Dystonia Dialogue - Dystonia Medical Research Foundation

MAGAZINE OF THE DYSTONIA MEDICAL RESEARCH FOUNDATION | WINTER 2013 | VOL. 36 • NO. 3
Dystonia Dialogue
Join the global effort to find a cure.
resear c h
support
awa r eness
hop e
12
DMRF Partners with
Expert Clinicians to Update
Dystonia Definition
and Classification
with
16 Interview
Dystonia Expert
Stanley Fahn, MD
about
18 Q&A
Deep Brain
Stimulation
Inside This Issue
4
DMRF Announces “DIY” Dystonia Awareness
Contest Winners
Find Out Who Submitted the Most Creative Awareness Idea
12
What is Dystonia?
DMRF Partners with Expert Clinicians to Update
Dystonia Definition and Classification
18
Questions & Answers: Deep Brain Stimulation
Get the Latest Information on This Treatment for Dystonia
20
Meet Our Volunteer Leaders
Support Group Leaders and Online Moderators
are Lifelines to the Dystonia Community
23
Personal Profile
Meet Susan Zimmerman
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:
The Dystonia Medical Research Foundation (DMRF) is a
leader in dystonia research, collaborating with partners
around the world toward improved treatments and a cure.
The DMRF seeks to support not just individual projects,
but to stimulate the entire field. For nearly 40 years, the
DMRF has expanded science’s understanding of dystonia
by engaging the most knowledgeable and talented
researchers. The DMRF leaves no stone unturned that
may accelerate our efforts to provide relief for affected
individuals and families.
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 • 800 377 3978
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
Debbie Durrer
Director of Development
Jessica Feeley
Editor and Special Projects
Julie Mack
Administrative Coordinator
Martha Murphy
Brain Bank Liaison
Emma Pinto
Development Associate
Jody Roosevelt
Science and Technology Manager
Jan Teller, MA, PhD
Chief Scientific Officer
Dystonia research has progressed to the extent that even the medical language
used to describe dystonia needed an update. Read about the DMRF’s role in
drafting a revised dystonia definition and classification system—and what this
development means for patients—on page 12.
Partial support of the Dystonia Dialogue is provided by educational grants from Allergan, Inc.
and The Medtronic Foundation.
Printed in the USA.
© Dystonia Medical Research Foundation
DYSTON IA DIA LOGU E
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Foundation Update
Dear Friends,
ART KESSLER
PRESIDENT
JANET L.HIESHETTER
EXECUTIVE DIRECTOR
Every day we are amazed and humbled by the members of our DMRF family. It may be a
small comfort but, when you’re diagnosed with dystonia, you find yourself in good company.
The individuals and families who support the DMRF continually inspire us with their
resilience and generosity.
We wish to take a moment to applaud the DMRF’s support group leaders and online forum
moderators. This summer, the DMRF welcomed volunteer leaders to a Leadership Conference
in Chicago, Illinois over the weekend of August 2–4. The purpose of the meeting was to provide
these dedicated volunteers with the resources they need to serve their members and to seek
feedback on how the DMRF can best support them in their essential roles as liaisons to affected
individuals and families. The meeting was enormously productive, generating wonderful new
ideas that the DMRF is acting upon in the remainder of this year and into the next. You can
read more about the Leadership Conference on page 5.
The DMRF’s volunteer leaders are motivated to support others by their own stories. Without
exception, our support group leaders and online forum moderators have a personal connection
to dystonia: either they or a loved one are affected. Very often, their goal is to make sure other
families do not face the setbacks and heartbreaks they have experienced at the hands of the
disorder. Support leaders provide a lifeline to the newly diagnosed. They offer those who are
living in isolation a sense of belonging and an invitation to join the fight against dystonia.
Our volunteer leaders are among the dystonia community’s heroes, as vital as the doctors
who provide care and the researchers working toward a cure.
If there is a DMRF support group in your area, we encourage you to attend a meeting. If
you would like to start a support group in your region, the DMRF is happy to discuss the
possibilities with you. If you have internet access to a DMRF online support forum, we invite
you to join. Please take advantage of the wonderful resources that our volunteer leaders can
offer. You can find contact information and links for all DMRF support resources online at
www.dystonia-foundation.org
We remain grateful to all of you for your support. Thank you for being a part of the DMRF.
Sincerely,
Art Kessler
President
Janet L. Hieshetter
Executive Director
WINTER 2013
4
Dystonia 101
Dystonia can be a confusing disorder to understand.
It never hurts to brush up on the basics:
DMRF Announces “DIY” Dystonia
Awareness Contest Winners
Shayla Anthony Recognized for
Most Creative Awareness Idea
• Dystonia is a neurological movement disorder.
It affects the 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.
• Each case of dystonia is classified by the clinical
features and what is known about the cause.
• In cases of isolated dystonia, dystonia is the only
movement symptom present, with the exception
of tremor.
• In cases of combined dystonia, dystonia occurs in
combination with other movement symptoms such
as myoclonus or parkinsonism.
• Inherited dystonias are those with a proven genetic
origin, for example mutations in the DYT-designated
genes such as DYT1, DYT5, or DYT11.
• Acquired dystonias are due to a known specific life
event or series of events, for example birth injury,
drug exposure, brain injury, infection, and other factors.
• People with acquired dystonia often have other
neurological symptoms, some of which may affect
more than just muscle movement.
• Many cases of dystonia are idiopathic, meaning that
there is no identifiable cause. Many of the focal dystonias that occur in adulthood fall under this category.
• Treatment options include oral medications, botulinum
neurotoxin injections, surgery, and less invasive
methods such as physical or occupational therapy
and relaxation practices.
• Stress does not cause dystonia, but symptoms
may worsen in stressful situations.
For more information, visit
http://www.dystonia-foundation.org
Shayla Anthony
is a dystonia
awareness
all-star.
The DMRF is proud to announce
the winners of the “Do It Yourself ”
Dystonia Awareness Contest, which
was launched in June. The DMRF
received so many creative, wonderful
entries that the voting was very difficult.
Thank you to everyone who participated and shared the fun and creative
ways you are promoting dystonia
awareness in your communities.
Every effort makes a difference!
Congratulations
to our winners:
Most Creative
Dystonia
Awareness Idea:
Shayla Anthony
Shayla created hand-made dystonia
Pittsburgh, PA
awareness decals for her vehicle and
laptop, which she uses to spread
Shayla named her
the word wherever she goes.
wireless hot spot
“Dystonia Awareness”
to reach people looking for free wi-fi and created
hand-made vinyl dystonia awareness decals for her
vehicle and laptop. Shayla is a co-leader of the Western
Pennsylvania Dystonia Support Group and has two
children who are diagnosed with dystonia.
Random Drawing for DMRF
Awareness Merchandise:
Auriana Vail, Ashland, Virginia
Auriana Vail of Ashland, Virginia is a
recent high school graduate who began
experiencing symptoms in her hands in
fourth grade. She was diagnosed with dystonia in the
eighth grade, and within two years was unable to walk.
A year ago, Auriana had deep brain stimulation, which
dramatically improved her ability to walk and be active.
She was able to walk across the stage at her high school
graduation and no longer depends on a wheelchair.
DYSTON IA DIA LOGU E
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Volunteer Leaders Gather in Chicago
for 2013 Leadership Conference
DMRF President
Art Kessler thanked
participants for their
vital role in providing support to fellow
individuals and
families impacted
by dystonia.
On August 2–4, 2013 the DMRF hosted a
Leadership Conference in Chicago, Illinois
for support group leaders and online forum
moderators. Participants heard from a variety
of speakers and participated in group discussions on the many facets of serving as a
volunteer support leader. It was a wonderful,
productive weekend, and the DMRF is
privileged to work with such an impressive
network of volunteers. The Planning Committee, chaired by Leadership Chairperson
Paula Schneider, did an outstanding job of
building the program: Sue Baron, Ginny
From L to R, Pat Croll, Denise Gaskell, and
Whitney Jory shared the highlights and challenges
Bryan, Denise Gaskell, Denise Gibson,
of being volunteer leaders.
