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.

Back to School

Many children have already started school, while for others today is their first day back. Regardless of when they started, the new school year is the focus of many families this time of year. The early days of a new grade are filled with hopes for how the year will go – what they will learn and what new friendships will develop over the next months. For those children who are dealing with dystonia, this time of year is also full of other thoughts – Can I keep up with the school work?  Will other kids make fun of me because of my dystonia? Will my treatments make it hard for me to concentrate and pay attention in class?

Parents worry about how their dystonia-affected child will manage the academic and social demands of a new school year. This can be a very anxious time for everyone. The DMRF is here to help those families.  A wonderful blog called Dystonia & Special Education (http://dmrfspecialed.blogspot.com/) is  authored by longtime DMRF member and parent, Roberta Senzel. The blog offers tips on knowing your child’s education rights, how to approach schools to request accommodations, and how to talk with a teacher about a child’s dystonia.

Additionally, the DMRF is proud to announce the availability of a new book for children written by Zak Weinstein and his mother Alyssa Dver titled, Never Look Down. Zak has dystonia and wanted to share his advice on how to manage life with the disorder. The book is a wonderful way to begin talking with a child about their dystonia. We are grateful to the reviewers:  Nutan Sharma, MD, PhD, Naomi Lubarr, MD, Anna Nolan, PhD, Jennifer Tuttelman, MS, and Jeffrey Weinstein, MS for their comments and assistance in developing this fabulous resource for kids and their families. If you are interested in obtaining a copy of Never Look Down for your child, email us at dystonia@dystonia-foundation.org

The DMRF is also ready to help connect parents with other families who have navigated the challenges a new school year brings to everyone. For example, if you are on Facebook, be sure to check out the closed group called Support4Parents of Children with Dystonia (https://www.facebook.com/groups/support4parents.dmrf/). Please know you are not alone out there. We stand ready to help.

Millie Munoz Inspired Everyone She Met

Dystonia robs a person of many things – the ability to control their own body, have a voice, control their day. As it has done with so many others, dystonia took many things from Millie Munoz.  But it never did take Millie’s zest for life, or her strong desire to help and inspire others. 

Sadly, Millie passed away on Monday, and while those of us who knew and cared deeply for her try to cope with this huge loss, we are in awe of Millie and all she did with her life. Millie was a dystonia advocate, working tirelessly to make sure that the dystonia community had what it needed.  She went to Washington, DC and met with members of Congress to educate them about dystonia.  She utilized the media to share her story so that others might better understand what dystonia is, and she worked with young people affected by dystonia to help them develop strong support networks and be educated about every aspect of dystonia. Millie was a frequent speaker at DMRF educational forums, often at her own personal health risk – pushing herself to travel so that she could participate. Millie touched everyone she met. 

You could not help but be swept up in her enthusiasm and optimism.  As another dystonia advocate said today upon learning of her sudden death, “I can’t imagine the world without Millie.”  Nor can any of us who worked so closely with her and who were honored to call her a friend. 

Our sympathies go out to her family and all who knew her. The sun shines less brightly because she is gone, but the world is a better place for her having been here, even for a short period of time.