Winter 2009 - Dystonia Medical Research Foundation

MAGAZINE OF THE DYSTONIA MEDICAL RESEARCH FOUNDATION | WINTER 2009 | VOL. 32 • NO. 3
6
Dystonia
Coalition
Leverages
New Funding
for Research
8
Meet Artist
Diego
Jacobson
12
Scenes from
the Children
& Family
Symposium
inside this issue
6
Science Stimulus
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.
Unprecedented Funding for Dystonia Research
8
Everything is Perfect
The Art & Philosophy of Diego Jacobson
12 Today is the Day
Scenes from the Children & Family Symposium
18 Suggestions for Energy Conservation
Learn Ways to Adapt Daily Activities
22 Focus on Focal Dystonia
Meet Carol Flynn & Larry Stahl
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:
www.dystonia-foundation.org
On the Cover:
This issue’s cover design was altered slightly
to properly display “Don Quijote,” a work
by Diego Jacobson. Despite generalized
dystonia, Diego has produced a collection
of 1,100 critically acclaimed paintings in
10 years. He is hosting a gallery reception
to benefit the DMRF in January. Learn more
about Diego on page 8.
Partial support for the Dystonia Dialogue is provided by an unrestricted
educational grant from Allergan.
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 [email protected]
Web www.dystonia-foundation.org
Canadian donations may be sent to:
Dystonia Medical Research
Foundation Canada
8 King Street • Suite 106
Toronto, Ontario Canada M5C 1B5
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 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 Coordinator
Tammy Reed
Senior Associate 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
CLAIRE CENTRELLA
PRESIDENT
Like any organization, the DMRF is a collaboration of people working toward a common
goal. Relationships are always important in business and, more than ever, human relationships
are coming into focus as the soundest investments in uncertain times. The leadership of the
DMRF continues to be grateful for the quality partnerships and friendships the organization
has built around the world, and recognizes that the human quotient is inherent to the
organization’s progress.
One of the greatest rewards of the past year is seeing the tangible benefits from the
cooperation among dystonia patient groups. The Dystonia Coalition was able to secure a
$6.2 million grant from the National Institutes of Health to fund dystonia research. This is
an unprecedented event, both for the amount of federal funding secured and for the level
of collaboration among dystonia organizations. You can read more about this incredible
development on page 6.
JANET HIESHETTER
EXECUTIVE DIRECTOR
The DMRF co-sponsored a Dystonia Workshop in Rome earlier this year to foster and build
networks abroad. We’re privileged to have members of the European dystonia community
serve on our Medical & Scientific Advisory Council and on the Board of Directors. Our science
programs have introduced us to outstanding scientists in
England, France, Italy, Germany, Japan, Russia, and beyond.
“The Dystonia Coalition was able to secure a
Our focus on relationships is central to the DMRF’s
efforts to support individuals and families living with
of Health to fund dystonia research. This is an
dystonia. We never forget who we serve. In 2009 we
unprecedented event, both for the amount of
continued our efforts to reach out to the community and
federal funding secured and for the level of
provide opportunities for individuals touched by dystonia
collaboration among dystonia organizations.”
to connect with each other. We hosted a Deep Brain
Stimulation Symposium, the John H. Menkes Children
& Family Dystonia Symposium, and Community Forums
throughout the country. We improved our presence on social networking sites and hosted
webinars. Connecting people to each other is as important as connecting them to the DMRF.
$6.2 million grant from the National Institutes
We’re about to turn the corner toward a new decade, and we’re doing so in a strong spirit
of cooperation—with our Coalition partners, the medical and science community, and most
importantly you, our supporters and members. Thank you for your support. On behalf of
the leadership of the DMRF, we wish you health and happiness into 2010 and beyond.
Sincerely,
Claire Centrella
President
Janet Hieshetter
Executive Director
WINTER 2009
4
Dystonia Medical Research Foundation
Board of Directors
Stanley Fahn, MD
Lifetime Honorary Director
Charles H. Markham, MD
Lifetime Honorary Director
Martin B. Sloate
Lifetime Honorary Director
Samuel Belzberg
Chairman/Founder
Claire A. Centrella
President
Arthur Kessler
Co- Vice President of Science
Deborah Kilpatrick, PhD
Co- Vice President of Science
Barbara Kessler
Vice President of Awareness
& Activities
Karen K. Ross, PhD
Vice President of Support
Rosalie Lewis
Vice President of Public Policy
Dennis Kessler
Vice President of Development
Sandra Weil
Network Liaison
Mark Rudolph
Treasurer
Frances Belzberg,
Co-founder, Director
Donna Driscoll
Director
Marilynne Herbert
Director
Richard A. Lewis, MD
Director
Diane Rudolph
Director
Greet Ruelens
Director
Jeffrey Sherrin, Esq.
Director
John Symonds
Director
Lieve Van Gorp
Director
Mahlon R. DeLong, MD - ex officio
Scientific Director
Janet Hieshetter - ex officio
Executive Director
Paula Schneider - ex officio
Leadership Chairperson
Medical & Scientific
Advisory Council
Mahlon R. DeLong, MD
Scientific Director
Emory University School of Medicine
Ron Alterman, MD
Mount Sinai Medical Center
Michele Basso, PhD
University of Wisconsin, Madison
Anne Blood, PhD
Massachusetts General Hospital
Susan Bressman, MD
Beth Israel Medical Center
Robert Chen, MA, MBChir,
MSC, FRCPC
Toronto Western Hospital
William Dauer, MD
University of Michigan
Susan Fox, MD, PhD
Toronto Western Hospital
Pedro Gonzalez-Alegre, MD
University of Iowa
Joseph Jankovic, MD
Baylor College of Medicine
Bruce Jenkins, PhD
Massachusetts General Hospital
Mark LeDoux, MD, PhD
University of Tennessee Health
Science Center
Jonathan Mink, MD, PhD
University of Rochester
Michael Okun, MD
University of Florida
Joel Perlmutter, MD
Washington University
Antonio Pisani, MD
University of Rome Tor Vergata
Rachel Saunders-Pullman, MD, MPH
Albert Einstein College of Medicine
Andrew Singleton, PhD
National Institute on Aging
D. James Surmeier, PhD
Northwestern University
Jerrold Vitek, MD, PhD
Cleveland Clinic
Cynthia Comella, MD - ex officio
Rush University Medical
Center/Dystonia Study Group
Ted Dawson, MD, PhD - ex officio
Bachmann-Strauss Dystonia &
Parkinson Foundation, Inc.
