Winter 2010 - Dystonia Medical Research Foundation

MAGAZINE OF THE DYSTONIA MEDICAL RESEARCH FOUNDATION | WINTER 2010 | VOL. 33 • NO. 3
Dr. Deborah Kilpatrick uses her professional
background and dystonia diagnosis to bring
a unique perspective to the science team.
Says:
7 Survey
Dystonia, Doctors,
& Care
VP of
8 Meet
Science Deborah
Kilpatrick, PhD
13
DMRF Co-sponsors
Grants with
Dystonia Coalition
inside this issue
8
Balancing Act by the Bay
Meet Vice President of Science Deborah Kilpatrick, PhD
13
DMRF Co-sponsors Grants with Dystonia Coalition
Projects Focus on Treatment Advances & Quality of Life
18
Magic Straws, Dystonia Angels & Never Giving Up
Jim Gianelli Seeks Treatment for Oromandibular Dystonia
22
Dystonia on the Green
Golfers with Yips May Have Focal Dystonia
23
Personal Profile
Meet Heather Goraj
What is Dystonia?
Dystonia is a disorder that affects the nervous system. Improper
signaling from the brain causes muscles to contract and twist involuntarily.
Dystonia can affect a single body area or multiple muscle groups. There
are several forms of dystonia, and dozens of diseases and conditions
include dystonia as a significant symptom. For more information visit:
http://www.dystonia-foundation.org
On the Cover:
Deborah Kilpatrick, PhD is one member
of the expert team leading the DMRF’s
science activities. Deborah is pictured with
President Art Kessler; Scientific Director
Mahlon DeLong, MD; Lifetime Honorary
Director Charles Markham, MD; and
Science Officer Jan Teller, MA, PhD.
Read more on page 8.
This is the year’s third and final article about the key leaders of the
DMRF’s science team. Find complete past issues of the Dystonia Dialogue
containing interviews with Scientific Director Mahlon DeLong, MD and
Science Officer Jan Teller, MA, PhD at http://www.dystonia-foundation.org
under “News & Events.”
Partial support of the Dystonia Dialogue is provided by educational grants from Allergan, Inc.,
The Medtronic Foundation, and Merz Pharmaceuticals.
The Dystonia Dialogue is the magazine of
the Dystonia Medical Research Foundation
(DMRF). It is published three times a year to
provide information to individuals affected by
dystonia, family members, and supporters of
the DMRF.
The Dystonia Medical Research Foundation
(DMRF) is a non-profit, 501c(3) organization
founded in 1976. The mission is to advance
research for more effective treatments and
a cure, to promote awareness and education,
and to support the well being of affected
individuals and families.
Dystonia Medical Research Foundation
One East Wacker Drive • Suite 2810
Chicago, Illinois 60601-1905
Phone 312 755 0198
In Canada 800 361 8061
Fax 312 803 0138
Email dystonia@dystonia-foundation.org
Web www.dystonia-foundation.org
The Dystonia Dialogue reports on developments in dystonia research and treatments
but does not endorse or recommend any of
the therapeutics discussed. Individuals are
urged to consult a physician with questions
and concerns about their symptoms and care.
Staff
Janet L. Hieshetter
Executive Director
Kathleen Behner
Director of Operations
Dane Christiansen
Grassroots Coordinator
Jessica Feeley
Editor and Special Projects
Suzanne Haigh
Accountant
Julie Mack
Administrative Coordinator
Martha Murphy
Brain Bank Liaison
Emma Pinto
Development Associate
Tammy Reed
Director of Development
Jody Roosevelt
Science and Technology Manager
Jan Teller, MA, PhD
Science Officer
Printed in the USA.
© Dystonia Medical Research Foundation
DYSTONIA DIALOGUE
3
Foundation Update
Dear Friends,
The effort to eradicate dystonia and improve quality of life for those living with the disorder is
global in scale. There are literally people all over the world working to promote research, educate
the public, and support affected individuals and families.
ART KESSLER
PRESIDENT
JANET L.HIESHETTER
EXECUTIVE DIRECTOR
The Dystonia Medical Research Foundation (DMRF) is proud to continue our history as part of
this international dystonia network. We hosted President of the European Dystonia Federation
(EDF) Monica Benson and Executive Director Alistair Newton at the 2010 annual board of
directors meeting to support our ongoing dialogue about critical research. We were equally
pleased to participate in the EDF’s general assembly meeting in the fall with DMRF Science
Officer Dr. Jan Teller providing an update on global research efforts.
The DMRF is delighted to continue our longtime partnership with the EDF as well as with
the Foundation for Dystonia Research (the Belgian organization led by DMRF board members
Greet Ruelens and Lieve Van Gorp), and the Dystonia Coalition in the development of the 5th
International Dystonia Symposium. The International Dystonia Symposiums are a series of
scientific meetings created to stimulate worldwide attention to dystonia and provide a forum
for dystonia clinicians and investigators around the world. The first symposium of this kind
took place in 1975 to elevate dystonia research and provide a platform for those in the field to
challenge widespread misconceptions about dystonia and create a space for robust discussions
on diagnosis, treatment, and research.
We celebrate these partnerships and the importance of global outreach. It is only through this
kind of collaborative effort that we will all celebrate our victory over all forms of dystonia.
The DMRF has always been committed to working with the brightest minds and most
accomplished partners to advance our goals, regardless of geography. It is exciting to learn how
treatment approaches and research strategies vary abroad and how patient groups in different
countries are changing lives. We very much look forward to the opportunities, collaborations,
and findings to arise from the 5th International Dystonia Symposium and will keep our
members apprised of these developments.
Global efforts on behalf of the dystonia community have never been more important and, thanks
to advances in communications technology, it has never been easier to maintain and grow our
relationships with partners abroad. The relationships the DMRF has built over the last decades
have set the stage to continue the important tradition of International Dystonia Symposiums
and to continue leveraging as many resources and opportunities as possible to advance dystonia
research on a vast, multi-national level. Your support helps make this possible—thank you.
Sincerely,
Art Kessler
President
Janet L. Hieshetter
Executive Director
WINTER 2010
4
FDA Approves Xeomin®
to Treat Dystonia
Dystonia Reps Named to
DOD’s New Dystonia Panel
Merz Pharmaceuticals announced that the Food and
Drug Administration (FDA) has approved Xeomin®,
a botulinum neurotoxin type A for the treatment of
adults with cervical dystonia or blepharospasm
(dystonia of the brow and eyelid muscles).
Three members of the dystonia community, Dee Linde,
MA, CPhT, Peter Cohen, Esq, and Aaron Lewis, MD,
were named to the Department of Defense’s (DOD)
Peer-Reviewed Medical Research Program’s new
Dystonia Panel as Consumer Reviewers.
This summer dystonia advocates met and communicated
with legislators in Washington, DC to ask members of
Congress to take specific steps to protect patient access
to Xeomin® and other dystonia treatments. Read more
about these efforts on page 10.
The appointment of these individuals follows the
addition of dystonia to the DOD’s 2010 list of conditions
eligible for research earlier this year. The fact that these
individuals have been added to the panel is a strong
indication that the DOD is interested in actively
pursuing dystonia research.
For more information about Xeomin®, visit:
http://www.merzusa.com. For more information
on botulinum neurotoxin therapy and other dystonia
treatments, visit http://www.dystonia-foundation.org
DMRF President Testifies Before
the Food and Drug Administration
On June 29, the Food and Drug
Administration (FDA) held a
hearing on rare diseases and its
processes for approving rare disease treatments. DMRF
President Art Kessler appeared before the FDA panel to
give the dystonia community a voice in this discussion.
Art’s presentation included before and after video
clips of individuals who received botulinum neurotoxin
injections or deep brain stimulation (DBS). He also
spoke about his own story and the dramatically positive
impact DBS has had on his life. Art informed the panel
that their efforts to expand access to treatments like
DBS for rare disease populations were being undermined
because many insurers deny coverage for the procedure.
Art called on the FDA to work with government and
private entities to address this barrier to patient access
in a timely and appropriate manner.
The responsibility of these consumer reviewers is to add
dimension to the dystonia grant evaluation process by
complimenting the perspective of the scientific reviewers.
