, we will get to go swimming, our favorite activity! Our schedules have changed, the days are longer, and we all just want to stay outdoors! We have Spring Break instead of school, many family Holidays and celebrations which include extra stimulation, BBQ foods, cakes, cookies and lots of hugs. With that comes more exposure to sun, allergies, less sleep, dehydration and a break in routine. Most of us welcome the change, for our group it may become difficult. Allergy season is here too! Our kids really don’t think about it too much, they will continue to put things in their mouths, run around the house with their pollen infused shoes, clothing and rub their eyes. All of the sudden, everyone’s sleep is interrupted, the kids are cranky, broken out, over heated and just uncomfortable. They are stressed out and so are we, so we must take action! We start with our non toxic, natural first aid kit and go for it (no side effects like medication and they do not expire). Any chemicals on your body, in your body or environment enhance allergies. Try to rid them as best as you can. We use a lot of Young Living Essential Oils and their products because we know that they are safe, effective and pure. We diffuse a lot of Lavender which is a natural antihistamine as it helps with sleep, aides with sunburn, is
calming and has many uses. We also put it on topically, use it in epsom salt baths and in lotion. It is great for any age, you can rub it right on the bottom of the feet for the younger group as well Purification is fantastic this time of year. It is a blend that includes citronella, lemon and lemongrass. It helps soothe bug bites, cuts and scrapes, deters insects, purifies and freshens your environment. Diffuse or make a spray bottle for cleaning the air.. you can even take an unbleached cotton ball or coffee filter , put a few drops on it and place it in your car vent, a great air freshener and gets rid of the toxins and allergens in the air. (I do this with many oils, it is much safer than any plug in freshener that you may have in your car or home). I put a few drops in the laundry to help get the pollen off of our clothes. Keeping your home clean so you are not tracking pollen throughout your home will help you too. Be sure to use only natural products such as vinegar, baking soda, or Thieves cleaner. Remember, anything that helps reduce inflammation in your body will help you with your allergies and general health. If you would like additional tips or learn how to create your “First aid Kit” please contact me at: email@example.com www.YoungLiving4SpecialNeeds.com The Angelman Syndrome Walk is Saturday, May 17th! Get ready “Naturally” Angelman Syndrome Walk tips: (Great for any on the go activities) Non - Toxic Thieves Hand Purifier Deep Relief (Roll on Sore Muscles) Breathe Again (Roll-on for allergies) Drink plenty of water and we love Ningxia Red packets, great antioxidant, energy drink for when you are on the go. Wear your t-shirt, spread awareness and have fun!
3rd Angelman Syndrome International Meeting 17 October 2014 – Paris
The international meeting is open to researchers and clinicians involved in neuroscience, gene therapy, neurodevelopmental disorders, particularly in Angelman syndrome. It is also open to officials of European and international organizations created around Angelman syndrome. The aim of the international meeting is to encourage researchers to share their experience and knowledge about AS. For this reason, speakers present their scientific projects to one another.
In 2012 the following four European associations: Nina Foundation (Netherlands), Orsa (Italy), AVO (Austria) and AFSA (France) joined to organize an international meeting bringing together researchers involved into Angelman syndrome (AS). The first meeting in 2012 in Rotterdam (Netherlands) was a huge success. The 2013 edition took place in Rome (Italy). Paris (France) will host this year, organized by AFSA, on 17 October 2014. It will be followed by the French association’s national conference.
As the Rotterdam and Rome conferences have shown, direct exchanges definitely increase scientific research on Angelman Syndrome, which is supported only by associations, foundations or fundraising. Every two years, AFSA organizes its traditional two-day national meeting. This is a special opportunity for all French families affected by Angelman syndrome to meet and share their experiences and improve their knowledge. Newly diagnosed families, seeking answers and comfort, are particularly welcome. Medical and paramedical professionals (physicians, geneticists, psychomotors, physiotherapists, researchers, etc.) take part in the national meeting and share with parents all the progress and improvements that they are aware of. This year, AFSA is proud to combine these two major events: the international meeting will be followed by the French national meeting (18 and 19 October 2014). More information can be found on www.angelman-afsa.org AFSA’s fundraising page for the international meeting : http://www.alvarum.com/colloqueangelman2014
MAY / JUNE 2014
Our Family Sleep Tips By Shari Caspert We learned the best tip at our very 1st Angelman Conference 15 years ago: Change Matthew’s bedroom door to a dutch door!!! It is the safest place in the house for him, he can play, have privacy and when he does not sleep we know he is safe!! Thanks to his dutch door, he sleeps in a regular bed and has room to roam. Part of his nightly routine includes; diffusing therapeutic grade Young Living Essential Lavender in his room an hour prior to sleep and an Epsom salt bath with a few drops of Lavender. We love “pure” therapeutic grade lavender because it assists with sleep and allergies as it is a natural antihistamine.
