INCLUDING RESOURCES ● RESEARCH ● INSPIRATION
Angelman
International Angelman Day 2015 www.angelmantoday.com
Today
d i g i ta l ma g a z i ne
Angel Art LGIT Recipe
March - April
EDITOR’S LETTER
Spring has sprung. Here in Florida the flowers are blooming and allergies are roaring. The beautiful weather in spring seems to inspire a sense of renewal and fresh ideas. The shamrocks in the grass always grab my attention for a second glance in hopes of finding a four leaf clover and capturing some good ‘ol’ “Luck of the Irish!”. That was the inspiration for this edition. I recently had the opportunity to chat with fellow Angel Mama Aisling Cullen from Ireland. I just adore the Cullen twin boys, Zach and Luke from Ireland. They are featured on the cover and in our ‘Angels in Action’ segment. Read about how Aisling describes their personalities and you too will adore them. May the Luck of the Irish be upon you this St. Patty’s Day and may you find inspiration from this edition and our wonderful community as you continue on this amazing journey.
Warm Wishes, Lizzie Sordia Editor - in - Chief
Lizzie Sordia Editor - in - Chief
EMAIL: LIZZIE@ANGELMANTODAY.COM FOLLOW: TWITTER.COM/LIZSORDIA FOLLOW: TWITTER.COM/ANGELMANTODAY
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March / April 2014
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What’s inside
Aromatherapy and Angels…………………4 Angels in Action...…………………….…..10
Angel Art……….…………………………..11
Cover: Twin Brothers Luke and Zach Culen, age 8 Photo provided by: Aisling Cullen
Green Monster Smoothie…….................14 FIND Further Inform Neurogenetic Disorders...15
Angelman and Associated Foundations
Clairy Kourkouta Family Story……………………………….18
Canadian Angelman Syndrome Society………………………5
Irish Luck Avocado Lemon Pie………………..……..20
The Angelman Syndrome Foundation………………………….…...7
Angelman Syndrome Collection’s Showcase…………….……..21
The Charlie Foundation……..………..11
The History of Angelman Syndrome (Spanish)……………………………..........30 Stay Connected…………………………...31
Angelman Syndrome Greece……………………………..…..17 Angelman Switzerland…………….….22
History of AS……………………….….…..32
Angelman Syndrome Mexico…… ……………………..…..…23
Parent Recommended Books..………….33
Matthew & Friends……………………26
Aromatherapy and Angels By Shari Caspert, Mom of 18- year old Matthew What are essential oils and how can they help my family?
There has been a lot of news about Essential oils and how they may help you with many health issues. This is very exciting, yet confusing at the same time. We have been using Essential Oils for the past 4 years in our home. We are always looking for options to help our son Matthew (age 18 with AS) to help him with sleep, behavior, anxiety, stress, focus, digestion and to keep his muscles strong and pain free. After much trial and research we have come to realize that his body is constantly changing and that we may need different strategies to help him at different times, regardless of how consistent we keep things for him. We use a holistic approach that has made a huge difference by removing toxins from his body and his environment. He does still take some medication. For Essential Oils, he diffuses, drinks and uses only Young Living Essential Oils. We have eliminated toxins like bleach, perfumes or any anti- bacterial products (only non-toxic toothpaste, soaps, shampoos and cleaners) for Matthew and our family. It is amazing how we have stayed healthy this winter season with all of the super bugs going around.
What are Essential Oils? Essential oils are extracted directly from plants and can be diffused, inhaled, applied topically, incorporated into massage, or taken internally. They are available as single oils or blends that may have organic carrier oils added for ease of use. You need to be sure that any Essential oil products that you are considering are therapeutic grade and have no additives. Many labels say that the oils are “pure” so you may think that they are fine to use. Not the case. You can smell the difference between pure, perfume grade and therapeutic grade right away. We only use Young Living in our home as they use a special “Seed-to-Seal” ™ process where they control the fields, soil and quality of the oils.
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(visit www.youngliving.com to learn more about the process and safety) Remember - Anything you are ingesting, spraying in the air or putting on your body should be Nontoxic. Read labels (If a toothpaste says that you can’t swallow it, I would take that as a red flag).. Our kids , family & even pets may crawl on the ground, explore things by putting objects into their mouths, take baths and are often in their bare feet. The pores in our bodies take it all in! Many thanks to Sybille Kraft for her advice on diet, Dr. Ron Thibert ,Dr. Michele Palumbo at Mass General and the Angelman Syndrome Foundation for being such wonderful supports for us! If you would like additional tips you can reach me at: scaspert@gmail.com www.YLivewell.com
MARCH / APRIL 2015
Matthew’s Nightly Sleep Routine: • • • •
Epsom Salt Bath with lavender Put on PJ’s Turn on rain sound machine Diffuse 8 drops of lavender, I keep it on while he sleeps. (Home diffuser turns off when empty).
