National Spasmodic Dysphonia Association

Scott was used to losing his voice. At least once a year, he would have a bout with allergies and laryngitis resulting in this, but in 2005 something was different. It had been over a month, and his voice still had not returned. Concerned, he scheduled an appointment with his doctor and this turned into visits to multiple doctors, MRI scans, treatment for acid reflux and strep throat, and finally a referral to a psychologist. After all, wasn’t it a little “crazy” that he could talk fine to his cat and to himself? The recommendation was valium to relax him, but Scott passed on that option and kept looking. He shared,"That felt wrong. I was used to speaking to large groups, and I didn't feel any more nervous in front of people."

Eventually Scott made the connection to his voice problem with his past issue with his hand, a focal dystonia called writers cramp. After typing in vocal dystonia into Google and hearing "his" voice in a video, he discovered that his problem had a name, spasmodic dysphonia. When he was referred to a doctor who specialized in spasmodic dysphonia, his diagnosis was confirmed within seconds of speaking. Scott tried botulinum toxin injections for several sessions but the results were limited. He later learned that one of his vocal cords was out of alignment which could have affected the response. For him though, there were too many variables with the injections, including dosage and placement. Scott was hoping to find a long-term solution to his spasmodic dysphonia and did not want the symptoms to be masked by the impact of the injections. That set him on a varied path of treatments including acupuncture, diet, certain types of cough syrup, relaxation, speech therapy, but still no definite relief of the SD symptoms.

During this time Scott found an outlet by writing his blog. He said, “The blog became incredibly important to me because you don’t feel connected to the world just because you are listening. You feel connected when you know you have been heard. Since I couldn’t do that in person, the interaction in the blog became hugely satisfying and was important to my survival. I was being understood so that kept my spirits up.” Three years later Google proved most effective again in his search for answers. His alerts had been set to receive updates on “spasmodic dysphonia” and through one, he learned about a surgery in Japan. After discussing this procedure with his doctors, he was led to an option much closer to home. An appointment was scheduled with Dr. Gerald Berke, Professor and Chair in the Department of Head and Neck Surgery at the University of California in Los Angeles (UCLA).

Scott jokes that it took about three seconds for Dr. Berke to confirm his SD diagnosis after he said “he-llo.” This appointment offered a new treatment option, a surgical technique called Selective Laryngeal Adductor Denervation Reinnervation (SLAD-R). Dr. Berke, who pioneered this procedure, laid out the risks very carefully. Worthwhile improvement in voice had been seen in about 85% of the cases, but he warned that 15% did not benefit. That 15% ran the risk of not being a candidate for future treatments. Scott shared, “While that was a scary possibility, the quality of my life was so affected by my inability to speak. I had to take this chance because the alternative was a life I didn’t want.” His surgery was scheduled.

A month later, Scott underwent the operation. “The interesting aspect of this procedure is that it doesn’t penetrate to the inner structure of your throat. He is not ‘playing’ with your vocal cords, but rather rewiring the circuitry of the nerves in the front of the neck,” Scott said. It would take about three and half months until the new nerves regenerated and the voice came back. Scott was trying to plan his follow-up visits and was told, there were none. It either works or it doesn’t, which he found amusing.

The recovery was not easy. Scott said he dreaded feeling hungry because his swallowing was affected for months. He tried to speak during those months, but his brain was still not connecting with his vocal cords. All he could do was whisper. But he was not discouraged, because he kept focusing on the final outcome. And then, three and half months after the surgery, almost to the day, his wife, Shelly said something to him, and he spoke back. In disbelief, she said “You just talked.” And while weak and breathy, it was actually speech.

In the months that followed, his voice steadily improved. Scott shared, “My affirmation at the time was ‘I will speak perfectly’ if such a thing even exists. I had a weak nasally voice before I ever got spasmodic dysphonia, but after the surgery, the quality of my voice was substantially better than before SD.” Dr. Berke hypothesized that he might have had “latent” spasmodic dysphonia all his life, but ended up with a far more functional voice than ever before. Scott concluded, “And life has never been more enjoyable or satisfying. But one of my big motivations for writing this book was that I wrote it, in part, for the person in the middle of nowhere who has lost his voice to spasmodic dysphonia.”

Hear Scott's voice by clicking on the links: Pre-surgery and Post-Surgery

We had over 125 attend this first webinar and we are excited to connect with the SD community in new ways. We hope you find this information useful and informative. Thank you for your continued support of the NSDA!

