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Welcome to the latest issue of the Information Point newsletter and the first issue of 2008. A number of events to raise money and awareness of Centronuclear and Myotubular Myopathy are already planned for this year. The Myotubular Trust will be once again be taking part in the London 10k, there is a new event for those who prefer to take life at a gentler pace - the Thames Walk and in May my sister Rachel will be running the Chester Half Marathon. Go Rachel! Across the pond, the Joshua Frase Foundation started the year with a family event in Boston and other news from the USA, is that the CETT grant, which Pat and Sarah Foye of the Hope to Cure Campaign applied for, towards the end of last year, has now been granted, meaning that clinical testing for the Dominant form of CNM will be available shortly. On a personal note, I recently started studying with the Open University on a course, which should, if things of to plan, be my final course for a standard degree. The course, is quite different to any I have done previously and rather than an exam, this year, I am required to undertake a project. Feedback is going to be invaluable to me during the course, so I have set up a design project blog to report on my progress and I hope you will drop by to learn more about my work and get involved by taking part in the activities and sharing your views on the project. (To those of you who have taken the time to contribute already - thank you). Over the past couple of months, I have considered a number of project ideas - I have now submitted a project proposal for a motorised vehicle for a child with a disability and if I can obtain sufficient input over the coming months, I would like to think that maybe, at the end of the project, the ideas could be submitted to manufacturers of such vehicles for consideration as possible improvements to their products. Should my first choice project not prove possible for any reason, I will look at doing either the medical alert or building access project. As a result of my course, I have learned of a number of design charities which specialise in designing one off pieces of equipment for disabled children - the work of two of these amazing charities, MERU and Remap, are featured here, together with a round up of everything that has been going on in the community over the past few months. I hope you will enjoy reading the news that makes up this issue. If you are involved in any events over the coming months, please get in touch, so that these can be featured in the next issue later this year.
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The Information Point webshop has now raised £421.57 - thank you everyone for your continued support. Here are some of the offers currently available:
There are also some excellent commission rates being offered in the financial area.
Other companies include Birmingham Midshires Building Society, AIG, ASDA Finance, Co-operative home insurance, Ibuyeco, and Zurich Insurance. If you are looking for a new credit card, Egg and Co-op cards cards can be applied for through the shop with commission of £15 and £20 respectively for all accepted applications. An Important Note about the webshop: Over recent months, we have experienced some problems receiving commission payments. In order for the Information Point to receive commission, purchases must start at our webshop, computer security should be set to medium and in order that all purchases can be logged and commission paid, users must make the webshop a 'trusted' website by allowing cookies from the webshop and Pefilliate (the owners of buy.at), within their 'Internet Options'. Please contact us if you are uncertain how to do this. Should you ever want to check that commission has been paid on a purchase, please contact the Information Point with the date of the purchase and the supplier name - we are happy to check all purchases and if necessary chase the commission on these for you. Please remember every purchase you make through our webshop, really does count. Every penny of commission we receive is donated to the Myotubular Trust (UK) and the Beggs Laboratory (USA). _______________________________________________________________________________________ Back to Top
This summer the Myotubular Trust will be holding two major fundraising events in London. The London 10k - Sunday 6th July 2008
It is an absolutely great day with an electric atmosphere (try running up Whitehall in the last 1K to the sound of Chariots of Fire on the tannoy and thousands of people cheering you on) and at the same time raises a huge proportion of the charities annual income. If you are interested in taking part, you can either:
Due to the growing popularity of this event, places went very quickly last year, so it is recommended that you sign up now if you are interested in running. View video of Myotubular Trust Runners at the London 10k in 2007 The Myotubular Trust 20 Mile Thames Walk - Saturday 10th May 2008 If running is not your thing, then why not take part in a wonderful 20 mile walk being organised just for the Myotubular Trust, along the Thames from Hampton Court back to Battersea. The women who are organising this and who aim for it to be an annual event, were in an antenatal group with Anne (Trustee of Myotubular Trust) when she was expecting Tom. The strength of emotion they felt about watching their children grow up strong and healthy as Tom fought, and then lost his battle for life has been turned into an amazing force for action. Their letter of invitation to join their walk can be found at the Myotubular Trust website. To join this event, email Johanna Martin and she will send you a registration form. When you join either of these events your name will be added to the 2008 list of walkers on the Myotubular Trust website and you will be sent a free t-shirt. The Myotubular Trust guarantee that every penny you raise will go directly into research to give children with Myotubular Myopathy a real chance of life. It is the Myotubular Trust's great pleasure to be able to announce that Medicare First are sponsoring this year's Myotubular Trust t-shirts, in memory of Archie McInerney. The Trust and Archie's family are immensely grateful for their generosity. This year the t-shirts, pictured below, are black with the usual logo in the usual colours, meaning fundraisers will stand out even more.
