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Earlier this month Nature Genetics published an article describing a new gene associated with Autosomal Recessive CNM and we hope to have further information about this on the website shortly.

I hope you will find this issue of interest - as always, I value readers feedback and if there is something you would like me to include in a future issue or if you are interested in submitting something about an experience or an event that you have been involved in, please get in touch, I would love to hear from you.

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As a result of this award, new computer equipment and software to help with the production of the website and this newsletter has now been purchased. The money has also enabled the Information Point to sponsor two workshops at the Myotubular Trust Family Day later this year.

The Information Point is very grateful to the Community Champions Fund for taking an interest in and supporting our work. Special mention also needs to be made of those who assisted with the Community Champions Fund application process and to Mike Abram, my dad, for the time he spent setting up the new computer and transferring all the information across from the old computer, which was on its last legs. I know it was challenging to say the least and appreciate your work more than I can say. Thank you all.

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All funds raised will be donated to the Myotubular Trust (UK) and the Beggs Laboratory (USA).

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We are certain that the first ever European family conference for Myotubular Myopathy will be an uplifting day for everyone, and hope that you will be able to join in.

Last year over 100 runners raised an outstanding £70,000 sponsorship from the London 10K event. This year, over 80 runners donned Myotubular Trust t-shirts and braved the drizzle to run and to raise awareness and funding for Myotubular Trust again, and what's more, we were represented by even more families this year. We had some fabulous t-shirts printed, funded by Geneva Health with a catchy phrase on the back which read 'Finding Strength. If You Can, We Can'.

We hope this event will grow and grow - as it would be fantastic to see even more families get involved in this event next year. Please contact Wendy or Anne if you would like to know how to get free spaces. Meanwhile a huge thank you to everyone involved for supporting this year's 10K, which was a really happy and memorable day. We really look forward to meeting old friends again next year in the London 2008 as well as welcome some new faces.

In Cumpana, a village in east Romania, the Cumpana Fun Run took place in memory of Tom Lennox organised by family friend Sinclair Stevenson. When the village Mayoress (the Primar of Cumpana) heard about Tom and Myotubular Myopathy, she decided to get involved and organised for roads to be closed and local school children to get involved. It was a wonderful community event and the people of Cumpana were so helpful in making it a huge success.

The Myotubular Trust was proud to be represented by Karen Vardy, mum of little Jack Blunsdon who sadly died on his first birthday earlier this year from complications associated with Myotubular Myopathy. Karen described the event as 'an incredible and unforgettable experience, another loop in the rollercoaster of my life'. Over 400 children took part in 2 km fun runs, followed by an evening of fun and entertainment, including singing from the lead singer of 'Boney M', barbeque and fireworks.

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Earlier this year the campaign organised a family teleconference on use of the Cough Assist machine with respiratory therapist, Lou Sapporito and on 8th July hosted a get together for affected families in Montville, New Jersey. Pat and Sarah were also interviewed by the medical and science editor of Quest magazine and are hopeful for a feature article on CNM / MTM in September.

A research proposal 'A Descriptive Study of Medical Ethical Issues Facing People Affected by Centronuclear Myopathy' has been drafted from the researches at the Rehabilitation Institute of Chicago. The proposal is currently awaiting final approval to move to the next stage.

The campaign continues to support the Joshua Frase Foundation (JFF) on their Advisory Board and Pat and Sarah attended the annual JFF Fundraiser Gala in Boston in April.

Pat and Sarah Foye visit the Beggs Laboratory at Children's Hospital Boston with Shannon Mashinchi and Connie Guinn

Sarah also organized an event for families in Boston sponsored by JFF in April and Patrick gave a talk about current updates on MTM / CNM including terminology, diagnosis, research advancements, the importance of genetic testing, etc. He also discussed ways that families can make a difference through raising awareness, fundraising and communicating with other families.

The event was attended by Doctor Beggs who spoke about research going on at his lab. Eighteen family members attended - the event was a huge success leaving families feeling hopeful, united and inspired.

The campaign is currently trying to spearhead a grant to make clinical testing for DNM2 available in the US at the University of Chicago, having found out about a government grant that joins together a clinical lab, a research lab and an advocacy group to start clinical tests for newly found genetic mutations. This grant provides funding to the laboratory to develop these costly tests and money to develop educational materials.

Future events include a softball tournament on 18th and 19th August, a Irish Hibernian Dance on 16th September, a bereavement teleconference and a special education / IEP teleconference - dates for these have yet to be announced. Please visit the events page of the Information Point website for updates.