The consumer reviewers will provide perspective on
how submitted dystonia research grant proposals might
impact the advancement of improved medical care and
enhanced quality of life for dystonia patients. The DMRF
was proud to nominate and work with these outstanding
candidates in preparing their applications for these
appointments.
In Memoriam
Beverly Jones, a world-traveled homemaker and leader of the North Bay
Dystonia Support Group, tragically
passed away in July following a traffic
collision. She was 77. Beverly was a
tremendous asset to the dystonia
community and a source of comfort
to the countless affected individuals and families she
touched in her work with her support group. The
Dystonia Medical Research Foundation extends
heartfelt sympathy to Beverly’s surviving children
and family.
There is more than one way to contribute financially to the DMRF.
Learn about your options at http://www.dystonia-foundation.org under “Donate.”
DYSTONIA DIALOGUE
5
Genetic Researchers Need Your Help
(and a Little Blood)
Finding genes associated with dystonia may be the key to
understanding how to better treat or cure the disorder. A
collaborative team from Beth Israel Medical Center and
Mount Sinai School of Medicine is conducting a study aimed
at finding these genes. If there are two or more living individuals
in your family with any form of dystonia you may be eligible to volunteer for this
important study. Participants will be asked to complete a short questionnaire
and medical record release form, sign study consents, and give a blood sample,
which may be done locally. Your information will be kept strictly confidential.
You can help to unlock the mysteries of dystonia.
For more information please contact:
Deborah Raymond, MS
Department of Neurology, Beth Israel Medical Center
Phone: 212-844-6053 • Tollfree: 888-228-1688
Email: draymond@bethisraelny.org
2011 Grant Process Underway
The Dystonia Medical Research Foundation issued a call for research funding
applications in September for a deadline of December 15. The Medical &
Scientific Advisory Council will be reviewing the applications for discussion
at the annual meeting in February. Grant announcements will be made in the
spring—stay tuned!
Get the Inside Science Scoop
Research Update Webinar:
January 26, 2011
7:00 pm/EST • 6:00 pm/CST • 4:00 pm/PST
Call and log in to hear the latest news on DMRF science
activities from Science Officer Jan Teller, MA, PhD. Advance registration required.
For more information and to register, go to https://www2.gotomeeting.com/
register/599425898 or visit http://www.dystonia-foundation.org and look for
the event on the calendar.
Ain’t Too Proud to Beg (or Bribe)
Tell us what you think of the Dystonia Dialogue! Fill out a survey at
http://www.dystonia-foundation.org/feedback
Survey takers who provide their name and contact information before December 31,
2010 will be entered in a drawing to win a new DMRF baseball cap!
Upcoming
Events
Hope to see you at the
following events!
November 28, 2010
“Help Find a Cure for
Dystonia” Pub Event
Hazleton, Pennsylvania
January 25, 2011
Joan Rabbiner Memorial
Brunch & Games
Boca Raton, Florida
April 15, 2011
Margaritaville Dance
& Fundraiser
Danvers, Massachusetts
May 10 – 11, 2011
Dystonia Advocacy Day
Washington, DC
August 19–21, 2011
John H. Menkes Children
& Family Dystonia
Symposium
Chicago, Illinois
See “News & Events” at
www.dystonia-foundation.org
for a complete list of events
as dates are confirmed.
WINTER 2010
6
Western Regional Dystonia
Symposium is a Success
No Mean Little Old Lady Sightings in Pasadena
While the Beach Boys once warned folks about the
lead-footed little old lady known to terrorize pedestrians
on Colorado Avenue, the city of Pasadena proved a peaceful and hospitable location for the Western Regional
Dystonia Symposium. The event took place October 1–2,
and attracted over 125 people. The roster of expert
speakers included:
• Devin K. Binder, MD, PhD, University of California,
Riverside & Southern California Center for Neuroscience
and Spine
• Anthony J. DeLellis, Esq, DeLellis & Associates
• Diana Ferman PA-C, Children’s Hospital Los Angeles/
University of Southern California
• Neal Hermanowicz, MD, University of California,
Irvine & Eisenhower Medical Center, Rancho Mirage
• Mary Hudson-McKinney, PT, MS, DPT, NCS,
Western University of Health Sciences, Pomona
• Mark F. Lew, MD, University of Southern California
Los Angeles County + University of Southern California
Medical Center
Dystonia 101
Dystonia can be a confusing disorder to understand.
It never hurts to brush up on the basics:
• Dystonia is a neurological disorder. It affects
the nervous system’s ability to control voluntary
muscle movements.
• Dystonia does not affect smooth muscles,
such as the heart.
• There are many forms of dystonia. It can affect
a single body area or multiple muscle groups.
• Dystonia can exist on its own, or be a symptom
of another neurological or metabolic disorder.
• In primary dystonia, the affected person has no
other neurological symptoms and the dystonia is
known or suspected to be genetic.
• In secondary dystonia, the symptoms can be
attributed to an injury or insult to the brain such
as physical trauma, drug-exposure, or other
diseases/conditions.
• Gail Murdock, PhD, University of Southern California
Los Angeles County + University of Southern California
Medical Center
• People with secondary dystonia often have other
neurological symptoms, some of which may affect
more than just muscle movements.
• Martha Murphy, Dystonia Medical Research Foundation
• Each case of dystonia is classified by: the age
symptoms started, whether it can be classified
as primary or secondary, the body parts affected,
and the presence or absence of other disorders.
• Karen K. Ross, PhD, Dystonia Medical
Research Foundation
• Terence Sanger, MD, PhD, Children’s Hospital
Los Angeles/University of Southern California
• Jan Teller, MA, PhD, Dystonia Medical
Research Foundation
• Treatment options include oral medications,
botulinum neurotoxin injections, surgery, and less
invasive methods such as physical or occupational
therapy and relaxation practices.
The symposium was moderated by California leaders
Martha Murphy (who also serves as DMRF Brain
Bank Liaison) and Kimberly Hough. DMRF Treasurer
Mark Rudolph brought greetings.
• Although stress does not cause dystonia, symptoms
often worsen in stressful situations.
Visit http://www.dystonia-foundation.org for a recap
and scenes from the event.
For more information, visit
http://www.dystonia-foundation.org
DYSTONIA DIALOGUE
SURVEY SAYS:
Dystonia, Doctors, & Care
The Dystonia Medical Research Foundation posted
an anonymous online survey about how individuals
access and perceive care for dystonia. Here are
the results.
3%
8%
34%
7%
18%
29%
3%
16%
34%
What kind of physician is your main
dystonia doctor?
55% - Movement disorders neurologist
34% - Neurologist – Other specialty
55%
8% - Other kind of physician
3% - I do not receive care for my dystonia
What is your impression of how
knowledgeable your doctor is about
dystonia and movement disorders?
46% - Extremely knowledgeable
49%
29% - Sufficiently knowledgeable
18% - Fairly knowledgeable
7% - Not very knowledgeable
How far do you travel to consult
your dystonia doctor?
47% - Less than 20 miles
34% - 20-100 miles
47%
16% - More than 100 miles
3% - More than 1,000 miles
How satisfied are you with the
treatment and care your receive
for dystonia?
23% 26%
26% - Very satisfied
30%
- Moderately satisfied
21%
30%
21% - Fairly satisfied
23% - Not satisfied
Top Three Factors That Influence Doctor Selection:
1. The doctor’s experience treating dystonia and/or
number of other dystonia patients treated at the
office or center
2. Professional reputation of the movement disorders
clinic or medical institution
3. Personality or demeanor of doctor and/or staff
7
Click!
Moments of Clarity
in the Dystonia
Experience
The Break Up
“I have had cervical dystonia
and writer's cramp for five years.
My previous neurologist was lovely, verbal,
and trained in EMG which she used to guide
my botulinum neurotoxin injections. I felt,
however, that I was an experiment every visit.
“Finally one of my friends said to me, ‘Just
because you like your doctor, doesn't mean
you have to keep going back to her.’ It was
the permission I needed to find a specialist
in Boston who has decreased my botulinum
neurotoxin significantly and referred me to
a physical therapist, which no one had ever
recommended before. I am finally home in
my treatment.