Try these tips or create your own.
Save the Date -- CASS Conference in 2016! The Canadian Angelman Syndrome Society will be holding its 14th International Conference from July 14th to 16th, 2016 in Edmonton, Alberta. Directors Terry Singleton and Kent Fleming are Conference Cochairs. Please stay tuned to the CASS website for News Flash Updates on this exciting event!
www.angelmancanada.org
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MARCH / APRIL 2015
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March / April 2015
Get ready to Walk! Join thousands of AS families at the ASF National Walk in May Registration is open! Register TODAY for the Angelman Syndrome Foundation National Walk on May 16*. Last year, nearly 10,000 individuals raised more than $1 million in support of AS research and family support services, and this year we hope to raise even more!
What’s new this year
This year’s Walk sites
You spoke, and the ASF listened: • The registration process has been streamlined and simplified—check it out! • You can now register as a Team and have one team fundraising page where all team members’ fundraising efforts contribute to the team’s overall total. Click here for more details. • The $25 minimum online fundraising goal per participant was implemented last year, and it worked! $56,000 MORE was raised in 2014 over the 2013 Walk, which funds one year of the Wagstaff Fellowship supporting AS research, or a small-scale clinical study or research grant. Imagine what can be done with another $200,000! • Fundraising prizes are BACK! The ASF has new and exciting prizes for individuals and teams who really knock it out of the park. Click here to check them out. Have questions? Give us a call! The ASF is always here to answer questions or help you with registration. Contact Kitty Murphy at kmurphy@angelman.org or call 800-4326435 for anything Walk related! A HUGE THANK YOU to all of our Walk Coordinators for their tireless efforts to make the 2015 ASF National Walk an even bigger success!
• Alabama (Huntsville) • Arizona (Tempe) • California (Los Angeles) • California (Sacramento) • California (San Diego) • Colorado (Denver) • Connecticut, (Hartford) • Florida (Orlando) • Illinois (Naperville) • Indiana (Indianapolis) • Kansas (Olathe) NEW • Kansas (Wichita) • Louisiana (Breaux Bridge) • Massachusetts (Boston) • Michigan (Rochester Hills) • Minnesota (Hutchinson) • Minnesota (International Falls) NEW • Missouri (Lake of the Ozarks) NEW • Missouri (St. Louis) • Nevada (Las Vegas) • New York (Buffalo) • New York (New York) • North Carolina (Durham) NEW • Ohio (Cincinnati) • Oregon (Eugene) new • Pennsylvania (Philadelphia) • Pennsylvania (Pittsburgh) • South Carolina (Columbia) • Tennessee (Nashville) • Texas (Dallas) • Texas (Houston)* • Utah (Salt Lake City) • Washington D.C. • Washington (Seattle) *Houston, TX ASF National Walk takes place on Sunday, May 17.
www.Angelman.org
(800) 432-6435
Int’l (630) 978-4245
info@angelman.org
2015 ASF Conference Updates NEW speakers and sessions So much to learn, and so many opportunities to meet experts and AS families! We are all on this journey together. New developments for the 2015 Biennial Conference in Chicago, July 16-18, include: • “Pop-in” discussions for families to network with experts and other families • Sibling panel, family forums, parent-to-parent sessions, and “Just For…” sessions • Keynote speakers addressing a variety of useful topics, including Dr. Stephen Calculator and Dr. Ron Thibert Much more to come!
Conference Scholarship details and FREE registration Included in the FREE registration for the 2015 ASF Biennial Conference is access to the 40+ Conference sessions, two continental breakfasts, and the Thursday evening Welcome Reception. Conference Scholarship applications now available, which provides financial aid to families who may not otherwise be able to attend, and funds up to three nights of hotel accommodations at the Hyatt Regency Schaumburg. Applications are due by May 8, 2015.
Check out the NEW ASF Walk T-shirt! Individuals with AS, children under 12, and all other registered Walkers who raise $25 online by April 20 will receive the newly redesigned Walk t-shirt!