If you are joining Myotubular Trust in any of their events this year, or are thinking of fundraising, please don't hesitate to ask for a t-shirt. To get your t-shirt, forward your postal address and the size of t-shirt you'd prefer to the Myotubular Trust.
Online Sponsorship The Trust has recently set up a new online donation facility to help with fundraising. The facility allows you to set up your own fundraising page, either as an individual, or as a team, which you can then email to all your potential sponsors. Once registered, you will receive log in details by email so that you can privately view your donations and messages. You will then be able to see who and when someone has donated, and read their messages of encouragement too. The page has all the necessary information to do with the Myotubular Trust and if you like you can upload a photo of your own to spur people on to donate (if you need a photo re-sizing to fit, the Trust can help with this). For those fundraisers who still prefer the traditional methods of collecting sponsorship, a sponsorship form is available from the Myotubular Trust.
A number of high profile advertising campaigns throughout 2007 have helped the Myotubular Trust raise awareness of the condition; the Trust is now supported by a blue-chip media planning and buying agency and several media suppliers who have provided a number of gratis advertising opportunities, amounting to a campaign worth in excess of £320,000. The campaigns included 100,000 Sandwich bags across independent sandwich shops and delis in central London; a national A2 panel campaign with posters displayed in 1,636 nurseries reaching 104,131 young children and their parents in 'Parent Source' pre-school locations and a prestigious backlit 96 sheet site, provided by International Poster Management (IPM), on the Cromwell Road for 10 weeks across October to December 2007, at a site which sees up to 725,000 cars weekly. Parent Emma McInerney works for the company, and when Emma and Jon's baby son, Archie, sadly died from Myotubular Myopathy at only 7 months, the company decided to help support Myotubular Trust with fundraising and pro bono expertise. Myotubular Trust has been honored to be IPM's charity of the year and thank them for their huge contribution to raising the profile of Myotubular Myopathy. The Myotubular Trust reported an increase of 300 more online hits per day on their website throughout the campaign period and in addition received a significant number of online donations which are likely to be a direct result of the advertising. Furthermore the campaign is currently being submitted by the co-ordinating agency for an industry award. In addition, Clear Channel, the UK's market leader in outdoor advertising, providing more than 70,000 advertising opportunities across 6 Sheets, billboards, premium formats and taxi advertising and have offered national 6-sheet bus shelter and outdoor poster sites throughout 2008 and 2009 on a 'filler' basis.
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In our December issue we reported that Sarah and Patrick Foye, in collaboration with the University of Chicago Genetic Services laboratories and Dr Beggs Congenital Myopathy Research Program at Children's Hospital Boston, had sponsored an application for a Collaboration, Education and Test Translation Program (CETT) grant to develop a clinical test for DNM2, the gene discovered to be related to Autosomal Dominant Centronuclear Myopathy - this grant has now been secured and clinical testing is hoped to be available shortly.
The Foyes plan to continue their advocacy role to have clinical testing available for all newly discovered genes associated with CNM, leading ultimately to a cure. For more information, contact Sarah Foye. _______________________________________________________________________________________ Back to Top
The Joshua Frase Foundation MTM / CNM Family Event 'Without You the Puzzle is Incomplete' The Joshua Frase Foundation hosted a social and educational event for families affected by Centronuclear / Myotubular Myopathy on Friday, 4 April 2008 in Boston, MA. Twenty-four people gathered including members from 9 affected families. Several members of the Beggs Laboratory for Congenital Myopathy Research were there along with one local respiratory therapist. Dr. Patrick Foye, physiatrist and parent, moderated the event; Dr. Foye touched on the term Centronuclear Myopathy as an umbrella term for X-Linked Myotubular Myopathy and other Centronuclear myopathies and their related gene mutations.
Dr. John Bach, physiatrist and MDA clinic director, spoke about management of respiratory issues in people with neuromuscular disease. The focus of his talk included secretion management, non-invasive ventilation strategies, daily respiratory care and more.
The excitement and emotion of being together with other affected families was tremendous. Each individual that attended received a pewter puzzle piece with various inscriptions like 'I am connected'. This affirmative jewellery was created by the Good Cheer Company and was designed to inspire people. It came with the following on a note card:
© The Good Cheer Company.
_______________________________________________________________________________________ Back to Top The Chester Half Marathon takes place on 18th May 2008 - Rachel Abram will be running the event to raise funds for the Myotubular Trust. The Information Point spoke to Rachel about the event.
In summer 2007 I took up running and in November I decided to enter the Chester Half Marathon - it seemed like a good way to combine keeping fit with raising much needed funds for research and increasing awareness into the condition. As a rare neuromuscular condition, it is difficult to attract funding; many clinicians have not heard of the condition and information can be difficult to come by.
Training involves running 4 times a week; two short runs, a third session of interval training and a longer run at the weekend. It is challenging fitting training in around work and other activities although it's is going well. In training I have run the distance in under two hours and would like to achieve the same on the day under race conditions. However I will be happy simply to know I have achieved my aim of raising funds and awareness. If you are interested in sponsoring Rachel, please download a sponsorship form or sponsor Rachel online. _______________________________________________________________________________________ Back to Top
The Muscular Dystrophy Campaign are looking for people to take part in the following events. BUPA London 10,000 - 26 May 2008 In May, the organisers of the London Marathon are introducing an exciting new event. Taking in many of the capital's famous landmarks and incorporating the route for the 2012 Olympic race, this televised event is going to be one to remember. Due to the high demand of this race the charity only have a limited number of places but if you apply now you could make your muscles count for the Muscular Dystrophy Campaign. To apply for this race or to find out about the many ways to get involved in our fundraising events download the application form or contact the events team.
BUPA Great North Run 2008 - 5 October 2008 This exciting and historic race is entering its 28th year. Last year the Muscular Dystrophy Campaign's fantastic team of runners helped raise over £55,000 for research and care. Join the team in 2008 and challenge yourself to complete the world's most popular half-marathon. For more information download the application form or contact the events team.
Costa Rica - Taming a Diverse Wilderness
The Muscular Dystrophy Campaign has introduced a new Schools Network which is designed to help all children with neuromuscular conditions. Schools are being asked to register with the campaign to receive staff training sessions and appropriate support information. The network will help schools to provide support for all children with a neuromuscular condition. Part of the network is a schools forum, where ideas and information can be shared and exchanged. This will lead to a greater understanding of children's needs and better practice in the classroom. Personal information about the child with not be collected and specific personal issues will not be discussed without the written consent of parents / guardians and of course, the children themselves, where applicable.
In September a new MDC website for children will launch. The website will be a secure place for children with muscle disease to learn, play, interact and feel part of a wider community. The website has been made possible by Schroders plc. If you are aged between 6 and 16, MDC would like to know what you would like to see on the website. They are also looking for people to be part of a focus group, to feedback on the website as it progresses and for people who would like to provide content for the website. Contact Abby Mardon on 020 7803 4806 or email Abby for further information.
My Cartridge Purchase your replacement printer cartridges from MyCartridge and a donation for every cartridge purchased will be made to the Muscular Dystrophy Campaign. My Cartridge has an extensive range of laser and inkjet cartridges available, both new originals as well as remanufactured versions. Cartridges can be purchased at the My Cartridge website or by contacting My Cartridge by phone on 01635 587064, fax 01635 876906 or by email quoting 'Muscular Dystrophy Campaign'.
Travel Insurance The Muscular Dystrophy Campaign have launched a new partnership with Unique to offer travel insurance and life assurance products for people with muscle diseases, their families, friends and carers. The policies are quick and easy to purchase with no referrals for medical screening and no age limits on single trip polices. There is also a 5% discount and The Muscular Dystrophy Campaign will receive a donation for each policy sold, at no extra cost to you. For further information, visit the Muscular Dystrophy Campaign or the Unique website. _______________________________________________________________________________________ Back to Top
The city was chosen as the site of NMC2 because of the world leading expertise in muscle disease at its Centre for Life. This is where the Muscular Dystrophy Campaign Muscle Centre is located, with an internationally renowned clinical team led by Professor Kate Bushby and Professor Volker Straub.
Other locations were considered for the new centre and it is hoped to continue to work in those areas and build a national networks of NMC's. _______________________________________________________________________________________ Back to Top Rare Diseases Day - 29 February 2008 To mark Europe's first Rare Disease Day, on 29th February 2008 over 150 patients from across the country travelled to Westminster to meet parliamentarians face to face, to raise the awareness of the needs of patients with rare diseases and to discuss policy developments at a UK and European level. The event in the House of Commons was organised by Genetic Interest Group (GIG) and their European partner Eurordis (an alliance of patient organisations and individuals active in the field of rare diseases). Policy developments discussed included GIG's pivotal input into upcoming European initiatives to ensure equal access and availability of prevention, diagnosis, treatment and rehabilitation for people with Rare Disease and how the UK experience could provide a role model in some areas. Although the UK does have specialist commissioning for some rare diseases it is not accessible by all and patients with rare conditions are calling for equal access to these health services. Tanya Collin-Histed, Executive Director at the Gauchers Association, a disease that affects 245 people in the UK, spoke about the benefits some patients had gained through receiving treatment and care at these specialist centres, 'Being able to see specialists in a centre dedicated to our condition has been of enormous benefit to patients. They are able to see people who look at their condition as a whole, and who know about the effects that it can have. They also have access to the latest treatment developments. It has been a lifeline to patients'. Alastair Kent, Director of the GIG said, 'Raising awareness of genetic disorders is vital. Although alone they are rare, together there are over 3.5 million people in the UK affected. Many patients have similar issues and concerns and together we can help patients to access the NHS in a fair and equitable manner'. Also discussed were:
Rare diseases are life-threatening or chronically debilitating diseases with a low prevalence and a high level of complexity. There are over 8000 rare conditions identified, and they affect over 3.5 million people in the UK and over 300 million people in the EU at some point in their life. Patients with very rare diseases, and their families, are particularly isolated and vulnerable and a day focused on rare diseases can bring hope, as well as information to these individuals. The London Parliamentary reception which took place on Tuesday 26th February to highlight the impact of rare conditions was just one of many events taking place throughout Europe to mark the day. Rare Disease Day will happen every year from 2008 onward and will continue to drive the understanding of genetic disorders and the impact that they have on patients' lives among the media, decisions makers, health professionals and the general public.
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Working away in Carshalton, Surrey is a charity that's transforming the lives of children with disabilities. MERU was founded in 1973 by medical engineer Bill Bond and Trefor Llewellyn Bowen, consultant orthopaedic surgeon and father of TV interior designer Laurence Llewelyn-Bowen. Their vision was to improve dramatically the lives of disabled children and young people by providing well designed bespoke equipment to meet their special needs. Parents, carers and medical professionals turn to MERU when they can't find specialist equipment for a disabled child. The charity makes a huge range of different items for its young clients, including specially adapted seating, custom-made desks, special computer joysticks, mice and keyboards to help children use computers and communication equipment; as well as learning and leisure toys. It also provides items for use in meeting children's daily needs, such as custom made sleeping, eating, bathing and toileting equipment. In recent years, MERU has also started making a small range of high demand off-the-shelf products. These include Bugzi, a powered wheelchair for children under five. This age group benefits hugely from independent mobility, yet is unlikely to have access to powered wheelchairs. Bugzi gives young children with disabilities the chance to 'toddle', play and learn alongside their able-bodied friends. MERU is also about to launch Rokzi, a set of chair arms and mini 'outriggers' that can be added to standard school chairs to provide extra stability and prevent them from tipping. Other ready made MERU products include Flexzi, a flexible positioning device and Moozi, a low-profile, easy to use joystick. MERU's clients primarily come from London and the South East but referrals from outside the area may be accepted if the client can travel to MERU for assessment, or in other exceptional circumstances. If you know of a young person that needs MERU's expertise they should be referred by or with the support of a healthcare professional - such as an occupational therapist, physiotherapist or speech and language therapist. Contact MERU for a referral form by telephone on 020 8770 8286, send them an email. MERU cannot take on projects where a ready-made solution can be obtained but its Information and Advice Service, available by phone, mail or email can provide contact details for a huge range of equipment suppliers and other organisations. Visit the MERU website.
Remap The charity Remap is an organisation of craftsmen working in partnership with health professionals to bring relief to disabled people whom mainstream services have not been able to help. Each craftsperson is a volunteer who uses their ingenuity and skills to help people with disabilities achieve much desired independence, or to enjoy leisure opportunities previously closed to them. The organisation was started over 40 years ago by an engineer who saw his beloved sister's quality of life slashed by polio. Each bit of equipment Remap produces is tailor made for a particular client, to respond to the particular difficulties they have and given free to the people who need them. The organisation operates 85 local groups throughout the country, entirely through volunteers, to help people with disabilities achieve greater independence and enjoyment of life's opportunities. Examples of equipment that Remap volunteers have made include:
If you are skilled at making things and would be interested in this very rewarding way of helping - or indeed would like some assistance yourself or know someone who would, please call 0845 1300 456 or email Remap and ask for further details. _______________________________________________________________________________________ Back to Top Proposed New Arrangements for Handling Health and Social Care Complaints A new unified complaints system for health and social care has been announced. Trials will take place during 2008 and the national roll-out is expected in April 2009. A simple two-stage complaints system focused on local resolution and then - if unresolved - an investigation by the Health or Local Government Ombudsman will replace the often lengthy and bureaucratic procedures currently in place. It emphasises that health and social care services should routinely learn from complaints, feeding into service improvement. Further information is available from the NHS Networks website. _______________________________________________________________________________________ Back to Top WellChild Children's Health Awards
WellChild is the UK charity dedicated to the needs of sick children and their families. Through care, support and research, WellChild provides children and families with practical solutions to real life problems, working so that every child has the best possible health. The charity has now launched the 2008 WellChild Awards a unique opportunity to invite people to nominate all health, social care and education professionals of sick children who they feel have made a real difference by caring above and beyond the call of duty for a young patient or worked hard to keep our children healthy, as well as brave children who deserve to be celebrated for their courage in coping with serious illness.
Entries for the 2008 Awards will be judged by an expert panel including representatives from the Royal College of Nursing, members of parliament and other health professionals. Awards will be handed out at a star-studded event in London at the end of October. Categories for Nominations are as follows: Best Brave Child: A child who has kept smiling against all odds in coping with or overcoming serious illness, and who deserves to be celebrated for their extraordinary courage. Best Caring Child: A special child who devotes much of their time and energies freely and lovingly to care for a friend or sibling who is sick. Best Doctor: A doctor working with children, either in a hospital or a GP, who has a real talent and commitment to helping children feel better. Best Nurse: A nurse working with children, either in hospital or a doctor's surgery, who goes the extra mile for the children in their care. Best Medical Team – A team of doctors, nurses, or other medical professionals, in a hospital, clinic or doctor’s surgery, who work together to make a huge difference to the lives of sick children.
Best School Professional: Anyone working within a school who makes a really special effort to help children with health problems or to promote healthy living to others. This could be a cook, a fitness instructor, a teacher or a special educational needs practitioner. To nominate in the Awards and to find out more about the work of WellChild visit the WellChild website or telephone 01242 530007 to request a nomination form. The closing date for entries is: Wednesday June 25th 2008. _______________________________________________________________________________________ Back to Top If you have a disability that makes travelling by train difficult you may qualify for the Disabled Person's Railcard. The Railcard allows you - and an adult companion with you - to get a 1/3 off most Standard and First Class fares throughout Great Britain. What's more, if you are travelling with a friend they also get a discount. The disabled Persons Railcard can be used in the morning at peak times and give you 25% off of the best flexible rate at Holiday Inn hotels worldwide. Buy a one year card for £18 or a three year card for £48. To find out how to apply, see the leaflet 'Rail Travel Made Easy, available at stations or visit the Disabled Persons Railcard website. The Directgov Blue Badge parking map has been improved. The Blue Badge parking map provides information on blue badge parking bays. There will be a large increase in the number of locations featured as well as additional information on accessible toilets, train stations, Shopmobility sites and more. For more information visit the Blue Badge web page on the DirectGov website.
Free Bus Travel Extended (England) Since April 2006 everyone in England who is over 60 or disabled has been entitled to a free annual bus pass giving free off peak bus travel within the local authority area where they live. From 1st April 2008 people in England who are 60 and over and/or 'eligible disabled' are entitled to free off peak local bus travel anywhere in England. Visit the DirectGov website for further information. _______________________________________________________________________________________ Back to Top Wallace and Gromit's Wrong Trousers Day 2008
To register to take part and receive your free Wrong Trousers Day Fundraising pack visit the Wallace and Gromit Children's Foundation website. All schools that register will receive lesson plans, Wallace and Gromit images and games to help with the day. This year you can join in the musical celebrations by taking part in the 'Wrong Trousers School of Rock' and the national 'Rock Out'. Further details will be announced on 1st May 2008. _______________________________________________________________________________________ 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 • Eight toners could help provide a much needed physiotherapy session for a child with muscular dystrophy • 20 toners could fund two hours of research - vitals hours to help scientists in their quest to find treatments and cures. Organisations taking part in recycling initiatives are the Myotubular Trust and the Muscular Dystrophy Campaign. To learn more, either register as a supporter of the Myotubular Trust at Office Green or contact i.robinson@muscular-dystrophy.org on 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 ~ |
The Foye's son Adam has the recessive form of the condition, they say 'although this gene is not the cause of Adam's disease, having a test available for 
Wallace and Gromit's Wrong Trousers Day 2008 will take place on Friday 27th June. You can join thousands of people across the country for a musical extravaganza to celebrate the first musical Wrong Trousers Day and raise money to help sick children in hospitals and hospices across the UK. You decide what to wear and how to celebrate, just use your musical talents and creativity and most importantly having fun.