Martha Murphy, and Len Nachbar.
Leadership Chair Paula Schneider served as Mistress of Ceremonies throughout the weekend.
Dee Linde served as our volunteer photographer. Special thanks to all of our outstanding speakers:
• Ginny Bryan, 20/30 Dystonia Group
• Pat Croll, Central Oregon Dystonia Support Group
• Debbie Durrer, Director of Development
• Alyssa Dver, Confidence Consultant, Author,
Dystonia Parent
• Margie Frazier, PhD, LISW-S, Executive Director,
Batten Disease Support and Research Association
• Denise Gaskell, Cervical Dystonia Support Forum
• Janet Hieshetter, Executive Director
• Whitney Jory, San Francisco Dystonia Support Group
• Art Kessler, Board of Directors, President
• Jan Teller, MA, PhD, Chief Scientific Officer
• Dee Linde, Portland, Oregon & Southwest Washington
Dystonia Support Group and DBSforDystonia Online
Bulletin Board
• Billy McLaughlin, Board of Directors, Awareness
Ambassador, Minnesota Dystonia Support Group
• Len Nachbar, Central Jersey Dystonia Support
& Action Group
• Marcie Povitsky, 20/30 Dystonia Group
• Karen Ross, PhD, Board of Directors, Vice President
of Support
• Rebecca Sharp, Dothan, Alabama Dystonia
Support Group
The discussions that took place at the meeting generated a wealth of recommendations for new resources and programs
to support volunteer leaders. The DMRF is working to implement these recommendations during the remainder of
the year and into 2014.
Stay in Touch
Get the latest information from the DMRF by signing up for monthly updates at http://ow.ly/hVnpw
or visiting www.dystonia-foundation.org. Or follow us on Twitter and Facebook.
WINTER 2013
6
Billy McLaughlin to Live
Stream Benefit Concert
When Emmy award-winning guitarist and composer Billy McLaughlin takes
the stage January 24, 2014 in San Diego, audience members who can’t make
it to the concert hall will be invited to enjoy the show through a live-stream via
the DMRF website. “Streaming for Dystonia – Billy McLaughlin in Concert,”
is the second of Billy’s benefits to be made available to fans and supporters
online thanks to the partnership San Diego State University, the site of the
performance. Proceeds will benefit dystonia research and DMRF programs.
Billy McLaughlin is recognized internationally as an innovative world-class
acoustic guitarist, composer, and producer. Diagnosed with focal dystonia,
he launched a remarkable comeback as a left-handed performer, which was
documented in the film Changing Keys - Billy McLaughlin and the Mysteries
of Dystonia (2008). He is a five-time Minnesota Music Award winner with
12 CD releases and Billboard Top-Ten Chart history. His stage experience is
extensive, including 15 years of national touring as well as stops in Japan and
Europe. Among his many honors, Billy was recently awarded an Emmy by
Fans can watch Billy McLaughlin’s
the National Academy of Television Arts and Sciences Pacific Southwest
upcoming DMRF benefit concert inChapter in the category Musical Composition/Arrangement for his
house or online. Photo by Ryan Taylor.
performance of "Billy McLaughlin: Starry Night with Orchestra Nova,"
which first appeared on KPBS San Diego and is being televised on public
broadcasting stations nationwide including Twin Cities Public Television. Billy co-leads the Minnesota Dystonia
Support Group, serves as the DMRF Awareness Ambassador, and is an ex officio member of the Board of Directors.
“Streaming for Dystonia – Billy McLaughlin in Concert” is a live, two-set solo guitar performance to take place Friday, January 24 at
Smith Recital Hall San Diego State University at 7:30 pm. Tickets are $25 to attend, and $10 to view the first set by live stream. Stay
tuned for more information by signing up for DMRF email alerts at http://ow.ly/hVnpw or visiting www.dystonia-foundation.org
Volunteers Needed for Research
Volunteers with focal hand dystonia are needed for a study at the National Institutes of Health (NIH) Clinical
Center in Bethesda, Maryland. The study will use a technique called transcranial magnetic stimulation to
examine the brain circuits involved in focal hand dystonia, also known as writer’s cramp.
Volunteers must be between the ages of 18-60 and right-handed, among other parameters. Compensation
for time and travel is available for approved candidates. To learn if you may be eligible or for more information,
visit: http://tinyurl.com/o2ogpja. Or contact Patient Recruitment and Public Liaison Office at 800-411-1222
or prpl@mail.cc.nih.gov
Questions about Research?
Do you have a question about dystonia research that you would like the DMRF to address in the Dystonia
Dialogue? Email your research questions to dialogue@dystonia-foundation.org
7
CANDID KIDS
Young People with Dystonia
Siblings Educate Schoolmates on Dystonia
When nine-year-old Malachy Connors grows up,
he wants to be a scientist and find a cure for
dystonia. In the meantime, he and his eightyear-old brother, Abel, take every opportunity
to promote awareness. The boys’ mother, Trista
Connors, and their four-year-old sister, Alice,
were recently diagnosed. “Dystonia has a huge
effect on our family,” explains Trista, “and we
have discussed it openly with all of our children.
The boys want a cure because they want their
mom and sister to not suffer. Malachy will go
up to people in the store who are staring or
whispering, and tell them we are not ashamed.
He will hand a stranger a DMRF tri-fold card and
say if they have questions there is a website
on the card.”
Recently, Malachy and Abel each read Never
Look Down by Alyssa Dver and Zachary Weinstein
out loud to their classmates at school and
answered questions about dystonia. Their presentations inspired more children to share their
experiences with illnesses in their families.
Then the boys approached the school librarian
for permission to create special section in the
library about illnesses. She loved the idea and
now the library has a special collection of books
on disorders and diseases.
“I can’t deny I am extremely proud of them!”
says Trista. “I couldn’t imagine anyone better
to explain what it means to live with dystonia or
with someone who is affected by dystonia. They
Brothers Malachy and Abel are crusaders for dystonia
awareness on behalf of their sister and mom.
care so much about everyone, not just their
family, and work hard to spread the word.”
Trista began having symptoms of dystonia at
age three, but was not diagnosed until she was
27 years old. Alice was diagnosed shortly after
Trista, when Alice was just three years old.
Malachy and Abel say they want people to
know about dystonia so that scientists can
do more search for better treatments and
eventually a cure.
Never Look Down was created to inform
and empower children with dystonia. You can
preview the book at www.dystonia-foundation.org.
Families may be eligible to receive a copy at no
charge. To request a copy, contact the DMRF
at dystonia@dystonia-foundation.org or
312-755-0198.
WINTER 2013
8
Expectations vs. Reality
By Lisa Zimmermann
As a teen, I had my future mapped out: after high school, I would attend a
four year college and earn a degree in Education. I would live in an apartment
on my own. I would meet my future husband in a class or two, but we would
not start dating until later. I would teach for a few years, then marry by 27
(the age my mom was when she married my dad). I would be a globetrotter
with a couple of kids.
Then I grew up, and realized that I cannot plan my life.
No one plans to abruptly and urgently withdraw from college.
No one plans on sinking deeper and deeper into the dark abyss.
No one plans to earn a Master’s degree and not work in her intended field.
No one plans to still live with mom and dad in her mid to late twenties.
No one plans on having a neurological disorder.
Lisa Zimmermann attended her
first DMRF symposium in 2011.
When I forecasted my future I never could have predicted where I am today.
