Newsletter: August 2009

This issue is full of news from the CNM / MTM community. As always, the Myotubular Trust has been hard at work raising funds for research. News is included in this issue about the research they are now funding and information about some of the fundraising events that have allowed this to happen.

There is also a report from the organisers of the MTM / CNM Family Conference in the USA, as well as personal experiences from Marie and Jona, describing what attending the conference meant to them; an update from the Joshua Frase Foundation about Nibs, the Labrador Retriever that has been found to be a genetic carrier for myotubular myopathy; news about the upcoming Jeans for Genes Day, which families in the UK can take part in to support families with genetic conditions such as CNM / MTM and much more.

The Information Point web shop has now raised £665.43 - thank you to all of you who are continuing to use the shop, your purchases really do make a difference, with all the money raised, being donated to the Myotubular Trust (UK) and the Beggs Laboratory (USA). Why not stop by and take a look at the growing number of shops featured and the special offers that are currently available.

The Information Point on Facebook now has 141 members and our Facebook cause page has 619 members, who are helping to raise awareness of CNM / MTM. If you are not yet a member of the cause but would like to help raise awareness, simply visit the cause page, where you can become a supporter, invite your friends and family to become supporters also and show your support by adding a badge to your profile showing the Information Point as your featured cause.

Thank you also to all of you who have taken the time to write something for this issue. Every story helps to raise awareness and shows the reality of living with CNM / MTM worldwide. Thank you for your time and generosity in sharing your lives in this way.

In my life, I finally graduated from the Open University. As many of you will know, I have been studying for six years, fitting it in around my full time job and the Information Point, so this was the end of a long road for me. On 5 June, along with many others, I donned my graduation gown, stepped up on stage to collect my Bachelor of Sciences award and enjoyed a very special day. Some weeks later, on finally getting to watch some video that was taken, hearing my dad shout 'Hurray', from the balcony, which I had not heard on the day, was another lovely moment. Dad celebrated his 65th birthday only a few days ago - happy birthday dad - love you loads.

If you have any comments about this issue of the newsletter or the website, please get in touch or complete our feedback form and if you have any ideas for future issues or things you would like to share, say projects, meetings, fundraisers, get togethers, milestones, accomplishments or anything else which you feel would be of interest to the community, please get in touch about these also.

The next issue of the newsletter will be the December issue, so enjoy what remains of the summer and I will see you all again at the end of the year.

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The Myotubular Trust have announced the first of their research grants. The Trust put out a call for grants last September and after a rigorous application and peer review process the Trust are delighted to announce their Scientific Advisory Board have recommended the support of two applications. Both research projects will begin in September.

The first project, which will be run by Dr Richard Piercy, a vet at The Royal Veterinary College, will use a naturally occurring Labrador dog model for the disease, to try and understand what aspect of muscle function has stopped working properly in these muscle conditions. To do this, he is going to take muscle cells from both a healthy and an MTM-affected dog, grow them in the laboratory and compare these cells for differences in cell pathology, such as cell size and shape. He will also compare the muscle cells for how well they work when asked to contract. This will give an indication of the strength of the muscle.

The second project, which will be run by Dr Anna Buj-Bello at INSERM, a French laboratory, will use mouse models for the disease. She will try a variety of therapeutic 'rescue' approaches such as gene therapy and drug administration. Her mouse models lack myotubularin either from just muscle or from all body tissues. She will then add back myotubularin, or a drug and monitor all of the body organs over time for health improvements. She will treat mice both prior, and subsequent to, the development of the clinical symptoms of MTM. Therefore these experiments will not only tell us whether this treatment will be suitable to alleviate the clinical symptoms of the disease, but also whether it could stop the development of the disease from the outset. The research output from both of these projects is likely to suggest therapeutic strategies to treat MTM patients of all ages.

The Trust is now in a position to put out a second Call for Grants this September meaning that further research can begin in September 2010, bringing ever closer the day when a cure, or treatment, can be found. However, in order to fund even more high quality and meaningful research projects in the future and accelerate the pace of research into myotubular myopathy, it is estimated that £225,000 needs to be raised year on year by fundraising for the Myotubular Trust. Every single penny of this money will go directly towards research and nothing else, as The Trust seeks specific private and corporate sponsorship for their core costs.

The Research Grant process which has led to the announcement of the first Myotubular Trust research grants is a complex process. Below Anne Lennox from the Myotubular Trust describes the stages, which have led to the announcement.

Firstly an 'advance notice' of a call for grants is issued to give the academic community time to hear about the funds available and to consider making an application. Different organisations and communities of interest are identified by the Trust and asked if they would publicise our advance notice; organisations such as the European Neuromuscular Consortium (ENMC), the World Muscle Society and Genetic Interest Group (GIG). This helps us ensure word spreads in the relevant academic fields.

The call for grants is issued in September and sets out the types of grant we would like to fund and the criteria with which we will assess applications. The call for grants and the relevant application forms are published on the Myotubular Trust website. Again, relevant academic organisations and interest groups are notified and asked to publish the notice of the call for grants in their usual communication channels such as journals, email groups, group meetings, etc.