The Harvard Brain Tissue Resource Center is responsible for collecting, preserving, and distributing human tissue to qualified scientific investigators who are conducting important spasmodic dysphonia research. Scientific Director Dr. Christy Ludlow represents the NSDA on the research committee which reviews applications from researchers requesting brain tissue. Since the majority of the scientific research studies can be carried out on a very small amount of tissue, each donated brain provides a very large amount that can be used by many different researchers at institutions throughout the U.S. and worldwide. When you enroll as a potential brain donor, you are giving a very precious gift which will benefit many future generations.

The NSDA appreciates the response from the community. Based on questions received, below is an outline of the process involved. When the brain donor passes, the Next-of-Kin or Legal Representative contacts the Harvard Brain and Tissue Bank. Once the staff at Harvard receives the notification phone call, they will ask specific questions about the donor and then the staff person will make contact with a pathologist in the donor's local area (hospital, funeral home, etc, depending on where the donor is). Harvard staff will make arrangements for the recovery to take place. All of this needs to be done soon as possible. The NOK or legal representative needs to authorize the brain recovery to take place and this can be done via phone or fax. Since the recovery is done as close in time as possible to the donor’s passing, it does not impact funeral or memorial services. In addition, the entire brain is removed but it is done discreetly so as not to affect the outward appearance of the donor, allowing for a viewing during the memorial service. The brain needs to arrive at Harvard within the 24 hour period after passing.

The NSDA assumes any and all costs, so there is no expense to the family. The family will be asked to complete a questionnaire about the donor and will also be asked to grant permission for the donor’s medical records to be sent to the Brain Bank. The medical history and questionnaire are both important so the Brain Bank can reliably give researchers the correct tissue samples needed for their specific studies. When this information is received and after the tissue has been analyzed by the neuropathologist, the family will receive a copy of the final neuropathology report.

We all met in the car park at the bottom of the mountain and after a few group photographs the ascent commenced in cloudy damp conditions. The weather in the UK had been atrocious for weeks  but no one expected the conditions on the mountain to be quite so challenging.  Very soon on the way up the conditions began to deteriorate; the cloud came down, the rain started and the mist rolled in. 

These intrepid supporters all pushed bravely on as I passed, waving at them from the relative comfort of the rickety, cramped, damp old train. On my arrival at the top there was thick fog, driving rain and it was blowing a gale. I imagined that many of the group would have turned back but with true grit everyone eventually arrived at the cafe at the top. All in good spirits, cold and wet, but laughing about their experience and their individual struggles to reach the top. John made sure everyone had arrived safely, gallantly going back to find and help a few stragglers.

Once everyone was refreshed with a hot drink, many were eager to start their descent, as the return can be more challenging that the upward climb. I began my journey down by train feeling inspired by all of them, and also feeling somewhat guilty that they had all put themselves through this for me.

At the bottom the weather had improved dramatically; the sun was out and it was warm. Later during the afternoon individual small groups began to arrive at the bottom and gather in the square for a drink, tired but elated by their success and willing to swap their experiences with fellow trekkers. One topic of conversation was “What shall we do next?”

I am inspired by them all and I thank every single one of them for their time, energy and contribution in making this a very successful fund raising event. Our aim was to have raised a few thousand  dollars for NSDA – to help finance their mission of awareness, research and support  for people with SD.

Photos of the climb are posted in the Photo Gallery section: http://www.dysphonia.org/photogallery.php

We had some of the leading experts in the spasmodic dysphonia and dystonia community speaking including:

Dr. Gerald Berke, Chairman of UCLA Head and Neck Surgery

Dr. Laurie Ozelius, Associate Professor in Genetics and Genomic Sciences and Assoc. Professor in Neurology at Mt. Sinai School of Medicine in NY

Dr. Christy Ludlow, Professor of Communication Services and Disorders and Director of the Laboratory of Neural Bases of Communication and Swallowing at James Madison University in VA

Presenting on the latest updates in treatments, genetics, and research, these three doctors also participated in a spirited questions and answer session.

After lunch, Dr. Tom Hofmann, Chair of the Psychology Dept. at Hodges University in Florida, talked about the Quality of Life with SD.

A full summary of the meeting will be available shortly. We thank all that attended the meeting to make is a success.