MAY / JUNE 2014
Angel Family Experience with the Safety Sleeper By Stephanie Moyer, Mom to Colin age 8
We have been using the Safety Sleeper for our son Colin for more than a year now. It has been a total game changer. Colin went from being up three to four hours every night, and he would kick the door and wake up the whole house. Since we received The Safety Sleeper, he sleeps 12 hours every night! We have seen the greatest difference when we travel. Before, we would go on vacation and Colin would average two hours a night — not much of a vacation! Now, we take his bed, and he sleeps 12 hours! I can break down the bed, and even check it on a plane (it weighs about 25 lbs).
think it’s so fun! I’m waiting for my typical fiveyear-old to ask for one!
Colin is eight. A typical eight-year-old could sit and watch TV while you showered. But everyone who loves an angel knows that is IMPOSSIBLE. But now, I’ll put Colin in his bed, with his iPad and take a shower knowing he is safe. The bed is also great when Colin is over stimulated. Sometimes he even asks to go in the bed with his iPad for quiet time to calm down.
The company customer service is great. The owner sent us a prototype for our vacation to try before we bought the bed. (the prototype was an exception and not standard practice for The Abram’s Bed Co.) She even Facetimed with me to help me set it up. When we purchased our bed, one of the rails arrived with damage. We notified the company, and they sent out a new one immediately.
The bed is a twin size, and it sits right on his mattress. It looks more like a spaceship than a bed. When friends come over, they always ask if they can play in Colin’s bed – they
The bed was invented by a mom who has a son with autism. He wasn’t a good sleeper, so she invented a solution — and now she is helping parents all over the world. Check it out at www.thesafetysleeper.com
The price tag is a little hefty. Insurance did not cover Colin’s bed, despite our best efforts. One of our friends recently got one, and it was covered — so it’s definitely worth a try to see if your insurance will foot the bill. For our family, however, the bed was worth every penny. Colin was able to get off tranzene at night — which was huge! And since he is sleeping, the whole house sleeps. Everyone is happy, especially me and my husband.
A Big Thanks to all of the contributors that help bring you Angelman Today! Contributors: Sybille Kraft Bellamy Shari Caspert Karen Briggs Del La Fuente Lana Kruger All of the Angelman and Associated Foundations across the globe
Mary and Rory Moen Kiren Sandhu Kathy Parker Stephanie Moyer Angelman Today Supporters: Abramâ€™s Bed www.thesafetysleeper.com Linda Roberts www.youravon.com/lindaroberts Shari Caspert www.youngliving4specialneeds.com Jocelyn Silverman LHJBS18@gmail.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.
La Historia del Síndrome de Angelman El Dr. Harry Angelman fue un médico Inglés quien identificó lo que hoy en día se llama Síndrome de Angelman. Nació en Birkenhead, Inglaterra. Le fascinaba el idioma y la cultura de Italia.
El fue el primero quien observó trés niños no relacionados quienes demostraban síntomas similares – atrasos severos intelectuales, un modo de andar que era espasmódico y rígido, ausencia del hablar, convulsiones, y una disposición contento. Luego, duranted unas vacaciones en Italia, descubrió una pintura llamada “Un Niño con una Marioneta,” creado por el artista del Renascimiento Giovanni Francesco Caroto, en el museo Castelvecchio en Verona. La pintura le hizo pensar en los niños que eran sus pacientes, y le condujo a publicar un artículo profesional en el año 1965 que describía lo que el llamaba “Niños Marionetas.” En aquel momento la importancia de su artículo no fue reconocido como algo importante.