Since attending my first DMRF symposium in Chicago, I have found my voice. I am eager to educate those who
have not heard this condition as well as advocate for those with dystonia. I always wanted to fight for a cause, and
now I am. I have more friends now than I ever have. Visiting these friends, especially in locations I have not been,
gives me a wonderful excuse to travel and explore. My dystonia friends are my second family; they understand me best.
I am not one of those people who say they have become stronger after a medical hiccup. Yes, I thought “why me?”
Yes, I became depressed, not knowing what was wrong with me. Yes, I struggled to comprehend that my life would
be different. After allowing time to pass, plus a good mixture of tears, smiles, screams, and worry, I am now stronger.
Having a positive outlook, as cliché as it sounds, really did, and continues to, help motivate me.
One day I will move out from my childhood home, but that day has not come yet.
One day I will be hired for a job that does not feel like work.
One day I will have my own children: albeit a dog or cat, or both.
One day I will meet my future husband.
Reality is, I have learned from having dystonia, taking life one day at a time with an extra helping of patience.
Life is truly what you make of it.
Lisa Zimmermann was diagnosed with dystonia at 21 years old, after symptoms surfaced when she was 19. Testing
recently confirmed that Lisa has a rare form of dystonia called rapid-onset dystonia-parkinsonism. She attended her first
the DMRF symposium in 2011 and has since become a loyal attendee of DMRF events. Lisa is a legislative advocate and
has participated in Dystonia Advocacy Day in Washington, DC. She has her Master’s degree in Library and Information
Science. She loves to read, to travel, Batman, and antiques.
DYSTON IA DIA LOGU E
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How I Spent my Summer Vacation:
Going Global with Dystonia Awareness
By Dee Linde
For more than seven years
I have been emailing with
a young Romanian woman
who has adult onset generalized dystonia. Sabina
From L to R, Sabina Gall,
Gall was bedridden
Dee Linde, Catalina Crainic, for several years. The
and Carmina Crainic were
Romanian National
among the attendees of the
first-ever National Conference Health Plan does not
cover botulinum neuroon Dystonia in Romania.
toxin injections or deep
brain stimulation (DBS) for dystonia patients, so most
go without treatment. After Sabina was diagnosed,
doctors told her there was nothing they could do for her.
Being the fighter that she is, Sabina did her own research
and learned about DBS. She wrote to several hospitals
here in the United States as well as doctors in Germany
and other parts of Europe, explaining her circumstances.
A doctor in Germany agreed to help her and, after a
consultation, said she was a candidate for DBS. Sabina’s
family sold their house, and her village held fundraisers so
she could afford to go to Germany for the surgery. Sabina
had DBS in 2007, and it has helped her tremendously.
Sabina’s motto is “pay it forward.” Shortly after her
recovery, Sabina and her mother, Adriana, started a
non-profit organization in Romania called Asociaţia
“Children’s Joy” to help spread dystonia awareness and
to help others who have dystonia. I got to experience
firsthand these two amazing women in action. This July,
I had the honor and privilege of being a guest speaker at
the First National Conference on Dystonia in Romania!
About 50 people from across Romania attended the
conference. I spent a little over three weeks with Sabina
and her family. Their village of Sighisoara, located in
Central Romania, is one of the few inhabited fortified
towns in the world and is a perfectly preserved medieval
town. It has been inhabited since the 6th century BC.
Through their organization, Sabina and Adriana hope
to provide educational resources for doctors and support
for patients as well as to convince the National Health
Ministry to implement a diagnostic code for dystonia
so people can get the treatment they need. Sabina
requested educational materials from the DMRF and
translated them into Romanian. She worked with a
doctor to translate some of the medically oriented
articles from the Dystonia Dialogue in hopes of
publishing their own dystonia newsletter.
Sabina introduced me to another young Romanian
woman, Catalina Crainic, who has cervical dystonia.
I was lucky enough to also visit Catalina’s village of
Timisoara in western Romania which has been inhabited
since 200 BC. Catalina, her husband Marius, and their
young daughter Carmina are very involved with the
Asociaţia “Children’s Joy,” holding workshops, meeting
with doctors, and spreading awareness in Timisoara.
Catalina travels to Hungary to get botulinum neurotoxin
injections, which she must pay for herself.
I was so impressed with the friendliness of the people
I met and overwhelmed by their kindness, generosity,
and compassion for each other. I will never forget Sabina
and Adriana Gall and all of my new friends in Romania.
I never thought dystonia would make me a world traveler.
I never thought I would find myself standing in beautiful,
medieval villages. I thought being diagnosed with dystonia
meant the end of my life—little did I know it was just
the beginning!
Dee Linde, MA was an Aerographer's Mate in the Navy
from 1978-1982 and worked as a licensed Marriage and
Family Therapist for 15 years. Dee was diagnosed with
tardive dystonia in 1997. In 2000 she had successful deep
brain stimulation (DBS) surgery. In 2002 Dee founded
the DBSforDystonia Bulletin Board which offers online
support and information to those on the DBS journey. Dee
also leads the Portland, Oregon & Southwest Washington
Dystonia Support Group. Dee is an active legislative
advocate and frequent speaker at DMRF events—including
the recent 2013 Leadership Conference—and past guest
author in the Dystonia Dialogue. She now serves on the
Dystonia Dialogue Editorial Board.
WINTER 2013
10
PEOPLE ON THE MOVE
The DMRF is deeply grateful for our grassroots volunteers who work year round to promote dystonia awareness and
fundraise for medical research. Every effort and every volunteer makes a difference! We appreciate your support.
In her latest race to support
the DMRF, Carrie Siu-Butt
raised $1,700 by competing
in the San Diego Rock n’ Roll
Marathon in June. Carrie is
diagnosed with dystonia and
was able to return to running
following deep brain stimulation surgery and lengthy training.
She is planning to run the U.S.
Half Marathon in San Francisco
on November 3, 2013 before retiring from distance
running after an amazing track record of supporting
the DMRF by running for those who cannot!
Many thanks to Karen Flanagan for hosting her 2nd
Dystance4Dystonia Cleveland Zoo Walk on October 5.
This very successful event attracted a crowd of attendees, raising
funds for dystonia
research and
promoting awareness. Karen is
diagnosed with
rapid-onset
dystonia parkinsonism and has since made it her mission to be an
advocate for the greater dystonia community.
Over 120 individuals took to the greens on August 5
in Hastings, Minnesota to raise visibility of dystonia
and funds for research toward a cure. The 5th Annual
Minnesota Dystonia Golf Classic was a day of entertainment, competition, but also awareness. Organizer
Wayne Erickson is affected by blepharospasm, a form
of dystonia that affects the eyelid muscles and
causes uncontrollable blinking. The golf tournament
and dinner raised over $10,000 for the DMRF. Many
thanks to Wayne for his efforts and congratulations
on a wonderful, successful event!
A group of supporters led by Ben Humphrey, son of
DMRF Board Member Donna Driscoll, hosted a no
limit Texas Holdem Poker Tournament in Columbus,
Minnesota on September 7. This unique first time
event attracted 50 supporters and promoted
much-needed awareness, raising $5,000.
It was a battle of the
bean bags! The first-ever
Toss4Dystonia Cornhole
Tournament took place
September 28 in
Rochester, New York.
Jim and Cassie Metherell
hosted the event in honor
of their son Caleb who
has dystonia. Families gathered in Frontier Field for
this very original event in support of research toward
a cure and greater awareness.
Melissa Phelps
organized the
Dystance4Dystonia
Cincinnati Zoo Walk
that took place on
September 14 in
honor of her two
young daughters, Olivia and Madison. Melissa’s
children are diagnosed with a rare cause of dystonia
called tyrosine hydroxylase deficiency. Over 250
people attended this enormously successful first time
event. Congratulations to Melissa and her supporters!