H.A. Jinnah, MD, PhD - ex officio
Primary Investigator,
Dystonia Coalition
Danilo Tagle, PhD - ex officio
National Institute of Neurological
Disorders & Stroke
Cure Dystonia Initiative Advisory Council
Robi Blumenstein
MRSSI, Inc.
Xandra Breakefield, PhD
Harvard University
Cynthia Comella, MD
Rush University, Dystonia
Study Group
P. Jeffrey Conn, PhD
Vanderbilt University
Jens Eckstein, PhD
TVM Capital
John Holaday, PhD
QRxPharma
Arthur Kessler
DMRF Board of Directors
Elias K. Michaelis, MD, PhD
University of Kansas
David Moskowitz, MD, MA
GenoMed
Christopher O’Brien, MD
NeurocrineBiosciences, Inc.
Robert Pacifici, PhD
Cure Huntington Disease
Initiative, Inc.
Edward Spack, PhD
SRI International
David Standaert, MD, PhD
University of Alabama, Birmingham
Michael Weintraub, MD
University of Rochester & formerly
FDA Office of Drug Evaluation
DYSTONIA DIALOGUE
10 Things You May Not
Know About the DMRF
1
2
3
The DMRF was recognized by the National
Institutes of Neurological Disorders & Stroke as a
model program for patient advocacy organizations.
4
5
The Board of Directors includes individuals with
dystonia, parents of young and grown dystoniaaffected children, and family members of
individuals who are affected.
The Medical & Scientific Advisory Council is
made up of clinicians and scientists who are
not only among the most knowledgeable in the
world but are also innovative thought-leaders
whose accomplishments are shaping neurology,
neuroscience, neurosurgery, and related fields.
DMRF-funded investigators discovered the
DYT1 gene for early-onset generalized dystonia.
The DMRF is a member of the American Brain
Coalition, the National Organization for Rare
Disorders, the American Society for Experimental
NeuroTherapeutics, and is a non- profit sustaining
associate member of the Society for Neuroscience.
6
7
8
9
10
There is a sister organization—DMRF Canada
—headquartered in Toronto.
An Insurance Task Force has been formed to
address coverage and reimbursement problems.
There are approximately 50 DMRF support
groups throughout the United States.
The DMRF has been a part of a legislative advocacy
program—including annual Dystonia Advocacy
Day on Capitol Hill—for over 10 years.
The staff is made up of 11 people.
5
Survey Says…
The DMRF posted an anonymous online survey
about dystonia, the holidays, and stress. The
results are as follows:
Does the hectic holiday
season make your
dystonia symptoms
worse?
Yes
52%
Sometimes
34%
No
14%
Do family members
react awkwardly to
your dystonia at holiday
functions?
Yes
28%
Sometimes
29%
No
43%
How do you deal with stress,
especially during the holidays?
• By trying to simplify holidays as much as
possible (making purchases in advance or via
internet, for example) and learning to say ‘no.’
• I don't overload myself with activities like I
have done in previous years. Now I take time
to enjoy the season.
• Try to get enough sleep during the holidays. I
also have learned to ask for help when I need it.
• Try to stay calm and laugh a lot. I surround
myself with people who really care for me.
• Have another glass of wine!
• One day at a time, then one hour and one
minute at a time.
• Deep breathing, try to get off my feet more,
increase meds, relaxation CDs.
• Hide.
• Exercise, stay busy.
• Pace myself.
WINTER 2009
6
Science Stimulus
Dystonia Coalition Leverages Unprecedented Funding for Research
The DMRF is working hard
to pave the way to new and
improved dystonia treatments.
In addition to pursuing the
ultimate goal of a cure, we
also need to create the roads and
infrastructure to get us there. The
effort to cure a disorder as complex as
dystonia is no small undertaking, and
one that rests heavily on anticipating
the challenges ahead. For example,
do scientists have access to the brain
tissue, cell lines, and animal models
they need for basic research? When a
new dystonia drug is ready to be
tested in humans, how do we ensure
the best investigators are involved?
How do we mobilize the thousands
of necessary human volunteers? To
answer these important questions,
several scientists, research institutions,
and dystonia patient organizations
have come together to form the
Dystonia Coalition.
Members of the
Dystonia Coalition
• Bachmann-Strauss
Dystonia & Parkinson
Foundation
• Benign Essential
Blepharospasm
Research Foundation
• DySTonia, Inc.
• Dystonia Medical
Research Foundation
• National Spasmodic
Dysphonia Association
• National Spasmodic
Torticollis Association
• Tyler’s Hope for a
Dystonia Cure
• We Move
The overall goal of the Dystonia
Coalition (not to be confused with
the Dystonia Advocacy Coalition or DAC) is to foster
collaborations—among scientists, institutions, and
patient groups—that will advance the pace of clinical
research for the dystonias.
In October, officials at the National Institutes of
Health announced the funding of a five year award for
the Dystonia Coalition to advance clinical research on
primary focal dystonias, including cervical dystonia,
spasmodic dysphonia/laryngeal dystonia, blepharospasm,
and others. Leading the Coalition is H. A. Jinnah, MD,
PhD, Professor of Neurology and Human Genetics at
Emory University in Atlanta, Georgia.
The $6.2 million award will allow the Dystonia
Coalition to cultivate a better understanding of the
primary focal dystonias and find
better therapies. This includes
projects to develop a better
understanding of their natural
history, establish instruments
for monitoring symptom severity
in clinical trials, and develop proper
diagnostic criteria. The creation of
a biorepository to store biological
samples to support future research is
also planned, which will make these
resources available to investigators
worldwide.