“Not all neurologists, however well meaning,
are created equal. It's okay to shop around,
and sometimes it's worth traveling out of
your area to find a true dystonia specialist.
I think the Dystonia Medical Research
Foundation can give people permission to
question whether or not their treatment is
as good as it gets, or can it be improved.”
Pat Whitman
East Providence, Rhode Island
What realizations or moments of clarity
have you had in your journey with dystonia?
What ‘clicked’ for you? Tell us: dialogue@
dystonia-foundation.org
WINTER 2010
8
Balancing Act by the Bay
Deborah Kilpatrick, PhD Uses Her Professional Expertise and Dystonia Diagnosis
to Help Shape the DMRF Science Program
Most week day mornings begin for
Deborah Kilpatrick by riding with
her six-year-old son to school on
their bicycles before continuing her
commute to work. The ride takes
her along the southern coast of
the San Francisco Bay, home to
the largest tract of undisturbed
marshland remaining in the area.
Deborah Kilpatrick, PhD
joined CardioDx in 2006
as Vice President of Market
Development and is responsible
for all facets of market preparation, product marketing, and
reimbursement. Prior to joining
CardioDx she spent nine years
at the Vascular Intervention
Division of Guidant Corporation
where her roles included
Research Fellow, Director
of Research and Technology
Development, and Director
of New Ventures. Deborah
is a Fellow of the American
Institute of Medical and
Biological Engineering. She
holds a PhD in mechanical
engineering with a focus in
cardiovascular bioengineering
from the Georgia Institute
of Technology.
“I’m very fortunate to be able to
bike commute,” explains Deborah.
“The last time I was out of remission I wasn’t able to hold my head
up on a bike. It was a real fight.
And my commute takes me along
the Bay which is really beautiful.”
The lowest moments of Deborah’s
journey with cervical dystonia have
been marked by a complete decline
in her ability to ride her bicycle,
drive a car, or work at a computer
due to the pain and involuntary
movements in her neck. Though
she describes the impact of these
hardships modestly, the memories
remain acute and help fuel the
distinct joy she takes in her regained
mobility and freedom.
In 2007, Deborah made a conscious
decision to commute to work by
bicycle as much as possible, both for
the environmental benefits and because the activity helps relieve stress.
“It centers me in the morning and it
centers me again on the way home.
And my body likes that,” she explains.
•••
Last year marked an important
anniversary: Deborah had reached
five years of living virtually symptomfree from cervical dystonia. This
milestone also came with a certain
trepidation. Since 1991, when her
symptoms began at age 23, Deborah
has had a history of cervical dystonia
interrupted by periods of remission,
each lasting almost exactly five years.
It has now been about six years since
her last botulinum neurotoxin injection, and she is medication free.
“It’s psychologically difficult. I know
if I do too much—too much work or
even too much coffee—the dystonia
could be back. I do my best to view
this as a good thing. It’s a reminder
of how balanced I have to stay in
my life.”
Because her cervical dystonia has been
consistently triggered by stressful
times in her life, Deborah keeps the
disorder at bay by staying in tune
with her body and being mindful
of her work load and stress level.
When symptoms resurface, she
works with a movement disorder
neurologist to relieve the pain and
movements with low doses of
botulinum neurotoxin.
“There have been a couple of recent
instances when my son asks me why
my head is shaking, and it’s so subtle
I’m surprised he picks up on it. So
I have tremors now and then and
problems with some spasms once
in a while but that’s ok,” she shares.
“There are so many patients who deal
with so much more—I try to never
DYSTONIA DIALOGUE
take for granted how extremely
fortunate I am.”
•••
By the time Deborah was diagnosed
with cervical dystonia in 1997, the
internet had made it much easier to
learn about the disorder and available
resources. Her inquiries led her to
the Dystonia Medical Research
Foundation (DMRF), and she
began learning about the organization’s
science efforts.
During a serendipitous phone
conversation with DMRF board
members Dennis and Barbara Kessler,
Deborah shared that her professional
background was in bringing new
medical therapies for cardiac symptoms to market and understanding
the biology behind heart disease. The
Kesslers explained that the DMRF
was beginning to explore opportunities
in not only basic research but also
translational research—research
specifically focused on developing
new treatments.
9
About 10–20% of
people with cervical
dystonia experience a
spontaneous remission.
The remission is
temporary in most
cases but can last
years or decades.
resources as possible toward supporting and growing the field of dystonia.
“I really like devoting energy and time
to things that affect me personally.
It’s very motivating to put my skill
set to use for altruistic good.”
Deborah was elected to the Board
in 2008, and currently serves as
Vice President of Science.
•••
“The fact that the DMRF was
moving to include a translational
approach was attractive. That’s what
I do,” explains Deborah. “I felt I
could bring a perspective that was
unique because of my profession.”
A direct result of the DMRF’s
translational efforts and a project
that Deborah is especially enthusiastic
about is the contract with BioFocus,
a company that specializes in drug
discovery and development. The
DMRF is partnering with BioFocus
to identify new potential drug targets
for dystonia. Identifying targets is a
critical step toward rational drug
discovery and design.
Deborah was invited to be involved
in the Science Committee to help
the DMRF navigate this expansion
into translational research. This effort
would later be named the Cure
Dystonia Initiative. This expansion
into translational research is a milestone along the evolution of the
DMRF Science Program into a more
complete ‘Science Portfolio.’ The
DMRF has created a multi-faceted
plan designed to leverage as many
Projects like the contract with BioFocus
are using the latest advancements in
molecular biology to study disease
in a new way. These developments
are especially relevant to orphan
diseases like dystonia in which there is
a relatively small number of patients
available for clinical and population
studies. New techniques allow scientists
to examine all 30,000-plus genes
that make up a single human being in
search of subtle molecular differences
that may be associated with dystonia.
This approach provides a lot of data
and potential clues from even a
single volunteer.
“It’s actually breathtaking,” Deborah
explains. “The project with BioFocus
looks at this idea that we’re a population with the same diagnosis but
with symptoms showing up in so
many different ways. This project
goes way below the symptom level.
It’s looking at the underlying biology
of patients with dystonia and what
is happening with their DNA and
RNA. It’s at this much deeper level
that we can look at the molecular
differences that drive the disease
and the symptoms that result.”
Deborah explains that the DMRF’s
translational efforts—including the
partnership with BioFocus—are
bringing dystonia research “to a whole
new level that will impact the field
for this decade and decades to follow.
We’re taking critical steps toward
sending research in the right direction.”
•••
The progress Deborah sees encourages
her both scientifically and personally.
“For patients living with a chronic
disease, there’s a constant wish for
an explanation. The knowledge that
the DMRF is out there working for
patients provides hope for finding
that explanation, and I hope this
enables others with dystonia to think
positively for at least a few minutes
each day. I believe in scientific breakthroughs, I have seen them happen
throughout my career. And I know
the scientific leadership at DMRF
is totally focused on making such
breakthroughs reality for dystonia
patients. I am proud to be a small
part of that.”
Continued on page 10
WINTER 2010
10
Continued from page 9
WHAT’S THE DIFFERENCE?
Basic Research – Expands
what is known about dystonia.
Explores the who’s, what’s,
where’s, and why’s of dystonia
and its effects on the nervous
system.
Clinical Research – Examines
how dystonia affects live human
beings: classifying symptoms,
treatment trials, diagnostic
tools such as rating scales.
Translational Research –
Aimed at taking laboratory
findings from basic research
and transforming them into
new diagnostic tools and
treatments.
For all of the personal and professional
qualities that make Deborah an
exceptional, almost uncanny, asset
to the DMRF, her contributions
mirror the careful balance she seeks
in her everyday life. She vehemently
preserves the balance of work and
family, and cherishes the physical
equilibrium her body needs to ride
her bike everyday. Deborah helped
the DMRF achieve a middle ground
between the basic research needed
to better understand dystonia and
the translational work necessary to
focus on new treatments. She balances
her sentiments as a medical technology developer and scientist with the
expectations of someone who knows
firsthand the devastating effects of
living with this disorder. This unique
perspective has helped open up a
whole new horizon against which
the DMRF measures its Science
Program and research goals.