The Moving From Hope to Cure campaign is in need of more volunteers to host fundraising events - some events can be as simple as sending letters to your family and friends. Easy to use templates and fundraising coaching are now available. Please contact Doreen Phalen for more information.

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At Chestnut Tree House, Jack had every nurse's undivided attention. He just loved it. There was everything there for him, lights, music, and more toys than a toyshop, but most importantly someone to cuddle him. Jack had five respite visits. He would go when he was well enough and Dave and I would have a couple of days rest. It's hard to describe how important that was. Two days doesn't make up for six months of sleep deprivation but it was wonderful to spend some time together, go out for a drink and a meal, or watch a film. We shared some really precious moments together as a family at Chestnut Tree House, like the time Jack went swimming in October for the first and only time in his life. It was Dave's birthday. It was beautiful and those 30 minutes will live with us forever. We also have the wonderful memories of holding Jack's christening at Chestnut Tree House on New Years Eve 2006. 35 of our close family and Jack's godparents were with us to help celebrate this momentous occasion.

More treasured memories that Chestnut Tree House gave to us. Jack's first birthday was on 11th January 2007. We couldn't believe we had got this far. That Thursday morning we all woke up and cuddled up in bed together to sing 'Happy Birthday', but Jack wasn't well, he was struggling to breathe and his condition deteriorated quickly. We spoke to Chestnut. They had been on stand by and were ready for us. We started what was to be our last journey to Chestnut Tree House. When we got there, everything was under control, no panic, just calm, professional caring nurses, who had become our friends. We took Jack to his room and made him comfortable, and that's were we stayed. Jack died that evening, the evening of his first birthday.

Jack couldn't breathe unaided. He couldn't swallow or eat. We knew it was time to let Jack go. Those last 12 hours together were so very special. We were able to have all of his family come see him, sing him 'happy birthday', open his birthday cards, give him his balloons, and blow out the candle on the birthday cake that Chestnut had made for him, all the time knowing that someone was around to make sure Jack was okay.

If the death of your child can ever be beautiful, it was. It felt like it was our time and everything was how we wanted it to be. There were a lot of tears. We knew that Jack was dying, but it was time to let him go. I sat in a room just like any child's bedroom and held my son in my arms as he died. It was peaceful. No one interfered. It was just us: me, Dave and Jack.

When you lose your child like that, you need to know that it is going to be as perfect as possible. You don't and won't get a second chance. We had perfection. Of course, everybody should be given that chance. Everybody in that situation deserves the same amazing care that we received.

But there's a problem. You see, Chestnut Tree House currently runs at just half its full capacity. Of the 10 rooms designed for families like ours, five are standing empty and unused, just because they don't have the money to open them.

When each room costs £300,000 a year to run, you can understand why. But that doesn't make it right - especially when that means that other families face the prospect of their child dying in hospital instead of the comfort of a hospice.

So, we've decided to do something about it - by launching the Jack's Birthday Wish Appeal. We want to raise £500,000 before Jack's second birthday on January 11th 2008. This is the amount Chestnut Tree House needs not just to open another room, but to ensure it remains open.

If you can, please send a donation that will help give other parents like myself and Dave, and other poorly children like Jack, the chance to enjoy precious moments together at Chestnut Tree House.

£34.24 would keep a room open for an hour - long enough for a poorly child to have a session in the multisensory
room. This is really important for kids like Jack with physical disabilities.

£17.12 would pay for half an hour - enough time for a child to have a dip in the hydrotherapy pool, like Jack did on Dave's birthday. It's probably one of our most cherished memories of time spent together as a family.

£8.56 would pay for quarter of an hour - long enough for a nurse to read a child a story while the parents go and have a cup of tea and a quick break from caring. Take it from me, it's the sort of help that goes a long way when you have a very poorly child.

If you can help, please send a gift to Chestnut Tree House. They are relying on people like you to help make Jack's Birthday Wish come true so that Chestnut Tree House can offer the same wonderful help to even more local families with desperately ill children.

Thank you from the bottom of my heart for anything you can do to help. It will mean so much to me and Dave and everyone at Chestnut Tree House.

In early July, a mailing pack was posted out to 20,000 addresses in Sussex and in just 3 weeks, raised over £32,000. The campaign has now raised over £50,000.

To help make Jack's Birthday Wish come true please call the special telephone hotline on 01903 871820 or visit the Chestnut Tree House website.

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One of the ways GIG have done this is through the development of a set of 11 leaflets looking at various issues that patients may encounter during their journey including Inheritance Patterns, Chromosome Problems, What is a Genetic Test and Information about the Genetics Appointment. GIG has worked with both health professionals and a number of patient groups in the development of these leaflets to ensure they are accurate, readable and cover the issues that are important to patients and families. The leaflets are going to be translated into a number of European languages and will be freely available to both patients and professionals. They are all currently available on the Eurogentest website.