Dr. Harry Angelman 1915 – 1996
No pasó nada mas hasta Charles A. Williams y Jaime L. Frias del departamento de Pedíatra, Divisíon de Genética, de la Universidad de Florida Colegio de Medicina de Gainesville, Florida, sometieron un artículo a la Revista Americana de Genética Médica explicando estudios de séis pacientes, comparando sus datos con los de informes previos – incluyendo atrasos intelectuales severos, el andar como un “marioneta,” anormalidades cranio-faciales, y espisodios frecuentes de risas. De repente, se notó que eso era mucho más común de lo que anteriormente se creía. Ellos propusieron ponerle el nombre de Síndrome de Angelman, en honor del Dr. Harry Angelman. WWW.ANGELMANTODAY.COM
MAY / JUNE 2014
Angel’s Week Off Winners Mary and Rory share their vacation with us By Mary Moen How do I begin to tell everyone what this "Week Off" has meant to us. It was way more than a trip of a lifetime. First off, having “experts” like angel mom Lisa Jamieson and the Hamms' PCA, William Twiner providing care for our angel Samantha turned out to be one the best experiences ever. Sam’s aunties learned so much from William and Lisa. What they left behind was knowledge, inspiration and motivation. To start with, Sam fell in love with William immediately! Just to know that Sam was in good hands and being completely spoiled, allowed for us to really let go and relax.
I made it for Sam's lunch and Sam liked it so much that she nodded her head for Yes when asked if it was good and then used her PODD book to say Thank You!!! Her para couldn’t believe it, she wrote Sam’s whole school team to document Sam communicating something other than a request or something is wrong! This is now a weekly staple!
It's the little things like this that all add up. William and Lisa have helped to provide opportunities for Sam to communicate about things that matter to her!
We had been in a pictello rut and stopped using it after some technical difficulties. Lisa made several pictello stories to document the week which Sam really enjoyed sharing at school! Since our trip we’ve increased our use of pictello and even included it in Sam’s recent IEP. Sam’s communication is taking off! During the last month, Sam has shown increased head nodding for yes and no, increased participation in morning meetings at school and increased use of her PODD book! We have been working on all of this since last fall, but we have seen a huge growth spurt during the last month! Lisa also shared a gluten free recipe that she suggested for Sam; French Toast Egg Bake. WWW.ANGELMANTODAY.COM
MAY / JUNE 2014
And now about our amazing trip of a lifetime! We had 3 nights in San Francisco and 3 nights in Napa Valley. In San Francisco we went to Alcatraz, rented bikes in Golden Gate Park , had dinner in the Haight/Ashbury area and went to a great little Mexican Korean dive and gorged on the best (and only) Kim Chee Spicy Pork breakfast burrito I've ever had! We drove down to Carmel, golfed a little par 3 at Pebble Beach and then had lunch overlooking the 18th Hole of Pebble Beach (very exciting if youâ€™re a golfer!) Basically we ate our way through San Francisco (and drank our way through Napa!).
Napa was a whirlwind! We got to meet Yolanda Hamm shortly after we arrived. There is just something about meeting other parents of angels. This instant connection - knowing that they get it, the good, the bad and the ugly. The time we got to spend with Yolanda was the best! Yolanda went out of her way to make us feel like extra super special VIPs. The whole weekend was beautiful, romantic and special. We got to see many different artists perform at various events. Colbie Caliet performed at a vineyard while it was pouring down rain gorgeous! Passenger, a new favorite, was WWW.ANGELMANTODAY.COM
amazing. I danced like crazy to Fitz and Tantrums (apparently Yolanda has the incriminating evidence on video). And then to end the weekend, Sarah Mclaughlin dedicated her new song Beautiful Girl to us and Angel Wings Foundation. We will remember this week for the rest of our lives.