DAN Advocates Travel to
Capitol Hill to Protect
Patient Access to Treatment
By Dane Christiansen, DMRF Grassroots Coordinator
Danielle Haney of North Carolina and her 10-year-old daughter Domanique
were among a select group of Dystonia Advocacy Network (DAN) advocates
who traveled to Washington, DC in August to ensure individuals with
dystonia have access to new treatments. “For us to make this trip was a huge
deal,” explained Danielle. “We were finally able to spin a positive role in
Domanique having dystonia and possibly help others like her.”
In August, the Food and Drug Administration (FDA) approved a new injectable
form of botulinum neurotoxin type A for the treatment of dystonia, called
Xeomin®. Approved medical treatments are assigned billing codes from the
Centers for Medicare and Medicaid Services (CMS) so physicians can be
adequately reimbursed for the products they use. However, for largely bureaucratic reasons, Xeomin® is not scheduled to receive a unique billing code until
January 1, 2012. Until then, Xeomin® will have to use the miscellaneous
billing code which presents barriers to patients accessing the treatment. Many
physicians avoid using products with the miscellaneous billing code because
it takes longer to receive adequate reimbursement, and errors and delays
are common.
Private health insurers typically follow CMS’s lead for their own reimbursement policies, so this is an issue that affects the community at large. Dystonia
patients who currently lack an effective treatment option should not have to
wait until 2012 to have open access to a potentially life-changing therapy. For
this reason, a number of DAN advocates traveled to Capitol Hill in August
to ask key Members of Congress to raise awareness of this issue with CMS
and urge the agency to issue a temporary unique billing code for Xeomin®
while the product awaits its permanent unique billing code. Advocates met
with the offices of the leadership of the House Ways & Means Committee
and the Senate Finance Committee (which have jurisdiction over CMS),
and the leadership of the House Energy & Commerce Committee and
the Senate Health, Education, Labor, & Pensions Committee (which have
jurisdiction over all health issues).
Many legislators have already taken meaningful action, and we remain
hopeful that CMS will address this issue in the appropriate manner. The
DAN, the DMRF, and dystonia advocates remain committed to doing
what is necessary to ensure all individuals impacted by dystonia have
access to all FDA-approved treatments.
See page 16 for 10-year-old Domanique Haney’s impressions of her trip
to Washington.
DYSTONIA DIALOGUE
11
Saddle Up!
Attending DMRF Event Yields
Unexpected Discovery
Ed and Bobbin Holtvluwer have been members and
generous supporters of the Dystonia Medical Research
Foundation (DMRF) since the early 1990s. Their son
Michael was diagnosed with dystonia at age four. The
symptoms began as difficulty walking approximately
a year prior to the diagnosis. The Holtvluwers learned
about the DMRF through Michael’s movement
disorder specialist.
Ed and Bobbin Holtvluwer and their children Michael
and Nichole have been members of the DMRF since the
early 1990s.
In 1999, Ed took 13-year-old Michael to the DMRF’s
International Patient Symposium in Victoria, British
Columbia. One of the activities offered for kids attending
The family—including Michael, Ed, Bobbin, and sister
the event was therapeutic horseback riding. “Michael
Nichole—continue to attend DMRF events, particularly
immediately bonded with the horse and loved the freedom
Children & Family Dystonia Symposiums which are
of movement and rhythm of riding,” explains Ed. The
held every two years. Ed explains that he and Bobbin
activity had such an impact on Michael’s
value these opportunities for “the exchange of
symptoms and demeanor that his parents Ed
“To ride information with families who are experiencing
and Bobbin were determined to find a similar
the same uncertainty and difficulties as we are,
program back home in the Denver area.
a horse is and the opportunity to share the positive events
that make these kids’ lives better. The informato ride
Michael is now 25 and continues to enjoy
tion provided at these meetings is outstanding
therapeutic horseback riding through a
the sky.” and not easily available anywhere else.”
Colorado organization called HorsePower.
~Author
“Its fun, it helps my balance, and it feels
For Michael, the best parts of attending DMRF
unknown
good to exercise and bond with the horse,”
events are “seeing all my old friends, learning
says Michael. He describes his favorite horse
new stuff about dystonia, seeing the service
Molly as “nice, big, gentle, smooth, and sometimes
dogs, and staying in a hotel.”
stubborn. She knows me, and I think of her as a friend.”
Ed explains that being plugged into the DMRF has
“Riding has helped his balance, increased his strength
helped his family cope with the onset and implications
and coordination, and greatly improved his self-confiof Michael’s dystonia. “It just feels good to be part of
dence,” says Ed. “Michael was previously on the quiet
an organization that cares so much about people whose
side, but when he gets on that horse he becomes very
lives have been impacted by dystonia,” he says.
chatty—talks the whole time—and that has carried
over into his interactions with other people.”
Michael and the Holtvluwers have had great success
promoting awareness of dystonia through local news
media, often highlighting how hobbies such as horseback riding and golf actually help Michael cope with
dystonia and reduce his symptoms.
SAVE THE DATE
The next John H. Menkes Children & Family
Dystonia Symposium will take place
August 19–21, 2011 in Chicago, Illinois.
WINTER 2010
12
Social Movements
Meet New Friends Online
Ever wonder if you could meet friends online
who truly understand what it’s like to live
with dystonia? You can! The Dystonia
Medical Research Foundation (DMRF) sponsors a
number of online social forums designed to bring people
together, regardless of geography. Below are just two examples
of the interesting individuals you might meet online.
DEVIN MCCLERNAN
A.K.A. Dystonia Devin
“Since I was 14, I've been
unable to clearly communicate
verbally with anybody, leaving
me feeling isolated often.
However, Facebook gives me
the ability to connect with
people all over the world.
After making numerous
friends who struggle with dystonia, I rarely feel alone
anymore, especially when everyone is a click away.”
Location: California
Interests: Working out, watching movies, boating, sky
diving, restoring classic cars and trucks. Devin is pursuing
degrees in English and film, and preparing for the real
estate license exam. He would also like to pursue a career
in politics and law in the future.
Proudest Accomplishment: “I feel most proud when
someone asks me about my problems and the respect I
get afterwards. Inspiring people is something that makes
me proud.”
Dystonia Diagnosis: Early onset dystonia. Symptoms
began in 1997 at the age of 13. Symptoms began in
the face and tongue and spread to also include the
neck and arm.
Most Helpful Dystonia Treatment: Deep brain
stimulation surgery.
Say hello to Devin by going to http://www.facebook.com
and search “Dystonia Devin.”
LINDA WALKING WOMAN
A.K.A. Linda W. W.
“The Online Dystonia
Bulletin Board offers
individuals support through
a community that understands. Users are there
to offer information or
comfort when needed.”
Location: Connecticut
Activities: After retiring early from teaching at 50,
Linda returned to school and is working on a Master’s
degree in Biology. Her thesis involves studying adult stem
cells. She is also a moderator on the Dystonia Online
Bulletin Board.
Proud Accomplishment: ”I enjoy being the volunteer
webmaster for my tribe, the Lipan Apache Tribe of Texas.
I created a website that I think rivals the best. I pat
myself on the back for this accomplishment since I have
no real training in this and all the programming is done
from scratch.”
Dystonia Diagnosis: Generalized dystonia that responds
to dopamine. Diagnosed in 2002 at age 46 after being
diagnosed with cerebral palsy as a child.
Most Helpful Dystonia Treatment: Parcopa®, a
melt-under-your-tongue dopaminergic medication.
See what Linda and others are talking about
on the Dystonia Bulletin Board by visiting:
http://www.dystonia-bb.org/forums/asd/
DYSTONIA DIALOGUE
Online Social Forums & Sites
You don’t need to attend a local support
group to meet others in the dystonia
community. Check out the following sites
and you may be surprised how easy it
is to make new friends who understand
what it’s like to live with dystonia.
Online Dystonia Bulletin Boards
http://www.dystonia-bb.org
Post your questions about dystonia and
read responses from others in the dystonia
community from around the world.