The DMRF will play an integral role
by providing logistical and planning
support for the Coalition. The DMRF
is well-poised to serve in this capacity
as it is the largest and most established
patient support organization devoted
to dystonia.
DMRF Co-Vice President of Science
Deborah Kilpatrick, PhD, who lives
with cervical dystonia says, “The NIH
award to form the Dystonia Coalition
is a truly landmark event for DMRF,
its members, and most importantly, dystonia patients
and their caregivers. We should all be very proud about
what has been accomplished and enthusiastic about
what is to come."
“We are delighted about the funding of the Dystonia
Coalition and pleased that Dr. Jinnah will be leading
this effort,” says Mahlon R. DeLong, MD, Scientific
Director of the DMRF. “This is a unique opportunity
to provide much-needed attention to these diseases.”
The Dystonia Coalition had its first official meeting
November 5, 2009 to address Career Development
Awards for young investigators and announce small
scale pilot projects. See page 21 to read more about the
Career Development Awards.
DYSTONIA DIALOGUE
Dystonia Investigators
Awarded Multi-year
Federal Research Grant
The National Institute of Neurological Disorders &
Stroke recently approved funding of a multi-institutional
program project to study the “Molecular Etiology of
Early Onset Torsion Dystonia.” This funding, about
$1 million per year for five years, offers a new much-needed
infusion of support for understanding the gene/proteins
and neuronal pathways affected in dystonia as a guide
to therapeutic efforts.
This program will be led by Xandra Breakefield, PhD
and consists of four projects:
7
Get to Know the Editorial Board
Ever wonder about the people behind the Dystonia
Dialogue magazine? The Editorial Board is a group of
volunteers that oversees the content of the magazine to
make sure it reflects the interests and needs of the
dystonia community. They are individuals living with
dystonia, parents, siblings, and advocates. They
represent primary dystonias, secondary dystonias, focal
forms, adult-onset, and childhood-onset. Biographies of
each member are posted on www.dystonia-foundation.org
Editorial Board
Barbara Kessler, Chair
Brian Hoar, MD
Debbi Mack
Diane Rudolph
Kimberly Wolf
Emily Blum
Paul Kavanaugh
Marcie Povitsky
Todd Spotti
1. Understanding the genetic origins of dystonia under
the direction of Laurie Ozelius, PhD, of Mount Sinai
Hospital in collaboration with Susan Bressman, MD
of Beth Israel Hospital.
Tell the Editorial Board what you think of the magazine!
Email them at [email protected]
2. Studies on cellular functions of the dystonia protein
torsinA by Dr. Breakefield and Flavia Nery, PhD of
Massachusetts General Hospital.
DMRF Receives Neurology
Foundation Advocacy Award
3. Exploring possible neurodevelopmental aspects
of dystonia by Pradeep Bhide, PhD and Nutan
Sharma, MD of Massachusetts General Hospital.
4. Creation and characterization of mouse models of
dystonia by David Standaert, MD, PhD and Yuqing
Li, PhD of the University of Alabama. This program
includes a strong clinical core directed by Dr. Nutan
Sharma which will continue to collect samples and
clinical information from a large cohort of dystonia
patients in concert with efforts under the direction of
H. A. Jinnah, MD, PhD of Emory Medical School
and Joel Perlmutter, MD of Washington University.
Collectively these groups will provide resources at a
nationwide level to promote research and clinical trials
in dystonia.
The DMRF was selected as the 2009 Child Neurology
Foundation (CNF) Advocacy Award of Merit recipient.
The CNF is dedicated to
advocating for children and
adolescents with neurological
disorders.
In announcing the award, CNF
states, “The Dystonia Medical
Research Foundation demonstrated
innovativeness and achieved
phenomenal impact on behalf of
the greater community. It gladdens
us that we can honor the organization nominated by Dr.
Jonathan Mink. DMRF is regarded as one of the
strongest organizations providing advocacy while also
engaging the scientific community to pursue research.”
“We are thrilled to receive this award from CNF,” says
DMRF President Claire Centrella, “and truly honored
to be nominated by our esteemed colleague and
longtime friend Dr. Mink.”
WINTER 2009
8
Everything is Perfect
The Art and Philosophy of Diego Jacobson
At the age of eight, Diego Jacobson decided to give
up drawing. He had dabbled in drawing and a little
painting, and concluded he just wasn’t any good.
Around this same time, the earliest signs of
generalized dystonia began to creep into this body.
By thirteen, he was in a wheelchair and a candidate for invasive brain surgery.
Today, Diego Jacobson’s paintings have been shown on multiple continents and have impressed critics around the
world. In January, the Dalia Lucia Caravaggi Fine Art Gallery in New York will exhibit 47 of Diego’s works to celebrate
his 10 year anniversary as a painter. At Diego’s request, an opening reception on January 14 will benefit the Dystonia
Medical Research Foundation (DMRF).
•••
Diego was born in Buenos Aires, Argentina, and raised in New York and Puerto Rico. The brain surgery he went
through at 13 significantly improved his symptoms. “I’m extremely lucky,” he says. “It took care of the dystonia
about 90 percent.” He refuses to let the residual symptoms limit him, though some days are better than others.
“I’m still affected, still have spasms and have a tremor. I can’t write,
but I can type. Sometimes it hurts to paint. It could be a lot worse.”
“Working with the DMRF
seemed like a good opportunity
to raise funds and get the
message out that attitude is so
important.”
~ Diego Jacobson
Diego didn’t begin painting until he was in his 30s. A decade later,
he has amassed a collection of 1,100 works and 25 solo exhibits—the
upcoming show in January will be his 26th. Drawing largely from the
style of abstract expressionism, Diego approaches each painting as an
exploration. “I like to apply paint in what I can only describe as a
random fashion,” he explains, “always keeping a sense of balance on
the canvas, and mixing colors in a nice way. Mostly, I like to cooperate
with the paint and see what appears.”