Scientists are given a specific date by which their applications must be submitted. This is usually about a three month period as the application covers a very detailed scientific proposal, together with a detailed breakdown of the funds required which is known as a costing.

Scientists download application forms from our website and then work in collaboration with their university or laboratory to prepare a detailed proposal to send to us.

When all the applications have been received we begin the process of peer review. One of our goals in setting up the Myotubular Trust was to create a world class peer review process based on the very best practice in the medical academic community.

1. All the applications that fit into the remit of the Trust are then sent to each member of the Myotubular Trust Scientific Board. The Scientific Board is made up of eminent scientists in each of the relevant fields from which a cure for myotubular myopathy is likely to emerge. The current Board includes not only neuromuscular expertise but also neurology, cell biology, cell signalling, gene therapy and genetics. This range of expertise is required to be able to properly assess the different strands of science likely to be involved in applications. The Board also includes three non voting lay members to represent the views of patients and families.

2. The Scientific Board individually considers all the applications and then comes together to assess them jointly. They have two key decisions to make - which of the applications are the most likely for the Trust to fund and therefore merit being sent for peer review; and which international scientists should be asked to peer review each application - ideally 3 peer reviews per application. The choice of peer reviewer will be based on their eminence and renown in their field, the specific science they represent and any possible conflicts of interest.

3. The proposed peer reviewers are contacted by the Trust on behalf of the Scientific Board, and asked if they would consider reviewing a certain application. When they agree they are sent a series of questions, via an online questionnaire, which when complete they send back to us.

4. When all the peer review assessments have been received they are collated by the Myotubular Trust and sent to the members of the Scientific Board. They individually consider these reviews and then come together again to assess them jointly. They rank all the applications based on their interpretation of the peer review feedback and the criteria of the Myotubular Trust. They then make final recommendations as to which grants in their opinion merit funding.

The final decision as to which grants should be funded is then taken by the Trustee Board of the Myotubular Trust. We review the recommendations made by the Scientific Board, consider what we believe to be in the best interest of the CNM / MTM community and of course discuss and agree the financial provision required to guarantee the funds. When we have discussed and agreed all these factors, a final decision is made and both the successful and unsuccessful candidates are informed. We also make sure that all candidates get feedback about their individual application. An announcement is then made to the CNM / MTM community.

From receipt of completed applications to the final decision can take three to four months. This is to allow time for each stage of assessment to be made properly and to take account of the diaries and commitments of the scientists who so generously give their time and expertise.

Projects or fellowships begin in around September or October in line with the academic year. Each project will usually last between 2 to 3 years, with annual reviews received by the Trust. At the end of the project the results will be published and also shared with the CNM / MTM community.

Parents can often be intimidated by the medical jargon associated with a child's health condition but Dr Juliet A Ellis has kindly offered to help extend the work of the Myotubular Trust by providing affected families, carers and individuals themselves with simpler explanations about the European research taking place, helping us to achieve a better understanding of the possibilities of research and the language sometimes used by our doctors.

Dr Juliet A Ellis has already translated the Myotubular Trust funded scientific research projects into a lay article and will be providing a Research Glossary for the Myotubular Trust's new website, which is due to be launched very soon. What's more, Dr Ellis has kindly agreed to answer any general questions that you may have about the research processes.

Dr Juliet A Ellis trained as a biochemist at the University of Bristol, where she developed an interest in understanding the cellular mechanisms underlying inherited diseases. However, it was her post-doctoral work at Cambridge, working with Professor Martin Bobrow of The Department of Medical Genetics, at the university and with Dr John Kendrick-Jones at the Medical Research Council, Laboratory of Molecular Biology, where she was the first to identify a function of the nuclear protein emerin.

Mutations in this protein cause X-linked Emery-Dreifuss muscular dystrophy, a neuromuscular disorder with an associated life-threatening heart condition. This research led to her being awarded a group leader position in The Randall Division of Cell and Molecular Biophysics at King's College, London where she has expanded her work to encompass several more neuromuscular disorders and cardiomyopathies. In this role she has met affected families with a wide range of myopathic conditions and the clinicians who treat them.

Dr Ellis will not be able to answer personal queries concerning the treatment of individual patients
and all questions and answers will be published on the Myotubular Trust website.

This was the second year for the Thames Walk and once again was amazing success. Over 80 walkers took part and a team of volunteers handed out drinks and refreshments at various landmarks along the way ensuring that walkers were fed and watered and gave support and encouragement to all. The event raised a grand total of £28,576.55.

On Sunday 12th July more than 70 runners and countless supporters descended on St. James' Park in London to take part in the hugely popular London 10k, where thousands of people run on a meandering course which takes in the sights and sounds of London; from Buckingham Palace, through Trafalgar Square, along the Thames, past Big Ben and the Houses of Parliament, right back to Horseguards Parade.

This is the fourth year that the Myotubular Trust has taken part in this event and people attended as from as far afield as Wales and Scotland. Over £20,000 has already been raised so far and money is still coming in for this event.

For further information about the event or to take part on 11 July 2010, visit the Myotubular Trust website.

