THE BLOG
09/19/2014 05:49 pm ET Updated Nov 19, 2014

'What Is Dystonia?'

September is Dystonia Awareness Month. That statement is probably as much of a surprise -- and a mystery -- to the general public as it is for them to learn that as many as 500,000 Americans may be afflicted with this little-known neurological movement disorder. This year is special, though -- Dystonia Awareness Month 2014 sees the culmination of a three-year quest to bring together the various domestic and international dystonia advocacy groups' awareness efforts within the same month, giving the patient community a united voice for awareness. This month has brought hope and inspiration to a patient community that has seen very little reason to hope for decades. They have endured years of living in pain, stigma, and solitude. They've endured suspicions that the source of the disease is psychogenic. Dystonia patients were routinely institutionalized in psychiatric hospitals as recently as the 1980s, and it was 1997 that dystonia was universally recognized as having organic causes. The lack of awareness is especially alarming in government as Congress routinely threatens to cut the NIH budget and with it, the bulk of federal funding for dystonia research. In the past five years, NIH funding has totaled $6 million for the Dystonia Coalition, or $2.40 per patient annually.

"What is dystonia?" and a blank look have been the typical responses to anyone raising awareness. Dystonia is a neurological movement disorder where the brain sends spurious signals to various muscles, resulting in abnormal postures or involuntary movements. Presentations vary with the different body parts affected at various severity levels. The resulting spasms can be painful and debilitating. Unlike other neurological movement disorders, cognitive function is intact. To date, 23 genetic mutations, identified from DYT1 - DYT23, have been identified in early onset generalized dystonia. Beyond this, very little is understood about dystonia. Nothing is known about organic causes of non-genetic dystonia (which make up the majority of cases), although it's suspected traumatic brain injuries and reactions to medication can cause it. Dystonia is not revealed in brain imaging studies, which are useful in ruling out other diseases like tumors or Parkinson's. There is no cure and no therapeutic medications have ever been developed for dystonia. Botulinum Toxin injections have had some success in reducing symptoms in some cases. Deep Brain Stimulation procedures are able to mask symptoms in a few patients. These provide relief to improve the patient's quality of life but a majority of the patients do not have good clinical responses to current treatments. Many patients are considering medicinal marijuana for relief.

This September, the community has responded, with many patients "coming out" for the first time to tell their stories. Empowered to be their own best advocates, they have begun to spread word of their disease. This effort comes at a steep price as physical exertion is painful if not impossible. Many use social media in an effort to raise awareness, not only of their disease but of their struggles. They want the public to know about dystonia and to give faces for them to associate with it..

I am intimately familiar with the struggles they face because I have lived it. I went undiagnosed for 17 years and received my diagnosis of dystonia in 2007. That was the first time I ever heard of it, and I considered myself to be a well-educated person. I spent years feeling sorry for myself, living as a recluse, ashamed to be seen in public with my symptoms. After 2 years I realized I couldn't live like that. I decided to fight dystonia and picked up the advocacy challenge in 2009. Today I am proud to call many of my fellow patient advocates friends.

Newly minted advocates came up with an idea to enlist the White House's help with a petition to officially recognize the month in which we, for the first time, came together as a community to speak out for ourselves. Should the petition garner 100,000 signatures by the end of the month, the White House would be obligated to officially recognize September as Dystonia Awareness Month. It is a revenue neutral action that would raise the hopes of 500,000 Americans and their families and friends. Given the woeful state of dystonia awareness, the success of the petition is in real jeopardy as it has fallen well off the pace necessary for success.

Regardless of the outcome of the petition, this month, by all measures, is already a success. The number of patients actively advocating has markedly increased. The newly discovered empowerment will spearhead a movement that will bring awareness to such a level that patients need no longer explain dystonia. Having an awareness month in September brings more opportunities to reach more people. Outreach to schools enriches our volunteer pool and connects us to young people -- our future physicians, medical researchers, scientists, business, and government leaders who may hold the keys to treatments and cures. This September has launched the community on a trajectory that will bring awareness levels to a point where hoping for a cure is not just a distant dream. Until then, I hope we can get to the point where dystonia research fundraising is not met with blank stares but with recognition, where children with dystonia don't have to worry about bullying or young parents living with dystonia don't have to worry about how they'll raise their children. Above all, I look forward to a future were there's no longer a need to write awareness articles like this one, because a cure will already exist. Until then, there is a lot more advocating to do,

Click here to sign the petition asking the White House to recognize September as Dystonia Awareness Month

To learn more about dystonia and find out how you can help, visit American Dystonia Society or you can e-mail the author.