Facebook http://www.facebook.com
Search “Dystonia Medical Research
Foundation” to get info on DMRF activities
and connect with others. Send us
comments by posting on our wall.
Twitter http://twitter.com/dmrf
Get the latest updates from the DMRF
and see what others in the community
are ‘tweeting’ about.
Ning http://thedmrf.ning.com
Get news from DMRF and share your
stories and questions with others
connected to the DMRF.
YouTube
http://www.youtube.com/cemiwire
Check out videos from DMRF and
others in the dystonia community.
Share your story via video.
DBSforDystonia Yahoo Group
http://health.groups.yahoo.com/
group/DBSforDystonia
This group is for people with dystonia
who have had deep brain stimulation
surgery, or who are considering the procedure and looking for more information.
DMRF Insights
http://dmrfinsights.blogspot.com
Executive Director Janet Hieshetter
blogs about DMRF activities and events.
Occasional guest blogs by dystonia
researchers and others in the DMRF family.
13
DMRF Co-sponsors Grants
with Dystonia Coalition
2010 Career Development Awards Focus
on Treatment Advances & Quality of Life
In August,
the Dystonia
Medical
Research
Foundation (DMRF) announced
the co-funding of two Career
Development Awards as part
of its partnership with the Dystonia Coalition. The Dystonia
Coalition is a National Institutes
of Health-funded collaboration
of scientists, institutions, and
patient organizations formed
to advance the pace of clinical
research for dystonia.
The Dystonia Coalition’s Career
Development Award Program
supports junior investigators in
their pursuit of clinical research
projects relevant to dystonia. The
award is geared toward advanced
post-doctoral clinical research
fellows, senior clinical fellows,
or junior faculty members who
will be independent investigators
within one or two years. The
DMRF supports this program as
part of its ongoing commitment
to encourage and inspire young
investigators to establish careers
in the field of dystonia.
In his project entitled “Sensory
and Emotional Processing in
Psychogenic Dystonia: A
Functional Magnetic Resonance
Imaging Study” Alberto Espay,
MD at the University of
Cincinnati is using functional
magnetic
resonance
imaging
(fMRI) to
look for differences in brain
circuit abnormalities between
patients with primary dystonia
and psychogenic dystonia. This
could lead to the discovery of
biomarkers that distinguish
these two disorders, which
could aid in diagnosis and
guide treatment.
Mateusz Zurowski, MD at
Toronto Western Hospital is
improving upon a dystonia
assessment tool doctors use to
evaluate an individual’s symptoms
by adding measures for emotional
and mental health. Dr. Zurowski
is incorporating psychiatric
measures into the “TWSTRS”
dystonia scale used to evaluate
patients with cervical dystonia
in a project entitled “Dystonia
Coalition – Psychiatric Assessment.” Inclusion of these new
measures will help neurologists
obtain a more complete picture
of an individual’s treatment needs
and more accurately recognize
the effects of emotional and
mental health issues on the
quality of life of people with
cervical dystonia. The results
from this study will lead to
improved treatment and better
outcomes for patients.
WINTER 2010
14
PEOPLE ON THE MOVE
The DMRF is fortunate to have dedicated and creative volunteers around the country who work
tirelessly to promote dystonia awareness and raise funds for research. The DMRF deeply appreciates
every volunteer and every effort.
On May 2 and May 9, Patricia
Bergeron and the Verville Family
organized the 5th Hands for Movement Freedom benefit piano recital
at the Richmond Library in Vermont.
Alexandre Verville, whose diagnosis
inspired this annual concert, played
piano at the recital. Thirty-four pianists
participated, all of whom are students
of Patricia Bergeron. The event raised
over $500!
Andrea Dobis of Illinois honored her
brother Marc by organizing “Jean and
Gym Shoe Day” to support the DMRF
through her employer, Rust-Oleum.
The event raised $1,120 in donations
from Andrea's colleagues matched
by their employer. Read Marc Dobis’
story on page 20.
Kara Wilke of Illinois joined the
Dystance4Dystonia team and trained
to run this summer’s Rock N Roll
Chicago ½ Marathon in honor of her
mother Lauren Wilke who is diagnosed
with dystonia. Her efforts raised muchneeded funds in support of the DMRF
and research.
Wayne Erickson organized the 2nd
Annual Minnesota Dystonia Golf
Classic held at Gopher Hills Golf
Course in Hastings, Minnesota.
Thank you to Wayne and his
committee for making this event
a great success!
Husband
and wife
team
Aaron and
Jessica
Meyer of
Wisconsin
ran the
Madison Mini-Marathon this summer
on behalf of their daughter Emma
who has paroxysmal kinesigenic
dyskinesia. The whole family was
there to cheer them on!
Many thanks to Nancy and Larry
Present for hosting the annual
St. Louis Walk-a-thon in October,
another very successful walkathon
in support of DMRF programs.
“The event was very well executed,”
commented DMRF Director of Development Tammy Reed who attended
the walk. “It’s heartening to see
such dedication from wonderful
volunteers like Nancy and Larry.”
Many thanks to those
who participated in
the DMRF's first
Virtual Dogs4Dystonia
Dog Walk! Dee Linde
and her pooch Lilly
were among those
involved.
In September the Central Jersey
Dystonia Support and Action Group
led by Janice and Len Nachbar and
daughter Joanna Manusov organized
the 5th Annual Dogs for Dystonia
Dog Walk, held at Turkey Swamp
Park in New Jersey. Congrats on five
years of promoting awareness and
raising funds through this unique
and fun event!
Meredith Fain, who
is affected by tardive dystonia,
went the Dystance4Dystonia to bring
greater awareness
and support research
by running the Rock
N Roll Philadelphia
Marathon in August.
Much appreciation
to Jen Cannon for her
run in the Medtronic
Twin Cities Marathon
in October. This is
Jen’s second race on
behalf of the DMRF.
She continues to
go the Dystance4Dystonia!
DYSTONIA DIALOGUE
15
Ed Cwalinski appeared in an article
in the Pittsburgh Post-Gazette
acknowledging the
10 year anniversary
of his deep brain
stimulation (DBS)
surgery for severe
generalized dystonia.
In 2000 Ed was 18
years old and the
youngest dystonia patient ever
to undergo the procedure. Ed had
a terrific response to DBS and
continues to do extremely well.
DMRF board member Donna Driscoll
hosted another terrific golf outing and
awards dinner at the Bretton Woods
Country Club in Germantown, Maryland. The Dystonia Golf & Tennis
Classic and Banquet raised critical
funds for dystonia research and
raised awareness.
Stephanie Kallay and Bradley
Evans, MD of Merz attended the
September 25 meeting of the San
Diego Dystonia Support & Advocacy
Group, led by Martha Murphy.
Dr. Evans is the Senior Regional
Medical Manager based in Phoenix
and Stephanie is the Territory Business
Manager in San Diego. Approximately
30 people attended the meeting.
Josh Rozenfeld of the DMRF New
Jersey Chapter received a 2010
scholarship from the Melissa Anne
Centrella Scholarship Foundation
towards his Ultrasound Tech degree.
Congrats, Josh!
Amazon.com’s bestselling Hardboiled
Mystery is the Kindle edition of the
novel Identity Crisis by DMRF member
and volunteer Debbi Mack of
Maryland.
Three runners in the Chicago Marathon
in October ran to support the DMRF.
Many thanks to Jennifer Molski,
Katie Biedess, and Scott Biedess!
On October 16, “Team Libby”
participated in the Cincinnati Walks
for Kids for the second year to raise
awareness for dystonia and the DMRF.
Team Libby was created on behalf
of Libby Vieson, a six-year-old little
girl living with early onset generalized dystonia, and includes mom
Stephanie, dad Michael, sisters
Morghan and Della, and family friends
Monica Fisher, Debby Kirby, and
Nancy Schneider.
The 1st Annual Alabama Dystance4Dystonia 5K Run & 1-mile Walk was
organized by the Dothan, Alabama
Satellite Dystonia Support Group, a
branch of the Dystonia Support Group
of Alabama. Rebecca Sharp and her
parents Timothy and Virginia Hornsby
spearheaded the planning for this
first time event in honor of Timothy’s
dystonia diagnosis in 2006. The run
raised over $9,000!
