Webshop News
The Information Point web shop information webshop has now raised £318.22. Since it launched, the shop has received 1,148 clicks amounting to purchases of £3,934.02.
Our top performing merchants are:
Every time you use our webshop to go to a retailer’s web site and subsequently buy something, you’ll automatically earn money for us. You don’t pay anything extra by using our webshop, so please try to use it whenever you can and don't forget to spread the word.
Visit our web shop.
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Community Champions Fund
Earlier this month, the Information Point applied to the Community Champions Fund for assistance with running the huge project that the Information Point has grown into over the last 6 years. The Community Champions Fund has been set up by the Department for Education and Skills (DfES) to help support and develop the work of people who are involved in, changing their communities for the better.
I am proud and very pleased to announce that the application was successful and the Information Point has been awarded a grant of £2,000. It is intended to use the money to pay for the day to day running costs of the website and the purchase of up to date equipment and software, for without reliable equipment the Information Point could not exist. In addition, because we have been successful in securing the full grant award, the Information Point will now be able to sponsor one of the workshops at the forthcoming Myotubular Trust Family Day to be held later this year.
I would like to take this opportunity to thank both the Community Champions Fund and Network, who have provided our web hosting and domain name free of charge for the last year, for their support of the Information Point.
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Myotubular Trust News
In this section:
It is now over one year since the Myotubular Trust was formed and the organisation is going from strength to strength. In November the Trust was featured as the 'Inspiration' in the Muscular Dystrophy Campaigns Target magazine for their attempt to break the world record for the worlds longest bunting line and in March a new Guinness World Record was set with the bunting line being officially confirmed the longest in the world at 1,504.72 (4,936ft 9in). Well done to everyone involved in this amazing achievement.
Fundraising
Just one year since set up, the Myotubular Trust has raised £110,000 for research into a cure or treatment for Myotubular Myopathy. This is great progress for a new charity focused on a rare disease - many of the people who raised substantial funds did not have an affected family member but just passionately went out and raised money in a totally determined manner. Interestingly, in a world of very well organised 'big issue' charities, the feedback the Trust got from people who had never even met an affected family, was that they were inspired because the money they raised would go somewhere so very specific. And the fact that the Myotubular Trust can keep costs low by getting things paid for by donations and grants meaning that over 99% of funds raised will go to research was also a strong source of enthusiasm.
The Trust is now trying to encourage a broader network of families within Europe to see how simply small fundraising ideas (often just simple sponsorship, everything from organised runs to headshaves) can really snowball and amount to rather a lot of money very quickly. Also, as one of the goals of the Myotubular Trust is to access funds in Europe, having established a fund of a decent size, the Trust can now apply to many more European grant making organisations who will give grants for European based research.
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Research
Having established a credible new research fund in Europe, the Myotubular Trust is also now focusing on encouraging the European academic neuromuscular world to apply their thinking to MTM. 'By making sure that they know there's a new fund out here to whom they can apply for research money, we hope to inspire and enthuse them. The brains follow the money, by necessity.' So many breakthroughs are happening in muscle disease in general that it will be important to promote MTM as a disease for which it is possible to get research funding - to make sure that work on MTM keeps pace with the exciting scientific possibilities.
(from left to right: Victor Dubowitz, Francesco Muntoni, Wendy and Anne toasting a cure for Myotubular Myopathy)
Professor Victor Dubowitz, Emeritus Professor of Paediatrics at Imperial College London (and a man of huge repute in the world of muscle disease since the 1950s) and Professor Francesco Muntoni, Head of Paediatric Neurology at the Hammersmith Hospital Neuromuscular Unit, are both providing great support to the Trust to heighten the profile of Myotubular Myopathy in the academic community. For example, an advertisement has been placed in the journal of the World Muscle Society by Professor Dubowitz and Professor Muntoni has got agreement for papers on Myotubular Myopathy to be presented and discussed at the UK Muscle Interest Group this year. They are also actively promoting a proposal for a European Neuromuscular Centre International Workshop on MTM - the last one was in 2003. These workshops create an environment of top level scientific collaboration and thought leadership, and the Trust is trying to build momentum and enthusiasm for a new MTM specific workshop in early 2008.