Anyone can fundraise, below are details of three fundraising events from a number that have taken place recently, to raise money for research. Visit the Myotubular Trust website to read about other fundraising achievement and perhaps to be inspired to organise your own.

Inspired by the Thames 20 mile walk, Peter Ryan, whose 19 month old son Aaron has myotubular myopathy, completed a Manchester 20 mile walk on Saturday 4th July along with Aaron's granddad, Ian Caddick and Aaron's carer, Tony Crook.

The route took in the beautiful landscape of Manchester, starting at Piece Hall in Halifax and finishing at Oldham Town Hall, via Saddleworth Moor, Ripponden and Sowerby Bridge and took 8 hours and 15 minutes for the 3 walkers to complete.

Peter is hoping to run another but quite different event next year and would like to make this much bigger, so if you live nearby, why not get in touch with the Trust about taking part.

The first Northcote Carnival in London was held on 19 June in support of the Myotubular Trust. Organisers of the Carnival, wanted to support a family and charity close to their hearts, so decided to support the Myotubular Trust in memory of Tom Lennox who spent his short life within the Northcote Road community. Northcote Road was often as far as Tom could travel because of having myotubular myopathy and he was known to many shopkeepers and local residents who were touched by his charm and personality.

The event began with a colourful parade. Primary school children from all the local primary schools on this famous London street (Northcote Road was voted London's second favourite shopping street in a listener poll by Radio 4's Today programme), all in themed costumes, took to the streets, as did members of the emergency services in various vehicles of all ages, a band and an array of helpers and teachers.

Local shops and businesses had stalls outside their premises offering raffles, face painting, Pimms, strawberries and cream and there was live music and performances all day. The event raised £3,000.

Local photographer Mark Anderson took many photographs of the event and these are available to view or buy at his website. Mark is generously donating all profits from these photographs to the Trust.

On Sunday 25th April, a team of 35 took part in the Royal Children's Hospital 'Run for the Kids' in Melbourne, Australia, in which, every team member either ran or walked courses of 5.7 km or 14 km.

'Team George' was organised by Michelle Gibb, an Australian parent, whose 16 month old son, George, has myotubular myopathy. The run is actually organised to raise funds for the Royal Children's Hospital where George spent the first 6 months of his life. However, Michelle, asked members of 'Team George' to support the Myotubular Trust too and they did, raising a total of AUS $2,000.

NOTE: Supporters in Australia wanting to follow in the footsteps of 'Team George' can pay
Australian dollars into the Myotubular Trust fundraising account, via the 'donate now' facility.

On Wednesday 15th April 2009, 10 year old Harry Beck and his friend, Oliver completed a 'Sponsored Stay Awake all Night'.

The duo managed to stay awake by having a 'bin fire' in the garden which they used to toast marshmallows and by playing video games, watching DVD's and by playing a game of Monopoly at 3.15 a.m. with mum, Jill as the banker. Between them, Harry and Oliver raised an amazing £140 for the Trust.

Events such as these are crucial to the Myotubular Trust continuing to raise funds for research.
Visit the Myotubular Trust website to read more about fundraising events and to take part.

The Myotubular Trust is delighted to announce that they will be selling their very own Christmas card designs this year.

To buy some, look out on the Myotubular Trust website from early October. The cards will be available to buy directly online.

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Jeans for Genes is a national UK children's charity; each year supporters wear their jeans to work to raise money for children with genetic disorders. Jeans for Genes believes that wearing 'jeans' is a great reminder of the 'genes' that you're raising money.

Genetic disorders are individually very rare but together they are the cause of more than half of all childhood deaths in the UK. The Jeans for Genes charity aims to provide funding for the care and support of children and their families and also help to fund research into the genes responsible and the development of effective treatments and cures.

To learn more about how supporting Jeans for Genes day relates to CNM / MTM take a look at the short film 'Changing the World for Children with Genetic Disorders'. The film is narrated by Sophie Lennox, sister of Tom Lennox, who sadly died from MTM in 2007 and also features Tom's mother, Anne Lennox one of the Trustees of the Myotubular Trust.

Jeans for Genes Day takes place on the first Friday in October and this year that is Friday 2nd October.

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'Yes, we can!' was the theme for the 2009 MTM-CNM Family Conference held at the Houston Airport Marriott in Houston, Texas on 24 - 26 July 2009. Over the weekend, the conference theme was transformed into 'Yes, we did!' as one hundred and twenty-three people representing 33 affected families attended the 3-day event that included social networking and education. This conference was the first MTM-CNM Family Conference of its kind to be held in the United States. Families from all over the country gathered together and united resources, ideas, and connections in the hope of strengthening the global MTM-CNM Community.

Paul Frase, President of the Joshua Frase Foundation and father of Joshua Frase, kicked off the event on Friday, sharing his personal story and discussing causes dear to our community. The conference featured prominent researchers, including Dr Alan Beggs, Dr Christopher Pierson and Dr James Dowling. Families listened to medical strategies on day-to-day care from Dr Farber and Dr Iannaconne as well as from parents who participated on a parent panel discussion.

Joey Wells, a 21 year-old, who is affected by MTM, gave inspiration during his Saturday night talk in which he described his journey that led to his publishing a book of poetry.

