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Welcome to the winter issue of the Information Point newsletter. This issue is packed full of news and I am over the moon with all the contributions that have been received - the newsletter would not be possible without these contributions, so a big thank you to all of you, who have shared your story this time around. As always, there is news from the Myotubular Trust, including a special feature by Zak Hughes on ways you can help raise money for the charity. Also, news from the Foye Myopathy Project, an update on plans for the US Family Conference and some other lovely features from people living with Centronuclear / Myotubular Myopathy. The Information Point webshop has now raised £565.66 but this Christmas you could help us raise even more. I hope you will consider doing your Christmas shopping there this year. Every purchase made via the web shop generates commission. Simply add the shop to your cookies / preferred settings, so that your purchases can be logged, then start shopping. Commission rates vary, starting at a few per cent but going up to as much as £85 for a single transaction. The Information Point does not retain any of the money raised for administration or any other purpose - all the money raised is donated to the Myotubular Trust (UK) and the Beggs Laboratory (USA). Following on from our last newsletter, the Information Point Facebook group now has 35 members from around the world and the Cause is being supported by 166 people. If you haven't visited the group, I would love you to join and also invite your friends and family to help raise awareness of CNM / MTM by joining the cause and showing their support of it on their Facebook profile page. I hope you will enjoy reading this latest issue of the newsletter - if you have any ideas for future newsletters or are involved in any projects, meetings or get togethers over the coming months, please do let me know about them, so they can be included in the next issue. Wishing everyone a happy, healthy and peaceful holiday season.
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New Communication and Education Officer 
The Myotubular Trust has recently taken on a new member of staff; Melanie Spring is the Trust's new Communication and Education officer, as a consequence of a very generous private donation, specifically given to the Trust so that they could fund this role for 18 months. Anne Lennox and Wendy Hughes, the founding parent trustees say 'The Myotubular Trust is run on an entirely voluntary basis and all funds raised go into research and research only, so this donation to help with our ongoing work is very welcome'.
Melanie already knows much about Myotubular Myopathy and has been a supporter of the Trust for some time. Melanie says, 'I have been a friend of Anne for more years than I care to mention and consider myself blessed to have been a small part of Tom's short life. I was with Anne, Andrew and Sophie, in hospital, within hours of Tom's birth and then stood by helplessly as they came to terms with Tom's diagnosis, following weeks of endless tests. I am still in awe of the journey that Anne and Andrew then had to travel; learning to suction their darling baby boy, feeding Tom by tube, the unending stream of medical professionals coming in and out of their home, the worries that every cold brought and the many scary situations that they dealt with. All this whilst still running a home, working and being devoted parents to my wonderful goddaughter, Sophie'. Melanie and her husband have both taken part in the London 10k in memory of Tom Lennox and Melanie's eldest son Jack has been involved in a number of events for the Trust, including raising £300 in sponsorship when he broke his leg, by having his leg cast in Myotubular Trust pink. Jack then continued to raise funds with a school friend, by writing magazines which they sold to friends; his class also took part in the World's Longest Bunting Line project. Currently Jack is recruiting a group of school friends to take part in a 'Curryathon' for the charity. Melanie's younger son Harry is soon to do a sponsored swim - he plans to swim 25 lengths which would be a personal best. Melanie says 'as a consequence of my connections with Anne, Andrew, Sophie, Tom and Rory, and having lived and breathed the stories of other children that Anne has told me about, I am passionate about doing what I can to help the Myotubular Trust in their determination to raise research funds towards finding a cure for Myotubular Myopathy'. Melanie is looking forward to getting to know everyone in the coming weeks and months and looking forward to moving the Trust in to its next exciting phase. Should you wish to get in touch with Melanie, she can be contacted by email at melaniespring@myotubulartrust.com. The Myotubular Trust is now in a position to fund projects that will help find a cure and / or a treatment for any of the three known types of Myotubular Myopathy, focusing on research that would not generally be funded by public or industrial funding sources. A Scientific Board which is chaired by Professor Francesco Muntoni of The Institute of Child Health, University College London, has now been set up, to make recommendations to the Myotubular Trust trustees on which projects to fund and the Trust is currently holding a first call for projects. Applications may be made for: Project Grants Applications will be considered from the Principal Investigator for projects of 2 - 3 years duration to be carried out by a Post Doctoral researcher, or PHD student.
