The product of an extensive review process by 84 international experts representing 20 disciplines across DMD diagnosis and care, this document is a unique guide for individuals, care providers and families to comprehensive health care management for individuals with DMD.

The drafting of these guidelines is the result of a three-year-long project guided by the US Centers for Disease Control (CDC) using a rigorous review process that required expert panels to consider more than 70 thousand different care scenarios.

The preparation of the guidelines was supported by advocacy groups worldwide and by TREAT-NMD (www.treat-nmd.eu), an international network formed to advance diagnosis, care and treatment for people with neuromuscular diseases.

In a close collaboration between TREAT-NMD, patient advocacy groups and health care professionals, the full academic publication is also being transformed into a comprehensive “family guide”, which will be made available at the start of 2010.

An electronic (PDF) version of the guidelines is now available for download from the Treat-NMD website at http://www.treat-nmd.eu/diagnosis-and-management-of-dmd.

There is still no cure for DMD, but it is recognised that receiving the best care can dramatically improve the quality of life and life expectancy of individuals with the condition, enabling them to lead fulfilling, independent lives into adulthood. The importance of care recommendations such as these therefore cannot be underestimated.

The international guidelines, which cover the diagnostics, cardiovascular, neuromuscular, gastroenterology and nutrition, orthopaedic and surgical, psychosocial, rehabilitation and respiratory fields, can be used by doctors, patients and families worldwide as a guide to the treatment that individuals with Duchenne should receive at each stage of the disease.

They are also a valuable tool for lobbying at a national level to enable incorporation of these recommendations into national health systems.

“What is really significant about these guidelines is the weight of international expert opinion behind them,” explains Kate Bushby, managing editor of the Lancet Neurology article, coordinator of the TREAT-NMD network and herself a doctor specialising in DMD and related neuromuscular conditions.

“Guidelines containing really quite similar recommendations have been produced before, but always by a much smaller group of authors or an individual patient advocacy group, which has meant they have been easier to ignore.

“This document represents real international consensus including both the medical and the patient advocacy perspectives and can be used across the world as a powerful tool to recognize those centres where best practice is already in place and to identify gaps in care.”

Most of the recommendations in the document are not for especially expensive or hard-to-obtain treatments, or indeed for care that is not already available in many of the best centres worldwide.

What is stressed is the importance of a multidisciplinary approach - the necessity for patients to see specialists in all the fields that are involved in DMD, and for those specialists to talk to one another to ensure a coordinated approach to the care of each individual.

With this authoritative document behind them, TREAT-NMD will work with patient advocacy groups, healthcare professionals and health authorities across the world to establish the best ways of implementing these recommendations and ensuring that all individuals with Duchenne have access to best-practice care.

A comprehensive family guide will be made available in January 2010. Anyone interested in receiving further details or translating the guide into their own native language is invited to contact TREAT-NMD at info@treat-nmd.eu.

About TREAT-NMD

TREAT-NMD is an international network that was formed to facilitate collaborative research in neuromuscular disease and create the infrastructure to ensure that the most promising new therapies reach patients as quickly as possible. The network brings together the key players in the neuromuscular field and is developing the resources that industry, clinicians and scientists need to bring novel therapeutic approaches through preclinical development and into the clinic, as well as helping to establish best-practice care for neuromuscular patients worldwide.

For more information, visit www.treat-nmd.eu.

About the guidelines document creation process

The document was created using a rigorous review process (known as the RAND/UCLA Appropriateness Method or RAM) that required 84 international experts to rate interventions and assessments used in the management of DMD for “appropriateness” or “necessity” at different stages of the condition.

The US Centers for Disease Control and Prevention (CDC) supported its development and it was funded under the US MD-CARE Act. The managing editor was Professor Kate Bushby of Newcastle University in the UK.

About DMD

Duchenne muscular dystrophy (DMD) is one of the most common genetic disorders affecting children and young adults. It is a severe muscle wasting condition affecting 1 in 3,500 newborn boys worldwide, with onset in early childhood and the ensuing progressive muscle weakness and wasting leading to affected individuals becoming wheelchair bound by their early teens.

Without treatment, the condition leads to death by the early twenties. DMD is caused by mutations in the DMD gene that lead to a failure to produce a functional muscle protein called dystrophin. Although several possible treatments are currently in clinical trial, there is currently no cure, but care interventions ranging from psychosocial, cardiac and nutritional care and steroid treatment to respiratory and orthopaedic interventions can have a dramatic effect on quality of life and life expectancy.

“Towards a Brighter Future” will be held at the University of Sydney, 26-27 February 2010.

The vision for the conference is to ensure that patients and their families have access to early and accurate diagnosis, create awareness of progress in prevention and management and present interventions to enhance quality of life for all affected individuals.

The conference aims to:

• Deliver up-to-date research on neuromuscular disorders
• Provide information about all neuromuscular conditions to health professionals (doctors, allied health and nursing), educators (teachers, teacher’s aides and special needs educators), parents and affected persons.
• Deliver a stimulating and progressive conference program tht disseminates only the most up to date research in the field of neuromuscular conditions.