•••
After building a clothing manufacturing business, completing a Masters degree in Practical Spirituality at the Peace
Theological Seminary in California, and traveling the world, Diego discovered the artwork of former Beatle Paul
McCartney. McCartney’s work moved Diego and inspired him to put paint to canvas.
Diego’s approach to his art is both deep and simple. Painting is a spiritual exercise that connects him to a higher
power and provides a portal for those who view his art to connect with the divine. “I don’t do the painting, per se.
The painting comes through me. It’s a channeling of energy in a way,” he says. “I listen to music, and I paint. It’s
very magical. I like not knowing what the final product will be.”
Diego works quickly, and gives himself permission to be uninhibited in the painting process. He trusts that he
will like the final result, and uses his instinct to sense when a painting is complete. He respects the reaction of every
spectator: “My paintings are like a Rorschach test. The message is different for different people. I’ve had art professors
DYSTONIA DIALOGUE
9
Juice Newton Performs
Benefit Concert
The Dystonia Support & Advocacy Group
of San Diego County hosted "Playing with
the Queen of Hearts, Juice Newton: A Concert
to Benefit Dystonia" on Saturday, October 3
in San Diego. Proceeds from the show—
which a preliminary tally put at $13,000—
were shared between the Dystonia Medical
Research Foundation (DMRF) and the
National Spasmodic Dysphonia Association
(NSDA). Juice performed her first dystonia
benefit concert in 2006.
come see my work and it made
them cry, and it was perfect. Some
people laugh, others keep walking,
and it’s all perfect. Their
interpretation is just as valid as
mine.”
•••
Resisting the urge to judge and
embracing the concept that things
are as they should be are cornerstones
to Diego’s approach to life and art.
“Acceptance is very important,”
he says. “I realized that as you go
through life, maybe I didn’t like
what happened to me, but everything
is perfect. Not in the physical sense,
of course, but on a spiritual level
everything is perfect.” Diego admits
this was not an easy lesson to learn.
“With the right attitude you can
get through anything in life. You
can go through life laughing or
crying—it’s your choice. Deciding
everything is perfect makes the
choice a lot easier. This attitude
helped me with my dystonia.”
Learn more about Diego
and view his paintings at
www.diegojacobson.com.
For more information on
Diego’s upcoming New York
show entitled “Museography
of the Soul: A Retrospective
Exhibition” contact the
DMRF at 800-377-3978 or
[email protected]
or Dalia Lucia Caravaggi
Fine Art at www.dlcfineart.com
Juice Newton has played
two dystonia benefit
concerts since learning
that the President of her
fan club Paul Fowler
was diagnosed.
Martha Murphy and
Paul Fowler organized
a terrific show.
D.C. Hathaway, Martha
Murphy, radio personality
Dave Mason, and NSDA
Executive Director Kimberly
Kuman pause for a snapshot.
Once again, Juice put on a dynamic, high-energy,
and extremely entertaining show with her
talented band. They sang many of her big hits
which were all crowd-pleasers. She spoke fondly
of her late manager and friend Otha Young who
passed away recently due to complications from
cancer and then sang a beautiful rendition of
one of her biggest hits, a song that Otha wrote,
called "The Sweetest Thing."
Carol Curtis opened the show with her personable
style and wonderfully throaty vocals. Both
Juice and Carol were presented with special
awareness awards from the DMRF and NSDA
by NSDA President David Barton and San
Diego Support Group Leader Martha Murphy.
Paul Fowler, Chair of the Concert Planning
Committee and President of the Juice Newton
Fan Club, was also presented with a special
award to recognize all of his hard work toward
the concert. “If not for Paul, there would have
been no benefit concerts in either 2006 or
2009. So we owe him a great deal of thanks,”
says Martha. The events were Paul’s idea, and
Juice and Carol both signed on to participate
after learning that Paul was diagnosed with
spasmodic dysphonia in 2005.
The concert was a meaningful opportunity to
help educate the community about dystonia in a unique, fun way. It was a
very special evening.
10
WINTER 2009
PEOPLE ON THE MOVE
The DMRF’s Volunteer Network is a team of dedicated people in the dystonia community who work tirelessly
to promote awareness and fundraise for research. The DMRF appreciates every volunteer and is thankful for
every effort.
The first annual Oklahoma Dystonia Awareness Jamboree
was a huge success because of the great commitment
and effort of Shelly Holley, her husband Toby Holley,
and their children, Tory Grose and Serenity and Isabella
Holley. The event opened with a dystonia presentation by
Dr. Greg A. Krymple from the University of OK, followed
by an afternoon of live music, kids’ activities, and crafts.
With numerous in-kind and monetary contributions from
local businesses, friends and family, the event raised
awareness and funds for the DMRF.
The first annual
Minnesota Golf
Classic organized
by Wayne Erickson
and his committee
including sister
and DMRF Board
Member Donna
Driscoll raised
over $16,000. Composer and musician Billy McLaughlin
performed. Wayne and his team worked tirelessly to recruit
golfers, collect sponsorships, and solicit donations. The
tournament was such a success that next year’s event is
already scheduled for Aug 16, 2010.
Ed Cwaliniski partnered with a local bar to raise $230 at
the Dysfunctional Comedy Tour on August 28. The show
included comedians Lisa Dapprich, Steve Swanson, and
Mo Mozuch. Donations were collected at the door, and
all proceeds went to the DMRF.
The Gulf
Coast/Mobile,
Alabama Support
Group raised nearly
$700 for research.
Allergan representative Brett Barlow
joined the group for
a summer meeting. Pictured are Betty Harlan, Leader
Robbie Nabors, Breck Browler, Johnnie Dykes, Patsy
Hester, Sarah Enzor, Sharline Hester, and Debbie Deas.