Applicants will have identified a host institution and will be undertaking a basic science project of 3 - 4 years duration. Continuation of Existing Research Project The Trust may be willing to fund the continuation of an existing research project (but not to fund a project that is already being funded by another body). Please Note: This call is open to European research bodies only and the lead applicant and point of contact must be in Europe also. Applicants will normally be expected to hold tenured or tenure-track appointments. If the grant requires ethical approval and / or government licences for animal work, the award is dependent upon the requisite approvals being granted. Application forms are available from the Myotubular Trust website. The deadline for completed applications is 5 p.m. GMT on Friday 19th December 2008, with awards anticipated to be made in April 2009. Please email research@myotubulartrust.com with any queries relating to this call for projects.
My name is Zak; I am 12 years old and I have Myotubular Myopathy, and I am writing this newsletter for the Myotubular Trust as part of my work experience for Enterprise week at my school. I thought I might tell you about some nice things you can do which will help our charity. If you are looking for funny, modern or traditional quality Christmas cards this year, make sure to look on http://www.charitycards.co.uk/charities/myotubulartrust who are donating 7.5% of sale proceeds on standard cards (no charity logo), and 10% of sale proceeds on personalised cards (featuring our charity logo) to the Myotubular Trust! They're really easy to order online! If you want some Myotubular Trust stickers to put on your standard Christmas cards please email us and we will send you some! To get bargain prices without having to fight the Christmas crowds, visit http://buy.at/theinformationpoint where you'll find all your favourite high street shops. If you shop online by clicking the link, a percentage of your purchase will go to the Myotubular Trust at no extra cost to you. Do you donate to charity regularly by standing order? If so, perhaps you would like to donate a few pounds each month to help fund research into Myotubular and Centronuclear Myopathy. Anyone who likes music might already know that Natalie Anderson, ITV actress and friend of the Myotubular Trust, has just released her debut single; it is called 'Did I' and is available in store at HMV, online at Townsend Records, and available to download at iTunes and other online retailers. Natalie has been really helpful to the charity, and even has a link into the charity web page from her own website, www.natalieanderson.co.uk. We hope she gets lots of record sales. If you donate regularly by standing order, shop, or buy Myotubular Trust Christmas cards I would like to say thank you on behalf of myself and all the other children affected by MTM and CNM, we are all very excited about finding a cure! Best wishes, Merry Christmas and happy shopping from me, Zak Hughes NOTE: You can also help raise funds for the Myotubular Trust by sending online Christmas cards. For a small charity donation (from as little as £5 for 100 recipients), you can design and send your own card, with even your own photo or video footage. If you are a UK resident 121%* of your donation will go to Myotubular Trust. It's really simple:
* Using Gift Aid means that for every pound given, the Myotubular Trust will receive an extra 28p from HM Revenue and Customs, helping each donation go further at no cost to you.
It is early days but plans are now underway to set up a Myotubular Trust in Australia. The new arm of the charity is being spearheaded by Simone Burley of Brisbane Australia (see the Christmas lights feature later in this issue) who is hoping to have things up and running as soon as possible. Simone says, 'I decided to set it up in Australia so that we wouldn't loose so much of the funds in converting to pounds and also we have heard that there is some research happening over here. I have also connected with another Mum who lives about 2000 kms away in Melbourne who has a baby with X-linked MTM - she is very keen to fundraise and has some things in the pipeline'.
Professional performer Mr Iain Hunter from the village started the night off in full swing, singing in the style of Frank Sinatra, Dean Martin, Nat King Cole and Neil Diamond and was accompanied by The Fabulous LA Dance Showgirls - Pathhead's very own Las Vegas style dancers. Everyone danced the night hours away, and for those with a penchant for gambling there was even a Roulette Table, Black Jack, Chuck a Luck and a Raffle and all for just £10 per head including a hot snack. The night, attended by over 100 people, raised an incredible £1,654.42 for the Myotubular Trust. The main organizers for this event, Gail Brown, Pamela and Iain Hunter, Carol Leslie and Leanne Yorke of La Dance, were helped by many other members of the local community. They were really bowled over by everyone's generosity, receiving many raffle prizes and other contributions from local businesses and shops was such a boost' said Pamela. Gail Brown said 'Having been friends with Joshua, a child with Myotubular Myopathy, it was so important to myself and family to raise awareness of the condition and the Trust and to contribute in a charity event that would benefit a cause which is so close to my heart'. The Myotubular Trust are very grateful to everyone involved in making 'Path Vegas' a big success and for their overwhelming generosity for the charity. Enjoy a Taste of Iain Hunter and The Fabulous LA Dance Showgirls on YouTube. ______________________________________________________________________________________ Back to Top
The event was organized by Mark and Michelle Huang, who have been friends with Patrick and Sarah Foye for over a decade. The Foye family would like to thank Mark and Michelle and all the donors, sponsors and volunteers who made the event so successful.