Dystance4Dystonia is a program for
volunteers interested in participating
in local marathons, runs, and/or
walks in support of the DMRF.
Dogs4Dystonia Dog Walks are a fun
way to bring family, friends, and the
community together in support of a
good cause. Whether you are a dog
owner, a dog lover, or someone who
just wants to do something for dystonia, organizing a Dogs4Dystonia
Dog Walk may just be up your alley.
For more information about Dystance4Dystonia or Dogs4Dystonia, contact
Tammy Reed, Director of Development
at 312-755-0198 or treed@dystoniafoundation.org
WE WANT TO HEAR FROM YOU!
Please inform us of your activities and events. Email dialogue@dystonia-foundation.org
16
CANDID KIDS
Young People with Dystonia
Field Trip!
Domanique Haney took a special trip to
DMRF: What did you think of your
Washington, DC. She and her mom
trip to Washington, DC?
joined people affected by dystonia
Domanique: My trip was awesome.
from all over the country. They
I didn't say much, but wanted to
met with government leaders to
help. I met a lot of people and
talk about dystonia and making
saw lots of things.
sure people with dystonia
can get the treatments
DMRF: Why is it important for
they need. A member of
people to educate our government
the DMRF staff interleaders about dystonia?
viewed Domanique
Domanique: I think it is important
Domanique traveled to our nation’s capital to
about her trip.
for our leaders to know about
speak with government leaders about dystonia.
dystonia since they have power
DMRF: How old are you and what grade are you in?
to help us. I hope a cure can be found. I hope
Domanique: I am 10 years old and in the fifth grade.
I could make a difference.
DMRF: How does dystonia affect you?
Domanique: I am unable to stay focused in
school. I shake all over. I am embarrassed with
the attention it can cause.
DMRF: What will you remember most about
your trip to Washington, DC?
Domanique: I will remember the people I met.
I really liked seeing the Senate chambers.
Big thanks to Domanique and her mom Danielle for making the trip from
North Carolina to Washington to give the dystonia community a voice!
Twelve-year-old Catherine Mulshine lives in Indiana with her parents and sister. Catherine and her cousin Elizabeth Puntillo
and babysitter Amanda Gore raised $110 for dystonia research by having a lemonade stand. In the photo, Catherine, her
sister Grace, and cousin Elizabeth show off the sign they made for the lemonade stand. Good job, girls!
17
Big Support in Lil’ Rhody
Women Partner to Serve Local Dystonia Community
Three women with
and once Maureen and Sandy
very different dystonia
and I met it just seemed to
experiences have come
fall into place,” says Sue.
together to serve affected
individuals and families
The Rhode Island Dystonia
in Rhode Island and
& Neurological Movement
nearby communities.
Disorder Support Group was
Sue Baron’s teenage son
born. Karen Kerman, MD,
Bryan was diagnosed in
who treats children and adults
2007 at age 12; Sandy
with movement disorders,
Travassos was first
agreed to be the group’s
diagnosed with bleMedical Liaison. Dr. Kerman
pharospasm in 2006 and
is Medical Director of Pediatric
a year later was diagnosed
Rehabilitation Services at
Sandy Travassos, Maureen Zangwill, Paula Schneider
with cervical dystonia and (front row), Sue Baron, and Dr. Karen Kerman (back
Hasbro’s Children’s Hospital,
spasmodic dysphonia/
Providence, Rhode Island.
row) partnered to create a DMRF support group.
laryngeal dystonia.
Maureen Zangwill has lived with cervical dystonia for
Sandy explained, “We make a good team. Each of us
26 years.
handles different tasks, so when we run into problems,
we have each other to work them out.”
“I think we all realize how important it is for people to
have a support group to help them find information and
The Rhode Island Dystonia & Neurological Movement
have a better life,” says Maureen. “None of us are alone
Disorder Support Group held its first meeting in September,
in this dystonia journey.”
and 35 people attended. Sue explains, “There were a lot
of people out there looking for support—more than what
Sandy shares, “After my diagnosis, I was relieved that it
I had imagined.” Dr. Kerman made a presentation on
had a name, but it was very hard for me. I had the support
dystonia, and Paula Schneider brought greetings from the
of my husband and children, but I needed to find
DMRF. Mark Morin of Allergan also attended.
someone who was dealing with the same thing.”
“The attendance, Dr. Kerman's presentation, and the
The trail that led Sue, Sandy, and Maureen to find each
way people were connecting with each other and how
other began on the internet. When Sue and husband
open they were about their lives with dystonia—it was
Cliff learned their son Bryan was a candidate for deep
great!” says Maureen.
brain stimulation (DBS) surgery, Sue reached out to
Dee Linde, leader of the DBS for Dystonia Yahoo Group
Sue encourages others in the dystonia community to get
online. Dee contacted Dystonia Medical Research Founinvolved in area support groups—or to consider starting
dation (DMRF) Leadership Chairperson Paula Schneider
a group if there isn’t one nearby—“because we need to stay
on Sue’s behalf to connect the family with others in New
connected, we need information. Dystonia is a difficult
England. Paula then put Sue in touch with Sandy in
diagnosis and without support you just feel so lost in
Rhode Island and Maureen in Massachusetts.
the world.”
“We all talked on the phone a few times, first with Paula
and the DMRF, to see if we were all on the same page,
Interested in starting a support group? Call 800-377-DYST
(3978) or email dystonia@dystonia-foundation.org
WINTER 2010
18
Magic Straws, Dystonia Angels
& Never Giving Up
Learning to Treat My Dystonia
By James A. Gianelli, Esq.
It was 2002, and I was
that botulinum neurotoxin injections were used to treat
giving a speech in front of
some other focal dystonias, but that my best option was
about 40 executives when
to continue using my magic straw.
I noticed a ‘twinge’ in the
corner of my mouth. It got worse as the
In 2003 I attended a dystonia conference,
speech progressed, and by the end of my
and during a question and answer session
talk I wondered what in the world was
with three specialists, asked—with my
Oromandibular
happening to me. As the days passed,
magic straw in place—if there was any
dystonia:
the condition became more noticeable,
real hope with botulinum neurotoxin for
Dystonia that
resulting in spasms and contractions of
oromandibular dystonia like mine. One
affects the face,
my mouth muscles, first on one side and
doctor matter-of-factly stated that, no,
mouth, jaw, and
then the other. I was losing control of
botulinum neurotoxin had very limited
sometimes
my ability to speak.
success in this type of dystonia. Shortly
thereafter I bolted from the conference,
tongue. May
I am an estate planning and business
found an isolated spot to sit, and wept.
be called
attorney. I rely on talking with my clients
The verdict was in: I would lose my career,
cranial dystonia.
and giving speeches for a living. Was my
my ability to meet new people, my ability
mouth beginning to wear out from over-use?
to interact in the world, and there was not
I began to panic, a little at first and then a
a thing I could do about it. While I was
lot. My work day was cut to only three hours of seeing
busy having this pity party, a ‘dystonia angel’ appeared
clients, I went on part-time disability, and seriously
(the first of many). Glen Estrin, founder and leader of a
considered becoming a recluse. By the end of the day
group called Musicians With Dystonia, sought me out
I would be unable to speak to anyone, even my wife,
and told me there was hope. He told me of a physician
due to the pain. I tried ice, heat, massage, acupuncture,
in New York City named Dr. Steven Frucht who was
chiropractic, meditation, Chinese herbs, supplements,
having some success with botulinum neurotoxin injections
you name it. Nothing helped, except one thing: The
for musicians with oromandibular dystonia.
casings that my acupuncturist used to hold his needles,
when inserted in my mouth like a toothpick, helped
I flew to the Big Apple, got injections, waited the
me immensely in my ability to speak. For some reason
mandatory three months, and flew back for more. The
it minimized the spasms. But I continued to get worse.
injections had very mixed results. And flying to New
My speech was painful and contorted even with the
York City every three months was not very practical or
‘magic straw,’ and my life—my very identity—all of
affordable. Dr. Frucht explained that some people with
it was being lost to this strange disorder.
oromandibular dystonia had experienced relief with the
•••
use of retainer devices. He suggested I see an orthodontist
I was diagnosed with oromandibular dystonia at a major
there in New York by the name of Dr. Michael Gelb.
movement disorder center. The doctors prescribed several
Dr. Gelb experimented with a rough retainer device that,
medications that did not help. They casually mentioned
amazingly, allowed me speak almost without contortions
DYSTONIA DIALOGUE
19
SENSORY TRICK
A phenomenon where some individuals with dystonia can temporarily reduce symptoms by a
certain gesture or touch. Examples include a person with cervical dystonia placing a finger
gently under the chin to straighten the head, or a person with oromandibular dystonia
placing a toothpick in the mouth to reduce symptoms in the jaw and face.
for an entire minute or so, after which my mouth
reverted to its convulsions. There was hope born inside
me, and I was bound and determined to treat my
condition with a combination of my new tools:
botulinum neurotoxin and retainers.
course of action. You will have to experiment. Do not
ever give up, even when the odds seem stacked against you.