We really want to thank Reggie and Yolanda Hamm and Angel Wings Foundation for putting this dream trip of a lifetime together! We hope that our experience will inspire others to support Angel Wings Foundation in the hopes that other families wanting a 'break' will have the same opportunity. Even if you don't think you need a break, your angel might think differently! Thank you to William and Lisa for providing such loving care to our daughter Sam. This week benefitted Sam just as much if not more!!! Thank you to my sisters Judy and Ann for staying at my house and helping take care of Sam. Thank you to everyone involved with Live At The Vineyard for supporting this dream. Thank you Angelman Today for being a part of the dream! -Love (and big sloppy angel kisses), Mary, Rory and Sam MAY / JUNE 2014
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MAY / JUNE 2014
Kyle Received a Rifton Trike
Help Me Fly Inc. Non-Profit Organization
Help Me Fly Inc. Mission Statement Help Me Fly Inc.â€™s Mission is to help families gain access to adaptive equipment that they normally could not have access to without some type of outside help. We strive to help these families reach their full potential by giving them hope that they can still have easy access to items that can be essential to their everyday lives. firstname.lastname@example.org http://helpmeflyinc.wix.com/helpmeflyinc
The idea behind Help Me Fly comes from seeing and hearing so many parents struggle to get items that can benefit their families in so many different ways. It can help children gain access to items that can keep them active, help them gain strength, safety items to keep them safe, or it can be an item that can help them communicate with their families. So many families need things that insurance finds medically unnecessary even though it can help these families in big ways. Help Me Fly wants to help these families gain access to these items. Lana Kruger 812-390-2373 Shannon Purcell 630-915-4179 https://www.facebook.com/helpmeflyinc
My experience with Help Me Fly Inc. was nothing less than phenomenal. I found Lana to be extremely hard working, organized and devoted to Help Me Flyâ€™s mission. In 10 short days, the money was raised for my sons adaptive bicycle and it was ordered 2 days after that. Lana made sure she didn't miss a beat when it came to answering questions, advocating for my son and keeping me on the same page. This was the first experience I've ever had in 17 years that was a joy when it came to obtaining adaptive equipment for my son. I couldn't recommend them more highly if I tried. Shannon Purcell, Mom to Kyle.
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.
Dr. Harry Angelman 1915 – 1996
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.
MAY / JUNE 2014
Angelman Syndrome Foundation – Walk Announcement
SOUL Electronics, a proud sponsor of the ASF Walk in 2013 is excited to return and offer a 10% discount off of its products for Angelman supporters. When someone goes onto www.soulelectronics.com to purchase any products and enters in the promo code “angelman10” at checkout, 10% of what they buy will be donated to the ASF. SOUL Electronics is the pioneer of the first true line of athletic headphones, designed for active lifestyles, and co-developed, inspired and rigorously tested by top professional athletes in the world – Tim Tebow, Usain Bolt and Brendan Schaub. As a global leader in audio consumer electronics, SOUL combines innovative technology from an award-winning team of engineers and durable, fashion-forward, high-definition headphones – at affordable prices – that uphold the brand’s core elements of “Power. Clarity. Comfort.” (Picture from 2013 ASF walk – Orlando Florida)
WHAT WE KNOW ABOUT THE HUMAN BRAIN Dr. Edwin Weeber is a Professor at the University of South Florida in the Department of Molecular Pharmacology and Physiology. He is Director of the Neurobiology of Learning and Memory, the Cellular Electrophysiology and the Murine Neurobehavior Laboratories. His research is conducted at the USF Health Byrd Alzheimer’s Research Institute, where he is currently the Chief Scientific Officer. Dr. Weeber began his Angelman Syndrome research in 2001 as a Post Doctoral Fellow at Baylor College of Medicine. His work has focused on understanding the molecular mechanisms underlying the cognitive disruption in the Angelman Syndrome mouse model. He is currently the Primary Investigator for a clinical trial to determine the effectiveness of the antibiotic Minocycline in the treatment of Angelman Syndrome.
Edwin Weeber, Ph.D. Presenting May 15th 12-4pm Tampa Convention Center
Tickets on sale
MAY / JUNE 2014
Books Recommended by Parents
MAY / JUNE 2014
Bye-Bye Winter Hello Summer!! By Sybille Kraft Bellamy We are done with snowstorms, freezing rain and below zero temperatures. Now it is time to enjoy the warmer weather. Unfortunately our children with AS are not well prepared for the hot temperatures. Max, 12 years old, deletion + is extremely sensitive to hot weather and humidity. To avoid any serious health issues we have to ANTICIPATE. Children and adults with Angelman syndrome have body temperature regulation problems. They cannot adapt to rapid temperature change or extreme temperatures. In Max’s case he turns pale, his heart rate gets elevated and he becomes very lethargic. A major priority is to control his hydration. He needs to drink a lot. Children and adults following a ketogenic diet cannot have sweet beverages. Everybody should have plenty of water with electrolytes. Electrolytes are essential for the normal functions of our cells and organs.