After going nearly a year before being diagnosed with
paroxysmal dyskinesia, 20-year-old Brittney Steeb
wanted to raise dystonia awareness in her hometown
of Bethel Park, PA. On June 20 she and her relatives—
including cousin Danielle Rauch and grandmother
Christine Corradetti—set up a booth at the local flea
market to sell items they no longer needed. They raised
$315 for the DMRF and Brittney was able to meet
several people who have also been diagnosed. Brittney
can’t wait to do another fundraiser.
The Support and
Advocacy Group of
San Diego County
held a summer
‘Shake Your Can’
fundraiser. Pictured
are Bette George,
Leader Martha
Murphy, Mary
Friedel, Susi Pensel, Alex John, and Paul Fowler (and
recording artist Juice Newton!). Read about the group’s
benefit concert featuring Juice on page 9.
The Puget Sound Dystonia Awareness & Support Group
held the 9th Annual “Dystance for Dystonia” Walk/Wheel/
Run in September along the beautiful Tacoma, WA
waterfront. The event raised over $4,000! As usual, the
famous Seattle Seafair Pirates invaded the event. The
support group is led by Cindy DuVal and medical advisor
Patrick Hogan, DO.
DYSTONIA DIALOGUE
Patricia
Bergeron
and
Catherine
Verville
organized
the 4th
Hands for
Movement Freedom benefit piano recital at the Richmond
Library in Vermont. Catherine’s younger brother Alexandre
was diagnosed with dystonia six years ago. Twenty-six
pianists participated including Catherine and Alexandre,
students of Patricia Bergeron. The event raised $375.
Guido and Rita Battaglini
partnered with Chef/Owner
Mark Smith of Tortilla Press
in Collingswood, New Jersey
to host “Dine Out for Dystonia.”
A portion of proceeds from a
designated date in August
was donated to DMRF. Pictured
are Len Nachbar, Mark Smith, Guido Battaglini, Joanna
Manusov (seated), Janice Nachbar, and Rita Battaglini.
We want to hear from you!
Please inform us of your activities and events.
Email [email protected]
Upcoming Events
We hope to see you at the following events!
DECEMBER 23, 2009
Hazleton, Pennsylvania
6th Annual “Help Find a Cure for Dystonia”
Pub Event
JANUARY 14, 2010
New York, New York
Diego Jacobson, “Museography of the Soul:
A Retrospective Exhibition”
JANUARY 26, 2010
Boca Raton, Florida
DMRF Joan Rabbiner Memorial Brunch & Games
For more information on the events listed above,
contact the DMRF at [email protected]
or 800-377-DYST (3978).
11
Dog Day Afternoon
Central Jersey Support Group Hosts
Annual Event
Approximately 300 humans and 95 dogs attended the 4th
Annual Dogs for Dystonia in NJ.
Although the previous day
was chilly, drizzly, and
overcast, the weather on
Sunday, October 11, was
perfect. Ninety-five dogs
and approximately 300
humans converged in a
lakeside field at Turkey
Swamp Park in Freehold,
New Jersey, for the Central
Jersey Dystonia Support and
Action Group’s 4th Annual
Dogs for Dystonia…a dog
walk and so much more.
Attendee Joyce Nachbar
gets some love from a
couple of Schnauzers.
Each dog owner received a goody bag at the registration
desk. Local pet-related businesses, including a veterinarian,
a pet supply store, and a rescue/adoption agency had
exhibit tables. Support group members sold dystoniarelated and other items, and had a Hot Shot station
for photos of pets and children in costume.
After the optional dog walk along the lake there were
demonstrations, games, and contests for both dogs and
people. Prizes were awarded to contest winners and to
the people who raised the most money from sponsors.
Donations are still arriving, but the event organizers
report they raised over $5,000 for the DMRF!
12
WINTER 2009
Today is the Day
The John H. Menkes Children & Family Dystonia Symposium
When adorable 12-year-old Jake Overton
woke up the morning of August 14, he
turned to his mother and said, “Today is the
day I will meet another kid with dystonia!”
MyLon and her
mom traveled
from Philadelphia
to attend the
And from the moment he came into view of the
symposium for
registration area for the John H. Menkes Children &
the first time.
Family Dystonia Symposium, he made it his business
to chat up very man, woman, and child in the room.
The 5th Children & Family Dystonia Symposium
(August 14-16, 2009) was named for John H.
Menkes, MD, the DMRF’s founding
Scientific Director and a famous pediatric
neurologist. He believed that when a child
develops a neurological disorder, the whole
family is impacted by the diagnosis and must
be treated as such with compassion. The
Symposium honored Dr. Menkes’ memory
well. The weekend began with a joyous
welcome party including a concert by
Billy McLaughlin, and included medical
presentations, discussion sessions, a field
trip, and time for socializing and networking.
The John H. Menkes Children & Family
Symposium was a celebration of the amazing
Speaker Kathy Rentfrow cuddles
families in the dystonia community and a
with daughter Kaitlyn.
reminder that no family is alone in their
experience with this disorder.
Families from throughout North America traveled to Chicago to attend this
special symposium. Some had never attended a previous DMRF event while
others have been attending symposium faithfully for years.
Speaker Michele Tagliati, MD was
greeted by many of his patients,
including Allison Peralta.
Musician and composer Billy McLaughlin was presented with a public service award for his role as DMRF Awareness
Ambassador. Billy also performed and hosted a special music session for children.
“I learned dystonia is not the boss of me,” said one young participant.
“I loved everything about the weekend. Everyone was so thoughtful and caring,” said a mother who was able to
participate with her child thanks to a scholarship from the DMRF. “I don’t have much family, but I feel like I
found a new family.”
The Children & Family Symposium is held every two years.
DYSTONIA DIALOGUE
13
Make Plans to Attend
Dystonia Advocacy Day
By Dane Christiansen, DMRF Grassroots Coordinator
Chaperones Silas Courson and Oxana Zabelina pose with
their field trip charges David Rudolph, Nickolas Peroni.
Kelsey Carpenter, and Leasia McKnight.
VP of
Awareness
Barbara
Kessler
presented
Billy
McLaughlin
with a public
service award.