3. Attitude is critical.
At first I asked: Why me? Now I ask: Why not me?
•••
I enlisted the help of a local orthodontist who worked
closely with me in developing, over the course of a
couple years, a successful Crozat device, braces, and
retainer program, all of which led to my increased ability
to speak. I also located a local ear, nose, and throat
physician experienced with cosmetic applications of
botulinum neurotoxin who was willing to work with me
to find the appropriate injection sites and doses for my
symptoms. After years of trial and error, the combination
of orthodontics and botulinum neurotoxin began to
work like a charm. I am now able to talk eight hours
per day, as many days per week as I want, without pain,
without contortion, and without people even noticing
anything other than perhaps that I wear retainers. I feel
I have a program that will work for me for the rest of
my career if not the rest of my life.
The lessons I have learned in my journey with dystonia,
and that I believe are relevant to all of our experiences,
are simple:
1. You must be in charge of your treatment.
Your doctor is, of course, a critical element to your care,
but you are the expert on your symptoms. Your doctor
can only be as good as you allow him/her to be through
your communication and input.
2. You must be tenacious, persistent, and creative in
determining the course of your treatment.
Your treatment must be customized to your situation, and
you must work with your doctors to determine the best
4. Don’t isolate!
How can your dystonia angels find you if you keep
yourself hidden? Get connected. There are opportunities
to reach out via the internet, conferences, support groups,
and newsletters.
This article is dedicated to all of my dystonia angels,
only a fraction of whom are mentioned. They helped
me realize that if I persisted and was creative, I would
ultimately prevail, not by curing the dystonia, but by
improving the symptoms and integrating dystonia
into my lifestyle.
James A. Gianelli practices in Sonora, California. He
received his JD from McGeorge School of Law in 1979
and his Masters in Law in Business and Taxation (LLM)
from McGeorge School of Law in 1984. He became certified
as a Specialist by the State Bar of California in Estate
Planning, Trust and Probate Law in 1995.
For a detailed account of Jim’s two-year period of trial
and error to find the right retainer and schedule of
botulinum neurotoxin injections, view his video journal
at http://www.youtube.com/watch?v=b9roso9B1F0.
The full-length version of this article can be found at
http://www.dystonia-foundation.org
WINTER 2010
20
My Life with Dystonia
The following article is an excerpt from Marc Dobis’ memoir essay, My Life
with Dystonia. Marc began developing dystonia symptoms around the age
of eight. It began as a tremor in his hands that quickly eroded his ability to
hold a fork, button a shirt, throw a football, or strum his guitar. Even as
Marc’s symptoms spread up into his neck, his uncle, who was the family
pediatrician, insisted nothing was wrong.
Marc survived years of misguided counseling, the threat of a mental
institution, and the overwhelming task of trying to grow up inside a body
Marc Dobis was diagnosed
he couldn’t control. The dystonia diagnosis came at age 18 after Marc's
with dystonia at age 18,
after a decade of escalating
parents (primarily his mother) networked with everyone they knew in the
symptoms.
medical field to try and help their son. After that things slowly started to
turn around. By the age of 21, Marc returned to studying music, which he loved. Medical treatment
allowed him to experience over a decade of relative peace and normalcy. Unfortunately, the dystonia
was always present, waiting for the opportunity to resurface.
It became very apparent to me that I
would never be in a normal body,
but that was okay because at least
now I was able to function. After
the surgical procedure at age 20 and
through extensive rehabilitation for
the next year, I noticed there were
improvements to my walking, my
cervical dystonia/torticollis, and some
of the use of my arms and hands.
Life was fairly stable for me, but by
the early to mid 1990s, the dystonia
was beginning to raise its ugly head
again. The movements were getting
worse. I was losing physical control
of myself again. I had been working
full time for a dozen years, was leader
of my own working band, and had
a steady girlfriend. Why would this
creep up on me again after I had
tasted a better quality of life?
The immediate thought of going
through another surgery at this
“I would never be in
a normal body,
but that was okay.”
point was indeed devastating, but I
had to do something because it was
affecting my quality of life again.
My previous doctors had passed
away or moved out of the country.
I didn’t know anybody else in this
field. My family was aware of my
current condition and was very supportive. My sister contacted the
Dystonia Medical Research Foundation and got a list of neurologists in
the area.
One particular doctor stood out as
a favorite among his patients and
was director of a major movement
disorder center. An appointment
was made for May of 1995. I now
had a doctor who was up on all the
latest medical treatments for dystonia
and also had compassion for his
patients. That was very important
to me from past experience with
doctors. He remains my doctor today.
Over the last 14 years, we tried a
number of treatments and medications. The treatment that has been
most beneficial to me so far is
Botox® injections.
I have been on Botox® injections for
about 10 years now. I am currently
receiving a maximum dosage. The
problem at this point of my life is the
results are not always the same and are
not lasting the three months between
appointments. One treatment may
help me physically for a while and
another is limited at best. It does
eliminate some of the pain, especially
right after I receive the injections.
Today, at age 52, I have a continuing
day-by-day battle with my dystonia.
When I wake each day, I know
DYSTONIA DIALOGUE
almost immediately if it is going
to be a good or bad day in dealing
with the movements. Primarily,
my cervical dystonia/torticollis and
walking dictate how well the day is
going to be. My head and neck still
tilt back, primarily when I’m walking,
because the torticollis is more aggressive when I am in motion. My right
wrist still locks up at times, and I
deal with involuntary spasms in my
right arm. Although affected, my left
arm seems to have stabilized with
less severe symptoms than before.
I stopped playing music eight years
ago because the physical pain of
playing finally outweighed the enjoyment. When I use a computer, I
primarily use my left hand to type,
so I barely need to hand write
anything anymore, except to sign
my name on a document or check.
This battle with dystonia comes
into play in all aspects of my current
life. Some days I push myself to
the limit just to get through my
day. It is still a tough existence, but
thank God it is better than what
I experienced growing up.
My dystonia is painful, nagging,
and still uncontrollable. It is better
now then when I was at my worst.
I have accepted this fate as part of
my being. I try to keep as good an
attitude as possible because the
movements do get worse when I am
stressed. I have a supportive wife
and family. I love and respect myself
as a person and feel that I deserve
to be here. I know that I make and
have made a difference in the lives
of the people who I love and care
for. I think that is the drive that
keeps me going.
21
Living in the Moment
Practice Mindfulness to Reduce Stress
By Karen K. Ross, PhD, DMRF Vice President of Support
While stress does not cause dystonia, feelings of anxiety
can certainly make symptoms worse. Taking a few
moments each day to focus on relaxation can improve
your overall well being and may help keep dystonia
symptoms under control.
Mindfulness the practice of living in the present moment.
Mindfulness meditation is a practice that uses focusing on the
breath as a way to calm the mind and body. The primary focus is your
breathing. However, the primary goal is
maintaining a calm, non-judging
awareness, allowing thoughts and
Relaxation CDs for
feelings to come and go without
Dystonia Community
getting caught up in them.