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Family Conference
A Myotubular Trust Family Conference Day, the first meeting in Europe of its kind for families affected by MTM , is currently being organised by the Trust and will both present the latest information on MTM research (2 - 3 key leading researchers in the field), and provide up to date thoughts on the ongoing management of Myotubular Myopathy. It is anticipated that this event will take place between August and October 2006 and the Trust would like to invite any family who has been affected by Myotubular Myopathy to attend.
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Patient Registry
The Myotubular Trust have been encouraged to set up a Patient Registry as nothing of its kind exists for Centronuclear / Myotubular Myopathy within Europe. We are therefore working in partnership with TREAT-NMD (Translational Research in Europe – Assessment and Treatment of Neuromuscular Diseases), a new European neuromuscular network addressing the fragmentation currently hindering transnational research for cutting edge therapies in rare neuromuscular diseases (NMD).
Families will be encouraged to join a patient register database which will be held on a TREAT-NMD standardised system and managed by their expert medical steering group. Myotubular Trust will however, be responsible for setting up the database and will be required to appoint a curator to review the data, to validate and confirm that it is of the same standard before it is entered onto the database.
We will also set up a formal consultation panel with a consortium of experts / researchers in the field who will advise what they would like from the patient registry. It is hoped that by having a patient registry specifically for Myotubular Myopathy, it will be the starting block for new clinical trials for the condition in Europe, enhancing clinicians’ and other health professionals’ ability to deliver treatments for the disease.
For efficiency and speed in contacting affected families about the patient register, we are inviting them to join a pre-register, details of which can be found on the Myotubular Trust website.
NOTE: The Patient Registry is fully supported by the Information Point, to be kept up to date with developments on this initiative, please make sure that you keep us up to date with your contact details, so that we can keep you up to date with developments.
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National Molecular Diagnostic Testing for Myotubular Myopathy
UK Testing for Myotubularin - currently, dna testing is carried out in Germany and France for Myotubular Myopathy. The Trust is organising to support an application for a grant from the Department of Health for Myotubularin testing to be carried out in the UK. This will give all patients the opportunity to a right and proper diagnosis, a fundamental right in UK health policy and fast track results. If any UK family is happy to help with lobbying for this, do contact the Trust.
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Moving From Hope to Cure - Foye CNM Project
The Moving From Hope to Cure Project has now raised $66,000. Events have included a fall letter drive, 2 marathons and a yogathon. A Celli fundraiser was held in December and this raised over $3,000. The event was organised by
Mary Foye of Castleisland, County Kerry, her friends and dance mates, for her grandson Adam who has recessive MTM.
Read more about the Ceili Fundraiser (Word 596 kb)
Martin Foye, Adam's grandfather, has also been busy fundraising and recently received a $1,000 donation from the Ancient Order of Hibernians, an Irish club t
hat he has been a member of for 50 years.
Adam recently celebrated his 6th birthday. He made delicious
home made cup
cakes
for his school friends and the whole class voted that Adam should
open his own bakery.
After school Adam visited the library where he got his very first library card, then had a pizza dinner with his mum and dad, who sang happy birthday to him over one of his delicious cup cakes. Adam was treated like a king for the day and felt very special.
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Joshua Frase Foundation: 10th Anniversary
The Joshua Frase Foundation is celebrating its 10 year anniversary
of supporting families affected by MTM / CNM this year.
At this year's
fundraiser on 5th April in Boston the Foundation will be honouring all
people who have died from Myotubular Myopathy and their families with a Book of Hope.
The Joshua Frase Foundation has issued the following statement:
'We would like to dedicate the last 10 years to all those precious
angels that have gone on before and know that their lives were
not in vain and we will not stop till we find the key that unlocks the
mysteries'.