Each spring, dystonia
advocates from across the
country come together
on Capitol Hill. For two
days, these individuals—
patients, friends, and
family members—hear
updates on advancements
in dystonia research
from leading medical
DMRF advocate Joel Farber
investigators, receive
poses with Congresswoman
advocacy training from the Jan Schakowsky.
DMRF’s Washington
Representatives, and meet with lawmakers in the House
and Senate. This is the time when dystonia advocates
raise their united voice to members of Congress and ask
for their support on legislative initiatives that can further
dystonia research and improve patient care.
The 2010 Dystonia Advocacy Day will be held on
Tuesday, May 4 and Wednesday, May 5 at the St. Gregory
Hotel in Washington, DC.
If last year’s Advocacy Day is any indication,
participants at the upcoming event are in for a very
exciting and rewarding experience. In 2009, over 70
dystonia advocates from every corner of America met
with nearly 100 congressional offices and secured critical
support for the dystonia community’s legislative agenda.
In addition, participants were treated to a dinner with
Congresswoman Jan Schakowsky (D-IL-9th) during
which she presented remarks and spoke encouragingly
of their efforts.
Michael Holtvluwer, Amy Yurchision, Zach Haney, Josh
Cusic, A.J. Paolero, and Marina DelRe get ready to attend
the field trip.
The 2010 Dystonia Advocacy Day will be your best
opportunity all year to engage your legislators, educate
them about dystonia, and inform them of how they can
assist the dystonia patient community. This is a unique
experience that should not be missed. Mark your
calendar and start making your travel plans today!
WINTER 2009
14
Botulinum Toxin & Flu Vaccine
Important Information for Patients
Genetic
Researchers
Need Your Help
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. Your
information will be kept
strictly confidential.
You can help to unlock the
mysteries of dystonia. For
more information please
contact:
Deborah Raymond, MS
Beth Israel Medical Center
Phone: 212-844-6053
Toll free 888-228-1688
Email: draymond@
bethisraelny.org
As we enter into flu season and the H1N1 swine flu continues to make
headlines, the DMRF is receiving increasing inquiries about whether it is
safe for individuals who get botulinum toxin injections to get flu
vaccines. The answer is that it is safe to have both kinds of injected
medicines, but some simple precautions should be taken.
Representatives from Allergan and Solstice Neurosciences, manufacturers
of the botulinum toxin products BOTOX® and MyoBloc® respectively,
encourage individuals to discuss the following considerations with
their physicians:
• People who require both botulinum toxin injections and flu vaccine should
ideally get the botulinum toxin injection first, and then wait two weeks
before getting the flu vaccine. If individuals experience any unusual side
effects from the botulinum toxin, they should call their doctor before going
ahead with the flu shot.
• If an individual gets the flu vaccine first, it is recommended that he/she waits
10 days–2 weeks before getting botulinum toxin injections.
Both botulinum toxin and flu vaccines are biological products, which means
side effects are possible. While there is currently no confirmed data to suggest
that taking these concurrently would cause a reaction, given the potential for
individual reactions with each, it is reasonable to consider separating them. This
may simply avoid compounding their potential individual side effects, and
also help discriminate if the side effects are being caused by one injection
versus the other.
People with questions about botulinum toxin injections and flu vaccine are
encouraged to speak with their physicians and contact the drug manufacturers:
Allergan, Inc. (BOTOX®)
http://www.botoxmedical.com/
800-433-8871
Solstice Neurosciences, Inc. (Myobloc®)
http://www.solsticeneuro.com/
888-461-2255
Ipsen Ltd. (Dysport™)
http://www.ipsen.co.uk
+44(0)1753 627700
For more information on dystonia and flu, consult your physician or visit
www.dystonia-foundation.org
DYSTONIA DIALOGUE
15
From A to B
Review of the Botulinum Toxins
Botulinum toxin injections are the mainstay of therapy for cervical dystonia and blepharospasm and, in some cases, may
be used off-label to treat additional dystonias. Three botulinum toxins are approved by the Federal Drug Administration
(FDA) for use in the United States: BOTOX®, Myobloc®, and Dysport™
. Each of these three botulinum toxins is unique,
and they are significantly different from each other. Your physician can determine whether you are a candidate for
botulinum toxin therapy and, if so, which product is appropriate for your particular case.
Botulinum toxins come from living organisms and are therefore called ‘biological products’ or ‘biologics.’ Each of
the three neurotoxins is a protein produced by a different strain of a bacterium called Clostridium botulinum.
Botulinum toxins are classified as type
A or type B. BOTOX® and Dysport™
are type A, whereas Myobloc® is
BOTOX®
Allergan, Inc.
1989
type B. These three botulinum toxins
Myobloc®
Solstice Neurosciences
2000
are
non-interchangeable. The FDA
Dysport™
Ipsen, Ltd.
2009
has given each product a distinct
non-proprietary name: BOTOX® is
onabotulinumtoxinA, Dysport™ is
®
abobotulinumtoxinA, and Myobloc is rimabotulinumtoxinB. The package insert of each product includes a
statement that says: “Units of biological activity of one product cannot be compared nor converted to units
of any other botulinum toxin.”
Product
Manufacturer
Year of FDA Approval
Below are specific features that differ between botulinum toxin products:
• Indications for Use. BOTOX®, Dysport™, and Myobloc® are approved in the United States for the treatment
of cervical dystonia. BOTOX® is also approved for strabismus (i.e., ‘crossed eyes’), blepharospasm (dystonia of
the eyelid and brow muscles), and hyperhydrosis (excessive sweating).
• Manufacturing. The manufacturing processes for biological products are complex, consisting of multiple steps,
and the details of these steps differ for each botulinum toxin product. Differences in manufacturing processes are
an important reason why botulinum toxins are unique and non-interchangeable.
