Beka Serdans, RN works at a movement disorders clinic at Columbia University Medical Center in New York City

Tell me about your experience with dystonia and how it has affected your life.
I have had dystonia since 1995 and diagnosed myself from reading about the disorder. The form of dystonia I have affects my neck, arm, and back. I've been through lots of medications that didn't have much effect and I am now considering surgery. It affects my whole life. There is a stigma associated with the disorder.

How does being a nurse as well as a dystonic patient affect your perspective on the disease?
Being a nurse gives me a different perspective on the disorder. For example, from the patients I deal with I see various psychosocial effects of dystonia, such as depression and unemployment. They come to me for information; I am used as a resource. For example, patients ask me, "Now that I have dystonia, what kind of a job can I hold?"

How did you decide to be tested for the DYT1 mutation and how has this decision impacted your life?
It took a year for me to decide to get tested for the DYT1 mutation. After doing some research and knowing some family members had similar movements, I wanted to know what form of dystonia I had. I wanted an answer, not necessarily closure. Although my test was negative for the DYT1 mutation, knowing the result brought relief that it wasn't PTD. I was relieved to not have the mutation because it lessened the guilt that goes along with the disease. Not having the DYT1 mutation somehow minimized the fact that "I wasn't responsible for the disease" and reduced the impact of the question I asked myself, "What did I do to get this disease?"

Why do you think genetic testing for dystonia is important?
Genetic testing is an important diagnostic tool. The clinical presentation of dystonia is a mixed picture and DNA testing can help. DNA tests can rule out or confirm the presence of the DYT1 mutation. Knowing the form of dystonia helps determine if it is treatable. For example, if a patient has Dopa-Responsive dystonia, treatment with levadopa may improve their condition.

Why is knowing if a patient has dystonia important?
Knowing if a patient has dystonia ends the search for a physician who can give them an answer as to what disorder they have. This information can clarify therapeutic options as well. Ultimately, as with any disorder, knowing what the disorder is helps to provide the patient with a prognosis. Certain medications can be harmful when given to dystonics and can actually cause an acute form of dystonia or even a prolonged form. Also, if an individual already has dystonia, these medications can aggravate their condition.

What has been your experience with therapies?
I've taken Trihexyphenidyl, which caused memory problems. I've taken Baclofen and Sinemet because my neurologist thought I had dopa-responsive dystonia, which I now know I do not have. I have taken benzodiazepines, which caused parkinsonism in me, causing me to stumble and fall on the street. I have taken Botox type A to which I developed antibodies after six treatments, making it ineffective. Since 1998, I've been taking Elan's botulinum toxin type B as part of a research protocol and have yet to develop antibodies to it. We are all waiting for FDA approval of Elan's botulinum toxin type B. I've also taken clonazepam, a common drug among dystonics, which is an antispastic medication for my muscles. I do not take any pain medications because I know nothing will help. I am in pain 50-70% of the time and I just persevere through it. It helps that I am surrounded by colleagues who understand the disorder and who provide support.

I am scheduled for surgery, the procedure is called selective denervation and only a handful of neurosurgeons perform the procedure. So, I have encouraged the neurosurgeons from Columbia University Medical Center to attend my surgery so they can learn the procedure.

Neurosurgeons say it's best to get the procedure performed as close to the time of diagnosis as possible because the degree of spinal curvature and fibrosis affects the outcome of the surgery. The more fibrosis present in the individual, the likelihood the surgery will provide benefit decreases. There is a 50-60% success rate for the procedure and some dystonics have to get it done again in the future.

What dystonia support groups do you find useful?
DMRF in Chicago, Bachmann-Strauss, and Dystonia, Inc. I am currently establishing Care 4 Dystonia, which is a new group.

I understand you've written about dystonia, how can people order your publications?
Currently, you can order my dystonia guide "Demystifying Dystonia" through the Bachmann-Strauss Dystonia & Parkinson Foundation website: www.dystonia-parkinsons.org. Also, you can receive a book of my poems "Dystonia is. . ." from the Dystonia Medical Research Foundation website: www.dystonia-foundation.org.