Please note, at the time of publication of this newsletter the Book of Hope is due to go to print in less than one week. If
you would like to participate please send the persons name,
birth date and the date of their death to Sarah Foye as soon as possible.
Read more about the 10th Anniversary Gala Event
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The Tseng Family
Kevin Tseng lives in Taiwan, with his wife Nadine and two daughters. The couples younger daughter Evelyn was born in 2004 and has Recessive MTM. Below Kevin tells the Information Point about his daughter and of his work to raise awareness of the condition.
Evelyn was born on Christmas Day 2004 and was diagnosed with Centronuclear Myopathy two months after birth. Evelyn is an inspiring angel to tight my family together and calls us higher. She is the best Christmas gift I have ever got. Although she has been into ICU eight times after birth but she keeps surprising and inspiring us. I think it takes a whole life to truly learn this amazing gift.
We created a blog to translate English information about her condition into Chinese and to record our words for her, so that one day when she grows up she can proudly understand that there are tons of love for her.
Once you entered the site you'll hear a song automatically played. The lyrics were written by someone reading her story in the US and the song was then composed by someone else in Australia. I didn't know them but the song really inspires my family, the English lyrics are:
Baby you are God's gift for us
You're a blessing wrapped in fragile
Love you tender with His love
'Cause I saw heaven in your eyes
You might suffer more than others
But you're never alone
Although there are rainy days sometimes
But we feel like sunny days when we're with you
A surprising press report on her first birthday has led to lots of media reports including Reader's Digest Chinese and I'm looking forward to raising stronger awareness in CNM and connection with CNM families in Taiwan. There are 8 known cases here, most of them are under 3 years old. Three of these are girls including my Evelyn, and 5 boys - the oldest is a boy of 15 years old. These families were isolated until Evelyn's
story and her website were reported. I have also worked with the Taiwan
Foundation for Rare Disorders to help raise social
awareness through TV interviews, PR events, and giving speeches in
schools.
The social welfare is poor in Taiwan so there is still lots to do
and lots to change on our own. Sadly, many families gave up those
kids or put them into hospice. I saw one family searching for hospice
then changed their minds to raise their kid in their home, after
getting support and information from Evelyn's website. I learned that
we can really make things different even just by sharing and
supporting.
There are doctors, nurses, patient families, and many others
constantly reading Evelyn's blog, which has nearly one thousand visits
daily. When we started to share information about what I found here,
they're interested as well. I believe what advances somewhere in the
world may make things different in another part of the world. Thank
you whoever contributes in this big family!
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Javad's Place
Javad’s Place is a new American website, dedicated to making the lives of children with disabilities and their families better by connecting and supporting families.
The organisation was inspired by Javad Mashinchi, a five year old boy with Centronuclear Myopathy. Javad lives in Oregon with his family, attends school, and generally loves his life.
It is early days for the organisation but they have big plans to grow and make a difference in lives including:
- a board for information exchange
- a family advocacy programme
- a buddy program designed to connect children with disabilities with able bodied children, to provide regular play dates both in the home and at organised events
- an equipment exchange to post surplus medical equipment available for exchange
Visit Javad's Place
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Abstract and Digital Designs
Julie Carter is an artist from California who has been doing Pen and Ink drawings since 1991. She is a graduate of Gavilan College in Gilroy, California, from where she achieved a certificate in Computer Graphics Design in 2000 and she set up her own business, Abstract and Digital Designs in 1991. She is also a member of the Paso Robles Art Association and currently has artwork on display at Castoro Cellars in Templeton, California.
Julie has lost two children to Myotubular Myopathy, Dillon in 1991 and Carter in 1993. She started drawing in 1991 after the death of her mother and her eldest son as a way of expressing her feelings, kind of like writing in a diary.
Julie's pen and ink drawings are limited edition pieces which are signed, dated and numbered and come with a bio sketch of herself. Julie's Digital Designs are unlimited in number and can be printed up to 13" x 19". Some of the proceeds from the sales of Julie's work go towards research for finding a cure for Myotubular Myopathy in memory of Dillon and Carter.