• Doses. Doses of botulinum toxins are given in units of biological activity instead of in weights such as grams or
milligrams. Units refer to the activity of the drug in a biological system, such as the human body. It is important to
note that doses differ for each botulinum toxin product. For example, the recommended therapeutic dose of BOTOX®
to treat patients with cervical dystonia is between 198 and 300 units. The recommended starting dose of Dysport™
to treat patients with cervical dystonia is 500 units, and for Myobloc® the recommended therapeutic dose is
2500–5000 units. As with all medications, dosing mistakes may have negative consequences.
• Adverse Events. Differences in the way biological products are manufactured could result in clinical differences
between the medicines, including the rate of adverse events. For instance, in the treatment of cervical dystonia,
the rates of dysphagia (difficulty swallowing) and dry mouth may differ between botulinum toxin products.
For additional information on botulinum toxins, consult your movement disorders specialist or qualified physician.
16
CANDID KIDS
Young People
with Dystonia
Not as Easy as it Looks
Life with Dystonia by Kayla Prestia
Hi, my name is Kayla Prestia. I am 11 years old. In
July of 2008, I was diagnosed with a large brain
tumor. I had my first brain surgery in August of
2008. For the most part, I have recovered well
from my surgeries. However, as a result of the
surgeries, my left shoulder, arm, and hand have
dystonia.
So, my left arm will often go into different
positions without my control. And, usually, the
more I focus on it the more it does its own thing.
It’s like my arm has a brain of its own.
Living with dystonia can be very
challenging and painful at times.
Sometimes I get really frustrated with my
left arm. And sometimes kids and adults
have made comments about my arm. The
comments are not always easy to receive,
but somehow I get through it. I am trying to
get used to having dystonia, but it’s not as
easy as it looks. I am trying to remember
that I have dystonia, but dystonia does not
have me.
I take a medication called Artane®three times
a day, and it has helped some. And just last
month I had my first round of Botox®injections,
which also seem to be helping some.
This past summer I participated in three research
studies at Stanford University and would love to
participate in more. In addition, I was able to raise
over $2,000 for the Dystonia Medical Research
Foundation. I spoke at my grandpa’s Rotary
International meeting, and I spoke in front of over
500 people at my dance recital. Everyone has
been so supportive!
I would really like to thank Fremont Rotary for
allowing me to speak at their meeting and for
donating to the DMRF. I would also really like to
thank Becky Peretti, my dance teacher and owner
of Bella Dance Academy, for adopting the DMRF.
Becky plans to continue to support the foundation
through ongoing fundraising! Hopefully I will also
be able to do some more fundraising in the future.
Together we can make a difference!
Oh, Brother!
Girl Holds Yard
Sale in Honor of
Sibling
Inspired by her
cousin Ethan
Code’s annual
garage sale to
raise money and
awareness for
dystonia, 11year-old Rachel
Rudolph of Los
had
ly
il
L
d
Angeles asked
ney an MRF.
D
dies Syd
her bud money for the
d
n
a
l
e
friends Sydney
h
e
is
Rac
ale to ra
a yard s
Scrivano and
Lily Zweig to
help her organize and run a
yard sale. They made signs and posted them
in the neighborhood, had a lemonade stand, and
collected items from family and friends to sell at
the yard sale. In less than five hours, they raised
almost $600, and they sent it to the DMRF. Rachel
felt proud that she could do something to help her
14-year-old brother David who has dystonia.
Thanks, Rachel!
17
Dystonia 101
Jake Overt
on is
in the new one of the kids yo
u’ll
DVD called
Kids Like meet
Me.
New DVD for
Kids with Dystonia
The DMRF has a new DVD just for kids
with dystonia. It’s called Kids Like Me.
Daisy the slug will help you understand
dystonia, answer your questions, and
introduce you to other kids with dystonia.
The DVD has videos, little quizzes, and
a slideshow. Special thanks to Megan
Bartlett, Jake Overton, and Madison
Williams for submitting videos that are
featured in the DVD.
Ask your parents to contact the DMRF
and order a DVD. They’re free!
Learning from Lydia
Girl Educates Fellow Students
Lydia Nathans was diagnosed with
dystonia earlier
this year. She
decided to do
a PowerPoint
presentation
to all sixth
graders at
her school.
She also
raised
Lydia is
s
$200 for
and dad een here with
her bro
Robert a
D
ys
tonia Sym t the Child ther Jack
the DMRF.
ren
posium
this pas & Family
t summe
Lydia’s
r.
brother Jack was
diagnosed with dystonia in 2004, and
had deep brain stimulation in 2007.
Great job, Lydia!
Dystonia can be a confusing disorder to understand.
It never hurts to brush up on the basics:
❏ Dystonia is a neurological movement disorder.
It affects the nervous system’s ability to control
the skeletal muscles.
❏ 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 individual has
no other neurological symptoms and the dystonia
is known or presumed 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.
❏ People with secondary dystonia often have other
neurological symptoms, some of which may
affect more than just muscle movement.
❏ 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.
❏ Treatment options include oral medications,
botulinum toxin injections, surgery, and less
invasive methods such as physical and occupational
therapy, and relaxation practices.
❏ The kind of doctor who is typically best trained
to diagnose and treat dystonia is a movement
disorder neurologist.
For more information, visit www.dystonia-foundation.org
WINTER 2009
18
Energy conservation is not just for environmentalists. Adjusting
s
n
o
i
t
s
e
g
Sug
y
g
r
e
n
E
r
fo
n
o
i
t
a
v
r
e
Cons
General
• Plan activities for the day/week to
allow energy ‘budgeting’
• Keep a fatigue diary for two weeks
• Identify what makes fatigue better
or worse
• Select activities that are most
important to you
• Adhere to an exercise program
tailored for you
• Eliminate unnecessary work
• Combine, change the sequence of,
or simplify tasks
• Work in a well-ventilated and
lighted room
• Use both hands whenever possible
• Plan rest periods, properly spaced
• Rest eyes periodically
• Maintain moderate pace, use
slower pace if hot or humid
• Maintain rhythm: saves energy
• Use music as relaxation or
stimulation
• Change body position and motions
• Sit to work instead of standing
• Arrange environment to minimize
bending or reaching
to life with dystonia often means learning to manage fatigue
and/or pain. It may be necessary to find new ways to do
everyday tasks. Below are suggestions from several sources
for conserving energy when it’s at a premium.