When the body temperature fluctuates the level of electrolytes becomes imbalanced, which can trigger seizures. Trader Joes and Whole Foods both have bottled water with electrolytes. It is good to keep a reserve of bottles in your freezer and fridge. We buy electrolytes that come in individual bags. They are easy to transport, we keep some in the car, in our bags and at school. For children who don’t want to drink and/or if they don’t feel thirsty you have to find what will trigger the desire to make them drink. It can be temperature related. Some of our children prefer when it is cold or warm. Some like to drink in a cup, with a straw, or a sports bottle. You can also use organic unsweetened Jell-O to thicken the fluids to avoid choking problems and for children with sensory issues. Herbal teas are great for a base, like mint or orange blossom and you can add the electrolytes to the tea.
You can drink, freeze or use the tea with Jello as well. In case of emergency we use a large syringe and squeeze it in his mouth with the mixed electrolytes. It is messy but funny! The syringe is a great way to get children to drink. Bath time is also a great time to introduce it as they think it’s a game and there is no mess. On the side of hydration we are always concerned about the bus ride, especially coming back from school when the temperature is the highest. We bought a cooling jacket which is comfortable and great for car travel, park and beach. If you can, avoid the warmest time of the day for outdoors activities. For children in school you must specify on their IEP it is a priority that the bus has air conditioning. Some States may not require all bus companies to have all their buses provide air conditioning. However, when it is in your IEP they must comply so make it a priority and be in touch well in advance before the hot weather hits. If your child has an extended school program during the summer you may want to contact your case manager to be sure it is the same bus company and if it isn’t remind them of the IEP specification concerning the air conditioning. We had a bad experience with a new bus company and we had to keep Max at home until they provided us a bus with air conditioning. If your child is showing signs of heat exhaustion you must react quickly to avoid heat stroke, which can be a very serious medical emergency situation. Undress your child and sponge bath him with room temperature water, avoid big temperature changes, too cold can be a trigger for seizures. Use a fan or stay in a room with air conditioning. Start rehydration with small amount at a time with a spoon, cup or syringe. Be sure to use electrolytes or home made options. Check the body temperature, when your child is feeling better you can give him a bath. If you do not see improvement in the next hour you should seek medical attention. For more information about medical emergencies check on the Angelman Syndrome Foundation web site for the webinar with Dr. Justin Grill on “Emergency issues with individuals with Angelman syndrome”.
The Benefits of Juicing
Juicing ! By Sybille Kraft Bellamy
A perfect way to provide a great amount of vitamins and minerals suitable for individuals following LGIT. Juicing has no limit! Let your imagination do the work! There are so many options to make juices with the LGIT authorized list of fruits and vegetables. One of Maxâ€™s favorite juices is a mix of carrot, celery, apple, cucumber, ginger, turmeric and one teaspoon of olive oil. I use the vegetables as the larger quantity on the list of ingredients followed by one or two pieces of fruit and the olive oil helps to homogenize the juice. You can drink the juice, freeze it as a Popsicle, keep it in ice cube tray or make jello with it. It is great to have some frozen and ready to use. You can defrost them any time in a cup of water. Enjoy ď Š!
MARCH / APRIL 2014
IT’S TIME TO WALK! The 2014 ASF National Walk is open for registration! 30 cities are participating and you can see the complete list and register by visiting Angelman.org/Walk. We look forward to seeing you this year!
The ASF National Walk is Around the Corner! Top Five Fundraising Teams The Angelman Syndrome Foundation and the entire Angelman syndrome community are incredibly grateful for all individuals raising funds to support the AS community through the ASF National Walk. As of April 1st, the following five teams have raised the most funds online—please give these individuals and fundraisers a tremendous thank you!
Mia’s Angels Amount Raised Online: $8,159 Walk Location: Los Angeles Mia Ramirez was diagnosed with AS in November 2013, and her parents—Jason and Ying—have mobilized their community to raise support for Mia and individuals with AS everywhere. To date, they have exceeded their fundraising goal by 60% due to the tremendous support of their colleagues, friends Mia’s Angels and family members!
Team Teddy Amount Raised Online: $5,780 Walk Location: Indianapolis Team Teddy was formed by ASF Board member Kathy Rokita and her husband Congressman Todd Rokita for their son, Teddy, who was diagnosed with AS just before his 2nd birthday. Now six years old, Teddy continues to inspire his friends, family and neighbors with his accomplishments, all of who are helping support Team Teddy during this year’s Walk.