View Julie's work at fine.art.com
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Now I Lay Me Down to Sleep
Now I Lay Me Down to Sleep is a non profit organisation that believes being able to introduce art form photography to grieving parents,
will help them in their healing process, aims to bring awareness to parents and caregivers
of this method of healing and to educate other photographers
to the sensitivity and compassion of this topic as well as being a support source for parents experiencing the death of a baby.
The organisation was co-founded by Cheryl Haggard after the death of her son Maddux from Myotubular Myopathy in 2005 and the photographer Sandy Puc whose work can be seen across the Now I Lay Me Down to Sleep website. Cheryl hopes that through her experience, parents will find the shorter path through their journey with grief. Cheryl says parents through out the world experience heartache and grief every day due to the death of a baby. This heartache can happen to anyone one of us. We want to bring awareness to parents and caregivers everywhere to this method of healing. We aim to bring parents together with professional photographers that are volunteering their time and services to helping parents create these heirloom memories of their time together as a family. Our goal is to ultimately be able to present Now I Lay Me Down To Sleep to families through out this nation.
Sign the Now I Lay Me Down to Sleep Remembrance Photography Petition
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Natural History Museum Genetics Project The Natural History Museum recently put together a new exhibit as part of the genetics area in their Human Biology Gallery. Children aged between 11 and 16 year old, were invited for an interview, to discuss some of the ethical questions that arise with the advances in genetics, for example issues around pre-natal screening. Should people be able to choose the sex of their baby for medical reasons? Should parents be able to choose to have a baby free of a genetic condition?
The interviews were filmed and now form part of a video display where children answer various questions, the idea being to show that people have lots of different opinions about these issues.
Zak Hughes who has X-Linked Myotubular Myopathy and his sister Sophie took part in the project. Zak appears on the interview loop 3 times and Sophie once. Zak's mum says they really enjoyed being filmed and taking part and especially enjoyed seeing themselves in the museum as part of the exhibit. They are really enjoying their new found fame as several friends have seen it too and told them that they’ve been spotted.
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Contact a Family supports and enables parents and families caring for disabled children to have access to good quality advice and information, support and contact with other families. The Information Point asked Louise Derbyshire the charities Family Linking Officer about the charities work.
Some of you may have heard of Contact a Family before. Indeed, some of you may have found the Information Point for Centronuclear and Myotubular Myopathy through Contact a Family. We are a national charity providing advice, information and support for any family with a disabled child, whatever the child's condition.
Contact a Family's Helpline, receives around 18,000 calls a year and is there to help parents find the information and support they need. Helpline staff can answer queries on all aspects of raising a disabled child, from providing medical information about a particular diagnosis; giving detailed advice about benefits and services; through to schooling and assessments and statements of special educational needs. An adviser can also let you know about any organisations or support groups out there that you may find helpful to contact.
Our website contains a wealth of information, including a range of factsheets which can be downloaded free of charge (or ordered via the helpline), some of which are targeted at particular family members, for example, grandparents. Others explain your rights to particular forms of help which may be available such as benefits and tax credits, and we also have a quick checklist of benefits and services that families may be entitled to. Several of the factsheets have been translated into community languages and our helpline advisers can arrange an interpreter over the phone for parents who don't speak English.
For more regular up-dates, we also produce three e-bulletins ('What's New? A general e-bulletin on issues of interest to parents of disabled children and professionals working with them, and two others focusing on parent participation and rare disorders - you can subscribe to these for free at our website. In addition, we produce a quarterly magazine 'Connected'. For a free sample copy of the magazine, and information about how to subscribe, you can download the latest from our website or ring our free helpline for a copy in the post.
Contact a Family has a network of national, regional and local project offices which provide general local disability information as well as activities for parents such as workshops and family events. We also have a network of volunteer Local Reps who are parents of disabled children and can help with local contacts and support. In some rural areas our Family Workers work with families on a one to one basis. For details of the support available in your area please call the helpline.
In addition to working directly with individual families Contact a Family works with parent and carer organisations, local and national government, and health authorities to shape local services to local needs. Visit our website if you are interested in influencing services in your area. Contact a Family are also a founder member of the Every Disabled Child Matters Campaign which is fighting for rights and justice for every disabled child. The campaign wants to sign up at least 25,000 supporters by July 2007. Join the campaign at the Every Disabled Child Matters website and ask everyone you know to do the same.
We often get involved in interesting projects that make a difference to the families we support and recently edited a book entitled 'Different Dads' which will be published by Jessica Kingsley in March 2007. The book is a collection of inspiring personal testimonies written by 21 fathers of disabled children who reflect on their own experiences and offer advice to other fathers and families on the challenges of raising a child with a disability. This book will be a valuable source of support and information for families, and also for health and social care professionals who work with them.
Interested in finding out more about Contact a Family or looking for some information to help you and your family? Ring the freephone helpline on 0808 808 3555 - open from 10am to 4pm Monday to Friday, and 5.30 to 7.30pm on Monday evenings.
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UK Clinical Research Collaboration
The task of the UK Clinical Research Collaboration is to make the UK one of the best places in the world
to carry out health research for the benefit of patients and the public. An important part of this is making sure that
the NHS is actively involved in research. The organisation is currently looking for members of the public to join some of their advisory groups.
Read the Advert for Advisory Group Members (43 kb)
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ARC Awareness Week 25th - 27th April 2007
ARC (Antenatal Results and Choices) is a UK charity providing information and support to parents before, during and after antenatal screening and testing. ARC also offers specialised support to parents when they are told something is wrong with their unborn baby. The organisation has a network of trained volunteers, many of whom have had similar experiences and families are encouraged to make the right decisions for themselves.
The aim of ARC Awareness Week is to raise the profile of the organisation amongst parents and health professionals. ARC endeavours to raise awareness, influence policy and deliver education in the complex and sensitive area of prenatal testing, ensuring that those who need to know about the charity are able to make contact.
A range of activities are planned for ARC Awareness week including the launch of an updated version of their Handbook for Parents, for those parents who are thinking of ending a pregnancy (another handbook for parents who learn that their unborn baby has an abnormality but decide to continue with the pregnancy is also available). Plans are also afoot to revamp the website and add more information
for parents continuing with a pregnancy, including an extra page of links.
Visit the ARC website for further information
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NHS Care Records Service
The NHS is planning, over the next few years, to begin storing patients health care records on computer. The records will be available to health care professionals throughout the UK and the system is due to be piloted throughout 2007.
The service will be known as the NHS Care Records Service and for patients it will mean that instead of your GP and local hospital having individual sets of patient records, there will be one linked care record, which will enable those treating you to have a much more complete picture of your health care. Detailed information about treatments or operations will be shared between your GP and other health providers in your region and summary information, such as contact information, current prescriptions, allergies and bad reactions to medication, will be available to any health care professional in the UK who treats you.
The scheme could bring considerable benefits for those with disabilities for example, families not having to continually repeat their story, fewer wasted appointments due to mislaid records or test results and faster delivery of results from tests and other procedures. In time, patients will be able to access their own summary element and add their own basic information that they would like shared.
The NHS will need to ensure that patient information remains confidential and as such, NHS staff will need a smartcard and a passcode to access the service. They will see only information which is relevant to their role and only if they are involved in your care. The NHS Care Record Guarantee explains fully the rules which will govern patient information.
Questions about the NHS Care Records Service can be made directly to the NHS or to Sheila Davies at Contact a Family who is collating responses to the proposed scheme to relay to the NHS.
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Consultation on Disability Equality
On 14 February the Office for Disability Issues launched a consultation to ask disabled people, their carers and parents; 'What does equality mean for you?' The consultation will run until 9 May 2007.
The Office for Disability Issues was set up to make sure that government departments work together to deliver equality for disabled people by 2025. The aim of the consultation is to find out what equality means to disabled people and to look at how progress towards achieving equality should be measured.
The questions they are asking are:
- What does equality mean to you?
- Can you describe any examples of equality for disabled people?
- Do you think that there should be a single measure of equality or that we need to measure progress on different aspects of people's lives?
- If you think we need more than one measure what do you think should be the five main features of quality that are measured?
Questions specific to early years and family support:
- What aspects of life for disabled children and their families do you think it most important for us to monitor over time?
- Which three measures do you think would be the most important indicators of equality in this area?
Questions specific to the transition to adulthood:
- What aspects of transition to adulthood for disabled young people do you think most important for us to monitor over time?
- Which three measures would be the most important indicators of equality in this area?
In addition, there are four consultation events being held during March and April:
- 19 March: Cardiff
- 27 March: Edinburgh
- 30 March: London
- 4 April: Manchester
For full details of the consultation visit the Office for Disability Issues Consultation web page.
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Special Abilities: Disability Resource Manual
Special Abilities have recently launched a new 110 page disability information resource manual which has been designed for the purpose of enabling the parent, carer or service provider to gain the necessary knowledge and skills required to access information on a range of issues such as services and legislation. The manual provides a comprehensive starting point and by using the disability resource manual you will be able to access information to empower you to speak on behalf of a disabled child.
Order the Resource Manual (Word 60kb)
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Positive Aspects
Positive Aspects is a free bi-monthly email newsletter, for anybody who has an interest in disability, mental health issues and / or illness. Positive Aspects began on 1st February 2006 and is run by Julie, a mum of 4 children, one who has Down’s Syndrome and another William’s Syndrome. Positive Aspects includes items on law, holidays and benefits as well as personal stories, poetry and a pen friends section. Each issue comes with a separate ‘diary dates’ attachment to keep you up to date with what’s happening in your area.
View Positive Aspects Flyer (Word 153 kb)
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Ableize
Ableize is a new web site that has been created by a group of disabled professionals and which deals purely with disability and health matters. Those responsible range from solicitors, accountants and disabled DDA auditors but they all have two things in common. One, disability and two, all have suffered the frustration of searching the internet and finding it very much hit and miss throwing up everything other than was actually being searched for.
Placing disability and health related sites containing information, services, advice and details of specific disabilities under one roof was felt to be the answer, hence Ableize was born.
Since the launch of Ableize, many large government, disability and health organisations have listed its contents and linked directly to it. After one month of going live, Ableize gained a page rank of 3 and almost 1,500 back links. This is a mammoth achievement for the launch of a brand new site that has no track record. Submission requests sent to the site are flooding in with organisations, companies and individual sites wanting to be listed. Seven out of ten sites submitted to Ableize are however rejected due to the strict listing rules that allow only the best and most appropriate content.
Each submission chosen to be listed is personally edited by one of the team. High standards are achieved by editors that remove all hyped descriptions and the inappropriate use of keyword spamming. Each description and title is re-written to offer the user as much details as possible. Ableize is very much a user based directory.
Submission is currently free with a reciprocal link back to the Ableize website. The site is predicted to continue its grown rate at a fast pace due to the input by the dedicated and knowledgeable team, that have a belief in not only the subject matter but the market and the need to fill such a neglected area of the net.
View the Ableize website
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Remember! Don't throw your toner cartridges away.
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 Peter Lawson at the Muscular Dystrophy Campaign on 020 7720 8055 or email info@muscular-dystrophy.org
Used postage stamps can also be sent to Peter Lawson at Muscular Dystrophy Campaign, 7-11 Prescott Place, London SW4 6BS.
A new programme designed to accelerate the process of providing treatments to patients with neuromuscular diseases was formally launched in Paris in January 2007. Translational Research in Europe - Assessment and Treatment of Neuromuscular Diseases (TREAT-NMD) is a European Union funded network of excellence. 