International Angelman Day—THANK YOU! THANK YOU for spreading awareness of AS and raising funds for AS research during International Angelman Day! We at the ASF could not be more proud of this community and how it rallies together to work towards a brighter future for our loved ones with AS. International Angelman Day’s “$15 for the 15th” raised more than $5,600 directly for AS research, and a number of AS families braved the cold in New York City to appear on the Today Show on Friday, February 13th! THANK YOU for your perseverance and love for the AS community!
Upcoming Fundraisers Supporting the AS Community A tremendous thank-you to these incredible families, friends and supporters of the ASF and the AS community for hosting their own fundraisers to support AS research and other AS families. Without your support, much would not be possible! Mark your calendar for these upcoming events:
Charity Fishing Tournament Houston, TX On June 5, Jeremy Kraus is hosting an all-day charity fishing tournament featuring 30 teams of three or four players. A dinner will follow the tournament. More than 100 participants have already registered to participate!
Meerdo Golf Tournament Smithfield, UT Andy Meerdo has organized a $100 perplayer, 4-person golf scramble for June 19 at 7:00 am at Birch Creek Golf Course. Funds raised through the silent auction and a portion of the entrance fee benefit the ASF.
Tractor Cruise Brown County, KS Every year, the Olsen family hosts a 40-mile tractor cruise on the roads of Brown County on Labor Day weekend. This year is the 10th anniversary of the tractor cruise, which has raised more than $25,000 for the AS community since its inception. Andy Meerdo and his son, Zach
The Meerdo Family
www.Angelman.org
(800) 432-6435
The Olsen Family during the Tractor Cruise
Int’l (630) 978-4245
info@angelman.org
By Aisling Cullen Luke and Zach are identical twins (UBE3A) who will be 8 in May and are the youngest of six boys. We live in a little coastal village called Downings, Co. Donegal, Ireland. Living in a small rural community definitely has its advantages as the support that we get from family and friends cannot be bought. My family are involved in the hospitality trade, so everyone knows the boys and they are accordingly acknowledged wherever they go. It's lovely to walk in to the hotel and there's high 5's going on all around- little celebrities in their own right! The twins have very different personalities with Luke being the more serious and headstrong of the two. Zach just oozes devilment and loves nothing more than winding his brothers up and knows exactly which buttons to press. He is more sociable and outgoing and interacts immediately with others while Luke is more cautious, he sits back and accesses every situation and then decides what he will do or who he will play with. Zach loves playing with Lego and Magformers and Luke loves everything about his iPad. With the boys love of water we are spoilt for choices of lovely safe WWW.ANGELMANTODAY.COM
Angels in Action beaches where we spend most of our time during the summer months. Living in a house full of boys, we are a very active sporting family - boys don't know how to sit! We are a fanatical Gaelic football family and travel to most of our county's games. In my day I played myself and now I help coach the underage girls teams. When the twins were born I had dreams and visions of all 6 boys playing together on the one local team but that was all dashed with their diagnosis until last week where we have got 100% support from our local club to involve the twinshappy days! I think this is very important for them to be included in community activities as they don't attend the local school and it gives other children a chance to get to know them. Luke and Zach attend a special school about a 40 minute drive away, to me a little ironic that the school is called "Little Angels". They started there when they were 4 and after the first year myself and the principal decided it was best to separate them as it was a case of "double trouble" with Luke leading Zach astray. March / April 2015
They are now each in a class of 6 children with two SNA's in each class. Zach is streets ahead of Luke at school and I firmly believe it’s all down to seizure activity. We battled to get Luke's seizures under control while Zach has only ever had drop seizures twice. Luke has now been seizure free since May '14 and he's coming on leaps and bounds. In Ireland SLT/ OT/ and physio are free and they receive all these therapies during school. The boys have a few hand signs and I started them on P2go on their iPads last year without the support of their teachers and SLT. I feel the SLT is way behind here in Ireland, and I am still fighting them on the boys capabilities. Last year I had the pleasure of attending one of Mary-Louise Bertram's workshops here in Ireland and Zach's teacher attended also and afterwards she was converted!
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Luke and Zach are very close but can still fight the bit out like any typical siblings. Any time we are in the car they hold hands and when they are outside in the garden one always follows the other with the leader role always switching off. They will not share anything except with each other and swap everything dinner included, and Zach being Zach always fairs off better. Call me mad but I do believe they are telepathic and have night vision! The boys amaze us every day reaching different milestones as they teach us that the smallest things in life are the things that count the most.