Over the coming years a number of other educational initiatives will be taking place. Eurogentest members have also been heavily involved in developing new OECD guidelines for Quality Assurance in Molecular Genetic Testing. These guidelines comprise Principles and Best Practices for genetic laboratories and others involved in the provision of molecular genetic testing, and all European member states are being encouraged to adopt them. Support groups can play a major role in encouraging and promoting the new OECD guidelines to governments, professional bodies and providers of genetic testing services for the benefit of affected patients and families.

Eurogentest has a free e newsletter which reports on all the key developments from the project and comes out on a four monthly basis. If you would like to keep up to date with the work of Eurogentest then please sign up via the online form.

Earlier this year 223 medical research charities and organisations wrote a letter to the Prime Minister urging the Government to support research into currently incurable conditions. Members of the Genetic Interest Group and the Association of Medical Research Charities were invited to sign a letter to the Prime Minister, Tony Blair, following publication of the report from the Science and Technology Committee Inquiry into the Regulation of Hybrid and Chimera Embryos. The letter, also sent to Caroline Flint MP, Minister of State for Public Health and Malcolm Wicks MP, Minister of State for Science and Innovation.

Ten years after the creation of Eurordis, the European Organisation for Rare Diseases, the 4th edition of the European Conference on Rare Diseases in Lisbon takes place. The previous European Conferences (Copenhagen 2001, Paris 2003, Luxembourg 2005) were a huge success. Lisbon 2007 is the second conference to be held under the E.U Presidency and to be financially supported by the European Commission - DG Public Health. Together, patients and health care professionals shall review policies, strategies and examples of successful action; we shall voice our needs, promote patient-centred policies at national and European levels; and confirm the vitality of the rare disease community in Europe.

The Patient and Public Involvement Specialist Library managed by the King's Fund for the National Library for Health has now been launched. Managers, researchers and students will be able to access, free of charge, a comprehensive collection of current knowledge and evidence about patient and public involvement in healthcare in areas such as policy development and self-care, and on strengthening NHS accountability to patients and to local communities.

The aim of the PPI Specialist Library is to support the implementation of patient, user, carer and public involvement in health care by providing access, in one location, to the best information available.

The Royal College of Physicians (RCP) London will be holding its third Public Open Day on Saturday 15 September 2007 from 11a.m. - 4 p.m. The Open Day will be of particular interest to young people considering a career in medicine and for individuals wishing to learn more about health issues, medical history and architecture, to find out about the work that physicians do, how they are trained in the specialities and the role of the RCP.

The emphasis is on fun and learning, with interactive stands from different medical specialties offering activities such as allergy testing and the chance to practice resuscitation. There will also be talks delivered on a variety of subjects including the College's medicinal garden, alcohol and green issues, together with tours of the architecture, history and garden. Live music and refreshments will also be available throughout the day.

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We want to hear from you. Do you think this is a good idea? Would you like to suggest a location for a new centre? The NMC provides employment opportunities with NMC Design and Print, ongoing physiotherapy (not usually available to adults through the NHS) and a range of training services. All this costs around £600,000 per year, so if we decide to set up another NMC we need to know we can fund it sustainably.

For this we need a core of active supporters who will spearhead local fundraising efforts. We will also need senior regional and national clinicians and other professionals who are enthusiastic about NMC and willing to promote it. We also need a site or building that can be easily reached by a large population, ideally near a hydrotherapy pool.

To give us you ideas and suggestions please call Matthew on 01606 860911 or email matthewl@nmcentre.com.

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The Muscular Dystrophy Campaign is inviting members and supporters to give its new awareness and fundraising week a push in the right direction. The Big Push, taking place from 15 - 22 September, will be a concentrated period of activity, pushing for better services and pushing the case for research funding, as well as being a major fundraising push.

Some have already got behind The Big Push; Kevin Fletcher, with son Daniel and friends in Bristol, organised their own 'Big Push' event at their gym. A week's worth of sponsored exercise raised over £700 for the charity. Can you organise a similar event at your local gym?

To obtain more information and your free fundraising pack, email thebigpush@muscular-dystrophy.org.

If you'd prefer to join a charity organised event, there are over 30 fundraisers taking place around the UK during September and October. Visit the Muscular Dystrophy Campaign website for more information and the chance to win a digital camera.