Vice President of Support
Karen Ross, PhD has created
two original relaxation programs
Here are the basic steps of mindfulness
available on CD specifically for
meditation:
the dystonia community:
• Sit or lay comfortably, with your
eyes closed and, if possible, your
• Calming the Body,
spine reasonably straight.
Calming the Mind
• Mindfulness Meditation
• Clear your mind and direct your
for Stress-Reduction
attention to your breathing. Observe
your natural breath without trying
Both CDs are available for
to change it.
purchase at www.dystonia• When thoughts, emotions, physical
foundation.org. See the
feelings, or external sounds occur,
pull-down link “I need to…”
and select “Order Materials.”
simply acknowledge them and let
them go without judging or getting
involved with them.
• When you notice that your attention has drifted off and your mind becomes engaged in thoughts or feelings, simply bring it back to your breathing and continue.
• Start by trying to meditate for 3-5 minutes, and gradually try to progress
to 20-30 minutes.
• It's natural for thoughts to arise and for your attention to follow them.
No matter how many times this happens, keep bringing your attention
back to your breathing.
For additional relaxation and meditation practices to combat stress and
feelings of anxiety, visit http://www.dystonia-foundation.org under
“Living with Dystonia.”
WINTER 2010
22
Dystonia on the Green
Golfers with the Yips May Have Focal Dystonia
Why is Studying Golfer’s
Dystonia Important?
• Certain dystonias make good
models to help scientists
better understand all forms
of the disorder.
• Task-specific, focal dystonias
such as golfer’s dystonia and
musicians’ dystonia occur only
when an individual attempts a
specific series of movements.
This provides clues about how
the brain functions under the
influence of the disorder.
• Task-specific, focal dystonias
reinforce the belief that dystonia is a ‘circuit’ disorder,
meaning that the problem
lies in how the brain learns
to coordinate a movement
or task.
It’s the sort of thing than makes even the caddy cringe: A golfer is poised on
the green, about to make the kind of short putt he could easily do in his sleep,
and inexplicably blows it. And no one is more baffled by the missed shot than
the putter himself. What happened?
‘Yips’ is a term used by golfers to describe an involuntary jerking, twitching,
freezing movement usually when putting or chipping. The cause of the yips
remains unclear. Most golf instructors, sports psychologists, magazine articles,
and the golfing public think that it is a form of ‘choking’ or psychological
disorder. This is very similar to how many types of dystonia were viewed for years.
A group of researchers believe that yips may be a form of focal, task-specific
dystonia: golfer’s cramp. This would be similar to writer’s cramp or musician’s
dystonia but affecting golfers. It is well known that stress and anxiety worsen involuntary movement symptoms in many individuals with dystonia, so the fact that
the yips occurs mainly in tournament or other pressure situations is not surprising.
Charles Adler, MD, PhD from Mayo Clinic Arizona led a study with
colleagues John Caviness, MD at Mayo Clinic and Debbie Crews, PhD,
Marco Santello, PhD, and Kanav Kahol, PhD at Arizona State University.
They studied 50 golfers, 25 complaining of the yips and 25 not complaining
of the yips, on an outdoor putting green at Arizona State University.
• Rehabilitative and physical
therapy methods are being
tried to ‘re-train’ the nervous
system to complete tasks
without symptoms.
Identifying possible cases of dystonia among the group of yips-affected golfers
required a meticulous approach: Prior to performing any putts all golfers
completed anxiety and compulsive behavior questionnaires and the results did
not differ between groups, meaning the group with the yips was not more anxious
or obsessive compulsive. The golfers performed 70 putts of different lengths
and breaks. The analysis was of the 20 six-foot straight putts. The average
number of putts made was no different between groups but the distance
that the yips-affected golfers missed their putts was significantly greater.
• Lessons learned from these
dystonias may be relevant
to treating primary and
secondary dystonias.
While putting, golfers wore a Cyberglove, a device that measured movements
at 18 different joints of the wrist and fingers as well as electrodes pasted on the
forearm to monitor muscle contractions.
Dr. Adler and his colleagues concluded that there is likely a subset of golfers
who have a true focal dystonia or golfer’s cramp. These golfers complain of the
yips (i.e. they recognize a loss of control of their putting), have visible jerks or involuntary wrist movement while
putting, and have a pattern of movement that differs from other golfers.
Further research in identifying golfers that have golfer’s dystonia, and then research in treating these golfers is
needed. It is expected that research on the yips and golfer’s dystonia will not only help golfers but will also contribute
significantly to helping musicians and individuals with dystonia, especially task-specific forms.
DYSTONIA DIALOGUE
23
PERSONAL PROFILE
Meet Heather Goraj
Heather Goraj is 36 years old and lives in Swedesboro, New Jersey.
She is a teacher and has lived with secondary dystonia for five years.
How did your symptoms begin and what is your diagnosis?
I was diagnosed with dystonia in 2005 following brain surgery. The official
diagnosis is generalized dystonia secondary to a Chiari malformation and
essential tremors. I was 31 years old and five months into a brand new teaching
career when I was hit with this news. I have spent the last five years learning
how to live with dystonia.
How do your symptoms affect you?
Intrathecal Baclofen
Therapy
(The Baclofen Pump)
• Baclofen is a medication
used to treat spasticity
and dystonia.
My entire right side is riddled with rigidity and spasticity. My left arm and the
left side of my face are spastic. My face drops on the right side, my neck bends
and snaps back and forth feverishly when I am in the throes of a spasm. My
speech is affected and the spasms in my neck have caused disk herniations and
the wearing away of part of my vertebrae. My right leg drags behind me and
spasms force me to often lose my balance and fall.
• Taken orally, high doses of
baclofen may cause intolerable side effects. A surgically
implanted baclofen pump
delivers the drug directly to
the spinal fluid, and only
small doses may be needed.
What has helped you the most, medically?
• Intrathecal baclofen
therapy is an adjustable
and reversible treatment.
The relationship you develop with your doctors is crucial. After a variety of
doctors and a mishmash of treatments I finally found the doctor that I have
been with for over a year. My doctor understands what my goals are and he
works to help me meet those goals medically. When I am having trouble he
responds quickly. Instead of telling me what to do he gives me options and
includes my husband in the information and decision-making process. I now
have a system in place that works. I have an implanted intrathecal pump that
delivers baclofen and morphine to my spinal cord. I still take some oral
medications such as levodopa and carbidopa and medication for pain.
What have you learned from living with dystonia?
• It has been used for children
and adults with primary
and secondary generalized
dystonia and hemidystonia
who respond to oral baclofen.
• Intrathecal baclofen may be
more effective for treating
secondary dystonia than for
primary dystonia.
I have ultimately come to peace with the fact that I will live with this disorder
for the rest of my life. This difficult road has made me realize what it means to
appreciate every second that I feel good, appreciate the extended hand from my husband when he knows I’m having
a difficult day, appreciate my co-workers who ask if I need a ride to work or a break to catch my breath, appreciate
my doctor who respects that I know what I need, gives me the options, and slows down to my pace when I can’t
form my words because of a spasm. I appreciate myself for the strength I muster every day.
My husband Tom has been the most supportive and helpful rock in my life. We have taken the vow for better or
worse to a new meaning. I am living the best life that I can live with this disorder. I may have dystonia, but I will
never let it have me.
Dystonia Dialogue
Dystonia Medical Research Foundation
One East Wacker Drive • Suite 2810
Chicago, Illinois 60601-1905
PHONE 312 755 0198 • FAX 312 803 0138
EMAIL dystonia@dystonia-foundation.org
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twitter.com/dmrf • dmrfinsights.blogspot.com
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“You must pay taxes. But there's no law that says you gotta leave a tip.”
~ Morgan Stanley
By making a donation to the Dystonia Medical Research
Foundation, you are making a difference in the lives of all who
are affected. Your gift supports the mission to advance research
for more effective treatments and ultimately a cure, to promote
awareness and education, and to support the well being of
affected individuals and their families.
For residents of the United States, your charitable donation is
deductible within the year it is given and per the guidelines of the
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For more information about the tax benefits associated with your charitable gift,
please visit http://www.irs.gov and/or consult with a tax professional.