Join Us for Dystonia Advocacy Day

It may feel in some areas of the country that spring will never come this year.  So many are dealing with mounds of snow and cold temperatures – it’s hard to be able to overlook all of that and think about any spring activity.  We hope you will be able to look beyond all that snow and look to an exciting spring program: consider joining with other dystonia advocates to educate Members of Congress about dystonia and ask them to help us meet the needs of this community.

Dystonia Advocacy Day is just one of the many things we do with our advocacy program every year.  It happens every spring in Washington, DC. Because of the many tireless advocates that have participated in years past—and the added efforts of dedicated advocates throughout the year—the dystonia community has had researchers funded through the Department of Defense Peer Review Medical Research Program, allowed for easier access to all FDA approved treatments for dystonia, and joined with other organizations in calling for increased funding for the National Institutes of Health and for appropriate reimbursement for physicians.

The dates this year are April 30 - May 1st.  We will do an orientation for new advocates on April 30 and give you an overview of what to expect. Then there is a briefing for all advocates later that afternoon.  The day is topped off with a dinner—giving you a chance to meet with other advocates.  People are put into teams so no one has to go into a meeting alone.  All advocates are sent materials in advance,  and we prepare packets filled with specific information on what we are asked Members of Congress to support.  You don't have to worry about becoming a legislative expert –it’s your story that makes the difference and makes dystonia real for legislators and their staff.

If you are interested, please consider joining us.  Once we receive your registration, you will get an email confirming that you are registered.  We will ask you what hotel nights you need, if you have dietary restrictions, etc.  We will make your hotel reservations and send you your hotel confirmation number.  You will be sent materials in advance of arriving in Washington, DC to review so you will be prepared for the orientation and briefing.

We hope you will be able to participate this year.  It is such an important activity.  Click here to register for Dystonia Advocacy Day.

If you have questions, please contact the office at dystonia@dystonia-foundation.org or 312-755-0198.

Dipraglurant Shows Promise for PDD

We congratulate Addex, Dr. Ellen Hess, and BSDPF on their exciting recent news about the potential of dipraglurant for individuals with paroxysmal dystonia and dyskinesias (PDD).

The promise this holds for those who are impacted by this rare dystonia is to be celebrated by everyone in the dystonia community.  What we can learn from this recent good news may hold promise for continued progress in developing other treatments for other forms of dystonia.

Congratulations and thank you to all who have been working on this over the past several years. Working together is the only way we will conquer dystonia.

Advocacy Works!

The DMRF has long felt that advocacy is important as a means to secure funding for critical dystonia research efforts. For over 20 years the DMRF has had a formal advocacy program to make sure that dystonia is on the radar for research support. There have been a number of exciting research breakthroughs in the past year: some having received early funding from the DMRF but most having received critical funding from the National Institutes of Health. Advocacy is an important program for dystonia--not just the DMRF-- but for the entire community. Through the Dystonia Advocacy Network (DAN) we come together to work on behalf of those affected by all forms of dystonia to make sure that our legislators are aware of what dystonia is and how they can help and together we push for more important funding for dystonia research. The DMRF is a proud member of the DAN and this collaborative effort.

The DAN has worked so hard these past few years to make sure that dystonia is included on the Department of Defense’s Peer Reviewed Medical Research Program.  Congratulations and many thanks to the DAN advocates who worked this past year on this important program. We’ve learned that the program is funding Nutan Sharma, MD, PhD for her work, “Dopamine Dysfunction in DYT1 Dystonia.” We are grateful to Jenelle Dorner and Peter Cohen for their service as consumer reviewers for the grant reviews this year.

This is another example that dystonia advocacy is effective—advocacy works! We hope you will all consider joining us this year for Dystonia Advocacy Day on April 30 - May 1 in Washington, DC to help us continue to this good work. For more information on Advocacy Day, contact us at dystonia@dystonia-foundation.org or 312-755-0198.

Happy New Year

2012 was a year of many achievements: research advancements, the launch of the DMRF’s clinical fellowship program, success in our legislative efforts, and thousands reached through our education and support programs. As we look ahead to the New Year we are filled with hope for what it will bring our community. We are inspired to continue to aggressively push forward for more scientific breakthroughs and more awareness and recognition of dystonia. We will not rest until our mission is achieved, and we cannot do it alone. We are united in our shared goal of ending dystonia. Last year saw the DMRF family pull together to meet a challenge grant from an anonymous donor to raise an additional $110,000 for our critical research program--which led to a total of $210,000 when matched by the donor. Words cannot express how grateful we feel to our leaders, our donors, our advocates and everyone who has worked to support someone in the DMRF community this past year.