Whilst there is no “one size fits all” miracle cure for each disorder, the future is going to be much better for many of our children. We know that world standards of care are changing every year via new drug therapies, practices and research findings and it is critical that we keep abreast of new information.

For the conference brochure click here.

For an overview of the conference program click here.

To visit the conference web site click here.

Don’t miss this outstanding musical event featuring the incredible James Morrison.

Motown in Mudgee will be held on Saturday, 7 November 2009 at beautiful Gooree Park in Mudgee, one of the NSW’s great wine regions.

All funds raised will go to Muscular Dystrophy Foundation Australia.

Tickets can be purchased online at www.gooreepark.com.au. Or download, complete and return an order form. Or call Gooree Park on (02) 6378 1800.

See below for details or download a copy of the Motown in Mudgee flyer here.

In a whirlwind week of special events and media appearances Jerry worked his magic as a legendary entertainer and leading muscular dystrophy advocate, using his compelling combination of humour, charm, passion and determination to forge new friendships, new alliances and new support for muscular dystrophy in Australia.

Throughout the week Jerry was supported by a brilliant line up of leading entertainers and comedians including Peter Berner, David Campbell, Kitty Flanagan, Tom Gleeson, Paul McDermott, Julie Morris, Fiona O’Loughlin, Carl Riseley, Mikey Robins, Leo Sayer and Mark Spano.

Only a day after his arrival Jerry stunned, delighted and energised the Australian muscular dystrophy community by pledging through the national media his total commitment to work with Muscular Dystrophy Foundation Australia to achieve here what he has achieved in the USA.

“I would love to do here in seven days what I did in 58 years [in the USA] but the point is it has to begin,” Jerry said.

Jerry’s Annual MDA Telethon in the US has raised over US$60 million in each of the last two years, and since its inception in the 1960s has raised US$2.4 billion - that’s with a ‘b’, he says with a big grin.

Jerry announced that he plans to return to Australia in 2011 to stage a muscular dystrophy telethon as extravagant and successful as its US counterpart. He acknowledges this will depend on getting support from Australian television networks, but says he’ll put all his resources into making it happen.

“I have a hunch we’re going to pull it off [here in Australia],” Jerry said.

The week started with a “Special Afternoon with Jerry Lewis” at Star City in Sydney. (Pressure of time meant that Jerry wasn’t able to travel further in Australia on this trip.) Mums, dads, kids and carers were all treated to hours of fun and laughter with the king of comedy showing clips from his favourite movies and shows.

Jerry’s Aussie kids, young and old, were in fits of laughter watching the zany antics of the guy on screen (the younger ones probably for the first time) with the man himself following up with more great jokes and quick repartee.

Keen to talk with everyone in the room and hear stories of their lives and answer the many questions there were about his, Jerry not only recounted amazing tales of his life as a star of stage and screen, but also revealed his deep commitment to muscular dystrophy.

Jerry’s humanity and compassion filled the room with inspiration and much encouragement.

At another three fantastic functions at Star City, Jerry went on to entertain and inspire hundreds of committed muscular dystrophy supporters who came from all around Australia to get ‘up close and personal’ with this remarkable man.

Jerry was supported at the Star City events by marvellous musical performances from Leo Sayer, David Campbell, Mark Spano and Carl Riseley.

TV personalities Jaynie Seal (Channel 9 Weather), Mark Beretta (Channel 7 Sunrise) and Kellie Connolly (Channel 9 Today) kept things moving as accomplished and gracious MCs of the events.

The grand finale to the week was a spectacular show at Sydney’s Enmore Theatre featuring Jerry, his 24 piece orchestra and the royalty of Australian comedy.

A packed house of more than 1200 people was “laughing for life” as Jerry and his Australian co-stars Peter Berner, Kitty Flanagan, Tom Gleeson, Paul McDermott, Julie Morris, Fiona O’Loughlin and Mikey Robins worked their brilliant comic magic.

For all the laughter and all the fun, Jerry was intent on getting a more serious message across.

“If you make people laugh, I have found that they become very available to thinking good stuff,” Jerry had said before the show.

“I’m going to make them aware that they have an enemy [muscular dystrophy] in their midst and I’ve come to do something about it.”

Jerry also had a special message for the muscular dystrophy community of Australia.

“You’ve got to go national and you’ve got to be united if you want to be successful,” he said.

For representatives, members and supporters of MD associations from New South Wales, Queensland, South Australia, Tasmania and Northern Territory all participating in this wonderful week of events, hearing this from Jerry reinforced their commitment to continue to work together to fulfil the mission of Muscular Dystrophy Foundation Australia of creating a cohesive, integrated and collaborative Australian MD community.

“We can’t thank Jerry enough for coming all the way here to support us, and we can’t wait to see him back here to head up a TV entertainment extravaganza”, MDF Australia CEO David Jack said.