Lá Fhéile Pádraig shona daoibh go léir – Happy St. Patrick's day to you all from the Cullen Family (Ireland)
March / April 2015
Angel Art Some people like to collect stamps, coins and my late mother used to collect mugs. I used to collect stamps when I was younger, and some of those who know me would say I like to collect a few things, but my most prized collection is my Angel Ink Collection. Growing up I didn't know many people with tattoos, so to have a tattoo would be something foreign to me. On 7 February 2011 we would be celebrating my son Elijah's 10th birthday. In our family the 10th birthday was an important one. I recall that my two sisters and I were given a wristwatch, which has always been special for us. I still have my watch, although not in working order. I wanted to do something special for Elijah's birthday, but things were different. Firstly, he had Angelman Syndrome and secondly was that he died in 2007, as a result of seizures, and so a watch was not going to be the appropriate gift.
I had been mindful of this for some months before and did my background work and decided that I was going to get a tattoo to mark this occasion. Not just any tattoo, but I was going to embark on having a portrait of him on my upper left arm. I decided where I was going to get it and I happened to see a voucher from Zealand Tattoo that offered a discount for tattoo work and so I went and cautiously invested my money in a voucher. I took in the picture I wanted as a tattoo and made an appointment. I had done some reading
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on an artist named Ray and thought he would be the man to craft this ‘ink’ for me. Wow! What a day - turned out that Ray was learning to live with the death of his brother some years before and so as he recreated Elijah's portrait on my arm we shared some special moments of connection. Wow! What an experience…
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I have written a blog about the Journey with Elijah since not long after his diagnosis in 2006. After Elijah died a friend encouraged me to continue to write it and so I have although these days not so often. I shared my portrait of Elijah as a blog entry. It occurred to me that other parents and relatives of individuals whose lives are impacted by Angelman Syndrome might also have "ink" and so I posted my image on Facebook and others started sharing their photos. I found parents like me who also had portraits of their children who had died. Over time more ink came out of the woodwork and more people have shared their ink.
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It can quickly become a starting point for discussions about our children or family member that creates awareness of Angelman Syndrome. I now always carry a picture of Elijah with me and so when talking about him I can reach for my sleeve and show people Elijah. I hope that you will enjoy the 60 + images I have in my collection. https://elijahangel.wordpress.com/angel-ink/ Please contact me if you have ink you would like to share as part of my collection @christosconcepts@gmail.com.
March / April 2015
Green Monster Smoothie
GF
Dairy Free
Ingredients: -½ Avocado -Kale
-Pineapple -Strawberries
-Banana -Coconut Oil Blend it all together and enjoy! WWW.ANGELMANTODAY.COM
March / April 2015
The FIND website goes live!
www.findresources.co.uk
The Cerebra Centre for Neurodevelopmental Disorders is led by Professor Chris Oliver at the University of Birmingham. The aim of the Centre is to conduct high quality research with children and adults with neurodevelopmental disorders. The Centre focuses on researching behaviour, cognition and emotions. The Cerebra Centre team has developed a novel online resource to improve the exchange of knowledge about rare genetic syndromes. The purpose of this website is to summarise research studies using a range of interactive and engaging formats, for example, parent stories, professional talking heads, bite-sized written information and an interactive database. The website is called FIND, which stands for ‘Further Inform Neurogenetic Disorders’ and has been developed initially for three genetic syndromes. This is the first time research on three syndromes has been brought together with the aim of making the findings from these studies accessible to a much wider population through videos, professional interviews and family stories. Image: Dr Jane Waite from the Cerebra Centre preparing for the launch of FIND. On the website you can find information on the physical, cognitive and behavioural
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characteristics of Angelman syndrome alongside information on diagnosis, genetics and health. All of these sections have been developed with the aim of communicating need to know facts to parents, carers and professionals. In addition, for each syndrome there is a section that includes information on the causes, assessment and intervention of behavioural difficulties that may present in Angelman syndrome. There are a number of family stories on the website as parents have kindly given up time to speak to the Centre about their experiences of parenting a child with Angelman syndrome. These are extremely interesting as parents provide unique insights and context for each of the areas covered by the website. Children and adults with Angelman syndrome have also contributed through “About Me” sections. One unique feature of the website is an interactive database, which allows visitors to ask questions on behavioural characteristics in the syndromes. It is designed so that visitors to the site can select the syndrome, age group and behavioural characteristic of interest from drop-down menus. Information is then presented in an accessible way through a question and answer format.