Martha Murphy and Bette George represented the
Dystonia Support and Advocacy Group of San Diego
County at the “Summer Healthcare Saturday” health
fair on June 15. They distributed awareness materials
and answered questions from attendees.
Check the DMRF website for upcoming events at www.dystonia-foundation.org/events
DYSTON IA DIA LOGU E
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Upcoming Events
Join us for the following
upcoming events!
November 3, 2013
Carrie Siu-Butt at U.S.
Half Marathon
San Francisco, CA
2013 was the most successful Dogs4Dystonia Virtual Walk ever. Fortyfour dogs and one chicken raised $15,000! The top two finishers, Nico
owned by Carol McGrath (and honoring Treacy Henry) and Daisy owned
by Bryan Baron, each raised $1,900! All proceeds support the mission
of the DMRF. Congratulations to all of our dogs—and their owners on
this amazing campaign!
The Farber family hosted the
8th Annual Chicago Basket Bash
in October in honor of the late
Shari Farber-Tritt, whose experience with dystonia was featured
in the documentary, Twisted. Over
a hundred guests attended to
win prizes and socialize, raising
urgently needed funds for medical
research and promoting greater
dystonia awareness.
In June, Jennifer Stark-Baurley,
who is diagnosed with dystonia,
partnered with Program Director
Tony Stidham of the Scott Family
YMCA to host the first-ever
Dogs4Dystonia Dog Walk in
Scottsburg, Indiana. The DMRF
is grateful for their efforts to
promote much-needed awareness
in their community.
Marta Stoeckel-Rogers ran the
Twin Cities Marathon on October 6
in support of the DMRF. She was
diagnosed with dystonia in 1998
as a high school student. When
she discovered that some of her
dystonia symptoms disappear
while running, she became very
motivated to continue training.
This was her first full marathon,
and the DMRF is extremely grateful
to Marta for running her inaugural
marathon in support of dystonia
research and programs.
Marissa Mortensen ran the
Chicago Marathon on October 13
in honor of her boyfriend Drew
who was diagnosed with cervical
dystonia in 2011 while the two
were attending graduate physical
therapy program. This was Marissa’s
first full marathon. Many thanks
to Marissa for her support and
congratulations on this
achievement!
November 3, 2013
Team Dystance4Dystonia
at NYC Marathon
New York, NY
November 16, 2013
Dystonia Community
Education Forum
Boston, MA
December 20, 2013
10th Annual Help Find a
Cure 4 Dystonia Benefit
Hazleton, PA
January 24, 2014
“Streaming for Dystonia”
Billy McLaughlin in Concert
San Diego, CA - Plus live webcast
April 8–9, 2014
Dystonia Advocacy Day
Washington, DC
Visit http://www.dystoniafoundation.org/events for a
complete list of events and
support group meetings as
dates are confirmed.
12
WINTER 2013
What is Dystonia?
DMRF Partners with Expert Clinicians to Update
Dystonia Definition and Classification
In 1984, Ronald Reagan was
opportunistically several times in
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President. The Cosby Show premiered
conjunction with international
on television, and teenage girls
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everywhere filled their closets with
published this year in Movement
dystonia will continue to evolve as
lace and spandex. The year also marks
Disorders.1 The paper describes
the research progresses.
the conclusions of an international
a milestone in dystonia research: the
• A consensus paper drafted by
panel of investigators with years of
DMRF convened a committee of
movement disorder experts to provide
experts simplifies the classification experience in the field. The updated
definition and classification describe
the medical community with a defiby grouping dystonias by clinical
dystonia more accurately and
nition of dystonia and classification
features and by cause.
provide an improved framework
system for the many forms. Until
•
Terms
like
“primary”
and
“secondary”
for the medical community to
the late 1970s, dystonia was widely
dystonias have caused confusion,
guide diagnosis, diagnostic testing,
unrecognized or misunderstood as
and
are
being
replaced
by
more
treatment, and research.
an obscure psychiatric phenomenon.
accurate descriptions.
But a small group of neurologists
insisted dystonia was being mis• Vague categories like “early onset” What does this mean for individuals
and families in the dystonia comcharacterized and patients were
and “late onset” are replaced by
munity? The consensus paper
not receiving proper care. The 1984
more specific age designations.
integrates some of the latest dystonia
definition and classification secured
research and may influence how
dystonia’s designation as a neurological
your doctor describes dystonia. Some of the terminology
movement disorder and quickly became the accepted
used in future DMRF publications will change to more
clinical description for several decades to come.
accurately reflect what dystonia is and the various forms
it can take.
Since that time, researchers have learned so much about
dystonia that even the language used to discuss the disorder
Defining Dystonia: A Moving Target
needed an update. In 2010 Alberto Albanese, MD of
Ever since the first description of dystonia in the late
National Neurological Institute, Carlo Besta (Italy) began
19th century, there has been ongoing debate about the
encouraging members of the movement disorders
classification and descriptions of the various forms.
community that the time was right to act, spearheading
The definition and classification will continue to
the effort by asking the DMRF to consider supporting
evolve as researchers learn more about dystonia.
a meeting of experts to review the definition and
classification devised in 1984.
Dystonia represents a complex group of syndromes.
The term dystonia may indicate a specific kind of
The DMRF provided initial support and helped form
involuntary movement—i.e. a symptom—or any number
a committee of experts to address this matter, eventually
of neurological disorders in which dystonias occur.
partnering with the Dystonia Coalition and the European
Dystonia Cooperation in Science and Technology
It is important to have a classification system that guides
(COST) Action. After preliminary discussions, the
diagnosis and also identifies dystonias by the cause, if
process began in 2011 and the committee met
1
Albanese, A., Bhatia, K., Bressman, S. B., DeLong, M. R., Fahn, S., Fung, V. S.C., Hallett, M., Jankovic, J., Jinnah, H. A., Klein, C., Lang, A. E., Mink, J. W.,
and Teller, J. K. (2013), Phenomenology and classification of dystonia: A consensus update. Mov. Disord., 28: 863–873. doi: 10.1002/mds.25475
DYSTON IA DIA LOGU E
13
Spasmodic Dysphonia/
Laryngeal Dystonia
“
Dystonia is characterized
Affects muscles of the
vocal cords, making it
difficult to speak.
by persistent or intermittent
Oromandibular Dystonia
muscle contractions causing
abnormal, often repetitive,
movements, postures, or
both. The movements are
usually patterned and twisting, and may resemble a
tremor. Dystonia is often
initiated or worsened by
Affects the face, jaw, and/or
tongue. Causes grimacing,
tongue protrusion, jaw
closure, or jaw opening.
Hand Dystonia/
Writer’s Cramp
Causes the fingers to curl
and the hand and forearm
to cramp. Occurs when a
person attempts to use the
hand for writing, playing a
musical instrument, or
other activities.
Blepharospasm
Affects the eyelids, causing
then to blink uncontrollably
or remain closed.
Cervical Dystonia/
Spasmodic Torticollis
Affects neck and shoulder
muscles, turning the head
to the side or forcing the
head back or forward. A
tremor may be present.
Generalized Dystonia
Affects many parts of
the body simultaneously.
Causes cramping and
twisting in the feet,
limbs, and torso.
voluntary movements, and
symptoms may ‘overflow’
into adjacent muscles.
Dystonia is classified by:
1. clinical characteristics
(including age of onset, body
Dystonia may occur in isolation or in combination with additional movement disorder symptoms such as
myoclonus or parkinsonism. The diagram above describes several common manifestations of dystonia.
known, to guide future research and
treatment. This makes it challenging
to develop a single system that serves
both purposes.
distribution, nature of the
symptoms, and associated
features such as additional
movement disorders or
neurological symptoms) and
2. Cause (which includes
changes or damage to
the nervous system and
inheritance).