“We deeply appreciate the great generosity and true friendship Jerry has shown us.

“With new support and awareness already building from Jerry’s time here, we at MDF Australia will do everything possible to ensure the momentum continues.

“I hope we will look back on this week as the beginning of a united and vibrant era for MD in Australia, inspired and supported by a man who has spent almost all his adult life leading the charge to improve the lives of people affected by muscular dystrophy”, David Jack said.

The king of comedy may be past 80 but he’s still going strong when it comes to putting his mouth where he wants your money to be - helping fight Muscular Dystrophy.

Jerry is bringing his special brand of comedy magic to Sydney’s Enmore Theatre on Monday 21 September for one night only, where he will be joined on stage by a host of Australia’s comedy royalty.

Paul McDermott, Mikey Robins, Peter Berner, Fiona O’Loughlin, Tom Gleeson, Kitty Flanagan are right behind Jerry in his Laugh For Life Show - with further announcements to be made.

Laugh For Life will feature Jerry’s riveting tales, accompanied by a full orchestra, as well as comedy sketches and song - all the talents that the world has loved from this magnificent performer for many decades.

Jerry is coming to Australia in September just to help Muscular Dystrophy Foundation Australia (MDFA) increase awareness of and raise the funds necessary to fight this devastating muscle-wasting disease. Thanks Jerry!

BOOK YOUR SEATS NOW AT TICKETEK!

For 59 years Jerry Lewis has been a very active and passionate advocate for Muscular Dystrophy in the United States in his role as National Chairman of the Muscular Dystrophy Association.

Unfortunately it’s not possible to bring Jerry to other parts of Australia on this occasion. His short time in Sydney will mainly be spent helping us to raise the national profile and awareness of muscular dystrophy, as well as meeting children and families at this one-off special event.

To those prevented by time or distance or circumstance from attending, Jerry sends his very best wishes.

The impetus for a voluntary register of all Australian boys with DMD is to provide them and their families with the opportunity to participate in international clinical treatment trials arising from advances in genetic technologies and gene therapy.

For Australian boys with DMD to be considered for inclusion in international clinical trials requires that Australia establish a National DMD Register which holds the necessary clinical information and Dystrophin gene sequence data.

The rapidly increasing knowledge of the genetic basis and molecular pathophysiology of DMD gained over the past decade is now being translated into the development of new therapies which are hoped will improve the treatment of DMD.

The potential benefits of the national DMD register would include enabling coordination of diagnosis, and ensuring that enrolment in clinical trials and therapy and any new intervention strategies are available on an equitable and consistent manner across Australia.

The register would also provide a central resource for sharing information between patients, doctors and researchers.

It is also expected that a national DMD register will further promote a sense of community among affected patients and families and provide ready access to information concerning standards of care, research and available therapies.

The initiative towards the establishment of a national DMD register came from Duchenne Foundation Australia in conjunction with muscular dystrophy associations, support groups and affected families who made representations to state and federal politicians and health ministers.

Following these representations the Federal Parliamentary Secretary for Health and Ageing, Senator Jan McLucas referred the matter of a National Register for Duchenne and Becker Muscular Dystrophy to the Clinical Technical Ethical Principle Committee (CTEPC) of the Australian Health Ministers’ Advisory Council (AHMAC).

The Office of Population Health Genomics (Public Health Division, Department of Health WA) prepared a briefing paper for CTEPC, including background and scoping documents for the development of the national register.

CTEPC members supported the submission and requested the Office of Population Health Genomics convene and lead a Working Group to prepare a report and recommendations paper on establishing a national DMD register.

Now convened, the DMD Working Group includes clinical, diagnostic, research and support group representatives from across Australia.

In May 2009 the DMD Working Group held a meeting of stakeholders attending the Genes for Health conference in Perth.

The Working Group has also been conducting telephone interviews with heads of  muscular dystrophy associations and support groups, as well as experts in clinical, diagnostic and research areas of DMD.

The feedback and information received by the Working Group has been very consistent and is being used to inform the development of a preliminary set of recommendations for the National DMD Register.  More targeted stakeholder comments will be sought on the document prior to the Working Group finalizing the report and recommendations for CTEPC.

From 20 September 2009, single pensioners on the full rate will receive an additional $32.49 a week and couples will receive an additional $10.14.

The rate at which the pension is withdrawn for each dollar of additional private income will increase from 40 cents to 50 cents. To counteract the disincentive this would pose to pensioners seeking employment, half of the first $500 of fortnightly employment income will be excluded from the income test.

Currently only one in 10 DSP recipients gains any income from paid employment.

The Government will also introduce a new Carer Supplement. It will provide:

• $600 pa to all Carer Allowance recipients for each person being cared for and
• $600 pa to all Carer Payment recipients

People who receive both Carer Payment and Carer Allowance will be eligible for both payments. The supplement will be paid annually and will be non-taxable.

The first payment will be made by 30 June 2009 with subsequent payments starting from 1 July 2010.

Source: National Disability Services (www.nds.org.au/national)