March / April 2015
Throughout the website there are links to existing web resources on Angelman syndrome and to the syndrome support groups as the purpose of the website is to complement existing information rather than be an exhaustive website on Angelman syndrome. FIND specialises in information on behaviour as this is the research area covered by the Cerebra Centre for Neurodevelopmental Disorders. Members of the Cerebra Centre team are keen to hear back from families about their experiences of using this resource so they can develop it further. If families are interested in getting involved by contributing information or family stories please email find@contacts.bham.ac.uk This project is funded by the Cerebra and the Economic and Social Research Council (ESRC). Article written by: Miriam Chaudhry, Effie Pearson and Hannah Ramshaw (Cerebra Centre Team) http://www.findresources.co.uk/the-syndromes/angelman
http://youtu.be/cK16tSB113EFind
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March / April 2015
Μερικοί
άγγελοι χρειάζονται
λίγη βοήθεια για να
πετάξουν!
15 Φεβρουαρίου Παγκόσμια Ημέρα Συνδρόμου Angelman (Άγγελμαν). Το Σύνδρομο Άγγελμαν είναι μια νευρο-αναπτυξιακή διαταραχή που επηρεάζει 1 στις 15.000 γεννήσεις. Χαρακτηρίζεται από αναπτυξιακή καθυστέρηση, επιληψία, δυσκολίες συντονισμού κινήσεων, διαταραχές ύπνου και έλλειψη λόγου. Τα παιδιά με Σύνδρομο Άγγελμαν μπορεί να μην μπορούν να μιλήσουν, ωστόσο μπορούν να επικοινωνήσουν με εναλλακτικούς τρόπους επικοινωνίας και μάλιστα έχουν πολλά να πουν. Μαθαίνουν με αργό ρυθμό, αλλά για μια ζωή. Τα παιδιά με Σύνδρομο Άγγελμαν έχουν ένα μοναδικό χαμόγελο, είναι ιδιαίτερα κοινωνικά, με ευχάριστη διάθεση και μπορεί κανείς να περάσει πολύ όμορφα μαζί τους.
www.angelman-syndrome.gr
facebook.com/groups/AngelmanGreece
Angelman Syndrome Greece www.angelman-syndrome.gr
www.facebook.com/groups/AngelmanGreece
“Whenever I thought of myself as a mother, it never crossed my mind that I could have a child with special needs.”
By Clairy Kourkouta
I always admired the families of special needs children so much and in fact I was saying that for people with special needs it’s really difficult to live in Greece, since common things such as government allowances, extra benefits, schools etc are things that someone has to look for by him/herself. A year ago and after a series of specialized tests, we found out that our sweet little girl, Olia has Angelman Syndrome, del +. By the time we got the results, we were sure that there was something wrong with her, but we never thought that it would be so serious. Our world simply collapsed. Questions like “Will she be able to go to mainstream school?” “Will she be autonomous?” and many more were in my mind. I remember myself crying a lot and at the same time trying to be calm and positive, because our second daughter Danae was only four months WWW.ANGELMANTODAY.COM
old and I was breastfeeding her. I wasn’t able to breastfeed our angel for more than a month and I wanted to offer that to Danae for as long as she and I could handle it, so being calm was quite important. A year has passed since her diagnosis and with joy I say that it wasn’t as difficult and scary as I thought it would be and our life hasn’t change so much. Yes, we have many therapies within the week, instead of ballet or painting lessons, but it’s not the end of the world. I have met amazing people who supported me and showed me that I am not alone. My emotions are so real and pure and at the same time I feel so strong and that I can overcome anything. Our angel will turn three years old next month. She continues to show her passion for life and how much she wants to understand and to achieve new things every day. We are really amazed by the things she has already accomplished. March / April 2015
This Christmas she gave us the best present. She made her first independent steps! Not many, she made 6-7 steps but it is a start. I truly believe since she did 6-7 steps, she will eventually manage to walk independently one day soon.
Furthermore, I find her clever; I see that she gets to choose when to respond on an order that we give her. If it’s for things she enjoys, then she responds perfectly, but when she doesn’t care she simply ignores us. So with much work, I know that one day she will be able to do many things by herself. Fortunately, we are lucky because she doesn’t suffer from seizures, we do take seizure medication, (when we got her diagnosis she did have two short absent seizures), but we didn’t have any since then. Olia since September is going to a mainstream kindergarten with great success. She managed to be less hyperactive, to be able to watch a small theater play, and to sit and eat in the kids dining area. She can play with her little sister. It’s adorable to watch the two of them together. Even when Olia hugs Danae and as you can imagine she does it in a clumsy way, Danae laughs and most of the times show that she enjoys it. She is only three and already she has accomplished so many things. I believe with all my heart, she will be able to accomplish much more throughout her life. Recently I realized that my biggest anxiety is not
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having a kid with Angelman Syndrome, but having a special needs kid and living in Greece is difficult. Greece is a small country, full of beauties and sun and full of friendly and open people, but sometimes this is not enough. Unfortunately, the procedures, the legislation regarding special needs people and the school choices are not clear and easy to find out. In other countries there are plenty choices for schools, for home daycare, and problems such as these are taken care of. Unfortunately, this is not the case. In Thessaloniki where we live, there are only four children with Angelman Syndrome or at least these are the families we managed to find. In Athens there are more cases but still not many.
