Angelman Today

INCLUDING RESOURCES ● RESEARCH ● INSPIRATION

digital magazine

www.angelmantoday.com

LGIT Recipe

Angel Art International

Angelman

Day

2015

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

WWW.ANGELMANTODAY.COM March / April 2014

EDITOR’S LETTER

March - April

EMAIL: LIZZIE@ANGELMANTODAY.COM

FOLLOW: TWITTER.COM/LIZSORDIA

FOLLOW: TWITTER.COM/ANGELMANTODAY

5

5

Aromatherapy and Angels…………………4 Angels in Action...…………………….…..10 Angel Art……….…………………………..11 Green Monster Smoothie…….................14 FIND Further Inform Neurogenetic Disorders...15 Clairy Kourkouta Family Story……………………………….18 Irish Luck Avocado Lemon Pie………………..……..20 Angelman Syndrome Collection’s Showcase…………….……..21 The History of Angelman Syndrome (Spanish)……………………………..........30 Stay Connected…………………………...31 History of AS……………………….….…..32 Parent Recommended Books..………….33

What’s inside

Angelman and Associated

Foundations Canadian Angelman Syndrome Society………………………5 The Angelman Syndrome Foundation………………………….…...7 The Charlie Foundation……..………..11 Angelman Syndrome Greece……………………………..…..17 Angelman Switzerland…………….….22 Angelman Syndrome Mexico…… ……………………..…..…23 Matthew & Friends……………………26

30

Cover:

Twin Brothers

Luke and Zach

Culen, age 8

Photo provided by:

Aisling Cullen

18 11

20 23

15

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.

(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 Non-

toxic. 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

Aromatherapy and Angels By Shari Caspert, Mom of 18- year old Matthew

What are essential oils and how can they help my family?

WWW.ANGELMANTODAY.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 Co-

chairs.

Please stay tuned to the CASS website for News Flash Updates on this

exciting event!

www.angelmancanada.org

WWW.ANGELMANTODAY.COM MARCH / APRIL 2015

WWW.ANGELMANTODAY.COM March / April 2015

www.Angelman.org (800) 432-6435 Int’l (630) 978-4245 info@angelman.org

Get ready to Walk!

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 yearYou 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 800-432-6435 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!

Join thousands of AS families at the ASF National Walk in May

This year’s Walk sites• 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.

Get ready to Walk!

2015 ASF Conference UpdatesNEW speakers and sessionsSo 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 registrationIncluded 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!

www.Angelman.org (800) 432-6435 Int’l (630) 978-4245 info@angelman.org

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!

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:

Meerdo Golf TournamentSmithfield, UTAndy Meerdo has organized a $100 per-player, 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.

Charity Fishing TournamentHouston, TXOn 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!

Tractor CruiseBrown County, KSEvery 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 The Olsen Family during the Tractor Cruise

Upcoming Fundraisers Supporting the AS Community

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

By Aisling Cullen

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 twins-

happy 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.

WWW.ANGELMANTODAY.COM March / April 2015

Angels in Action

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!

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)

WWW.ANGELMANTODAY.COM March / April 2015

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

Angel Art

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…

WWW.ANGELMANTODAY.COM MARCH / APRIL 2015

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.

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.

WWW.ANGELMANTODAY.COM March / April 2015

Green Monster

Smoothie

Ingredients:

-½ Avocado

-Kale

-Pineapple

-Strawberries

-Banana

-Coconut Oil

Blend it all together and enjoy!

WWW.ANGELMANTODAY.COM March / April 2015

GF Dairy

Free

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

The FIND website goes live!

www.findresources.co.uk

WWW.ANGELMANTODAY.COM March / April 2015

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.

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://youtu.be/cK16tSB113EFind

WWW.ANGELMANTODAY.COM March / April 2015

http://www.findresources.co.uk/the-syndromes/angelman

λίγη βοήθεια για να

πετάξουν!

άγγελοιΜερικοί

χρειάζονται

facebook.com/groups/AngelmanGreecewww.angelman-syndrome.gr

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

www.facebook.com/groups/AngelmanGreece

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

Angelman Syndrome Greece

“Whenever I

thought of

myself as a

mother, it never

crossed my

mind that I

could have a

child with

special needs.”

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.

WWW.ANGELMANTODAY.COM 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

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 e-

magazines, 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.

WWW.ANGELMANTODAY.COM 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.

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.

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

need round-the-clock care.

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.”

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.

For more information:

http://www.fdc-youngdesignerawards.com/

https://twitter.com/FDC_YDA

http://www.facebook.com/pages/Fashion-

Designers-and-Craft-makers-

Network/190789304273133

WWW.ANGELMANTODAY.COM 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,

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/

WWW.ANGELMANTODAY.COM 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)

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)

WWW.ANGELMANTODAY.COM March / April 2015

WWW.ANGELMANTODAY.COM March / April 2015

WWW.ANGELMANTODAY.COM March / April 2015

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).

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

WWW.ANGELMANTODAY.COM March / April 2015

Emma and Matthew

(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 non-

medical 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.

-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, t-

shirts 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

WWW.ANGELMANTODAY.COM March / April 2015

Thank you! A big thanks to all of the contributors that help bring you Angelman Today!

Angelman Today Supporters:

E-Z-On Products www.ezonpro.com

All of the Angelman and

Associated

Foundations

across the globe

Additional Contributors:

Joanna Marcella (of Fashion Designers’ and Craft makers’ Network)

Aisling Cullen

Shari Caspert

Darren Humphries

Clairy Kourkouta

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.

CONTRIBUTORS

Marilyn Kennedy

Assistant Editor

Professor Chris Oliver

and his team at FIND Sybille Kraft Bellamy

Dr. Harry Angelman

1915 – 1996

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.

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.

La Historia del Síndrome de Angelman

WWW.ANGELMANTODAY.COM March / April 2015

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Dr. Harry Angelman

1915 – 1996

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.

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.

The History of Angelman Syndrome

WWW.ANGELMANTODAY.COM March / April 2015

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