”
~ Excerpt from Phenomenology
and Classification of Dystonia:
a Consensus Update (2013)
Instead of classifying dystonia along
three major points of reference (cause,
age at onset, body distribution) the
consensus paper proposes a simplified
scheme that classifies dystonia along
just two: clinical features and cause.
Clinical Features: What are the
Signs & Symptoms?
Clinical features are the signs
and symptoms of dystonia.
These include age at onset, body
distribution, certain qualities about
the symptoms, the presence of other
movement disorders, and other
neurological features. Doctors use
these factors to guide diagnosis
and treatment.
Age at onset for dystonia has
traditionally been categorized as
late onset (adult onset) and early
onset (childhood onset). In order
to keep the classification more
consistent with stages of human
development, the following
categories seem more helpful:
• Infancy (birth to 2 years)
• Childhood (3-12 years)
• Adolescence (13-20 years)
• Early adulthood (21-40 years)
• Late adulthood (40+ years)
Definitions for describing body
distribution remain largely unchanged
in the new classification:
• Focal dystonia: Only one body
region is affected. Examples include
blepharospasm, oromandibular
dystonia, cervical dystonia, laryngeal dystonia/spasmodic dysphonia,
and writer’s cramp.
Continued on page 14
14
Continued from page 13
• Segmental dystonia: Two or more adjacent body
regions are affected. For example, cranial dystonia:
blepharospasm plus lower face, jaw, and/or tongue
involvement.
• Multifocal dystonia: Two non-adjacent body areas
or more (adjacent or not) body regions affected. For
example, cranial dystonia plus writer’s cramp.
• Generalized dystonia: The trunk and at least two
other body areas affected. Generalized forms with
leg involvement are distinguished from those
without leg involvement.
• Hemidystonia: More body regions restricted to one
side of the body are affected.
Daily changes of the symptoms—also referred to as
temporal pattern—also guide diagnosis and treatment.
The disease course can be static (meaning the symptoms
are stable) or progressive (meaning the symptoms change
or spread over time). The variability of symptoms may
be grouped into four patterns:
• Persistent: Dystonia that is fairly consistent throughout
the day.
• Action-specific: Dystonia that occurs only during a
particular activity or task.
• Diurnal fluctuations: Dystonia that fluctuates during
the day, often in recognizable patterns in relation to
sleep and waking.
• Paroxysmal: Sudden episodes of dystonia usually
induced by a trigger.
Dystonia can occur in isolation or in combination with
other movement disorders. The term “primary” was
introduced to define cases in which dystonia is the only
present neurological disorder (with or without dystonic
tremor). Cases previously referred to as “primary” or
“pure” dystonia are now more accurately described as
isolated dystonia, where dystonia is the only movement
symptom with the exception of tremor.
Cases previously identified as “dystonia-plus” or
“heredodegenerative” are now more precisely classified
as combined dystonia: in these cases dystonia is combined
with other movement symptoms such as myoclonus
or parkinsonism.
WIN TER 2 0 1 3
The presence or absence of other neurological or medical
conditions remains a critical component for classifying
dystonia, for both clinical and research purposes;
certain forms of dystonia are closely associated with
other clinical characteristics that should be considered
in the treatment process.
Cause: What Do We Know About Why
Symptoms Occurred?
Characterizing dystonia by what is known about the
cause—also called etiology—is ever-evolving as researchers
continue to explore the biological mechanisms that lead
to symptoms. Knowing the causes of dystonia will guide
more specific treatment and possibly prevention.
The consensus paper recommends considering dystonias in
terms of inherited or acquired forms. Inherited dystonias
are those with a proven genetic origin, for example
mutations in the DYT-designated genes such as DYT1,
DYT5, or DYT11. Acquired dystonias are due to a
known specific life event or series of events, for example
birth injury, drug exposure, brain injury, infection, and
other factors. Psychogenic or functional dystonias are
considered acquired dystonias, though this is an area
that remains in debate even among experts.
However, there are many cases of dystonia that are
idiopathic, meaning there is no identifiable cause. This
includes cases with or without a family history. There are
families with multiple members who are affected by
dystonia—suggesting an obvious genetic component—
but no specific gene is known to be the culprit. Many
of the focal dystonias that occur in adulthood fall under
this category. As more genes are identified, certain
idiopathic forms may be reclassified as inherited.
What’s in a Name?
The updated clinical definition and classification of
dystonia are significant because they demonstrate how
far the research has progressed over the last 30 years.
The field of dystonia has matured to the extent that
it outgrew even the language used to discuss it. The
authors of the consensus paper offer a simplified,
more accurate system for doctors to diagnose and treat
dystonia, and for investigators to guide further research.
The DMRF is proud to have played a role in this
important research milestone.
DYSTONIA DIALOGUE
15
Updated Classification of Dystonia
The updated classification system guides diagnosis and
treatment for the many manifestations of dystonia. It provides
doctors with a check list of characteristics that, when applied
to an individual, reveal a detailed description of that
person’s diagnosis, to the best that the
research can now support.
AXIS 1: CLINICAL CHARACTERISTICS
What are the signs and symptoms?
Clinical characteristics of dystonia
What is the age at onset?
• Infancy
• Childhood
• Adolescence
• Early adulthood
• Late adulthood
How are symptoms distributed on the body?
• Focal
• Segmental
• Multifocal
• Generalized
• Hemidystonia
What is the temporal pattern?
How have the symptoms changed over time?
• Static
• Progressive
How variable are the symptoms?
• Persistent
• Action-specific
• Diurnal
• Paroxysmal
Associated features
Is the dystonia isolated or combined with another
movement disorder?
• Isolated dystonia
• Combined dystonia
Are there other neurologic or systemic symptoms?
• List of co-existing neurological symptoms
AXIS 2: ETIOLOGY
What do we know about the cause?
Is there observable damage to the nervous system?
• Is there evidence of degeneration in the brain?
• Is there evidence of structural lesions in the brain?
Is the dystonia inherited or acquired?
If inherited, what is the inheritance pattern?
• Autosomal dominant
• Autosomal recessive
• X-linked recessive
• Mitochondrial
If acquired, how was the dystonia acquired?
• Perinatal brain injury
• Infection
• Drug exposure
• Toxic exposure
• Vascular (e.g. stroke)
• Neoplastic (e.g. tumor)
• Brain injury
• Psychogenic
If the dystonia is idiopathic, are other family
members affected?
• Sporadic (no family history)
• Familial (positive family history)
Help researchers continue to study dystonia by
joining the Global Dystonia Registry. Learn more
at https://globaldystoniaregistry.org/
WINTER 2013
16
Expanding the Definition of Dystonia
& Progress in the Field
Interview with Dystonia Expert Stanley Fahn, MD
Stanley Fahn, MD was among the earliest pioneers of dystonia
research and patient care, and is responsible for training some of
the most influential and accomplished dystonia experts in practice
today. He was a member of the original committee assembled by
the DMRF in 1984 to develop a medical definition of dystonia and
served on the international committee of experts that recently
updated the definition and classification. In a recent interview he
Stanley Fahn, MD has been
one of the most influential
dystonia experts for almost
40 years.
shared his insights on this research milestone and the field of
dystonia in general.
DD: From your perspective as researcher and clinician
who has been publishing work on dystonia since the
1970s, what is the significance of the updated dystonia
definition and classification?
DD: You served on the DMRF’s ad hoc committee
that drafted the previous dystonia definition and
classification in 1984. How was the process
different this time around?
SF: One can look at a new classification and definition
as a way of keeping pace with the research going on
and having a better understanding of the disease you
are investigating. As we learn more about diseases, or
specifically a single disease, there are new nuances that
come into account. Certainly the classification will have
to be changed as more types of dystonia are discovered.