Alison Frase helped to close the event with a moving speech about the important research supported by the Joshua Frase Foundation including an appeal for families to get involved and build momentum to keep the fight to find a cure for MTM-CNM alive and well.

These lectures were heard around the world, as the event was webcasted. Glowpoint, Inc of Hillside, New Jersey donated this service along with Talkpoint and Houston-based AVI-SPL. The webcast allowed families from around the world to feel connected to the MTM-CNM community at this event and provided a global platform to share information about MTM-CNM.

Stesha Heselius-Mashinchi ran a special program for the siblings of affected children. Stesha states, 'The sibling conference was a phenomenal opportunity for siblings to come together and create a community of understanding and support. I am looking forward to the chance to meet and connect even more siblings in years to come'.

Outside the lecture hall important networking took place and friendships were formed. One particular heartwarming moment, that of two children meeting for the first time, was captured on video. Throughout the conference, the children played together and gathered for entertainment activities including arts and crafts by Project Sunshine volunteers, a balloon artist and a magician. A highlight of the weekend was having Rick Guidotti, Director of Positive Exposure, donate his time and incredible talent in photographing the children and adults affected by MTM-CNM. His work is truly breathtaking and his photos captured the spirit of each and every person living with MTM-CNM at the conference. Rick put together a poignant slideshow of some of his photos which was shown during the conference.

Throughout the weekend, parents exchanged ideas, hugs and tears. A reflection room displayed photos of children that have passed away from MTM-CNM and provided a space for attendees to pay tribute to the beautiful children we have lost to this disease who now serve as the inspiration behind our work for families affected by MTM-CNM. Parents were also treated to well-deserved massages generously donated by the Texas School of Massage. Conversations were rich and a brilliant support network grew out of this wonderful opportunity to connect in person with other families affected by MTM-CNM.

A video created by Chrissie Sanders illustrates the importance of this experience for the MTM-CNM Family community. John and Chrissie Sanders and their precious son Joey, were the inspiration behind the creation of a special award - The Joey Award - given to the family who makes the greatest impact on the MTM-CNM community each year. This year, The Joey Award was given to John and Chrissie Sanders for going above and beyond, in light of their son Joey's passing, to make the Family Conference a reality for us all.

Many families who were not able to attend the conference in person also contributed to the weekend by sharing their photos for the slideshow shown on Saturday night, which can be viewed on the webcast archive and by sharing their stories for the creation of the MTM-CNM Family Directory. The MTM-CNM Family Directory is a collection of family stories, photos and contact information that will continue to be developed after the conference. If you would like to be part of the directory, please email your story, contact information and photos to the MTM-CNM Family Conference organisers. Immediate family members or individuals affected by MTM-CNM may also request a copy of the Family Directory in this way.

With the first US MTM-CNM Family Conference being a huge success, plans and discussions are already underway for the second annual conference! For more information or to get involved with future MTM-CNM Family Conference happenings please visit the conference website or email a member of the conference team.

On November 6, 2007, I experienced one of the most isolating experiences of my life. It should have been wonderful. I should have been cradling in my arms my newborn son. Instead, I was laying alone on a stretcher, wondering what was wrong with my third child, listening to other mothers in the room whisper to each other, 'Her baby is sick'. When I first became a mother to Lucian in 2003, I felt unified and related to all mothers, but when Reid was born four years later, I felt like an oxymoron, a childless mother. I was alone.

However, it wasn't long before reality set in and I realized that I wasn't alone, that I did have a loving family to support me and that I also had a new little son who desperately needed my love and my strength. I wasn't quite alone, but I felt an absence in that there wasn't anyone who could really understand my feelings and my experience.

Once we got Reid's diagnosis of Myotubular Myopathy, we began searching the web for information and one of the places we ended up was The Information Point for Centronuclear and Myotubular Myopathy. What a relief for me to find the stories of other families and children who were experiencing the very same thing as we were! I didn't know any of these people personally, but I was connected to them at once! I really wasn't alone!

After I joined Facebook and began networking among the CNM-MTM community, I discovered in these remarkable people an abundance of empathy, support, and love. When my friend and fellow MTM-mom, Connie Guinn, first told me about the conference in Houston, I was deeply interested yet not convinced that we could manage travelling so far with Reid. Then, as my many friendships within this beautiful community blossomed, I became absolutely determined to get to the MTM-CNM Family Conference, whatever the difficulties or the cost.

Prior to leaving, I picked up a few travelling tips from other 'Facebook friends', like Shannon Mashinchi and Amanda Hollingsworth, and I'm happy to say that keeping Reid on the vent and giving the frequent nebulizer treatments, as they recommended, really helped Reid to travel well on the road. Still, the journey was not an easy one. My husband, David, his mother, Sheri, and I along with our three boys drove eight hours from the Bronx, NY to my parents' home in Virginia Beach, VA, where we dropped off our two older children, Lucian and Blaise. Then, it took another 22 hours of driving from Virginia Beach to Houston, Texas. At times, it was extremely tough, and we had to do with some horrible deprivations - for the life of us, we could not find a Barnes and Nobles Bookstore in Alabama, Georgia, or Louisiana!