On behalf of the DMRF Board of Directors, staff and for myself, I wish everyone a happy, healthy 2013.  We look to shatter all expectations for scientific advancements, dystonia awareness, and support of those affected by dystonia and their families this coming year. Let’s get to it!

DMRF-funded Researchers Discover Latest Dystonia Gene

 

Congratulations to the team of researchers led by Laurie Ozelius, PhD at Mount Sinai School of Medicine for discovering the latest gene associated with dystonia. The GNAL gene is now the fourth associated with primary torsion dystonia, the symptoms of which may vary from focal to generalized, adult-onset or childhood-onset.

This discovery was made possible by collaboration among several movement disorders centers and over 20 years of partnering with affected families to collect samples and data. The movement disorders team at Beth Israel Medical Center led by Susan Bressman, MD played a major role in outreach to affected families, including working with the DMRF to advertise the need for volunteers through the Dystonia Dialogue newsletter and other media.

The DMRF is extremely proud to have partially supported this discovery. We extend our sincere thanks to all of you who support the DMRF and make it possible for us to fund essential research such as this. We’re also grateful to the 40+ families who participated in this study. The GNAL gene provides another clue along the trail toward improved treatments and a cure. And in the meantime, this discovery will lead to additional options to affected families in terms of diagnosis and identifying family members who may be at risk of inheriting the mutations associated with this gene.

DMRF’s in-house scientist, Dr. Jan Teller said of this discovery, “Every time researchers identify a gene, another piece of the puzzle falls into place to clarify our understanding of dystonia. The protein associated with the GNAL gene may hold important clues about how dystonia originates in the brain and potential new strategies for treatment.”

Many thanks to the researchers who contributed to this study and have given us the next piece of the dystonia puzzle. This latest discovery reflects the core of what the DMRF family is all about: researchers and affected families collaborating toward the common goal of better understanding dystonia and finding a cure.

Click here to read more about the GNAL gene discovery or go to: http://ow.ly/gdXHW

Gratitude

At this special time of the year we are given the wonderful opportunity to pause and reflect on what we have to be grateful for in our lives. I am grateful for the opportunity to serve this community. Dystonia is a lousy disorder – FULL STOP. The pain and limitations it brings to those who battle it every day are life changing.  Despite personal burdens, people in this community are incredibly generous in their willingness to talk with someone who has recently been diagnosed or who might be struggling and need to talk with someone who can truly empathize. We are a community with dedicated physicians, nurses, and other healthcare professionals who work tirelessly to improve the lives of those with dystonia. Our researchers are smart and passionate about their work, further inspired when they meet those who have dystonia – to forge ahead and advance our understanding of this neurological mystery. The DMRF Board of Directors, our local leaders, and staff are some of the most dedicated, selfless people I know. It is a privilege to be a part of the DMRF family. I am thankful for every member of this family and look forward to that time when we will all celebrate the achievement of our mission.

Battling Dystonia through Advocacy

An election year, with all the mud-slinging ads, has the potential to make us all a bit cynical about the democratic process.  However, the experience of dystonia advocates should make believers out of us.  The power of advocacy is clearly demonstrated through the work of the Dystonia Advocacy Network (DAN) organizations. This year alone the DAN has worked with other disease organizations on the important issue of changing the regulations allowing device companies with Humanitarian Device Exemptions (such as the company responsible for the hardware used in deep brain stimulation for dystonia)  to make a profit – critical to our attracting new companies to rare diseases. And this legislation has passed!  Our efforts to have dystonia included on this list of conditions eligible for application for federal funding of research continue, and this year dystonia has been included on the list emerging from the Senate!  This is now in a holding pattern because of the Federal budget situation and the Continuing Resolution – but this demonstrates the importance of dystonia advocacy.

We are now looking to have FDA be better informed about dystonia, and the DAN is inviting those affected by dystonia to share your story with the FDA through the patient-focused drug development initiative and help the FDA understand what our community wants relative to treatment. If you are interested, please go to http://dystonia-advocacy.org/actionalerts/ before November 1, 2012.

Advocacy is so important and it is a way to fight dystonia while our scientists battle it in the laboratories.  Please consider joining us for Advocacy Day next year scheduled for April 30 – May 1, 2013 in Washington, DC.  To learn more, please contact me at jhieshetter@dystonia-foundation.org

We have a great deal of work yet to do and we hope you will consider joining us next year.