Weston’s Warriors Amount Raised Online: $3,530 Walk Location: Boston
The Cecere family has rallied the Boston community to generate immense support for Weston Cecere, who is diagnosed with AS. To date, they have achieved half of their $7,000 fundraising goal and have continued to make significant headway in spreading awareness and generating support for the AS community Weston’s Warriors through the Boston ASF Walk.
Team Nico DC Amount Raised Online: $3,455 Walk Location: Washington, D.C.
Support for Nico RosenblattHoerst, who is diagnosed with AS and the son of David and Karen, has spanned the Washington, D.C. community as well as the Cincinnati area, where his Nana, Cathy Hoerst, has formed team NicoCIN to raise additional support for Team Nico. These teams are raising significant Team Nico DC support for the AS community!
Team Addison Amount Raised Online: $3,365 Walk Location: Pittsburgh
The Bellisario family—Sara, Brian, Addison, Delaney and Emery—have rallied the Pittsburgh community to support individuals with AS for several years now, having raised nearly $13,000 during the 2013 ASF National Walk. Addison, or Addie as her family calls her, is known for being resilient, sweet and a constant learner—her family, friends and Team Addison neighbors could not be more proud of Addie and Team Addison!
Int’l (630) 978-4245
Rockville Centre St. Patrick’s Parade A huge thank-you to the RVC St. Patrick’s Parade committee and all who supported the Parade! The ASF is incredibly honored and appreciative to the Rockville Centre St. Patrick’s Parade committee, the Rockville Centre community, and all individuals who supported the Parade for their immense contributions in raising funds to support the AS community. The ASF was chosen as one of three charities to benefit from funds raised during the St. Patrick’s Parade. The ASF participated in the Parade, which was attended by thousands from the greater Long Island and NYC area, along with numerous individuals with AS and their families—it was an incredible turnout and the ASF is extremely grateful for the support from AS families and community members!
Participate in the ASF National Walk! Visit www.angelman.org/Walk to register today for the ASF National Walk. Thirty cities are hosting a National Walk site this year thanks to the tremendous hard work and dedication of volunteers and families of individuals with AS. We look forward to seeing you at one of the ASF National Walk sites or online as a virtual Walker!
Locations: Boston Breaux Bridge, LA Buffalo, NY Chicago Cincinnati Columbia, SC Dallas Danville, VA
Denver Grand Haven, MI Hartford, CT Houston Hunstville, AL Hutchinson, MN Indianapolis Las Vegas
Long Island Los Angeles Nashville Orlando Philadelphia Phoenix Pittsburgh Puyallup, WA
Sacramento Salt Lake City San Diego St. Louis Washington, D.C. Wichita, KS
ASF Educational Webinars Schedule of Upcoming Speakers
May 29, 2014 at 7 pm EST: Dr. Arthur Beaudet
Stay up-to-date with important topics related to AS with the ASF Educational Webinars! The webinars cover a wide range of topics including research updates, clinical developments, tips for everyday living and managing symptoms, and many more. Plus, you have the ability to ask questions and interact with the speakers, who are experts in their respective field. The webinars are intended to be a key source of information and support, and the ASF hopes that you find this resource valuable in your journey with AS.
Dr. Arthur Beaudet, an ASF-funded AS researcher at Baylor College of Medicine in Houston, will discuss his latest research in oligonucleotides and what it could mean for treatment of AS.
Early June: Erin Sheldon Erin Sheldon will discuss literacy in individuals with AS. Stay tuned for the exact date and time! Angelman Syndrome Foundation
April 16, 2014 at 2 pm EST: Dr. Justin Grill
Educational Webinar Series
Dr. Justin Grill, an ASF Board member and board-certified emergency medicine physician, will discuss issues that involve individuals with AS and their interaction with the emergency department. He will discuss strategies to make the best of a stay in the ER and specific intervention information on topics such as trauma, toxicology (poisonings), and fevers.
Angelman Syndrome Behaviors Informational Series The most frequent requests for guidance and assistance from families of individuals with AS are related to behaviors. The ASF has listened to these concerns and in response has created a resource in partnership with the Canadian Angelman Syndrome Society (CASS) to help all individuals who care for and work with individuals with AS better understand the complexities of behaviors that people with AS exhibit. A variety of social, psychological, environmental, medical and communication factors affect behavior, and by better understanding how these external factors affect each individual with AS, concerned families and caregivers are better able to create an action plan to help modify challenging or aggressive behavior. Accessible via www.angelmanbehaviors.org, the Angelman Syndrome Behaviors Informational Series provides assistance in the following areas: 1. Social and Environmental Influences on Aggressive Behavior 2. Mental Health Influences on Aggressive Behavior 3. Cognitive Issues, Sensory Impairments in Individuals with AS 4. Neurologic and Medical Influences on Aggressive Behavior in Individuals with AS 5. Aggression as Communicative Behavior in Individuals with AS Visit www.angelmanbehaviors.org to begin accessing these learning modules today!