We were also a little disappointed that we didn't catch sight of any gators in Louisiana, but we did see a couple of armadillos on the roadside! To make the trip more manageable, we broke our journey from Virginia to Texas by spending a night in a hotel, and it was pure bliss to be able to sleep horizontally with my legs fully extended!

Whatever the challenges, however, the conference was beyond 'worth it'. The reward of listening to the brilliant doctors, learning about cutting-edge research, and most of all meeting the caring, sacrificial MTM-CNM families with their beautiful, love-enabled, wonder-enabled children far exceeded any of the discomforts or financial costs of travel. While the conference was extremely well-organized and directed thanks to the excellent work of the planning committee - pats on the back all around, or should I say 'massages' - the best times for me were the unplanned, almost haphazard encounters and conversations that took place, such as my first mornings greeting by the sweet, smiling faces of Connie Guinn and Staceyanne Fontana at my door, smooching with my eight year old 'boyfriend' Javad, hot-tubbing on Saturday night with Stesha Mashinchi, Jona Riley, and Javad's nurse, 'Deb', even robbing time so a few of us could have video chats on Skype to include, spiritually if not physically, one of our CNM family across the Atlantic, the incomparable Ian Myatt, my best friend.

All of these 'accidental' moments are treasures that I will always keep. The most precious of my memories, which was also one of the defining moments of the conference, for me personally, was when Debbie Maughan brought her bright, adorable, two-year-old son, Kash, into our hotel room to meet Reid. With not a seconds hesitation, our two boys reached out for one another, touching each others hands and faces, communicating in their own special languages - Reid's babbles and Kash's signs - but somehow speaking the most beautiful message in their eyes and their tender touches of wonder and delight. These two little stars, strangers until that moment yet instantly linked by their shared experience and implicit understanding of each other, perfectly represent how I feel about the people that I met this past July.

I have been touched and transformed by their stories, their struggles, and their strengths. We fellowshipped in both tears and joy, and I will never forget any of them. I believe so much in this event that I've even committed to being a part of the planning committee for next year's conference. I can't wait to see everyone again as well as many more new faces, especially some overseas friends (I'd especially like to work on that project!), who will discover as we all have that they, too, are most certainly not alone!

Jona Watson-Riley lives in Dallas; her 18 month old son, Jack is diagnosed with MTM. Below Jona writes about her feelings in the run in up to the conference, the momentous decision to attend and what attendance at the conference means to her now.

I think when I first heard about the Conference I was very sceptical, mainly because I was not 'in touch' with any other Mom's yet. My very first thoughts went to wondering what kind of research was really being done to help build Jackson's muscles, and what if any research was being done on his super-rare disease because at the time I hadn't read anything too promising. In fact, I was thinking what, there will be like 20 families max? And can I truly handle more gut-wrenching gloom and doom about my son who has continuously defied all the odds. However, I let the Mommy in me get her way and I immediately asked for help to get there. Then I made reservations at the hotel, when I did that I was saying to me 'Okay, you're committed now'. Then, I had to get the plane tickets, and the thought 'There's really no backing out now'.

I got on Facebook not too long afterward and 'met' Connie Guinn. To my relief she then introduced me to what felt like a million names and faces that were all connected by this one terribly awesome 'type' of disease. I say terribly awesome, because it's a terrible disease, but that something could bring people together in this way, it was crazy and awesome to realize. Connie then proceeded to ask me if I was coming to the conference, I took a deep breath and answered 'Yeppers', and Connie (as you can all imagine) got very excited, and suddenly I was very excited, and I wasn't the only one, either, there were a lot of people talking about going.

To say I was a bit nervous is probably an understatement. I mean I had been pretty much homebound since our 4 month stint in the NICU, or our 2 weeks in Dallas Children's Hospital. Outside of Doctors nurses, nursing companies, Medicaid, State, and SSI officers. I think I had maybe spoken to a handful of people and pretty much all of it had been about family. Then I 'met' Toni Abram, Shannon Maschinchi, her daughter Stesha, Marie Wood, Ian Myatt, and a whole list of Mom's and Dad's and suddenly I was just excited.

This year wasn't the year for the boys to come and Guild and I couldn't both leave, we just don't have enough nursing for that, so when the decision was made, that was it, the next thing I new I was leaving my family, my house, my dogs, and my routine, I was going on 'vacation'.

One thing I will mention is that Jack's nursing recruiter, (the guys / gals who do all of our nursing scheduling, firing, and hiring, and do a fabulous job of it) Marco Hernandez, had previously moved close to Houston, and took the time out of his busy day to take me out to lunch as soon as I got to town. It really set the mood for the weekend visiting with someone who is all about Jackson and all about helping people.

I must say Epic Medstaff really took the plate in helping to make sure I was able to go to the Conference, and made sure we were totally staffed with our reliable nurses while Mommy was out of town. My Mother-in-law, Sara Ousey, took care of our 3 year old Reid so that I could catch a plane early in the morning Friday. My parents John and Dona Watson, and my Grandma Donna Rexroad helped us out financially so that I was able to attend. Everyone in our support tree really helped make it possible.

The biggest goof of my weekend was that I ended up at the wrong airport and therefore the wrong Marriott Hotel. HA!! It was bound to happen to someone!! So, after a lot of rigmarole I ended up at Enterprise Rent-A-Car, and drove across town with directions from the rental place, Marie, Shannon, and finally Connie. I finally made it to the right place and a lobby full of motorized MTM boys! WATCH OUT!!! These kids don't let anyone tell them!! Shannon's son Javad was my first introduction, and he ran over Stesha to get away!! I didn't blame him, everything was a little overwhelming. From there on in it was like being in a dream, meeting so many people for the first time, and trying to put their names with their Facebook faces, still makes me laugh. I looked at Betsy Grant and had to look again when someone pointed her out to me, I laughed and had to give her a hug. That's what a lot of that first couple hours were, hugs, lots of hugs, and hi's and names, more names than I think I've ever tried to remember all at once in my life. But mostly the boys, I was already wishing my boys were there and fantasizing about my boys seeing all these other boys and their siblings, and then I was off to meet and greet!!

The speakers were great, very thorough and easily understood, even when the crazy biology and chemistry came out, it was all understandable on a basic level. I learned for the first time that we really were doing just about everything possible for Jackson, and for Reid. I finally realized that I'm not alone, there really are people that 'get' what we've gone through. None of the stories are the exact same but they all have that inevitable ring of unbelievability, except that you know that they are all so very true, just like we know that our own private nightmare / dream is all true.

The hardest part was the deaths, the losses, the faces, the possibility that these kiddos, and these teens, these adults could be overlooked, or thought of as unimportant. The hardest part was realizing all over again that this is just the beginning for our family. Jackson is still so young, and although the last 18 months have been insanity it's just the beginning. Seeing the slideshow of all the people that are known to have or have had, or have lost or gained from this disease is flooring.

Saturday night was awesome, I was able to hang out by the pool with Joey Wells, Cindy Wells, his sister Sheila, and his two brothers Will and Daniel, Daniel's wife, their son Braden, and Stesha. I really came to understand that through their love and tight-knit family, that Joey's come so far in his life. It gave me hope that Jackson has a better chance than I ever realized before, and I really started looking a little to the future.

By Sunday I was simply 'Ready to go Home'. I wished I could take everyone back to the house in Dallas to meet my kids, but I know that I'll do whatever it takes to get all the Texas Families to the conference next year, no matter where it is. I also know that this is why I was put where I am now, where I am in my life, why Jackson and Reid, the biggest gifts, and greatest responsibilities, were given to me, why I am who I am. I was meant for this. When I got home the words that were repeated over and over again everywhere were 'Life-Changing'. That's the words that I'm using for this, the only ones that I can even come close to describing the weekend and the aftermath, 'Life-Changing'.

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In the April 2009 newsletter we reported that a Labrador Retriever going by the name of Nibs had been found to be a genetic carrier for myotubular myopathy.

For researchers in America, finding Nibs was an important step, as the Federal Drug Administration (FDA) requires that doctors show success in clinical trials from a large experimental model, such as a dog, to develop and test treatments for safety and efficacy before running human trials.

We can now report that Nibs has delivered 12 puppies, 6 of which also carry the MTM gene and the dogs that carry the gene are enabling the researchers at the Wake Forest Institute to learn more about neuromuscular diseases than they ever have before. The knowledge gained from these animals may one day lead to treatments not only for MTM but other neuromuscular diseases.

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Mark and Erin Ward worked in collaboration with Elizabeth DeChene, Research Coordinator / Genetics Counselor for the Beggs' Lab, to create the 'Beggs Laboratory for Congenital Myopathy Research Team'.

In honour of their son William, who has X-Linked Myotubular Myopathy and all the other individuals who have some form of Myotubular Myopathy / Centronuclear Myopathy, the Ward's family and friends raised over $7,000 for the Beggs Lab and this important research.

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It has come to my attention that there are two ways that we can view ventilators. Traditionally, ventilators are viewed negatively, and are considered the 'kiss of death'. They are considered as fervent attempts to stall the inevitable, the last resort on the final leg of the journey of life. It's what is used at the end of one's life to try to prevent death. It's the 'last thing you would want to happen', and it is considered 'a real shame' to be placed on one. When friends and family hear that your loved one 'has' to be on a ventilator, they exhale their breath forcefully as their will surrenders to the concept of this new fate for them.

This is what I first learned about ventilators, and it is how I first came to view them. It is a widespread view point, that is embraced by most people. But, I have come to know another way to view ventilators.

There is another group of people, a small, little known group who view ventilators positively, and consider them to be the 'breath of life'. To this group, ventilators are not considered as a sign of dying, but they are considered a step towards life. This group sees a ventilator as a tool to assist their loved one through life - like using a pair of crutches or an antibiotic - a temporary tool to help get them to the next place of life. This is the group that I find myself in the middle of. I know these concepts all too well. In this group, we think of the ventilator in a totally different way.

Let me try to explain: Every day in life, we constantly invent or acquire new things that will help make our lives easier, things that will help us to do what we are already doing - just making it easier to do. For instance, we have a steering wheel in our car.... and then someone invents power steering, which is just a way to make the steering - something we are already doing - easier. Or, we have a screwdriver... and someone invents power tools, which is a way to make using the screwdriver - something we are already doing - easier. Or, we have a wheelchair... and someone invents power chairs, which is a way to make propelling ourselves in the chair - something we are already doing - easier. In the same way, this group likes to think of ventilators as 'power breathing', meaning that the ventilators are simply a tool that makes it easier to do what we are already doing - breathing. To do this seems to be the natural order of things. For instance, when infants are too weak to stand or walk, we put them into contraptions (walkers) to aid them with this. When our bones break, we put them into contraptions (casts) to aid them with correct re-growth. It is what we, as humans, do. We are constantly striving to figure out ways to help make things easier for us.

It is no different when we are talking about the lungs. Our lungs draw in breath to nourish every cell in our body with rich oxygen. This is necessary for our survival. When our lungs are too weak to do this effectively on our own, we just go and get some assistance - something that will make this process easier. We go and get a ventilator. It is that simple. This ventilator then helps us to draw one precious breath of life, after another.

So now you see why we don't consider it to be the 'kiss of death', but rather, we embrace it as the 'breath of life' that it is. It's a really beautiful thing!

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Through My Eyes Verse 8.8.08 is a book of poems by Joey Wells. Joey was born on 8 August 1987 in Goliad, Texas and was diagnosed with myotubular myopathy at 8 months old.

The title of the book symbolizes Joey's twenty-first birthday. There are twenty-one poems each of which is accompanied by a picture - one of Joey's highlights because he says 'they reflect the poems and give you the visual of what I am saying'.

Joey states 'I wrote the book because I feel my people need a voice. I am not just talking about people with disabilities. I am talking about everybody that wants to better themselves, accomplish their goals, and to capture their dreams'.

'I have been through many near death experiences. I lost people that I care about. I have challenges with daily activities. I have my good days and my bad days. But no matter what difficulty arises, I know there is a way to get through it and benefit from the moment. If you have the desire, you can do anything. But you must know that you can't expect anything to happen overnight. If you work and work at it, you will eventually get to be where you want to be. With this book, I am one step closer to being where I want to be, making a difference for my people and taking care of my family'.

In 2008 Joey was named the Los Angeles Goodwill Ambassador for MDA and was awarded the Robert Ross MDA Personal Achievement Award, for outstanding achievements and demonstrated success in over coming the challenges of neuromuscular disease. Joey is also one of the founding members of the Glendale Rough Riders, a professional wheelchair soccer team, of which he is currently team captain.

Joey says 'Having family and friends support me through my ups and downs with muscular dystrophy, they have allowed me to go after my dreams ... having a disability has not hampered my ability to attain my goals. From hospital stays, to playing tee ball, working with MDA, and attending college, the journey of my life has taught me a lot. I am blessed to live the life that I live. Having a disability has shown me the true beauty of life'.

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The MTM equipment exchange on Facebook has been set up by Shannon Mashinchi as part of her non-profit organisation called Javad's Place, the aims of which are education and connecting families.

Shannon says 'This is something I am very passionate about. Many of us have equipment or supplies that are overflowing, while others are barely getting by. By creating an environment where we 'pay it forward', we can share items that we don't need or our children have outgrown'.

Equipment or supplies to exchange:
Post them on the equipment exchange page. You can leave details about the item, say make and age or item or dimensions of the item and post photographs of it.

In need of equipment or supplies:
Post a message detailing the items you require.

See an item that matches your need or see that you have something that someone needs:
The format of the exchange allows you to post a message, ask a question about an item or message the other party for further information or to arrange an exchange.

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Experts are required to join an inter-continental collaboration between TREAT-NMD, the Nemaline Consortium and US members to form a Committee for the Standard of Care for Nemaline and other Congenital Myopathies such as Centronuclear / Myotubular Myopathy.

There has been rapid progress in the understanding of the molecular genetics and pathogenesis of the myopathies in recent years, however, the level of the medical care for this group of patients has not matched the progress of the current advances in medical technology. The aim is to form a committee to look into this issue and to achieve a consensus for the standard of care for this group of patients.

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The Muscular Dystrophy Campaign has been nominated as Tesco charity of the year. The aim this year is to raise £3 million to fund vital specialist equipment for children with muscular dystrophy and related muscle diseases across the UK.

On Friday 25 and Saturday 26 September collection days are being held across the UK and the Muscular Dystrophy Campaign are asking people to donate 2 hours of their time to support their Strength in Numbers campaign by collecting money outside their local Tesco store.

National collection fundraisers are important to the Muscular Dystrophy Campaign - they are the face of the charity, helping lead the fight against muscle disease. By giving just 2 hours of your time to support the Strength in Numbers Appeal, you will be helping give children the equipment they need to be independent.

The Muscular Dystrophy Campaign has launched its first ever website for children and young people.

The website is designed for anyone 18 years old or younger and has been split into two - content for those under the age of 13 in one part and alternative content for those over 13 years old in the other part.

My Online World features jokes, riddles, news, reviews, fact files and celebrity profiles. There are four chat rooms for the under 13's and four chatrooms for the over 13's, three games to test word power, skating skills and nautical dexterity and there are leader scoreboards for each game, so you can check out how you compare with your friends.

Users can design their own character which will appear in the chat rooms and other places and a pest control bird features above the Thought Tree and in every chat room - so users can report bad behaviour, such as cruel or nasty remarks, if necessary.

Those who want to share their ideas with the world can either blog or tag the websites Thought Tree, where words are archived to inspire future website users.

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Contact a Family is looking for families whose children have had their Disability Living Allowance (DLA) suspended once they have been in hospital for a certain amount of time.

At present, DLA regulations state that if a child under 16 is in hospital for more than 12 weeks their DLA payments are suspended. For young people aged 16 and over, the payments are suspended after only four weeks. This can impact on a parent's entitlement to continue getting Carers Allowance.

Contact a Family thinks this is wrong and are gathering evidence from families about the effect of this benefit rule, to highlight the issue and push for change.

Claire Pimm, the Director of Policy and Communications for Contact a Family, says 'Children who have long-term health needs are often in and out of hospital and this puts tremendous pressure on their families. It is wrong that they are financially penalised at such a difficult time'.

If your child's DLA has been suspended after a stay in hospital, please get in touch with Elaine Bennett on 020 7608 8741 or by e-mail.

Contact a Family is calling for families with disabled children to seek urgent advice about their benefit entitlements.

From 2010, the government will contribute £100 every year to the Child Trust Fund accounts of disabled children, with severely disabled children receiving £200 per year. To benefit from these payments, a child must receive Disability Living Allowance (DLA) and have been born on or after 1st September 2002. The first payments are due in April 2010 for those in receipt of DLA at any point in 2009-10.

Sarah Rush, Head of Advice at Contact a Family, says 'DLA is the key benefit designed to meet the additional costs of raising a disabled child. Despite this, more than half of families with disabled children are not claiming a potential £119.45 per week. It is crucial that all families with disabled children who are eligible for DLA make a claim. For those families whose children are seven and under in September, you should make a claim now to ensure your child receives the significant annual payment to their Child Trust Fund'.

Families with disabled children face enormous financial challenges and are more likely to be living in poverty than other families. Despite this, many are not claiming the benefits they are entitled to.

Sarah Rush adds: 'We would urge families to telephone the helpline for advice about claiming DLA and other benefits and maximising your income. We would also urge families already in receipt of DLA to have a full benefits check to ensure you are getting every penny you are entitled to'.

Employment Support Allowance (ESA) came into effect in the UK at the end of 2008. In this podcast one of Contact a Family's advisers provides more information about this benefit.

Many families have children with special needs whose medical condition is often never diagnosed. This can make it difficult for the family to access information, support and services. Challenging behaviour can be a feature of many different conditions and it can vary from emotional to physical difficulties. This podcast features a mother's experience of having a child with an undiagnosed condition and challenging behaviour.

Free Calls to Contact a Family

Contact a Family has received confirmation from the Telephone Helplines Association (THA) that calls made to their freephone number 0808 808 3555, within the UK, from a number of mobile providers, are free. This includes Orange, 3, Virgin, T-Mobile, O2 and Vodafone.

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Action for Access is a new campaign from the Leonard Cheshire Campaign which gives you the opportunity to survey your local community and join the campaign for an accessible UK.

Every day disabled people face barriers to doing shopping, visiting the cinema and theatre, paying their bills, using the bank and post office and having a drink in the pub. Despite the Disability Discrimination Act which came into force in 1995, much of the UK remains simply inaccessible to many disabled people. Action for Access gives you the chance to start to put this right. Whether you're a disabled person, a shopkeeper or service provider, an elected representative, or an interested individual, we can all take Action for Access.

You can help Leonard Cheshire Disability build an accessibility map of the UK in the following ways:

Survey local shops, pubs, businesses, sports venues, banks, restaurants and anything else you come across in everyday life. Enter your results into the Access Map, and see what other disabled people in your area are saying about access.

Whether you run a corner shop, a leisure complex or a holiday centre, you have a duty under the Disability Discrimination Act (1995) to provide the same level of service to disabled customers as non-disabled customers. Read information about the Disability Discrimination Act here.

Talk to disabled people in your constituency about their experiences of access. Check your own accessibility too - can disabled constituents access your surgery, access information and contact you in a variety of ways?

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The US based Genetic Alliance and Partners have created a resource called 'Does It Run In the Family', to help people collect their family health history information and share it with relatives and healthcare providers. The goal of the booklets is for individuals, families, and communities to use their new knowledge about family health history to increase their communication about health and become healthier people.

The booklets have many parts that can be customized: personal stories about health, pictures of familiar faces, questions to ask relatives, disease information, local resources, quotes, and more.

You can order your customized books from a printer for the cost of printing and shipping or download them to your desktop for free. Then you can print them yourself or distribute them electronically, through email or by posting to your website.

These booklets are useful for any group of people that has something in common: a family name, geography, job, culture, race or ethnicity, age, gender, sexual orientation, disability or other health condition, or a shared interest.

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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 ~

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'I Give You a Flower With Love' and Christmas Tree images from Dreamstime

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