ArtWorks Express Yourself - New Jersey took place on Sunday 16 November 2008. The event was a creative and performing art exhibition featuring pieces by children and young adults contributed from nine New Jersey hospitals. It also included work from the siblings of chronically ill children. The event was made possible through the creative minds of its participants, the support of 9 local hospitals, the ArtWorks Naomi Cohain Foundation and the Church and Dwight Employee Giving Fund, Inc. Below Sarah Foye describes the event, which her son Adam took part in.
The room is packed. The excitement in the air is palpable. The APC Rhythm A Capella group from NYU take the stage. The auditorium at the Montclair Art Museum fills with the symphony of their voices and the performance begins. In the minutes leading up to the live performances, young adults and children with chronic illnesses and their siblings, friends and families gathered. They came with their braces, wheelchairs, breathing tubes, scars or with scarves covering their heads, their hair lost to cancer. Whatever way they arrived November 16, they all came with the excitement of being able to share and express themselves through art. The live performances from children ages 3 to 16 brought the audience on an emotional roller coaster from laughing to being moved to tears. The event included a lively dance performance by Meaningful Movements, an organization committed to offering developmental, dance and exercise classes for both children and adults of all abilities. My son Adam, age 7, had a chance to display his art and to perform a song that he wrote. Adam was hospitalized at St. Barnabas Medical Center last summer from an illness complicated by Centronuclear Myopathy. While he was hospitalized, Adam had the opportunity to work with the wonderful child-life team members, Bethany Garvin and Melissa Cook. With their support, Adam created some art and music that helped to take his mind of the medical treatments he was getting. Adam said he loved being able to participate in the ArtWorks program because it allowed him to share his art with others. At the close of the performance, the performers took their final bow with the whole room swaying to the words of the song 'Seasons of Love' from Rent. The lyrics captured the spirit of the event. How do we measure the minutes of the year? 'Laughter? Strife?' Yes, everyone in the room had had their share. The answer is simple, we 'Measure in LOVE'. Whether it was as an audience member or as an exhibitor / performer, all who attended this event left with an appreciation for expressing both the struggles and beauty of being alive and this November that is something to be truly thankful for.
Earlier this year, Adam Foye had the opportunity to take part in the 2008 MDA Telethon, where he acted as a child MC, introducing Tony Orlando, with whom he is pictured opposite. Contributions and pledges raised by the annual event totalled a record breaking $65,031,393. The money raised will enable the Muscular Dystrophy Association to fund research to find treatments and cures for Muscular Dystrophy and related diseases. Funds also support hundreds of MDA medical clinics; send thousands of children to MDA summer camp; and provide assistance with the purchase of equipment such as wheelchairs and leg braces.
You can find out more information at the conference website, learn how you can help with fundraising for the event and register to receive news, as it occurs. ______________________________________________________________________________________ Back to Top In the last newsletter, I asked for photos and stories of family get togethers. Below are the photos that were received, along with the stories behind the photos and thoughts on what the meetings meant to the people involved.
Adam Foye has Recessive MTM and Zak Hughes has X-linked MTM. Sarah Foye says, 'it was great for the boys to connect and we were delighted to meet Wendy'.
The Foye family met Wanda Santory and family and the Khuris family at an Irish fundraiser for CNM / MTM in September 2007 ...
... they also met the Lawton family in New York City in July of 2008. Sarah Foye said 'I found the meeting extremely helpful as Donna and Charlie are full of great medical knowledge and their Mitchell is a few steps ahead in age, so we could get some advice from them about what to expect'.
The Lennox family from the UK and the Burley family from Australia, met in Australia in 2008. Simone Burley said of the meeting, 'we consider the time spent with Anne, Andrew and Sophie the highlight of our year'.
It has been great seeing these photos of families connecting with one another and would be lovely to make this a regular feature - if you would like to include your story in the next newsletter, please get in touch.
