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.

A Year of Progress

A year of progress, 2010 has taken us important steps closer toward the Foundation’s mission of supporting research that will lead to a cure, education and dystonia awareness, and those individuals affected by dystonia and their families. The DMRF is proud of the work we have done these past 12 months, and we thank our many volunteers, advocates, donors and our local and national leaders. We have achieved all we have in 2010 because of the support of these remarkable people.

This year, we continued our commitment to funding of cutting edge-research and fellowships and approved 15 research projects. The Foundation’s Science Officer worked with another 5 investigators to develop contracts that will help us fill in some of the missing pieces of this big dystonia puzzle. The DMRF is pleased to partner with the Foundation for Dystonia Research to support a better understanding of dystonia. The DMRF is also pleased to partner with Tyler’s Hope for a Dystonia Cure in supporting phase II of the BioFocus project, an important scientific research project that is designed to identify and validate potential targets, that will hopefully lead to drug development for DYT1 dystonia. Our work in serving as an administrative center for the Dystonia Coalition, an NIH sponsored clinical research project, continues.

The DMRF has been honored to work with the Dystonia Advocacy Network (DAN) for the past five years. Joining with members of the Benign Essential Blepharospasm Research Foundation, the National Spasmodic Dysphonia Association, the National Spasmodic Torticollis Association and DySTonia, Inc., we have worked to make sure the legislative and policy needs of the dystonia community are heard in Washington, D.C. This past year, DMRF President, Art Kessler, provided testimony to the FDA and longtime DMRF leader, Kathy Rentfrow, provided testimony before the Senate Defense Appropriations Subcommittee regarding dystonia research funding. The DAN has worked to ensure that all patients have access to all approved treatments for dystonia and just last week met with key individuals at the Centers for Medicare Services regarding this issue.

We welcomed new support groups to our network of local resources working tirelessly to make sure people know they are not alone in this battle. Our regional meetings helped to provide education and connect people with one another.

Our commitment to our mission remains resolute, and we look forward to continuing our progress into 2011.

But we always remember that we can’t do it without you. Thank you for all you have done this past year. I wish you and your families all the best in the New Year ahead.

Remembering Charles H. Markham, MD

It is with a deep sadness that I report the sudden death of Charles H. Markham, MD. Dr. Markham died in his home in Santa Barbara, CA last month.

Dr. Markham was an extraordinary man. He grew up in Southern California and served in the army during WWII, stationed in France, Belgium and Germany. During his service, he befriended a neurophsychiatrist who had Parkinson’s Disease and who was influential in Dr. Markham’s decision to become a physician.

Dr. Markham’s contributions to the DMRF and the dystonia community will be long felt. While at UCLA, Dr. Markham investigated the structure and function of the basal ganglia while evaluating treatments for Parkinson’s Disease, dystonia, and epilespsy. He was also committed to assisting patients in receiving the best treatments possible. Dr. Markham served as the DMRF’s Scientific Director from 1985 to 1994 helping to shape and develop both the DMRF’s research program and the Foundation during an important time. Since his retirement from this position, Dr. Markham continued to participate in scientific discussions – providing important guidance and counsel. He was instrumental in developing and implementing the brain tissue donation program. We send our condolences to Dr. Markham’s family and his many, many friends. He will be missed.

During this time of reflection and thanks, we here at the DMRF are thankful to have had the benefit of scientific leaders as Dr. Markham and so many others. Their commitment to this community is inspiring.

Why not?

For nearly 35 years, the DMRF has been asking questions of our researchers, pushing them for scientific answers and always moving forward with a “can-do” attitude. At first, it was an uphill battle – trying to convince researchers that this was a field worthy of their time and energy. Recently, we have seen more activity and enthusiasm around dystonia research, more information and more progress. This is all to be celebrated by everyone in the dystonia community! We want you to know that the DMRF continues to push – asking ourselves, “Why not?” Why shouldn’t we take what we now know and push the science further to see what we learn? This is why the Foundation is taking the next step with a major project that we hope will lead to identifying proteins that modify the DYT1 dystonia phenotype. The concept is to use a genetic approach based on silencing selected genes and monitoring the effect of such silencing on torsinA function. This is a high-risk project, but the Foundation feels strongly that it needs to be done as it may possibly lead to potential drug targets and, eventually, to new treatments. Our Science Officer, Dr. Jan Teller, will manage this pioneering new project. This phase of the project began this week, and will continue through the Spring of 2011. We are very excited about this work. Look for a formal announcement in the next week, but we wanted to let you know early about this one way in which the spirit that founded DMRF – pushing for action and answers -- continues today.

Dystonia Education

Now that the summer is unofficially over, learning is happening anew as students return to schools across the country. Education is also on our minds as we finalize plans for several major educational efforts scheduled for this fall. We know that staying abreast of current developments in dystonia is critical to successfully managing this disorder. It is also important to be able to share these educational experiences with others who can truly understand dystonia – folks who are affected by dystonia either directly or through a loved one. The French poet and author, Anatole France said, “Nine tenths of education is encouragement.” We couldn’t agree more!

The Foundation has been a longtime supporter of educational opportunities – because it is important to hear from the leading medical experts but also because it is so important to connect with others – to receive and give encouragement. The DMRF will host a Western regional meeting on October 1 & 2 in Pasadena, CA and a Mid-Atlantic Meeting on November 14th in Silver Spring, MD. These meetings are designed to give you accurate, updated information but as importantly – provide you with a forum to make or renew friendships – to encourage and be encouraged.

If you can, please join us for these opportunities.