“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.”
Editor – in – Chief
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 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
(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 does 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.
Telephone: Julie Edwards 01342 836571
Matthew’s Friends c/o Young Epilepsy, St Piers Lane, Lingfield, Surrey RH7 6PW
** JEC (Joint Epilepsy Council) 2011 statistic
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:
By Clairy Kourkouta
“Whenever I thought of myself as a mother, it never crossed my mind that I could have a child with special needs.”
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 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.
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.
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 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 firstname.lastname@example.org
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)
By Darren Humphries
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 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…
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.
Please contact me if you have ink you would like to share as part of my collection @email@example.com.
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 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.
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)