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Welcome to the spring issue of the Information Point newsletter. This issue is full of news from the CNM / MTM community including news from the Myotubular Trust and the US Family Conference planning team, research news and stories from affected families. The Information Point webshop has now raised £665.43 - thank you to all of you who take the time to do your shopping there and to those of you who are helping to promote the site by forwarding the web shop mailings to others. All money raised by your purchases, continues to be donated to the Myotubular Trust and the Beggs Laboratory. The Information Point Facebook group is continuing to grow and now has 105 members from around the world. If you are not already a member it would be great to see you there; once a member, you can ask questions on the discussion boards, add links and post photos and videos. Our Cause page is now being supported by 416 people, who are helping to raise awareness of CNM / MTM by including the cause on their profile page and inviting their friends and family to support the cause too. One new cause member can generate many new supporters and so help raise awareness among people who would never usually hear about the condition - thank you to all of you who are helping to spread the word in this way. In March, the Information Point celebrated its 8th birthday. Back in 2001 when it all started, the website was very basic and very very pink (take a look at the way back machine to see how the website has changed over the years), however, the aim of the website has remained the same; to help people in their search for information, bring sufferers together and create awareness of this rare condition, providing a one stop shop where people can find all the information they will need at their fingertips in the early days of diagnosis and beyond. Also to provide help to those whose work may bring them into contact with affected individuals. The milestone seems a timely point at which to review the work that is being done, so a feedback form has been created for this purpose. I hope you can spare a few minutes to answer the questions; your responses will help gauge where things are being done right, whether the Information Point is achieving its aims and where things could be done better. On a personal note, I am pleased to announce that I have finally completed my bachelors degree. My final course was Innovation: Designing for a Sustainable Future, for which I undertook a project to design an all terrain vehicle for a child with a disability. It was a tough year both in terms of the amount of work the course required and the fact that it was the culmination of 6 years of part time study but in December I learned that I had passed the course with a distinction. I know for a fact that I would not have got through this final year without the help of everyone who answered my many questions, emailed me advice and sent me kind words of encouragement, so would just like to take the opportunity to say thank you for all the support and kindness I received. I hope you will enjoy reading this latest issue of the newsletter; if you have contributed to this, thank you - neither the website or the newsletter would be possible without your contributions. If you have any ideas for future newsletters or are involved in any projects, meetings or get togethers over the coming months or would simply like to share your story on the website, please do get in touch.
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A group of researchers have recently published an article in the journal Neurology, concerning the identification of a new mutation in the Dynamin 2 (DNM2) gene - the gene associated with the dominant form of centronuclear myopathy. The mutation has two peculiarities; firstly, it is located in the middle of a group of mutations that induce neuropathies, therefore, the position of the mutation does not produce the associated phenotype - in this situation, there is no genotype-phenotype relationship. Secondly, the mutation is associated with a form of the disease intermediate of severe forms that occur in children and mild forms observed in adults. ______________________________________________________________________________________ Back to Top All articles relating to CNM / MTM that have been partially funded by the US National Institutes of Health (NIH) are now available at PubMed Central as a result of the NIH Public Access Policy. This is good news, as previously the Information Point has only been able to link to summary / abstract text, rather than full articles, due to the cost of purchasing and copyright issues relating to these. The NIH Public Access Policy ensures that the public has access to the published results of NIH funded research. It requires scientists to submit final peer-reviewed journal manuscripts that arise from NIH funds, to the digital archive PubMed Central upon acceptance for publication. To help advance science and improve human health, the policy requires that these papers are accessible to the public on PubMed Central no later than 12 months after publication. At present there are some 217 articles which are returned when searching for CNM / MTM and as such, a decision has been taken to link to PubMed Central from the Information Point, rather than linking directly to individual articles. In order to view an NIH article, visit the PubMed Central website and use the A-Z to search for a subject. The articles are free to read, download and distribute from this location. Whilst NIH are not the only organisation to publish articles on CNM / MTM, the release of their articles for free at PubMed Central is a positive step in getting information about CNM / MTM in to the public domain. There are currently no plans to make access to any other articles free, however, abstracts of non NIH funded articles are available at PubMed. This website links to the journal webpage where full articles can be purchased. The price varies but they are usually around US$30, although occasionally the articles are free depending on the journal and there is a trend for some new journals such as the Public Library of Science (PLOS) to give free access. ______________________________________________________________________________________ Back to Top
The Beggs' Congenital Myopathy Research Program is led by Alan Beggs, PhD, a human geneticist trained at Johns Hopkins and Harvard
Universities. Alan founded the Beggs Lab in the early 1990s. He is an Associate Professor of Paediatrics at Harvard Medical School and was recently
named the Director of the Manton Center for Orphan Disease Research at Children's Hospital Boston.
During 2008 the Beggs Laboratory took on 9 new members of staff and the lab has seen a dramatic expansion in its efforts in many important areas. Using zebrafish and mouse models of congenital myopathies, the lab has identified new potential muscle genes and started testing possible treatments.
Zebrafish are fish with a genetic make-up and muscle structure remarkably similar to humans. Their small size, muscle structure, and ability to rapidly reproduce make them great models for the study of genetic muscle diseases. Their muscle structure can be seen clearly under a microscope. Dr Vandana Gupta is utilizing zebrafish to help identify new potential candidate genes for the congenital myopathies. Zebrafish eggs exposed to certain chemicals, known as 'mutagens', develop into fish with genetic mutations that affect normal muscle development. The fish can then be studied to identify the non-working gene and see if it is a candidate gene for one of the congenital myopathies. Marek Kozlowski is targeting specific genes called myotubularin-related (MTR) genes, which are the genes related to the MTM1 gene associated with X-linked myotubular myopathy. Marek is making the MTR genes not work in the fish through the use of special substances called morpholinos. These studies allow the laboratory to research the effects of these non-working genes on the muscle structure and function.
Mice are excellent models of human disease, because they develop quickly (a mouse reaches adulthood within two months) and their genes and body structure are very similar to humans. The first step in working with mice that are a potential model of human disease is to understand their symptoms and how the disease affects them. After establishing the degree of their weakness, it is possible to try potential therapies. The impact of a myostatin inhibitor on a mouse model of X-linked myotubular myopathy is currently being tested. Myostatin is a natural substance in the human body that inhibits muscle growth and keeps muscles from getting too big. Patients with X-linked myotubular myopathy tend to have smaller muscle fibers than individuals without the condition. Therefore, it seems possible that treating patients who have X-linked myotubular myopathy with something to inhibit myostatin could allow their muscle fibers to get bigger and thus improve some of their symptoms. Other potential avenues of treatment being considered include gene therapy and antioxidants.
X-linked myotubular myopathy is an X-linked condition, meaning the causative gene is located on the X chromosome. Chromosomes contain all of our genes. Males have one copy of the X chromosome and females have two copies. Therefore, women who are carriers of X-linked conditions often do not have symptoms, since they have a second copy of the X chromosome to keep them healthy. Literature suggests that most women who are carriers of X-linked myotubular myopathy do not have symptoms. However, many mothers of boys with X-linked myotubular myopathy anecdotally report experiencing some degree of weakness or other possibly related symptoms. Therefore, in the coming year, the Beggs Lab will be launching a survey to ask female carriers of X-linked myotubular myopathy what, if any, symptoms they are experiencing. Further information will be available shortly.
In November of 2008, Children's Hospital Boston was given a large donation to create The Manton Center for Orphan Disease Research, which will be dedicated to supporting the study of rare diseases like centronuclear and myotubular myopathy. Alan Beggs, the founder and director of the Congenital Myopathy Research Program, is the first director of the Manton Center. As part of the Center, an endowed chair for the study of rare diseases was created at Harvard Medical School. Dr. Beggs will be the first incumbent, which guarantees his ability to remain focused on the study of CNM and other rare diseases for many years to come.
The Beggs Lab is currently enrolling patients and their families into their studies on congenital myopathies, including centronuclear myopathy and X-Linked myotubular myopathy. Families taking part should not expect that participation will have any direct impact on their medical care, however, they can be confident that their help is crucial to moving forward towards a better understanding of these diseases and eventual development of improved tests and treatments. For some families, results from these studies have opened the possibility for genetic counseling, carrier testing and prenatal diagnosis. These families have used this information to make informed decisions about family planning and other events in the future. Some participant families opt not to find out their genetic status. They just want to contribute to research, hoping that their participation will benefit others along the way.
The congenital myopathies are generally not well understood, however the Beggs lab recognise that they must start somewhere and so count on volunteer families to enrol in their studies. If you are the parent of an affected child, or if you yourself are affected, you can make an important difference by taking part and helping researchers learn more about the congenital myopathies.
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Joshua Frase has myotubular myopathy; he was born on 2 February 1995 - at the time of birth, his muscles were so weak that he could flex only his right hand and his lungs could barely draw the air that he needed to breathe. His parents, Paul and Alison, were told that he may not survive the day. The following year Paul and Alison founded the Joshua Frase Foundation; the Foundation is dedicated to supporting ongoing medical research and to discover causes of and cures for myotubular myopathy and other related congenital myopathies. Fast forward to 2008, Joshua is 14 years old and Alison, now Vice President of the Joshua Frase Foundation, learned of a female Labrador Retriever carrying the same gene as Joshua and her. Recent breakthroughs in the regenerative medicine that the Foundation funds, means that DNA from such an animal would help them develop a therapy and start clinical trials. Below, Alison tells of the journey she took to obtain the dog that could save the life of her son and other children with myotubular myopathy.
She located a family that owned the sister of Trixie - her name was Nibs. Dr. Snead learned that Nibs also gave birth in August and two out of ten female pups were affected, providing definite confirmation that Nibs was a carrier of the same gene. Dr. Snead provided me with a contact number for the owners of Nibs, Vic and Karen Wagman located in Leader, Saskatoon in the Saskatchewan providence of Canada. I called Vic, not knowing to what extent of involvement, if any, he would consider concerning our research. I thanked him for calling and explained where we were with research and what we needed to do get to clinical trials. I then shared with him the time clock Joshua was facing and told him about the nine children we had lost just this year and before I could finish Vic said, 'I want to give you this dog, I want to be able to help your son'. I was overwhelmed with joy, the anticipation with what was taking place before my very eyes was beyond words and I was overwhelmed that someone I just had met was willing to give me their dog to further our cause. Paul and I agreed that night that I needed to get on a plane immediately, as we felt the urgency to acquire the dog as quickly as possible. Vic and Karen adjusted their schedule and drove six hours round trip to meet me in Saskatoon with Nibs. It was a very heartrending meeting and words are not enough to express the gratitude for their contribution for our Joshua and the Joshua's of the world.
It was a very touching goodbye for me. These folks that I had only met a few weeks earlier via the phone had given me their dog of four years. Since the airlines had lost my luggage along with the dog carrier, Nibs and I took one flight to Minnesota to break up the trip for the two of us and borrow some clothes. We stayed with my girl friend Lisa Alipate and Nibs had a blast playing with her six children. The following day Nibs and I went standby on the second flight direct to NC, after almost being separated by the airlines earlier that morning.
My guard was constantly up; looking out for Nibs' safety and her care. Upon arriving I handed Nibs over to one of my researcher's, Dr. Martin Childers and his wife Shari; it was very emotional for me. I was torn between knowing what Nibs needed to do for our son at Wake Forest in NC, but I also knew that she belonged with me. While I was still in the airport waiting for the last leg of my flight, I called one of my researchers at Wake and shared with him that after Nibs gave them one to two litters, that I would like for her to come to live with our family. My travel odyssey consisted of four airlines and 10 ticket changes and three days of travel with no luggage; thank God most ticket changes took place while I was on my way to Canada without Nibs being present. Words can not express our heartfelt gratitude to all that have been involved with the locating and donation of this beautiful animal. For further information about the work of the Joshua Frase Foundation visit
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The Myotubular Trust was invited to attend the 164th ENMC Workshop on myotubular and centronuclear myopathies on 17 January, in Naarden, The Netherlands, in order to discuss progress on the development of a European patient registry. The last ENMC conference on CNM / MTM was in 2003 and the Myotubular Trust had been actively lobbying for another to be organised, as such events really do further current research by bringing together all interested scientists and institutions. The ENMC (European Neuromuscular Centre) is an international research support organisation for neuromuscular disorders, and strives to facilitate communication amongst scientists and clinicians working in the area of neuromuscular disease. The main route whereby ENMC facilitates communication and collaboration is via the funding and organisation of workshops with regard to a range of neuromuscular diseases. 18 participants from different countries convened for the 164th ENMC International workshop on myotubular / centronuclear Myopathies. Although to date changes in a number of different genes have been identified to cause myotubular / centronuclear myopathy, there is a substantial proportion of patients with the condition where the underlying cause remains currently unknown. The first aim of this workshop was to delineate and further clarify the features associated with forms of the disorder where the underlying gene defect is already known and to outline common features in forms of myotubular / centronuclear myopathy without known genetic defect, in order to identify patients for further study. The clinical part of the workshop was complemented by sessions on the biochemical effects of specific genetic changes and on animals suffering from similar conditions; those may present suitable models to further understanding of myotubular / centronuclear myopathy and to study potential treatments. Another session focused on the design and establishment of databases collecting information from patients suffering from myotubular / centronuclear myopathy, a prerequisite for collecting patient populations for future therapy trials and a beneficial tool for distributing information about these rare conditions to those affected by them and their treating clinicians. During the final session of the workshop potential therapeutic approaches to myotubular / centronuclear myopathy based on findings in an animal model of the condition were presented and discussed. Recommendations for a structured approach to the genetic diagnosis of the condition and on the establishment of a patient registry for myotubular / centronuclear myopathy were made and strategies to implement those were discussed. Lastly, plans for further collaborations and meetings were drafted. The second Myotubular Trust 20 Mile Thames Walk will be taking place in May. Last years walk was a huge success; over 60 walkers took part and raised an amazing £28,000. The event is being arranged by two of the Trust's supporters, Lizzie and Jo, who were in an antenatal group with Myotubular Trust Trustee, Anne Lennox, when she was expecting Tom and who arranged the walk last year with another supporter, Laura.
The walk will begin from the beautiful Hampton Court, back into London, along the Thames and will finish in glorious Battersea Park with a picnic.
There is a £15 registration fee - this will cover the cost of your Myotubular Trust t-shirt and water stations on the day and in order to register, the Trust do ask that you commit to raising some money in sponsorship, however, they do not set a minimum amount as they are grateful for any donations, however large or small. For further information about the Thames Walk
London 10k: Sunday 12th July 2009
Supporters of the Myotubular Trust will once again be running in the London 10k this year. Over 150 people have taken part over the past three years, with many of them having run more than once. The run is a huge event in the Myotubular Trust calendar, with sponsorship accounting for almost one third of the total funds raised to date. If you are interested in taking part, you can either:
e-Bay for Charity If you are having a spring clear out and have any unwanted clutter, it can now be sold on eBay to help raise funds for the Myotubular Trust. Selling items is easy 1. Once you are ready to sell your item, go to the Sell hub and select 'Advanced Sell'. 2. Complete your details, remembering to look out for the charity box just below where you set your price. Select the Myotubular Trust as your charity to support and the percentage (10%-100%) of your final selling price that you would like to donate. The minimum donation is £1 per listing. 3. A week after your item sells, MissionFish (eBay's charity partner) will automatically collect the donation from you. You can also manage your donations through the 'My Donations' section of My eBay, under the 'My Account tab'. Any fee credits will appear on your next invoice. Every time you list an item for the Myotubular Trust, you will get a fee credit on your basic insertion and final value fees equal to the percentage you donate, which means if you donate 50% of your selling price to a charity, eBay will waive 50% of your fees. You will also be given a fee credit on your basic insertion and final value fees equal to the percentage you donate every time you list an item for charity. Seen by everyoneeBay for Charity listings are the same as any other eBay listing, except for the blue and yellow eBay for Charity ribbon that appears in the search results, together with the Myotubular Trust's mission statement and logo, meaning your listing can be seen by everyone who searches through eBay.co.uk. It will also get extra visibility through the eBay for Charity pages. Don't forget Gift Aid If you are a UK taxpayer, using Gift Aid means that for every pound you give, the Myotubular Trust will receive an extra 28 pence from the government. Simply tick the Gift Aid box when you first list an item for charity. MissionFish will then collect the Gift Aid from the government and pass it on to your chosen charity. For further information, visit the ______________________________________________________________________________________ Back to Top
The conference is being arranged by several affected family members, as well as professionals in the field, who all share the desire to connect the MTM / CNM community face to face.
The cost per delegate will be $30 - the charge includes lectures and food. It is also planned to have childcare and children's activities and there will be a special concurrent conference for siblings. Note: In the US, costs incurred by attending the conference expenses are tax-deductible. US families attending this event may include expenses for admission and transportation to a medical conference relating to the chronic disease of themselves, their spouse, or their dependent (if the costs are primarily for and essential to the medical care). That is a 30% saving on conference. See the Internal Revenue website for further information. To register, visit the MTM Family Conference website.
My connections with the Family Conference started out this way: Quite a number of MTM and CNM families, including myself, have had an active part in the Yahoo Group for Myotubular Myopathy. I joined this group in 2002, and for years, we discussed how great it would be to all get together and meet, in person, one day.
We all talked about how awesome it was to meet one another, and how all the affected families should be able to experience this. From there, the idea took off. We quickly formed a Team and set steadily to work- starting with a survey and now going full steam ahead with implementing the Family Conference. This conference has been in the making for two years. A lot goes into putting together a conference like this, and we are now seeing the fruition of our hard work coming together nicely. God has provided so much for us, including many people to help out along the way. The Planning Team has evolved over the months; some members have come and gone but each had an integral impact on the shaping of the Family Conference. Everyone on the Planning Team has always worked hard at their task, giving 100% of themself to this project. Each Team member has sacrificed a lot in order to help put this conference together for all of the families. Currently, the Team consists of the following people: Connie Guinn, Sarah Foye, Shannon Mashinchi, Elizabeth DeChene, Diana Manny, John and Chrissie Sanders, Betsy Grant, Erin Ward, and Debbie Maughan. We are hopeful to have families from across the globe attend the Family Conference, with our main goal being to bridge the gap and connect us all into a close-knit community. It has been a blessing to me to meet all of these dear families and I look forward to meeting many more at the MTM / CNM Family Conference in Houston, Texas, this July. Hope to see you there! My name is Shannon Mashinchi and I have a MTM affected son, Javad who is 7 and a half years old. When Javad was diagnosed with myotubular myopathy at two years old, I felt a bit lost and alone. I connected with a few families online and in April 2007, had the opportunity to attend the Joshua Frase Foundation Dream Team Gala in Boston, MA. Connie Guinn, another MTM mom who had become my best friend and rock, also attended the Gala and we 'met' for the first time (in person). Meeting someone after talking to them for many years was a powerful experience. It was like coming home. We shared stories and pictures and solidified a friendship that was already very solid. Meeting Connie, and other families at the Gala, impacted me in a profound way: there were other people who had very similar experiences as I have had, who understood me. This connection has continued. I talk with many MTM families every day by email and Facebook. I have also met many more of my dear friends 'in person'. I currently serve on the MTM-CNM Family Conference Planning Committee to make the first US Family Conference a reality. In July 2009, many MTM / CNM Families will gather together in Houston, Texas and share stories and experiences. The opportunity to meet and spend time with other MTM / CNM families is invaluable. Our growing community is supportive and powerful. My daughter, Stesha, has also felt the power of the bond of meeting other MTM / CNM families. After joining me in Boston in April 2008, she took on the challenge of creating and spearheading the first ever MTM-CNM Sibling Conference, which will run concurrent to the MTM-CNM Family Conference in July. We both feel strongly that all members of our community need to find connection and support. The Sibling Conference will bring that same opportunity to all siblings of affected children.
Contact Information: Shannon Mashinchi ~
Stesha Heselius-Mashinchi My son, Adam, has suspected autosomal recessive centronuclear myopathy. Adam is doing great and has passed the wonderful milestone of turning 8 this year. His scoliosis is stable with the use of his brace and he has been using his nighttime ventilator. He is a very happy child who loves art, drawing, playing with his 'best friend in the universe', George, and playing Nintendo DS. Adam's new hobby is making his own video games / animation. You can check out these hilarious creations at his Littlelad website. We recently made a few YouTube videos about Adam. These can be found by searching under pinksarah21 or myopathy21. Most recently I made one about how I modify Adam's non-invasive ventilation mask to fit a small child. I am serving on the planning committee for the CNM Family Conference 2009 because I understand how empowering families can be for each other. In 2006, I was able for the first time to meet some other affected children and their parents, as well as some parents who had lost their children, at the JFF event in Boston. I was moved to tears, standing amidst this sea of people who were all dedicated to making a difference in this disease. It motivated my family: We have been called to action to start a campaign to make a worldwide difference in Centronuclear Myopathy which aims to support research to discover a treatment and to forward identifying genetic abnormalities for all forms of CNM, educate families and health care professionals about CNM and about what supports are available for them, collaborate with other organizations to move forward genetic diagnosis and clinical management and support for people with CNM, raising awareness and fund raising.
We have been fortunate to have met some other families with children with MTM over the years. We are especially grateful that we've had a chance to find a new level of connection through the growing of number of families joining Facebook and supporting each other on a daily basis. As I learned of the level of work going into the conference planning for this summer, I was in awe of what was being done. I felt compelled to join the team and offer any assistance that I could. I bring with me my experience over the last few years working as a family coordinator at Children's Hospital Boston in a variety of roles and through my work as a founding member of a non-profit Massachusetts-based family organization called TrachCare, Inc. I am thrilled to be a part of such an incredible team of parents that are working to create an amazing opportunity for families of MTM-CNM to come together to build our community, share information and knowledge and work together in hope for the future of our loved ones.  Erin Ward is calling for photos and stories of members of our MTM / CNM community that have passed away. Erin says 'we would like to ask any family that has lost a loved one to MTM / CNM to send us a photo and / or a story of your family member who has passed away. These photos and stories will be a part of our Memorial Board that will be in a place of honor at the conference. We want to remember all those who have passed away from this disease and celebrate their memory when we gather together for this first MTM / CNM Family Conference'. If you would like for someone to be honoured at the conference, send your photos and stories to Erin Ward.
Bracelets are now available from the MTM Family Conference organisers, to raise awareness CNM / MTM and also raise funds for the conference. They are selling like hot cakes and have been requested from as far a field as the USA, UK, Australia and Norway. To get your bracelet, visit the MTM Family Conference website.
Positive Exposure was founded in 1997 by the former fashion photographer Rick Guidotti to challenge the stigma associated with difference by celebrating the beauty and richness of human diversity, working with individuals living with genetic difference. The work of the organisation aims to support and promote human dignity through Positive Exposure's Spirit of Difference photographic image data bank and video interviews of persons, particularly children, living with genetic conditions.
Every year Positive Exposure travels to annual genetic support group conferences. Each conference is an opportunity for affected persons and their families to connect, learn, and celebrate their community's unique beauty. Some children are photographed growing up from year to year, while others experience their first professional photo shoot. A recurring theme voiced by many individuals / families and organisations is the need to help physicians, particularly medical students and trainees, learn how to best meet the concerns of individuals / families with, or at risk from, genetic disorders. Positive Exposure believes that each individual living with a genetic difference desires to be viewed first and foremost as a human being with his or her own special needs rather than as a specific diagnosis or disease and that currently available medical images illustrating genetic difference are particularly dehumanizing and dispiriting. ______________________________________________________________________________________ Back to Top The Ward Family Visits Dr. Alan Beggs' Lab at Children's Hospital Boston
In the midst of trying to gather information and learn everything we could, we had an opportunity to experience 'being at the right place at the right time'. William was in the NICU at Children's Hospital Boston, Massachusetts and following the diagnosis, within a few days we had a chance to meet Dr. Alan Beggs. He came to William's bedside and shared vital information and resources on this rare disease. We learned that in 2001 Dr. Beggs was one of the only researchers in the world specifically looking at MTM. We will always remember not only the information he relayed to us about the disease, research, and resources such as the Joshua Frase Foundation, but the gracious way he welcomed William into the MTM community and gave us a glimpse of hope through his commitment to this research. We recently celebrated William's birthday by visiting his lab at Children's Hospital Boston. We are very excited about the excellent progress they are making in the research of MTM and related neuromuscular diseases. We cannot thank Dr. Beggs and his entire lab enough for all of their hard work in fighting this disease. William is now eight years old, and while we celebrate every day with him just as he is, we also hold on to the hope that in his lifetime there will be a cure.
If you would like to join us in our walk efforts please join 'William's Team' on Facebook in order to receive the most updated information about how to join the team or make a donation to this worthy cause. Mark, Erin and William Ward ______________________________________________________________________________________ Back to Top From 1st March 2009 until 28 February 2010, Tesco staff will be fundraising for the Muscular Dystrophy Campaign with every penny raised by them topped by a further 20% by the Tesco Charity Trust. Donations will also be received through a series of unique products sold in stores nationwide. Britain's biggest retailer is partnering with the Muscular Dystrophy Campaign with the aim of raising £3 million for the Giving children equipment to be independent campaign. Tesco staff and customers in over 2,000 stores and depots across the UK will be holding fundraising events throughout the year which will provide hundreds of children with vital specialist equipment such as powered wheelchairs, electric beds and portable hoists, allowing them to lead happier, more independent lives. Get involved
Further initiatives will be announced throughout the year - for more information and updates visit the
The Muscular Dystrophy Campaign Research Team has launched a new initiative to encourage the involvement of families and supporters in their research programme. Involvement of non-scientific people in research is now a widely accepted and implemented aim of science policy in the UK and the call for Research Ambassadors is a response to a growing demand to establish a suitable model for use by the Muscular Dystrophy Campaign. The Research Team already keeps families up to date with the advances in research by regularly publishing features and articles in Target MD magazine and by providing an information service but are now looking to harness the experience and skills of their supporters, to ensure that what they provide is what people are looking for and that it is written in a language that is easily understood. During 2008 a research circle was established that involves supporters who are keen to have a say in how research is communicated. The first meeting took place in October 2008 at the Muscular Dystrophy Campaign head office and throughout the coming years, it is hoped to extend the group, to include representatives for most of the conditions that the charity cover. If you are interested in becoming involved in research communication or becoming an ambassador for your peers, please get in touch with the research team by calling 020 7803 4813 or by email at research@muscular-dystrophy.org. A recent study published by Professor Campbell and colleagues at the University of Iowa has shown that a faulty chemical pathway within muscles could be responsible for the prolonged muscle fatigue that people with neuromuscular conditions experience after mild exercise. The study indicated that in mouse models, a chemical substance called neuronal nitric oxide synthase (nNOS) causes, at least in part, the fatigue experienced by people with neuromuscular conditions after exercise. The findings of this research could open up a new opportunity to treat excessive fatigue associated with mild exercise in many neuromuscular conditions. Read more about the findings on the Muscular Dystrophy Campaign website. Support for People with Muscle Disease from the Muscular Dystrophy Campaign Centronuclear / myotubular myopathy is classified as a congenital myopathy, a group of conditions which cause structural changes in the muscles and is one of many muscle conditions for which support is provided by the Muscular Dystrophy Campaign. Whether you have a child or other family member with muscle disease or you are an adult with the condition, the Muscular Dystrophy Campaign is available to provide all the latest information you need about support services, research developments and campaign updates. The charity wants to make sure that everyone who has need of their free information and advice knows about their services, say an information day or family weekend in your area and to be able to send you updates if there is a development in clinical trials, general research news, or any changes to Government legislation or service provision. In order to be able to pass on this information to you in a timely fashion, the charity are asking people to register and ensure their details are kept up to date. To do this, visit the Muscular Dystrophy Campaign website or telephone 020 7803 480. They charity also want to encourage anyone with a neuromuscular condition to carry a medical alert card to ensure they receive the correct treatment in an emergency. Cards are available free of charge from the Muscular Dystrophy Campaign. ______________________________________________________________________________________ Back to Top Contact a Family would like to hear from people interested in taking part in their podcast
series on what it is like for families affected by rare disorders. For more information, contact Sasha Henriques, Information Officer (Rare Disorders), Tel: 020 7608 8714. Parent Participation For further information on what's happening in your local area or to find out more about the next phase of grants available to groups, contact the Together for Disabled Children administrator on 020 7608 8783 or visit the Together for Disabled Children website.
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The Family Fund is a national charity which gives grants to families
with disabled children. They have recently increased the age limit of
children they can help in England to include 17 year olds, providing
the application is received before the young person's 18th birthday.
This brings it in line with the eligibility criteria for Wales.
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Visit the NHS Choices website.
NHS Complaints System For further information, visit the Parliamentary and Health Service Ombudsman website. ______________________________________________________________________________________ Back to Top The Other Kid by Lorraine Donlon is a guidebook for kids dealing with a special needs siblings. The book uses simple words to explain how and why some children are born with disabilities, so requiring extra care and attention and aims to encourage children to think and talk about their feelings as a way of making them feel good themselves and to affirm difficult feelings such as guilt, jealously, sadness or feeling lonely. The book also encourages children to think about these feelings and suggests solutions by inviting them to draw and write about their feelings on the page next to a particular topic. The draw it out format aims to allow children to personalise the book to their situation, making the 'other' kid feel as special and deserving of love and attention as their disabled sibling appears to be. ______________________________________________________________________________________ Back to Top
This book by Micheline Mason, looks at the relationship between disabled children and their parents. Over 20 disabled adults speak about both the support their parents were able to give them when they were young and also the places where their parents were confused or misled by others into actions which, on reflection, they believe to have been unhelpful, or even harmful. Micheline Mason is both the parent of a disabled child and disabled herself and says, 'I have tried to communicate some of the many things I have learned as a disabled child now 'grown up', as a parent myself, and as a supporter of many families who have been struggling to help their children to have a good, inclusive life'. Read more about Micheline Mason
______________________________________________________________________________________ Back to Top Remember Don't throw away your toner cartridges and mobile phones - every year more than two million printer cartridges and 15 million mobile phones are disposed of in landfill sites in the UK. You can stop this waste by joining a recycling programme and in turn raise money to help people with neuromuscular disorders. • One cartridge can be worth up to £6 and could help provide vital information to a newly diagnosed family. To learn more, email the Muscular Dystrophy Campaign or Telephone: 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 ~ ~ Feedback Form ~ Spring Themed and Let Us Remember Images from
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Under the direction of Mike Lawlor, Pankaj Agrawal, and Behzad Moghadaszadeh, the
Beggs Lab is developing and studying mouse models of the congenital myopathies,
including models of centronuclear myopathy.
My beautiful son William has X-Linked myotubular myopathy and is now eight years old and thriving. He faces each day with incredible resilience and with an array of health interventions he lives a very full life. He is the joy of our lives!