One looks at an update in classification as a “progress
report.” Obviously, if we didn’t make any progress, we
wouldn’t have to change anything. When we first wrote
a definition in 1984, it was essentially a single sentence;
now it’s about three sentences.
SF: Even before 1984, the approach had been that one or
One of the concerns is that there are doctors out
there who don’t know dystonia, and this new modified
definition will maybe give them a better handle on it
when they see a patient with dystonia, to figure out
exactly what kind they have and where that patient
fits into the classification scheme.
two people would get together and come up with their own
classification. The original definition and classification
—the one in 1984—was promulgated by the Dystonia
Medical Research Foundation who wanted to make sure
we had a definition everyone could agree upon. And they
put together a team of six investigators in the field who
got together and finalized their definition and classification
in a single day.
This new one was done a little bit differently. Since
there are more investigators working on dystonia now
than there were in 1984, we had to include more people.
And one day wasn’t long enough; we realized it was
complex. We had to meet again. It was a longer, drawn
out process—probably took about two years altogether.
That said, there was a final product which is much more
comprehensive and complex than from the one-day
session in 1984. Eventually a consensus was developed—
with the full understanding that it’s not 100% complete.
We’ll need to change it again.
DYSTONIA DIALOGUE
17
Dr. Fahn gave a fascinating presentation at the 2013 Board of Directors meeting on how the medical
community has defined dystonia over the years and the role of the DMRF in stimulating research.
View the presentation on the DMRF YouTube channel: http://www.youtube.com/facesofdystonia
DD: In your mind, what are some of the most promising
or interesting aspects of dystonia research?
SF: Fortunately, there is a lot of research taking place
in dystonia, not only in the basic science and genetics,
physiology and animal models, but also treatments.
There is no question we need better treatments, so that
should be a major goal.
Dystonia is one of the more complex diseases not
only because of the different genetic forms but because
symptoms in different parts of the body may have different
responses to treatment. Let’s say some drug company has
drug X that they think might work for dystonia. Should
you study it in only cervical dystonia, only speech dystonia,
only arm dystonia, and so forth? If the drug doesn’t work
in that one type, does that mean we give up on it? These
are complex issues. So these are decisions that will have
to be brought up as each drug comes into the fore for
being tested.
There is a lot of work to be done, but there is also great
promise, and that keeps a lot of the scientists interested
in this disease. We do want to see this disease conquered.
It looks hopeful but we don’t have the right drugs yet. It’s
going to be an interesting future for dystonia. It’s all going
to get better with time, there’s no question about that. I’ve
seen it in my lifetime, how much we’ve come along in
making progress, and the future is going to be great as well.
DD: What keeps you interested in dystonia and
involved with the DMRF?
SF: Dystonia is really a fascinating disease, no question
about it. It’s mysterious. There is still debate about what
parts of the brain are involved in dystonia—a lot of research is going into that. Dystonia is a vital, interesting
disease for young people to get into because there is so
much future research that can be done in this field.
Doctors and basic scientists want to know their work is
going to help people ultimately. We can see that in the
field of dystonia.
Keeping up-to-date with dystonia is not easy! So much
is being done. There is a lot of literature out there to
read and to comprehend and to put together so one can
understand the bigger picture. The formation of the DMRF
was really a key element in enhancing research and
bringing people together, encouraging young investigators
to get into the field, putting together conferences, providing
research grants, keeping people who have dystonia and
their families informed about dystonia, encouraging
them to take part in advocacy, getting families to raise
funds and appeal to Congress to give money for NIH
[National Institutes of Health] research, and so forth.
There is partnership between NIH and the DMRF
and the scientists. It’s nice to see all this progress.
I give credit to the DMRF. I want to acknowledge Sam
and Fran Belzberg who founded it, and Marty Sloate—
he and I worked with Sam and Fran initially to encourage
them to start the Foundation. It’s really taken off. It’s been
a model foundation for patients.
For the full-length version of this interview, visit
www.dystonia-foundation.org/dialogue
Stanley Fahn, MD is the H. Houston Merritt Professor
of Neurology and Director Emeritus of the Center for
Parkinson’s Disease and Other Movement Disorders at
Columbia University. He served as a member of the Medical
and Scientific Advisory Council of the Dystonia Medical
Research Foundation and is currently a lifetime honorary
member of its Board of Directors. Dr. Fahn founded and
directed the first Dystonia Clinical Research Center in the
United States. He co-organized four international dystonia
symposia from 1975 to 2002. Dr. Fahn has received numerous
honors and delivered many titled lectures at a variety of
universities around the world. The Dystonia Medical
Research Foundation created the Stanley Fahn Fellowship
in 1998 and the Stanley Fahn Dystonia Award in 2003,
a $100,000 grant to an individual who is making
outstanding contributions to the understanding and
treatment of dystonia.
WINTER 2013
18
Q&A
Deep Brain Stimulation
Deep brain stimulation (DBS) is a therapy
that is being used to treat a greater number
and variety of dystonias than ever before.
The techniques and technology of DBS are
constantly evolving as dystonia research
progresses. The movement disorders field
now has a decade of experience—and data
in the medical literature—about the long-term
safety and efficacy of DBS. This article
addresses common questions about this
treatment for dystonia.
What is deep brain stimulation?
Deep brain stimulation (DBS) is a procedure used to
treat a variety of neurological diseases, including movement disorders such as dystonia. A pulse generator—
essentially a brain pacemaker—is surgically implanted
and delivers electrical stimulation to the areas of the
brain associated with dystonia. The pulse generator is
implanted into the chest or abdomen, and extension
wires connect the pulse generator to leads deep in the
brain. The stimulation is adjusted by remote control to
achieve the best settings for each individual patient. The
procedure is completed in several phases: implanting the
leads in the brain, implanting the pulse generator in the
chest, activating the pulse generator, and programming
the stimulation settings.
How does DBS treat dystonia?
Although deep brain stimulation (DBS) has proven
to be a safe and effective treatment for a variety of
disorders, the exact mechanism of action is not fully
understood; doctors know it works, they just can’t
exactly explain why. Dystonia symptoms result when
excessive signaling from the brain causes involuntary
muscle contractions and movements. The stimulation
delivered to the brain by the DBS pulse generator
suppresses these excessive signals, thereby lessening
the dystonia symptoms.
How do I know if I am a candidate for DBS?
Deep brain stimulation (DBS) is not appropriate for
all individuals with dystonia, and not all patients who
undergo the procedure will experience the same results.
The medical community is still learning which patients
are the best candidates. Based on the research to date,
individuals who have isolated (primary) dystonia may
be likely—but are not guaranteed—to have the best
outcomes from DBS, and perhaps as well those who
are younger, test positive for the DYT1 dystonia gene
mutation, and are treated relatively early on in the
dystonia progression. Much of this remains under
19
debate. Individuals with severe cervical dystonia or
dystonia acquired by drug exposure (tardive dystonia)
may also be good candidates for DBS. Individuals with
other forms of acquired (secondary) dystonia should be
evaluated on a case by case basis. There are also promising
data on the use of DBS to treat myoclonus dystonia.
Ultimately, DBS may be considered if medications
and other treatments have failed, and if the symptoms
negatively affect quality of life to the extent that the
surgical risks are justified. The first step in the evaluation
process for DBS is to meet with a DBS-trained movement disorders neurologist. For a list of suggested
questions to ask your doctor when discussing whether
you may be a candidate for DBS, visit www.dystoniafoundation.org/dialogue
Is DBS safe? What are the risks?
Overall serious side effects from deep brain stimulation
(DBS) are rare, but no invasive surgical procedure is
without risk. The main risk in DBS is bleeding in the
brain during the lead implantation, resulting in stroke.
However, approximately 99% of patients do not have
significant bleeding. Infection occurs in approximately
5% of patients. Infection can be serious and warrant the
removal of the hardware. (If this happens, it may be
possible to re-implant the hardware once the infection
is treated.) Hardware issues may occur, for example wire
disconnection or battery failure. Most complications
that occur can be resolved without removing the hardware.
What are the benefits?
One of the challenges of treating dystonia with deep
brain stimulation (DBS) is that it is difficult to predict
which patients will benefit and to what degree. Based on
recent studies and reviews, improvements of 50-60% are
generally observed overall, with some patients experiencing
a 90% reduction in symptoms. Even an improvement
rating of 30%, however, can have a significant impact on
a person’s ability to function. It is not uncommon for
DBS patients to rate their improvement higher than the
numerical result of the rating scales that doctors use.
Despite significant benefit for many patients, DBS is
not a cure.
How do I select a medical center that offers
DBS for dystonia?
Deep brain stimulation (DBS) for dystonia is a highly
specialized procedure that should be performed by a
multidisciplinary team with extensive training and
experience. Each medical center that offers DBS will
have its own methods and procedures. The first step
in the evaluation process for DBS is to meet with a
DBS-trained movement disorders neurologist. The
DMRF can help you locate centers in your region.
Is DBS covered by insurance?
Deep brain stimulation (DBS) for dystonia received
a special category of approval by the Food and Drug
Administration (FDA), called a “Humanitarian Device
Exemption." In most cases, insurers cover the procedure.
Some insurers may initially deny coverage but approve
after an appeal. Your doctor’s office and health insurance
provider—including Medicare and Medicaid—can clarify
your level of coverage, coding, and payment policies.
What long-term maintenance is involved in DBS?
Having deep brain stimulation (DBS) is a life-long commitment that requires ongoing management. Maintenance
includes battery changes (which consist of out-patient
surgery) and may include ongoing programming adjustments. Hardware problems may occur. Rarely, individuals
develop new movement disorder symptoms associated with
the stimulation. Individuals with DBS must be mindful
of situations that can interfere with the functioning of
the DBS hardware, such as exposure to magnetic fields—
this includes certain medical MRI imaging (magnetic
resonance imaging). There may be restrictions in terms
of certain activities, such as extreme or contact sports
that could damage the implanted hardware.
How can I learn more about DBS for dystonia?
For more information on DBS for dystonia, ask your
movement disorder specialist and visit www.dystoniafoundation.org/treatment. If you are considering DBS,
or have had the procedure and wish to connect with others
who have also undergone the procedure, join the DBS for
Dystonia online bulletin board: http://health.groups.
yahoo.com/group/DBSforDystonia/
WINTER 2013
20
Meet Our Volunteer Leaders
Support Group Leaders & Online Moderators are Lifelines to the Dystonia Community
While the DMRF continues to pursue research advancements toward improved treatments and a cure,
we also recognize that affected individuals and families need support now. The DMRF partners with
volunteers across the country to organize support groups and online support forums to help members
of the dystonia community connect with one another and access information. In this article you’ll meet
just a few of these special volunteers.
people could get information, get
support, and we were going to keep
it positive.”
Central Jersey Dystonia
Support & Action Group Leaders:
Janice & Len Nachbar and
Joanna Manusov
Janice and Len Nachbar started the
Central Jersey Dystonia Support
Group in 2000, inspired by the
diagnosis of their daughter, Joanna
Manusov, several years earlier at
the age of 21.
The Central Jersey Dystonia Support
Group quickly became one of the
DMRF’s most ambitious and accomplished groups. The support
group meets four times a year and
has a mailing list of about 85 people.
The Nachbar/Manusov family
became passionate about promoting
awareness and worked with local new
media, among business contacts,
and government figures to make
dystonia as visible as possible. They
are seasoned fundraisers, having
organized a variety of very successful
events, and were the original creators
of the Dogs4Dystonia Dog Walk,
which has been replicated in communities around the country. They have
organized seven “Dogs4Dystonia…
A Dog Walk and So much More”
events, raising tens of thousands
of dollars in support of dystonia
research and DMRF programs.
“One of the things we made clear
from the beginning,” explains Len,
“was that we wanted the support
group to be a positive experience.
It wasn’t going to be a pity party.
We wanted to create a space where
Joanna plays a central role in the
Dog Walk planning by networking
year round online and coordinating
partners and vendors—all one painful
key stroke at a time. Joanna is
affected by generalized dystonia
Janice and Len Nachbar and daughter
Joanna are longtime DMRF supporters
and advocates.
that makes it extremely difficult
to move, be mobile, or speak. She
relies on a computer or keyboard
device to communicate. “Joanna
may not appear to be a ‘powerful’
person, but she is very powerful,”
beams Janice.
“I’m selfish,” says Len. “Everything I
do is trying to improve my daughter’s
life and the lives of our friends. It’s
a good kind of selfish. And it’s
gratifying to help people. We’ve
made some very good friends.”
“I find it very empowering,” adds
Janice. “There is only so much I
can do to fight Joanna’s dystonia
medically. You find the best doctors
and go down as many treatment paths
as you can, and sometimes the paths
run out. So at least I am doing
something. It makes me feel like
I’m doing my share.”
Despite the Central Jersey Support
Group’s level of sophistication in
terms of organization and diversity
of activities, Janice stresses the importance of simple acts: “Just keep
talking about dystonia,” she advises,
“Keep saying the word out loud.
Say the word ‘dystonia’ to as many
people as you can.”
DYSTONIA DIALOGUE
21
Bob was inspired to attend his first
dystonia support group after attending
a DMRF symposium in 1999. After
the support group disbanded, he and
Virginia established a dystonia support group in 2009 while residing
near Monterey Bay, California. When
they relocated to Prescott, Arizona
in 2011, they quickly got to work
on establishing a support group
in Phoenix, the nearest major
metropolitan area.
Bob and Virginia Spencer go
above-and-beyond by facilitating
two dystonia support groups.
Phoenix & Prescott, Arizona
Dystonia Support Groups Leaders:
Virginia & Bob Spencer
Bob Spencer has lived with dystonia
since 1986. He is affected by segmental dystonia affecting his neck
and shoulder, to the extent that he
was medically discharged as a U.S.
Navy Chief Hospital Corpsman. He
wears a customized Taylor-Knight
brace with a head extension for the
anterocolis which forces his chin down
toward his chest. Bob was diagnosed
with spasmodic dysphonia in the
1990s, but the symptoms have since
subsided after two and a half years
of intense speech therapy.
“People often ask how we have been
able to keep our positive outlook on
life since Bob was diagnosed with
dystonia,” says Bob’s wife, Virginia.
“Our answer is that we choose the
joy of our faith over despondency.
We have been married for 42 years,
and we strive to encourage each
other every day.”
The couple soon realized that the needs
of the local dystonia community
were more than a single support group
could accommodate. So they didn’t
stop at starting one support group
in Arizona: they currently facilitate
two dystonia groups–one in Phoenix
and another 100 miles away in
Prescott that began earlier this year.
Meetings are held monthly in Prescott,
and every other month in Phoenix.
“We hope our members find a sense of
well-being and acceptance,” explains
Bob, “and a place to learn how to cope
with their dystonia. It’s rewarding to
see people connect with someone who
knows what they are going through.”
Bob recounted a recent example
in which a woman who attended a
meeting only reluctantly learned about
botulinum neurotoxin injections
through the support group. She
began treatment, and she and her
husband are now loyal supporters.
“We know there are so many more
people out there who could benefit
from attending a meeting, if they
just knew about it or made the
effort to come. We provide a safe
place for people to share how they
really feel about having dystonia.”
Left: Carol-Ann Peralta shares a
dystonia diagnosis with her daughter
Allison. Right: Dena Sherry is active
with the DMRF in honor of her
daughter, Jana.
Support4Parents of Children
with Dystonia Moderators:
Carol-Ann Peralta & Dena Sherry
In response to feedback from the
community, one of the first online
Facebook groups the DMRF created
was Support4Parents of Children
with Dystonia, a group exclusively
for parents of affected children. A
year and a half later, with nearly 200
members, this is one of the DMRF’s
most active online groups. Parents
from across the country and beyond
share experiences, seek feedback,
and support one another daily. “I
remember, all too well, the feelings
of being lost, overwhelmed, alone,”
says Carol-Ann Peralta of New York,
who serves as one of the groups comoderators. “I am so happy this site
has been created and am more than
happy to share with anyone who
wants to learn from mine and
Allison's experiences.”
Carol-Ann was serendipitously
diagnosed with DYT1 generalized
dystonia during the process of seeking
a diagnosis for her daughter, Allison,
who is also affected by this particular
type. Allison had deep brain stimulation (DBS) surgery at age 7, with
a revision at age 9. Allison is now 15.
Continued on page 22
WINTER 2013
22
Continued from page 21
Carol-Ann also underwent DBS, making her a very
unique resource for other parents. “I am blessed that
we had wonderful doctors who helped us through some
difficult times,” she explains, “but they provided us with
a wealth of information. They were the ones who put us
in contact with DMRF where the learning continues.”
Carol-Ann is joined by fellow moderator Dena Sherry,
who resides in California and whose 23-year-old
daughter, Jana, is diagnosed with dystonia and cerebral
palsy. Jana has also undergone DBS. “Being involved
with the DMRF has brought families together through
symposiums and other programs, and the online group
is wonderful for giving parents a safe space to connect
with one another any time they need it,” Dena shares.
“These families are going through so much.”
The Peralta and Sherry families are both loyal attendees
of DMRF events and supporters of the Foundation,
participating regularly in fundraisers and awareness
efforts. Earlier this year, Dena ran the Napa Valley
Marathon in support of the DMRF and spoke at
Dystonia Advocacy Day.
Parents of children with all manner of dystonia
diagnoses are welcome to join the Support4Parents
of Children with Dystonia on Facebook.
Contact information for all DMRF support groups and online
forums can be found at www.dystonia-foundation.org
Help Researchers Find a Cure:
Register as a Brain Donor Today
Brain donation is a precious gift
that anyone can give the dystonia
community. Registering as a
brain donor costs nothing
financially but provides dedicated
researchers with important clues
in their quest to better understand
this complex disorder. By registering
as a brain donor, you are making an
invaluable contribution to dystonia research that will
bring us closer to a cure.
The brain recovery process does not interfere with
funeral or memorial services or affect the outward
appearance of the donor. We encourage dystoniaaffected individuals as well as family members to
consider becoming brain donors because researchers
are in need of brain tissue from both. You must reside
within the United States to participate. Donors may
withdraw from the program at any time.
The DMRF partners with the Harvard Brain Tissue
Resource Center (HBTRC) at McLean Hospital in
Belmont, Massachusetts. You can learn more about the
program and begin the simple registration process at
http://www.dystonia-foundation.org/brain. Or you
may request information by mail by contacting Martha
Murphy, Brain Bank Liaison, at brainbank@dystoniafoundation.org or calling 800-377-3978. Martha is
available to answer any questions you may have about
the brain donation program and registration process.
Show Your Support with DMRF T-Shirt
The DMRF will have our first-ever team in the ING New York City Marathon
on Sunday, November 3, 2013. You can support our runners as they go the
“Dystance for Dystonia” by ordering a DMRF-NYC marathon t-shirt for $10.
Proceeds support the efforts of our runners, who each are committed to raising
$2,500 to support the cause. Shop at http://ww.dystonia-foundation.org
DYSTONIA DIALOGUE
23
PERSONAL PROFILE
Meet Susan Zimmerman
Susan Zimmerman began experiencing symptoms of generalized dystonia
in her mid-20s. She resides in Oregon, and is currently being evaluated for
deep brain stimulation (DBS).
Despite the spasms and
tremors of dystonia, Sue
Zimmerman creates
intricate bead mosaics.
How did your
symptoms begin?
It started in 1986-87, with
stiffness and rigidity in my
left arm. Within months,
I started having movements, postures, tremors. I was
initially misdiagnosed with conversion disorder and
spent several years in and out of psychiatric facilities,
but was eventually correctly diagnosed with generalized
torsion dystonia. It affected my upper extremities,
shoulder, left leg and foot; when my head started to
pull down, they also diagnosed cervical dystonia. I
couldn’t lie in bed; I couldn’t sit in a chair. I couldn’t
eat. I lost 70 pounds in two months. The doctors said
I should go home and get my affairs in order. They
calculated I had about two months to live. They sent
me home on all kinds of meds, but I wanted to give my
brain the opportunity to heal itself. After 18 months off
the medications, I started to improve. I had to re-learn
how to walk. I went from using a wheelchair, to using
two canes, then to only one cane. I was able to return to
school finishing all the coursework for a Master’s degree
in Counseling, until I was exposed to a number of drugs
by paramedics, and my body started to draw up again.
I had to withdraw from the program.
How do you cope?
I’ve had to learn to be patient, to take one day at a time.
I “live in the pause.” That’s why I call my blog “Between
the Twitches.” I live in the space in between the twitches.
I do what I can, but I know my limits. I stopped driving.
I gave my brother-in-law my table saw. I have to be
reasonable. I won’t drive a motorcycle, but I can ride
a horse! I don’t have a lot of “give up” in me.
What have you learned from living with dystonia?
There is a difference between pain and suffering. I’m in
a lot of pain, but I’ve learned how to live with it. Pain is
what I feel 24/7. Suffering is what I create when I make
a judgment about my pain. That is a choice. I have pain,
but I try to keep suffering out of the equation.
Please talk about your beadwork.
I find it hysterically funny that I’m able to do bead work.
I can’t hold my head still, can’t hold my body still; my
hand is in a brace to keep it from folding up. But, I can
use a toothpick to place a bead in a little glue on a canvas,
twitch, then place another bead. It makes me laugh that
someone with a movement disorder can do this. With
the tiniest of objects I make a bold statement: “Power
isn’t in the twitch, it’s in the pauses between them!”
How does dystonia affect you today?
Any advice for others with dystonia?
Dystonia is a ride! Just when I think I know what I am
dealing with, it changes on me. Every time I’ve needed a
surgery—appendectomy, surgery for kidney stones, gallbladder surgery in February—it accelerates the dystonia.
Botulinum toxin seems to be less effective so I’ve added
physical therapy, massage, a TENS unit [transcutaneous
electrical nerve stimulation] for my back spasms. And I
take baclofen and levodopa. Altogether it’s not enough
so I’m dealing with more secondary effects: pain, sleep
problems, difficulty chewing, swallowing, speaking, and
challenges with dental care and hygiene.
Be your own advocate. Health care professionals
have training and degrees, but they have never lived a
minute in your body. You are the genius when it comes
to knowing your body. Be authentic and genuine with
your grief. You need to honestly accept what has happened
to you before you can heal. I never refer to dystonia
as “my” dystonia. Dystonia is not me; dystonia is
something that happened to me.
Learn more about Susan and view samples of her beadwork at
http://betweenthetwitches.com/
Dystonia Dialogue
Dystonia Medical Research Foundation
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Chicago, Illinois 60601-1905
PHONE 312 755 0198 • 800 377 DYST (3978)
WEB www.dystonia-foundation.org
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Give the Gift of Dystonia Awareness
The DMRF Offers New Awareness Merchandise in Time for the Holidays
Let the DMRF help you with your holiday shopping this year! In our online store,
you’ll find new awareness items that also make thoughtful gifts.
Shop at: http://www.dystonia-foundation.org