Bathing
• Wash hair in shower, not
over sink
• Sit to dry off; use
a terry robe
instead of towels
• Use shower organizer to avoid
leaning and reaching
• Use a shower bench or lawn chair
to sit while showering
• Use a hand-held shower while
sitting
• Use a long-handled sponge/brush
to reach feet and back
• Wrap things that are hard to hold,
such as toothbrushes, writing
utensils, silverware, in a sponge or
foam rubber pad to make them
easier to use
Grooming/Hygiene
• Don’t lean forward unsupported
• Rest elbows on counter or
dressing table
• Use long-handled
brushes/combs to avoid
holding arms overhead
• Use elevated commode seat
• Soap on a long rope enables you to
use it with one hand, and keeps it
from falling. A liquid soap
dispenser may be even easier.
• Install grab bars in your bath or
shower to prevent falls
• Electric toothbrushes make
brushing easier
Dressing
• Organize early so you won’t have
to rush
• Lay out clothes to avoid extra steps
• Bring foot to knee to apply
shoes/socks to avoid leaning over
• Wear slip-on shoes
• Use long-handled shoe horn and
sock aid
• Fasten bra in front, then turn
it around
• Wear button-front shirts rather
than pullovers (for hand problems,
it can be the reverse)
Mobility
• Wear low-heeled shoes
with shock-absorbent
sole/insole
• Use wheelchair for long trips
(i.e. shopping)
• Get a rolling walker with a
built-in seat and a basket for
carrying stuff
• Install ramps
• Move around the house in circles,
not back and forth
• Lead with your strong leg when
going upstairs. Lead with your
weaker leg when going downstairs.
• Stairs: consider putting rails on
both sides, consider a mechanical
chair lift. Put a chair near the top
of your stairs to rest after climbing.
DYSTONIA DIALOGUE
Housekeeping
• Spread tasks out over the week
• Do a little each day
• Delegate heavy work
• Hire help if possible
• Use a wheeled cart or carpenter’s
apron to carry supplies, things to
put away
• Do whatever you can sitting
(e.g. ironing, food preparation)
• Use long-handled dusters, mops,
dust pan, etc.
• Get long pick-up tongs like
gardeners use
• Long-handled sponges to avoid
bending
• A small hand vacuum cleaner may
be easier than using rag or picking
up by hand. Keep it on your cart.
Shopping
• Organize grocery list by store aisle
• Use grocery cart for
support or power scooter
if store has one
• Request store assistance while
shopping and getting to car
• Shop with a friend at less busy times
• Delegate shopping
Leisure
• Wear comfortable clothing
• Use adaptive equipment
• Select less strenuous activities
• Go with a friend
• Use wheelchair or golf cart
19
Meal Preparation
• Assemble all ingredients before
you start
• Use mixes or prepackaged foods (but
check nutritional info!)
• Use cookware you can serve from
• Use smaller appliances
• Buy ergonomically designed utensils
• Transport items on a rolling cart
• Store frequently used items at
chest level to avoid bending
• Let dishes soak rather than scrubbing
• Air dry dishes
• Use a dishwasher
• Delegate dishwashing
• Use a jar opener
• Use a rubber mat or wet towel
under mixing bowls to help steady
while stirring or mixing
• Don’t lift heavy pans off stove.
Ladle food out at the stove.
• Use placemats instead of
tablecloths
• Use lightweight utensils
• Prepare double portions and freeze
half for later
• Obtain support from Meals on
Wheels if you qualify or can afford
• Sit down to prepare food
• Trade meal preparation nights
with a neighbor, friend, or relative
• Have restaurant food delivered, if
you can afford and it’s healthy
Laundry
• Use laundry cart on wheels
• Use automatic washer and dryer,
if possible
• Sit to transfer clothes to dryer,
if possible
• Drain hand washables
and press water out
instead of wringing
• Sit to iron. Use lightweight iron
with spray attachment.
• Hang clothes on doorknob instead
of top of door
• Delegate laundry
• Have laundry professionally done,
if possible
Childcare
• Plan activities to allow sitting
• Delegate some childcare
responsibilities, if possible
• Teach small children to climb on
lap instead of being lifted
• Teach children to make a game of
household chores (or just tell them
to do them!)
Workplace
• Plan workload around
your best times of day
• Arrange workspace ergonomically
• Take rest breaks
"Suggestions for Energy Conservation" was compiled by Eileen Donovan, PT, MEd, a physical therapist at the University of
Texas M.D. Anderson Cancer Center.
Additional suggestions from a long list of practical tips in Living a Healthy Life with Chronic Conditions by Lorig, Holman,
Sobel, Laurent, Gonzalez and Minor (Bull Publishing 1994). Even more suggestions from David Spero, RN, author of
The Art of Getting Well: A Five Step Plan for Maximizing Health When You Have a Chronic Illness (Hunter House 2002).
WINTER 2009
20
Letter to the DMRF
The Girl Next Door
Neighbors Discover They Have Dystonia in Common
Q:
I’ve read that no one
knows the cause of
dystonia, but I’ve also read
that dystonia can be caused
by a gene. Which is correct?
A:
The DMRF often states
in publications that we
don’t know the cause of dystonia.
This is because scientists have
not yet identified the precise
biochemical mechanism in the
body that triggers the symptoms.
Researchers believe that the
mechanism is similar—if not the
same—in all forms of dystonia.
On the other hand, the medical
literature has established that
dystonia can occur as a result
of trauma, certain medications,
or mutations in approximately
20 specific genes. So, we can
observe that the mutated DYT1
gene or physical injury cause
dystonia, but these explanations
do not address the true origin of
the dystonia and what happens
inside the body to produce
symptoms.
When treating an individual
with dystonia, a physician will
try to learn as much as possible
about the events or history that
led up to the onset of symptoms
because this may influence treatment. