Volunteers Needed for Global Dystonia Registry

The DMRF is proud to be a part of a two-year effort to develop and implement the first-ever patient registry devoted to focal dystonias. The registry is designed to collect data on persons affected with a focal dystonia(s) to assist in clinical research efforts including clinical and research trials.

This collaboration is between dystonia patient organizations and the research leaders of the Dystonia Coalition to develop and offer this self-reporting patient registry to the dystonia community. “The registry is a fantastic new opportunity for the dystonia community worldwide. It is going to be extremely valuable for fostering better communication between people who are affected by dystonia and researchers who are trying to learn more about dystonia,” said Dr. H. Jinnah, the principal investigator for the Dystonia Coalition. The goal of the registry is to support future dystonia studies through the collection of data on persons affected by dystonia.

Although the focal dystonias have many different manifestations, most experts believe they share a common pathogenesis or mechanism that causes the disorder. The common causes may be a similar gene defect, similar lifetime experiences, or both. Collecting information from different patient populations may help us identify the common features that they may share. This Registry compliments the current scope of research for the Dystonia Coalition, a National Institutes of Health supported clinical research effort.

To learn more or to register with the Global Dystonia Registry go to: http://www.globaldystoniaregistry.org/

Giving Thanks

During this season of thanks, I want to take this opportunity to thank all of you who have supported the DMRF and those we serve. Your efforts are deeply appreciated and allow us to carry out the organization’s mission. We could not do what we do without you.

We are grateful to our researchers and Medical & Scientific Advisors for the work they do to get us to that magic day when the DMRF is no longer needed because a cure has been found.

We are thankful to our clinicians who work so hard to help alleviate the pain and suffering dystonia brings everyone touched by this disorder.

We appreciate the tireless efforts of our support group leaders who work to meet the needs in their communities while providing a helpful hand to those managing every day with dystonia.

We want to thank the growing number of advocates who are working to have the legislative needs of this community addressed by our Federal and State Legislators.

We are grateful to those who have shared their dystonia story so that others can better understand what dystonia is and how it changes lives.

To anyone who has listened to someone having a rough day and offered encouragement or to those who were in a position to give a hug to let someone know they are not in this alone, we are thankful for your kindness and warmth.

We appreciate our donors who have placed their trust in the DMRF and who have allowed us to do the work we do. We value the pharma companies who work to produce therapies that, together with a treating physician, are bringing relief to many.

Finally, we appreciate our dystonia partners, the other Dystonia Advocacy Network Members – BEBRF, DySTonia, Inc., NSDA, and NSTA, Tyler’s Hope, our European partners – groups that the DMRF has worked with to advance our understanding of dystonia while working to meet the needs of those affected by dystonia.

This Thanksgiving we will be thinking about everyone who has worked to make a difference in the life of someone touched by dystonia. Thank you.

5th International Dystonia Symposium

The 5th International Dystonia Symposium came to an end in the early evening on Saturday, October 22nd. A theme throughout the three day meeting was overhearing someone say, “This is the best dystonia meeting I have ever attended.” Kudos to the Scientific and Program Committee members – Alberto Albanese, Mahlon DeLong, Wendy Galpern, Mark Hallett, Buz Jinnah, Ryuji Kaji, Christine Klein, Tony Lang, Jan Teller, Marie Vidailhet and Tom Warner – who worked so hard in putting together this fabulous program. 560 people attended the symposium and were able to experience the energy that can be felt in this field. The discussions and ideas generated during the meeting are exciting. DMRF members should be proud of the numerous researchers who cited the support of the DMRF for the work they presented. A summary of the meeting will be issued shortly but you all should know that this was a resounding success and everyone left really motivated to keep the progress continuing!

School is in Session

The school year is well into full-swing across the country. Schedules fill quickly each week with homework assignments, after school clubs, and last-minute revelations from your child that he needs 50 homemade brownies and a made-to-scale diorama of Mount Rushmore for school the next day. Parents of children with dystonia have added challenges and decisions to make about how to ensure their students have the best year possible, let alone how to get through the week. It takes added vigilance to make sure a child with physical challenges is being served appropriately by the education system.

The DMRF is proud to partner with long-time member and special education expert Roberta Senzel, Esq. and offer a new blog entitled "Dystonia & Special Education" at http://dmrfspecialed.blogspot.com/ The purpose of the blog is to help parents of dystonia-affected children navigate the education system and have access to practical, essential information. Roberta is not only a special education attorney and university school law instructor, she is also the mother of a grown child with dystonia. Roberta knows what it is like when dystonia invades a family, and she also knows what it takes to help affected children succeed and thrive in school. Roberta is a frequent speaker at DMRF events—including the bi-annual Children & Family Symposium—and an active member of the Greater Washington, DC Dystonia Support Group.

Roberta will be blogging regularly on the federal education laws every parent should understand, tips for working with educators, transition after high school, and many other topics. You are welcome to submit questions and topics you would like to see Roberta address at dystoniaschool@dystonia-foundation.org

Many thanks to Roberta for sharing her insights and expertise, and for providing this excellent resource for the dystonia community. There are few greater gifts in this world than a talented, compassionate teacher and Roberta is just that!

Seek Credible Sources for Information on Movement Disorders

We all know you can’t always rely on information you find on the internet to be accurate, and this includes descriptions of dystonia and other movement disorders. To those of us who live with dystonia every day and who know the importance of promoting awareness, few things are more frustrating than a media story or online blog that disseminates incorrect information about this already frequently misunderstood disorder.

The DMRF applauds a recent letter to the editor in the New England Journal of Medicine that addresses this matter. Physicians are reporting that a growing number of individuals with movement disorders are coming to them with inaccurate portrayals of these disorders from the internet, especially from the video sharing website YouTube. These videos are causing many people undue concern by providing inaccurate depictions of movement disorders (including dystonia) and suggesting treatments and cures not backed by trustworthy sources.

The DMRF echoes the New England Journal of Medicine in reminding those of us with dystonia to seek out credible sources for medical information. We encourage you to verify the sources of information about treatment options and only rely on those backed by solid scientific study and endorsed by a qualified physician trained in movement disorders.

The DMRF will continue to take very seriously our efforts to provide our community with accurate, timely information about dystonia and the latest news in treatments and research—an effort we have undertaken for 35 years. The DMRF is privileged to work closely with the world’s top thought leaders in movement disorders to make sure the information we provide you is sound.

It’s unfortunate that there are people in the world who take advantage of a platform like YouTube, which can do so much good, and use it in a manner that is harmful. This does not in any way diminish the tireless work of our friends in the dystonia community who are promoting awareness—including through social media websites like YouTube and Facebook—and helping the un- and misdiagnosed access the information and resources they need. Now more than ever, we need to make sure individuals impacted with dystonia know where to go for good information.

Art Kessler
President

Dystonia Makes It Into the Smithsonian

One of the messages the DMRF tries to convey to our members is that your story matters. Your story is important. The courageous act of sharing what it’s like to live with dystonia—on whatever level you are comfortable—can inspire others and change lives.

Because Esther Goodhart was generous enough to share her story, she has brought her experience with dystonia to an exhibit at the Smithsonian’s National Portrait Gallery. A gala on September 16, 2011 will celebrate the launch of the exhibit, entitled "Portraiture Now: Asian American Portraits of Encounter." A portrait of Esther joins scores of others in this special exploration of what it means to be Asian in America.

Many congratulations to Esther for this prestigious achievement! She reminds us all to take pride in who we are and where we come from. By examining those qualities we perceive as differences—in terms of gender, race, ethnicity, (dis)ability—we may ultimately realize more clearly how much we are in fact alike. When you share your story, you inspire others to give voice to their own. You help others understand an experience they do not know firsthand. And your story may suddenly become more powerful than you ever imagined it could be.

A Feeling of Community

Like you might expect, when I was finally diagnosed with dystonia after struggling with it for a number of years I rushed home and went online to learn more. I wanted to educate myself about the disorder that had taken so much away from me. I had hopes of finding some magic bullet that might make it go away and make me a "normal" person once again. What I found after just one click of the search engine was the DMRF! It instantly became clear to me that I wasn't alone in searching for a cure and that there were decades of outstanding efforts already invested by the DMRF and the families and individuals who founded and continue to serve the organization. My dystonia was a personal struggle that had been very lonely for me up until that point. That feeling of loneliness has been transformed into a feeling of community - a community driven to support each other while pushing forward through the seemingly impossible science needed to understand the miracle of the human brain.

Never would I have thought that neurology would become as big a part of my daily consciousness as it is today. Some people know of my son and his courageous battle with epilepsy. I can't go more than a few minutes in any day without feeling an immense urgency for the advancement of neuroscience. And never would I have thought while sitting at my computer during my first visit to the DMRF website that I would one day be nominated to the board of directors. It is profoundly humbling to be surrounded by people whose dedication and hard work have put the DMRF at the forefront of the quest for a cure. I'm honored to be joining the board as the DMRF leads important initiatives that will lead to a globalization of our community and the sharing of research currently going on all across the world. Joining the DMRF board of directors inspires me to raise my own expectations for how I can contribute towards finding a cure, how I can better support the raising of awareness of dystonia worldwide and most importantly how I can be an asset to any and all individuals who struggle with the challenges dystonia poses for their own sense of wholeness and self-worth. Together we make greater progress towards our future goal - a world without dystonia.

Billy McLaughlin
DMRF, ex-officio board member

Nothing can stop us!

This past weekend 200 people traveled to Chicago to participate in the DMRF’s John H. Menkes Children & Family Symposium. Traveling when you are affected by dystonia is challenging yet these people and their families did and the result was a fabulous gathering of learning, support and wonderful memories. The program was expanded to include adults with focal dystonias – cervical dystonia; focal hand dystonia; dopa-responsive-dystonia; laryngeal dystonia or spasmodic dysphonia and then kids with generalized dystonia; DYT1 dystonia and myoclonic-dystonia. It didn’t matter what form you had – the emphasis was on meeting one another and learning that no one with dystonia needs to battle alone. We had world-class speakers providing information and many new friendships were formed. The DMRF is proud to serve this community and we are ready and willing to assist anyone who needs help – after this weekend we have new volunteers who are also willing to support those who need are facing each day with dystonia.

Thank you to all who made the effort to join us – to all of our wonderful speakers and to our fabulous volunteers. Together – there is nothing that can stop us!

Another piece of the puzzle

The DMRF is committed to advancing research and achieving our mission of identifying new and more effective treatments and ultimately a cure for all forms of dystonia. The Foundation has proudly supported most of the world’s leading dystonia researchers resulting in discovery of pieces of the dystonia puzzle. This past week, our understanding was again advanced with the publication of a study that was supported by the DMRF and the National Institute of Neurological Disorders & Stroke.

DMRF grant recipient Flavia Nery, PhD and longtime dystonia investigator Xandra Breakefield, PhD of Harvard’s Massachusetts General Hospital, and their collaborators have discovered a significant clue toward understanding why a mutation in the DYT1 gene might lead to dystonia. According to the paper published in the prestigious online journal, Nature Communications, torsinA is involved in eliminating misfolded proteins from a part of the cell called the endoplasmic reticulum. When mutant torsinA, which causes DYT1 dystonia, is present, it interferes with this process, making cells unusually vulnerable to cellular stress that may compromise neuronal function. This work demonstrates a cellular link between the disease-causing torsinA mutation and fundamental mechanisms of neuronal dysfunction that may ultimately lead to dystonia.

DMRF Science Officer Jan Teller, MA, PhD explains, “Essentially, all dystonia disorders are considered a neural circuits malfunction. Therefore finding any molecular or biochemical way to put these circuits back ‘in order’ would be beneficial to all dystonias. Understanding how this works in DYT1 dystonia may suddenly open up new possibilities for designing dystonia-specific treatments.” Current dystonia therapies such as botulinum neurotoxin injections and deep brain stimulation surgery suppress symptoms without altering or improving the course of the disease. A new generation of therapies that target dystonia at the cellular level would be revolutionary to the field and could provide relief to thousands of patients.

Dystonia Advocacy Day and beyond

The fight to make sure dystonia we leave no stone unturned in securing support for dystonia research continues. Last month over 120 advocates went to Washington, DC to ask Members of Congress to support our request to have dystonia continue to be on the list of conditions eligible to have our researchers apply for funding through the Congressionally Directed Medical Research Program managed by the Department of Defense. Last week, Dee Linde – a DMRF and BEBRF volunteer provided testimony before the Senate Defense Appropriations Subcommittee to ask for their support. Dee, a former Navy petty officer, provided dystonia information to the Subcommittee members – appealing to them to help us learn more about dystonia so that we might be able to reduce or even eliminate the suffering of returning military personnel who, because of a traumatic brain injury, might be at risk for developing dystonia. The work of the Dystonia Advocacy Network members continues well beyond Advocacy Day and this is just one example of these efforts. Many thanks to Dee for sharing her personal story with the Senators present and to everyone who is working to keep the pressure on!

Dystonia Awareness Week Reflections

Increasing awareness of dystonia is an ongoing challenge but with the continued efforts of this community – we will help people truly understand what dystonia is and how it changes lives. We’ve just completed Dystonia Awareness Week and we want to thank the many people who made a special effort these past seven days to tell their stories – to reach out and talk about dystonia. We are grateful to those of you who ‘tweated’ during dystonia twitter day on Tuesday of this past week, to those of you who have shared your stories by becoming a part of the Faces of Dystonia program, and to those of you who shared your story through the media – it all makes a difference! Whether you are telling of your experiences through a national outlet or while standing in line at the grocery store – you are giving selflessly so that others will learn about dystonia. Every effort counts. Congratulations on your good efforts. Let’s keep it up!

35 Years of Dedication

At the Foundation’s annual meeting last month, we recognized 35 years of dedication to achieving our goal of a cure for dystonia, 35 years of stimulating research, promoting awareness and providing support for dystonia-affected persons and their families. The meeting was productive and we look forward to announcing the grants we will be funding this year and to providing a report on the progress we have made over these past three decades toward achieving our goal.

Throughout the meeting I was struck with the dedication of every person there. The members of our Medical and Scientific Advisory Council, people who are incredibly busy, but who gave us their time to thoughtfully review and discuss the merits of the grant and fellowship applications. There were our recently funded investigators who presented on their research and then engaged in discussions regarding where best to direct research to advance our knowledge. The Foundation’s Board Members – people who work tirelessly to provide financial support and guidance so the DMRF can be there for those who turn to us for information, support and help. We were fortunate to have a number of guests, people who have made significant contributions to the field by reviewing grants through the Department of Defense Peer-Reviewed Medical Research Program or who have worked hard to create dystonia awareness and lead support groups. We were pleased to welcome Fiona Ross, the Chairman of the Board for the Dystonia Society in the UK – reflective of the communities desire to work collaboratively if we are to be successful in battling dystonia.

Many of these people have been there from the very beginning – and they reiterated that they are not going anywhere until we reach our goal of a cure. The anniversary provided the DMRF with the opportunity to acknowledge the extraordinary people who have been with us on this journey. People who have worked selflessly to help us end dystonia. We recognized these amazing individuals with the DMRF Distinguished Service Award.

It is my honor to announce that the DMRF Distinguished Service Award was given to the following people:

Stanley Fahn, MD - Mark Hallett, MD
Mahlon DeLong, MD - Xandra Breakefield, PhD
Laurie Ozelius, PhD - Susan Bressman, MD
Samuel Belzberg - Frances Belzberg
Dennis Kessler - Rosalie Lewis
Joseph Jankovic, MD - Claire Centrella

We thank each of these wonderfully dedicated people for their commitment to the DMRF and the dystonia community. The DMRF continues its work. Our commitment to the community remains steadfast. The DMRF is not going anywhere until we achieve our mission.

Good News

It seems hard to believe that we are already in the middle of January. The holidays are nothing but a faint memory now – hope your season was a good one. I want to thank everyone for their hard work and support last year. We could not do what we do without you and your efforts have helped us off to a great start in this New Year.

The first good bit of news is that two dystonia researchers have been funded through the Department of Defense Peer-Reviewed Medical Research Program. Cris Bragg, PhD (pictured) and Kathleen Sweadner, PhD will receive funding for their work through this program. We offer our congratulations to them and to the many Dystonia Advocacy Network volunteers who have worked so hard over the past many years to get dystonia included on the list of eligible disorders so that our researchers could apply for this funding. We are also able to begin the year with gratitude to the Centers for Medicare and Medicaid Services for issuing a temporary billing code for the recently approved botulinum toxin, type A, Xeomin®. This means that dystonia-affected persons will have access to all FDA approved treatments because now doctors who might have been reluctant to use this new treatment because of potential billing hassles will have those hassles removed. We want to thank the CMS staff for their receptivity to hearing the patient’s perspective on this issue and again thank the DAN volunteers who made visits to Members of Congress in August and who went to CMS to provide personal testimony. The collaboration of the DAN organizations is to be celebrated as we are moving forward to meet the needs of those affected by dystonia.