Int’l (630) 978-4245
Two great events were hold last February to commemorate II International Angelman Day, to raise awareness about the syndrome and to draw people’s attention to our association and raise funds to finance ongoing researches. The first of them took place in Pontevedra (Galicia). These two events were two marches, one of them a biking and the other a hiking. The participation was extremely high, with more than 1000 registered participants making contributions. The total amount collected reached 7.500 euros, the money was used to finance the research that Hospital Puerta de Hierro (Madrid) is doing with minocycline. More than 1.000 unwanted mobiles phones were donated.
Conference 10-11th May-Madrid
“Let’s make the journey together” Angelman Syndrome Association organized the II Professional Conferences for parents and professionals. We will discuss topics about behavior, communication and apilepsy among others. Find attached the complete program/plan of the conference.
Like last year, there was a Solidarity Paddle Tournamente in Cabanillas del Campo (Guadalajara). We had 33 pairs of players, both adults and children. Many people joined us to help on this important day. Cabanillas golf paddle club made a wonderful job. They make their facilities available for free and contributed to organize player groups. Furthermore, we could enjoyed an exhibition by Adapted Paddle School (disabled people). It was a great day in which we hold our crafts market made by parents of the Angelman Association, we also had raffles and entertaining activities for children. Thanks to the collaboration of many companies in the area and to all the participants, the campaign raised 1.670 Euros. We also collected 410 unwanted mobile phones for their subsequent sale. T h e proceeds from this action, as well as the total amount obtained from both events (3.875 Euros) was entirely donated to Foundation for Angelman Syndrome Therapeutics (FAST)
Activity-dependent changes in MAPK activation in the Angelman Syndrome mouse model Written by Richard Newton; edits by Rebecca Burdine, Ph.D. Angelman Syndrome (AS) is caused by loss of functional UBE3A protein expression from the maternal chromosome in affected individuals, but the specific roles this protein plays in the human brain are still being discovered. The UBE3A protein functions as an ubiquitin ligase, adding ubiquitin to specific protein targets which typically marks them for destruction. Since ubiquitin ligases are involved in the break down and clean-up of proteins that have reached the end of their usefulness, they are sometimes referred to as “housekeeping proteins.” Housekeeping proteins are those involved in the routine maintenance of basic cell function and are thought to be expressed at fairly constant levels in different conditions (1). However, research is showing that there is more going on with how and why the UBE3A gene is expressed than is expected of a housekeeping gene. Recent research conducted by Dr. Weeber and his team (2), funded by FAST, is shedding more light on the expression of the Ube3A gene in mouse – the triggers that cause the gene to create its protein. In their paper, Activity-dependent changes in MAPK activation in the Angelman Syndrome mouse model, Dr. Weeber and his team show that not only did they observe that neuronal activity could regulate expression of maternal Ube3a, they observed changes in the amount of paternal Ube3a expression as well. Most of what we have learned about the expression of Ube3a protein was determined while the system was at rest. That is not to say it was static, because biological systems rarely are, but the neurons weren't being stimulated by excitatory or inhibitory input - they were essentially "resting". A recent paper by Greer in 2010 demonstrated that Ube3a expression was upregulated during induced seizures or in response to new environments, suggesting a link between neuronal activity and Ube3a expression (3). This current report extends those findings and demonstrates that “learning events” increase Ube3a protein levels. Intriguingly, the increase in Ube3a protein came from expression of both the maternal and paternal genes in the hippocampus. Thus, the notion that the paternal gene is “silent,” or not expressed, in the brain is beginning to be challenged. Additionally, the research showed that lack of Ube3a protein prevented activation of other proteins, specifically the ERK (Extracellular-signal-Regulated Kinases)1/2 kinase proteins. ERK 1/2 kinases control expression of other genes and are activated by addition of a chemical phosphate (referred to as “phosphorylation”). The reduction of phosphorylated ERK in mice lacking maternal Ube3a is significant as ERK activity is well known to be necessary for synaptic plasticity and formation of
Activity-dependent changes in MAPK activation in the Angelman Syndrome mouse model memories. Thus, this may be a mechanism that contributes to reported deficits in synaptic plasticity and cognitive function in AS mice and in patients with AS. Taken together, the findings provide new insight into both the expression of Ube3a by neuronal activity and also Ube3a’s potential role in synaptic plasticity. In the future, targets of ERK1/2 can be explored to identify potential “druggable” targets to explore for AS therapeutics. The findings also highlight the need to explore the mechanisms that control expression from the paternal chromosome. These may reveal additional ways we can utilize to increase the levels of UBE3A in individuals with AS, but should also be taken into account with current efforts to reactivate the paternal allele. To read the abstract on PubMed, click here.
1. Human housekeeping genes, revisited. Eisenberg E, Levanon EY. Trends Genet. 2013 Oct;29(10):569-74. PMID:23810203 2. Activity-dependent changes in MAPK activation in the Angelman Syndrome mouse model. Filonova I, Trotter JH, Banko JL, Weeber EJ. Learn Mem. 2014 Jan 16;21(2):98-104. PMID: 24434871 3. The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc. Greer PL, Hanayama R, Bloodgood BL, Mardinly AR, Lipton DM, Flavell SW, Kim TK, Griffith EC, Waldon Z, Maehr R, Ploegh HL, Chowdhury S, Worley PF, Steen J, Greenberg ME. Cell. 2010 Mar 5;140(5):70416. PMID: 20211139
Trustees Louise Alcock and Ursula Cranmer with Alex and Chris - FOR THE ANGELS
Raising awareness for AS, one race at a time Current international projects we are supporting:
Alex and Chris
Now its really on...!!! The Angelman Network is dedicating $30K this year towards the now-its-on campaign. This inspirational challenge is a collaborative venture initiated by the international Angelman community.
The intention is to collectively raise 50 Million for AS research by Dec 2015; the 50th anniversary since Dr Harry Angelman’s publication that described this syndrome for the first time. Spread the word. See the website for more info on this campaign.
The International Communication Project 2014 (ICP 2014) The Angelman Network is supporting and promoting the International Communication Project 2014 (ICP 2014) which aims to highlight the importance of human communication and how communication disabilities severely impact every aspect of life. For more information, see: www.communication2014.com
Congratulations to Chris Robertson and Alex Geisler - FOR THE ANGELS team members who both successfully completed the 2014 Goldrush Multisport Event at the end of March. Chris, a dedicated trustee for The Angelman Network, says, “ It was the toughest thing I have ever done; with a lot of physically and emotionally challenging aspects to it.” This gruelling event took place over 2 days in a remote rural location on New Zealand’s South Island. “The new swim section was the toughest.” Chris says. “but we both knew if we can complete the swim, we would finish the race. Overall it was a privilege to compete for you, and your angels.”
In May last year, Alex and Chris established For The Angels as a personal campaign dedicated to raising funds and awareness for The Angelman Network. Neither Alex nor Chris are parents or relatives of an angel. Alex says,” The reason we have chosen to support this worthy cause, is the daughter of a friend of ours, suffers from this syndrome. After hearing of the experiences that he and his wife have been through, and the daily challenges Angelman Syndrome brings, we wanted to offer what support we can - financially and through educating people.” The team began training and participated in numerous endurance events around the country, racing on weekends in all weather conditions. They shared their experiences on their Facebook page and website, each step of the way - raising awareness and funds for AS in many different community sectors. The Angelman Network Board of Trustees and all our AS families in NZ wish to thank Chris and Alex (and their families) for such a generous show of support. We are truly grateful for all the time and energy they so willingly contributed to our cause. - Ursula Cranmer, Chairperson
iPad offers family new hope (click to follow link) Jono and Sivao Winther are Cultural Advisors for The Angelman Network in New Zealand. This news article was written as a follow-up to the Angelman Conference they both attended in Sydney, Australia, in October 2013. Rakesh Patel is a paediatric neurologist at Starship Children's Hospital in Auckland. He also attended the conference in Sydney. Dr Patel is currently working with The Angelman Network to establish a team of specialists that will become the Angelman Medical Advisory Board in NZ.
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Published on May 9, 2014
Angelman Today online magazine is the first and only publication dedicated to parents, caretakers and professionals of individuals with spec...