So there isn’t an organization or a website yet; but this is nearly changing. Me with some other moms have worked hard and created the first Greek website (www.angelman-syndrome.gr) which will be launched at this year’s International Angelman Day! Also, I have created a poster in order to bring awareness. Our poster was a big success and not only was it placed at many spots in Thessaloniki, Athens and Cyprus, but it was also published to emagazines, blogs and websites. Moreover, I was asked to speak to a local but very well know radio station about IAD. Our next goal is to form an organization in Greece and I really hope in the coming years the Greek organization will be able to raise funds to donate them for the international goal of finding a cure. March / April 2015
Irish Luck Avocado Lemon Pie For 7 small pies (2gr of carbohydrate per avocado cup) -1/4 cup of mix nuts, (I use pecans and pistachio). -9 gr of carbohydrate. one tablespoon of butter, a pinch of salt, 2 drops of essentials lemon, or vanilla flavor. Mix in food processor until you obtain a paste. Fill out small cup cake with the nuts paste and keep in the fridge. Avocado lemon filling: Mix one half avocado (6 gr of carbohydrate) with one tablespoon of coconut oil and a small amount of lemon juice until you obtain a paste. Fill the cup with one small tablespoon of avocado lemon. Sprinkle with a mix of chia seeds and poppy seeds, keep in the fridge until you enjoy them! WWW.ANGELMANTODAY.COM
March / April 2015
Introducing a New York City Fashion Show to raise awareness for Angelman Syndrome Joanna Marcella a British designer and the founder of the Fashion Designers’ and Craft makers’ Network; would like to announce the insertion of an electrifying Collections Showcase in aid of Angelman Syndrome. Over thirty innovative international Fashion designers will be exhibiting their original collections at the first ever Angelman Syndrome Collections Showcase on Saturday 25 April 2015 at the Studio Arte, 265 West 37th Street, New York, NY 10018.
need round-the-clock care.
The Collections Showcase will provide a launching pad for up and coming emerging designers. The aim is to exhibit to a vibrant audience of consumers, fashionista’s and the press. Angelman Syndrome is an extremely rare condition that is characterised by laughter, energetic movement, hugs and a mutual fascination of all things shiny – including water.
Established press, bloggers and other media are invited to attend to cover the show; we’re also inviting up and coming; Make up Artists, Hair Stylists, Male and Female Models, Photographers, Stage managers, Presenters/Compares, journalists, Djs and Stewards to come and support as volunteers.
Those with Angelman Syndrome will typically have profound special needs, some physical disability, a significant lack of verbal skills, sleep disturbance and epilepsy as well as other possible complications. Angelman Syndrome does not reduce normal life expectancy but those with the condition will always
For more information: http://www.fdc-youngdesignerawards.com/ https://twitter.com/FDC_YDA http://www.facebook.com/pages/FashionDesigners-and-Craft-makersNetwork/190789304273133
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Joanna says, “I’m encouraged by Colin Farrell’s mission to raise more awareness. As a celebrity he is able to catch the attention of the media with the story of his own son. As a designer I and other members of the fashion industry can use this showcase to raise funds for the research, which will lead to treatments and eventually a cure.”
March / April 2015
Cont’d: The designers are: Marlene H' Couture, Lacie Cupani, Ekwerike chuma, Orli Penny, Simi Bakare, Linda Blissett, Chloe Mellen, Mireia Vidal, Vesela Zarankova, Michelle Kasujja, Chelsea Visda, Naomi Thompson, Lucy Moffat, Deviant ReBeL - Roberta Baker-Lundy, Mastura Kuzieva Mumtoz, Mozella Malone, Mireia Vidal, Jacqueline Ortega, Rean Fisher, Shronne Taylor, Aisha Ferozee, Louise Mason, Mood' Deo Couture, WWW.ANGELMANTODAY.COM
Michelle Sotelo, Sakinah Beverett-Llanos, Vicky Arthur, Malika Rajani, Yvonne Jewnell, Chanette Laing and Abbie Miriam Ivy Smith. Designers are from USA, Nigeria, Spain, Russia, France, and the UK. Proceeds will go to (FAST) Foundation for Angelman Syndrome Therapeutics http://www.cureangelman.org/
March / April 2015
Las familias Angelman México, nos reunimos por 2da. Ocasión a festejar el 15 de Febrero, Día Internacional del Sindrome de Angelman. El evento se llevó a cabo en Real del Monte, Hidalgo. Nos dio mucho gusto que nuestro grupo de familia va creciendo. Conocimos a nuevas familias, compartimos experiencias, realizamos dinámicas de integración, baile y lo mas emocionante fue cuando nuestros pequeños partieron pastel. Todo fue muy bonito! Fueron 11 familias las que nos reunimos. Gracias a Faby, Daniel, Rodolfo, Dayra, Luis, Eder, Rafa, Vale, Omar, Vale y Emilia por haber asistido.
Uno de nuestros principales compromisos es seguir difundiendo el Sindrome de Angelman y seguir buscando a mas familias. Recordando siempre que unidos somos mas fuertes. Nos vemos en Febrero 2016 en México, D.F. Saludos y un gran abrazo desde México, revista Angelman Today. Dinorah Toledo Ocampo y Antonio Gaytán (papás de Daniel)
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Angelman Families Mexico, met for the 2nd occasion to celebrate the February 15th, International Angelman Syndrome Day. The event took place at Real del Monte, Hidalgo. We were happy that our family group continues to grow. We met new families, shared experiences, performed integration dynamics, dancing and most exciting was when we presented our small split cake. Everything was very nice! There were 11 families that we meet. Thanks to Faby, Daniel, Rodolfo, Dayra, Luis, Eder, Rafa, Vale, Omar, Vale and Emilia for attending. Our main commitment is to continue raising Angelman Syndrome awareness and continue looking for more families. Remembering always that together we are stronger. See you in February 2016 in Mexico City! Greetings and a big hug from Mexico, Angelman Today magazine. Dinorah Toledo Ocampo and Antonio Gaytan (parents of Daniel)
March / April 2015
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March / April 2015
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March / April 2015
Emma and Matthew Intractable (Drug Resistant) Epilepsy; 1 in 104 people are affected with epilepsy in the UK** and over 50 million worldwide. It is one of the most common serious neurological conditions with approximately 30 different epilepsy syndromes and over 38 different types of seizures. The majority of cases of epilepsy can be treated successfully with modern anti-epileptic drugs (AED’s) used either as single agents or in combination. However, approximately 30% of cases are classed as having drug-resistant or intractable epilepsy, where seizures persist despite the appropriate use of two or more AED’s and the possibility of achieving seizure freedom with additional medication is extremely low. Ketogenic Dietary Therapies: The Ketogenic Diet was successfully used in the treatment of child and adult epilepsy in the 1920’s. As AED’s became more available the diet was used less and less often, with expertise being lost from all but a few centres. However, there has been a resurgence of interest in Ketogenic Dietary Therapies for children in recent years, due to its efficacy in otherwise intractable cases. The treatment has been clinically validated in a number of studies and a randomised controlled trial from Great Ormond Street Hospital (Neal et al 2008). WWW.ANGELMANTODAY.COM
Matthew’s Friends – The Background: Matthew Williams (20) suffers with a catastrophic form of epilepsy called ‘Dravet Syndrome’ and his seizures started when he was 9 months old. Emma, his mother, asked if Matthew could try the Ketogenic Diet when he was 2 years old, but she was told the diet didn’t work. So she battled on, trying innumerable medications which didn’t help Matthews’ seizures and which caused devastating side effects. Six years later, Professor Helen Cross began a research trial of the Ketogenic Diet at Great Ormond Street Hospital (GOSH). Matthew and 144 other children with severe epilepsy were enrolled on the trial. Within 2 weeks of starting the diet Matthew’s seizures had reduced by 90% and within 8 months he was off all medication. Sadly for Matthew, the damage had been done. Years of seizures had caused terrible brain damage, his family had broken apart and Emma was now a single mum to Matthew and his younger sister Alice. Inspired by Matthew, she set up Matthew’s Friends in 2004 to provide information, education, resources and support for other families. The charity, which was started at Emma’s kitchen table, grew at a phenomenal rate. Emma is not only the Founder/Chief Executive of the Matthew’s Friends Charity and Director of the Matthew’s Friends Clinics, but she also works as the Parent Representative for KetoPAG March / April 2015
(Ketogenic Professional Advisory Group for the UK and Ireland), she runs the UK Branch of the Glut1 Deficiency Foundation, acts as an International Patron for Desi (Diets for Epilepsy in India) and is also the only nonmedical member of the International League Against Epilepsy Global Task Force for Dietary Treatments for Epilepsy. Most recently she has been honoured with an MBE from HM the Queen for services to children with epilepsy.
Matthew’s Friends Today: Matthew’s Friends has a distinguished medical board, chaired by Professor Helen Cross, the Prince of Wales’s Chair of Childhood Epilepsy. It has raised over £70,000 for GOSH’s research into the Ketogenic Diet, as well as providing funding for numerous centres around the UK. 2011 saw the registration of Matthew’s Friends New Zealand and is currently forming a new branch in Canada, as the organisation expands to include these regions as well as being involved with over 20 other countries worldwide in supporting the use of ketogenic dietary therapies.
The charity has now expanded its remit to help adults that are failing medication with the use of the Modified Atkins Diet and Low Glycemic Index Treatment and works with the leading experts in this field. More recently the charity is now working in the field of certain types of brain cancer and ketogenic dietary therapies, although it is early days in the field, the contribution that Matthew’s Friends makes towards making these diets more widely available and ensuring it is properly supported is internationally recognised by both parents and medical professionals.
The Charity Provides: -A comprehensive website which hosts a busy parental support forum and medical forum as well as providing latest research and information on dietary therapies.
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-A helpline which is available to families 365 days a year. -National and International workshops and conferences for both patients and epilepsy health-care professionals. -An International network which includes USA, Canada, Australia, New Zealand, South Africa, Holland, Denmark, India, Hong Kong, Malta, Turkey and Portugal. -A Professional Advisory and Training Service. -Educational literature, Ketogenic Diet starter packs and Patient files supplied free of charge to all UK Ketogenic Centres for their patients. -Matthew’s Friends Clinics – providing Ketogenic Dietary Therapies for all who are currently unable to gain access to local services. NONE OF THIS IS POSSIBLE WITHOUT......
Fundraising Matthew’s Friends do not receive any government funding and are totally reliant on fundraising and donations. By the time our families find us they are usually in a VERY bad way, dealing with a worrying and fraught situation, often fearing for their child’s life. Asking them to fundraise at this time to help provide services is not desirable, therefore the small Matthew’s Friends team have cajoled and badgered their friends and families to help fundraise over the years. We welcome ALL help and are delighted to provide resources such as a justgiving page for sponsored events, running vests, sponsor forms, tshirts and anything else that we can for those willing to support us. Please do contact us if you can help. CONTACT: Telephone: Julie Edwards 01342 836571 Email: julie@matthewsfriends.org Matthew’s Friends c/o Young Epilepsy, St Piers Lane, Lingfield, Surrey RH7 6PW www.matthewsfriends.org & www.mfclinics.com ** JEC (Joint Epilepsy Council) 2011 statistic March / April 2015
CONTRIBUTORS
Marilyn Kennedy Assistant Editor
Professor Chris Oliver and his team at FIND
Sybille Kraft Bellamy
Additional Contributors: Joanna Marcella (of Fashion Designers’ and Craft makers’ Network)
Aisling Cullen Shari Caspert Darren Humphries Clairy Kourkouta
All of the Angelman and Associated Foundations across the globe
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A big thanks to all of the contributors that help bring you Angelman Today!
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Angelman Today is a lifestyle guide to achieving better health for individuals with Angelman Syndrome and their families. It is written with your needs in mind but is not a substitute for consulting with your physician or other health care providers. The publisher and authors are not responsible for any adverse effects or consequences resulting from the use of the suggestions, products or procedures that appear on this website or online magazine. All matters regarding your health should be supervised by a licensed health care physician. Copyright 2014 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
March / April 2015
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The History of Angelman Syndrome Dr. Harry Angelman was an English physician who identified what is now known as Angelman Syndrome. He first observed three children who were not related but showed similar symptoms of severe intellectual delay; stiff, jerky gait; lack of speech; seizures; motor disorders; and happy demeanors. Although Dr. Angelman was born in Birkenhead, England, he was an enthusiast for the language and country of Italy. And it was 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 he’d observed, 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, “puppetlike” 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.
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