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For the past 2 years Simone and Anthony Burley of Brisbane, Australia have created a Christmas lights display to delight their sons and the other children in their neighbourhood, raising a massive £1,716,37 (Australian $3,730) for the Myotubular Trust. Sadly, three years ago, the Burley's eldest son Trent, then aged five, passed away from Myotubular Myopathy. Their youngest son, Zac, also suffers from the condition. Like all rare diseases, it is very difficult to attract research funding, despite the severity of its impact on children, so the Burley's decided to donate the money raised by the displays to The Myotubular Trust, to support research into better treatments, or hopefully, a cure, in the hope that one day a diagnosis of Myotubular Myopathy will not mean certain death for a child.
If you live in the Northcote Street area of Brisbane, the family would love you to visit and leave a donation in their collection tin. Alternatively, you can donate to the Myotubular Trust online. Christmas Lights Fundraiser Flyer. ______________________________________________________________________________________ Back to Top
The best of Herefordshire's artistic community displayed their work earlier this year in an exhibition, described as a unique celebration of local artistic talent and an exploration of how living in the area inspires local artists. This year the event included delicate porcelain work by Georgina Fowler entitled 'Four Circles, Four Squares, Two Vessels'. Georgina who has Myotubular Myopathy, is a second year student at Hereford College of Arts, studying BA (Hons) Contemporary Applied Arts and has also exhibited her work at the Royal Brompton Hospital London. Georgina says 'My inspiration for this work came from exploring and looking at postage stamps from around the world. I was fascinated by the variations, images and franking of the stamps, I took different elements from the stamps and then layered them, exploring and working with different sizes. From my own drawings of these images, I then screen printed (using stoneware glazes) onto porcelain slabs to create these decorative pieces'. Read More From the Hereford Times | View More of Georgina's Designs
______________________________________________________________________________________ Back to Top An exciting new project that recently won funding from the European Commission is now underway to develop a DNA chip that will enable the quick, cost effective and reliable sequencing of multiple neuromuscular genes. Working closely with TREAT-NMD and including a number of TREAT-NMD partners, the NMD Chip Project brings together participants across Europe and collaborators in the US. Many neuromuscular disease therapies currently in development require a precise genetic diagnosis that identifies the precise mutation causing the disease but current methods of genetic testing are expensive and time consuming, so testing is not always available to patients. However, new technologies involving DNA chip arrays designed to examine all possible mutations in the relevant genes in a single step process, have the potential to extend the availability of genetic testing to more patients by making the procedure dramatically cheaper and quicker.
The Registry of Outcome Measures is an online database that provides the neuromuscular community with information about existing outcome measures. Outcome measures are tests that investigators perform to decide whether a treatment being tested in a clinical trial is having any effect, for example assessing how far a patient can walk in six minutes or looking at changes in their muscle through a biopsy. Using the right outcome measure is a vital step in making sure a trial can really prove whether or not a treatment works. The database is now online and going through the early stages of data population but it is hoped, in time will provide a comprehensive set of records for existing outcome measures used in Neuromuscular Diseases. Contributions to the Registry Records are from experts from around the world. In some instances these are the authors of the outome measure; in others they are individuals who have built up significant knowledge of an outcome measure through repeated use and / or research. ______________________________________________________________________________________ Back to Top
Rare Disease UK is an alliance of patients, doctors, specialist researchers, health care planners, politicians and industry in pursuit of high quality healthcare for patients and families living with rare disease. A rare disease is defined in the EU as having a prevalence of less than 1 in 2,000 people. Over 6,000 rare diseases are currently identified and 15 million people are believed to have a rare disease in the EU. For those affected by rare diseases, getting access to services can be difficult, finding expert help is often a matter of chance and although a rare condition may only affect a few families, because there are so many rare diseases, many hundreds of thousands of families struggle to get the services they need. Rare Disease UK will campaign for the adoption and implementation of National Plans in each of the UK's home nations. These plans should ensure provision of integrated services tailored to the specific needs of those with rare conditions, they will help make best use of NHS resources and ensure that scarce clinical expertise is deployed to benefit the patient in the best possible way. Visit the Rare Disease UK website. ______________________________________________________________________________________ Back to Top Biologists have constructed a genetic map of Europe showing the degree of relatedness between its various populations. All the populations are quite similar, but the differences are sufficient that it should be possible to devise a forensic test to tell which country in Europe an individual probably comes from, says Manfred Kayser, a geneticist at the Erasmus University Medical Center in the Netherlands. On the right, the map shows, the location in Europe where each of the sampled populations live and on the left, the genetic relationship between these 23 populations. The map was constructed by Dr. Kayser, Dr. Oscar Lao and others and appeared in an article in Current Biology earlier this year. The genetic map of Europe bears a clear structural similarity to the geographic map. The major genetic differences are between populations of the north and south (the vertical axis of the map shows north-south differences, the horizontal axis those of east-west). The area assigned to each population reflects the amount of genetic variation in it. Read More About the Genetic Map of Europe. ______________________________________________________________________________________ Back to Top Contact a Family has updated its guide, 'Dealing with debt - England and Wales' and has brought out the following new guides:
Podcasts
The podcasts explain the main criteria for claiming, how to claim and where to get further support in claiming. If you are experiencing financial difficulties you may be able to get help for important costs that are hard to pay for out of your regular income. The Social Fund can provide lump sum payments, grants and loans for a range of different situations, for example, crisis loans. If you claim certain benefits you may receive a request to attend a work focused interview. The podcast provides information on why it is important for you to attend a work focused interview, the consequences of not attending and the general format this interview would take. Benefits for young people with disabilities are changing, and it's an important time to get advice about what options are available. This podcast has been created as a short overview of the current rules and to highlight changes ahead. To listen to the podcasts visit http://www.cafamily.org.uk/news/podcasts.html. Changes in Payment Method of DLA For more information on any of these issues, visit the Contact a Family website ______________________________________________________________________________________ Back to Top
The 'Going Places' report which highlights the barriers to disabled youngsters accessing fun and activities was recently launched by Schools Secretary Ed Balls. The report describes a range of barriers including negative attitudes from other children, lack of access to play equipment and lack of training in disability equality for staff in council play schemes and leisure facilities. Every Disabled Child Matters is calling on the government to deliver on promises made in its Play and Youth strategies and ensure disabled children are given the same opportunities for play and leisure as their non-disabled peers. Read how child and young people think place can be made better for them. ______________________________________________________________________________________ Back to Top
Family Fund Extra aims to help families make their money go further by offering a variety of discounted goods and services like electrical products and holidays. It will also allow supporters of the Family Fund to make a difference to disabled children through donations and 'donate as you shop' opportunities. If you care for a child or young person up to the age of 25 years old and would like to benefit from the discounts and services, register now at the Family Fund Extra website. ______________________________________________________________________________________ Back to Top
A new system of assessing eligibility for the Blue Badge is also being developed with the aim to standardise assessments throughout the country. Other proposals include extending the scheme to injured active and ex-service personnel and additional efforts to fight fraud and abuse of the Blue Badge scheme. Further information is available on the Department of Transport website. ______________________________________________________________________________________ Back to Top
Creature Discomforts, which features Aardman's hallmark plasticine animations, was launched in November last year, and the second series of the campaign ran throughout the summer. The campaign challenges people to change the way they see disability and the characters are based on the unscripted voices of disabled people talking about the issues that affect their lives.
The games are fun and easy to play but also make a serious point with humour; the games include:
The campaign is already making an impact with more than a third of people admitting that they have more to learn about disability and one in ten saying that they now know that they need to behave differently to disabled people. This Christmas, the Creature Discomforts characters can also be found on Christmas cards and e-cards which can be ordered online, alternatively you can telephone 01948 831089. ______________________________________________________________________________________ Back to Top Remember! Don't throw away your toner cartridges and mobile phones - every year more than two million printer cartridges and 15 million mobile phones are disposed of in landfill sites in the UK. You can stop this waste by joining a recycling programme and in turn raise money to help people with neuromuscular disorders. • One cartridge can be worth up to £6 and could help provide vital information to a newly diagnosed family. To learn more, email the Muscular Dystrophy Campaign or Telephone: 020 7803 4800. Used postage stamps from are also valuable and should be sent to the Muscular Dystrophy Campaign, 61 Southwark Street, London SE1 0HL. ~ Visit the Information Point for Centronuclear and Myotubular Myopathy ~ Winter Themed Images from
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Firstly, let me introduce myself and tell you why I'm writing. 
On Saturday the 22nd of November, Vegas came to Pathhead in Midlothian, in an all evening extravaganza called 'Path Vegas'.
Made in Herefordshire
Leonard Cheshire Disability has recently launched a new games package as the next phase of its award winning Creature Discomforts Campaign. 