During The Big Push, the Muscular Dystrophy Campaign will be highlighting the nature and quality of service provision for people with muscle disease, in particular the needs and challenges faced by young adults with neuromuscular conditions when accessing higher education.

A number of our members experience difficulties when transferring from children's to adults' services and the move to university is often the final step of the transition towards greater independence. However, the system too often fails those young adults with disabilities who have to deal with a minefield of problems concerning accessibility, housing, care packages and grants.

By launching a Campaigns Network during The Big Push, the Muscular Dystrophy Campaign hopes to work with members in calling on the Government to ensure that all young adults with neuromuscular conditions receive appropriate support and information tailored to this crucial stage in their lives.

If you have positive or negative experiences of university, or of the wider issue of transition, then please email the Muscular Dystrophy Campaign.

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Through our Child and Family Grants we fund vital equipment and give assistance. The grants give very practical help to families caring for someone up to age 18 with an inborn condition that has significant effects. The service exists to help those who need help, perhaps to buy special equipment, who would otherwise have a lengthy wait. Our fast decisions mean we can grant immediate help just where it' needed.

We also campaign to raise the level of awareness. We do this because both parents and older patients suffer from the effects of poor awareness in respect of isolation, alienation, lack of services, training and facilities. Creating awareness among the general public and policy makers can challenge these experiences. We also raise awareness to help people to act prior to pregnancy, to reduce the risks of inborn conditions.

One of our latest campaigns is called ‘It’s Not Too Much To Ask’ which has already made national headlines. We are campaigning on behalf of disabled children for the government to review the system of provision of specialised equipment. We found that on average just £60 was spent by statutory bodies on this equipment - when for most families the cost of equipment can run into thousands of pounds. We would ask you to please support this campaign.

There are lots of ways you can help from fund raising to donations and supporters’ action packs are available from the charity or you could make a donation online at our website.

BDF Newlife, which is based in Cannock, Staffordshire, also works closely with businesses and our unique secure recycling service is used by hundreds of businesses and organisations across the UK who know there is a better alternative to dumping or destroying unwanted stock - let us recycle it.

All of this is achieved with the help of volunteers, supporters and businesses who donate time, money and goods so that we can achieve our goals.

Further information is available on 01543 468888, at our helpline on 08700 70 70 20 or on our website.

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Instead, DLA can sometimes lead to an increase in other entitlements or help families qualify for them if they don't already get them. In short DLA can make a real difference to a family's overall income. Disabled adults can claim DLA too.

Contact a Family recently produced a fact sheet which would be helpful to anyone thinking of claiming DLA for a child for the first time or if you are already getting DLA for your child and want to check if they're entitled to a higher rate. It also provides information about challenging a decision if you are unhappy with the outcome.

Contact a Family also produce a leaflet about the different schemes that exist for reducing your Council Tax Bill for families who have a disabled child. Disabled adults can claim for Council Tax reductions also. The three main schemes for reducing your council tax bill are outlined, along with some information about discretionary payments which can be made towards the council tax bills of those on a low income. It is possible to qualify for help from more than one of these schems at the same time and it makes no difference whether you are a tennant or a homeowner.

Contact a Family produce a range of fact sheets on a range of issues and these can be found on the Contact a Family website.

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MitoAction is an organisation which exists to provide support to and advocate for Mitochondrial Disease patients by increasing awareness and fighting for legislation, while providing resources and information that make Mito patients' days and lives easier.

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Letterbox Library (LL) is a children’s booksellers and a not-for-profit social enterprise. Our customers include schools, libraries, early years settings and individuals. We have a long established reputation for sourcing children’s books which celebrate equality and diversity. A number of our books are imported and are hard to access elsewhere. Our specialisms include:

multicultural and non-sexist children’s books
books which explore personal and social issues
books which feature groups of people traditionally under-represented in children’s literature, e.g.: different faith groups, disabled people, black / minority ethnic communities, refugees

Uniquely, all of our books have been approved by an independent team of volunteer reviewers which includes Ofsted inspectors, childminders, teachers, social workers, nursery workers, parents and children. Books are carefully selected for their inclusiveness, quality in art work and storyline, strong child-appeal. Our reviewers come from a wide range of backgrounds and include disabled children / adults.

Letterbox Library remains committed to promoting the best disability titles available from the UK and abroad. Our website includes a themed section on disability and our catalogue includes a special disabilities books pack as well as lots of individual titles (highlighted with a Blue ‘D’). For a free copy of our catalogue, please call 020 7503 4801 or email.

Visit the Letterbox Library 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.

~ Visit the Information Point for Centronuclear and Myotubular Myopathy ~

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