This collaboration is between dystonia patient organizations, including the NSDA, and the research leaders of the Dystonia Coalition to develop and offer this self-reporting patient registry to the dystonia community. "The registry is a fantastic new opportunity for the dystonia community worldwide. It will be extremely valuable for fostering better communication between people who are affected by dystonia and researchers who are trying to learn more about dystonia," said Dr. H. Jinnah, the principal investigator for the Dystonia Coalition.

Although the focal dystonias, including spasmodic dysphonia, have many different manifestations, most experts believe they share a common pathogenesis or mechanism that causes the disorder. The common causes may be a similar gene defect, similar lifetime experiences, or both. Collecting information from different patient populations may help us identify the common features that they may share. This Registry complements the current scope of research for the Dystonia Coalition, a National Institutes of Health supported clinical research effort.

We anticipate that it will take 10 to 15 minutes to complete the survey. However, you may log out at any time and your answers will be saved. Please know your responses will remain confidential. Your participation is completely voluntary. We hope you will register today!

http://www.globaldystoniaregistry.org/

We are pleased to join with the Benign Essential Blepharospasm Foundation, DySTonia, Inc., the Dystonia Medical Research Foundation, and the National Torticollis Association as a member of the DAN – working every day to ensure that the legislative needs of the dystonia community are met and in this case, that dystonia researchers have the opportunity to compete for critical federal research support.

Every year on April 16, voice professionals worldwide join together to recognize World Voice Day. World Voice Day encourages men and women, young and old, to assess their vocal health and take action to improve or maintain good voice habits. The American Academy of Otolaryngology-Head and Neck Surgery has sponsored the U.S. observance of World Voice Day since its inception in 2002.

New Q-code Will Help Simplify Billing and Reimbursement

March 30, 2011 - Merz Pharmaceuticals, LLC announced today that the Centers for Medicare and Medicaid Services (CMS) has granted a unique billing code, Q2040, for Xeomin (incobotulinumtoxinA). Merz expects that this unique billing code, which becomes effective on April 1, 2011, will help simplify the billing and reimbursement process for prescribers of XEOMIN.

The US Food and Drug Administration (FDA) approved Xeomin in July 2010 for the treatment of adults with cervical dystonia, to decrease the severity of abnormal head position and neck pain in both botulinum toxin-naive and previously treated patients, and blepharospasm in adults who have been previously treated with Botox (onabotulinumtoxinA).

As permanent national codes are issued annually, CMS awards Q-codes when it identifies a need to provide a unique code in order to reduce billing confusion before the next national update on January 1 of the following year. Merz has applied for and anticipates receiving a permanent J-code for Xeomin on January 2, 2012.

For providers and payors, utilizing a unique Q-code is in most circumstances administratively identical to billing under a permanent J-code.  The availability of this unique code, Q2040, means that in most instances Xeomin will no longer be billed under a miscellaneous code. 
Merz also recently introduced two comprehensive programs to provide patients with financial assistance for Xeomin. The Xeomin Patient Co-payment Program is easy-to-use and offers eligible patients assistance for their actual out-of-pocket costs for therapeutic treatment with Xeomin. Eligible treatment-related costs may include the cost of Xeomin, associated guidance therapy and related administration fees.

Additionally, the Xeomin Patient Assistance Program provides Xeomin at no cost to eligible patients who are experiencing financial hardship, do not have third-party drug coverage, and who are not eligible for government-funded drug programs.

For more information about reimbursement support and financial assistance programs for Xeomin, visit www.Xeomin.com or call 888-4-XEOMIN (888-493-6646). Dedicated support representatives are available from 8 am until 8 pm (EST), Monday through Friday.

About Xeomin
Xeomin is a therapeutic botulinum toxin product. Xeomin (incobotulinumtoxinA) is manufactured using a proprietary process that isolates the therapeutic component and eliminates accessory proteins. More than 84,000 patients have been treated with Xeomin worldwide since 2005.  The US is the 20th country to approve Xeomin for the treatment of cervical dystonia and blepharospasm.

Xeomin is the only botulinum toxin that does not require refrigeration prior to reconstitution. Xeomin is available in 50-unit and 100-unit vials, which Merz believes may allow for more precise billing and reduce wastage. 

About Merz
Merz Pharmaceuticals, LLC is a part of the Merz Group of companies and was established in 1995 to develop and commercialize products for the Merz Group. Areas of therapeutic focus include Neurology, Dermatology, and Podiatry.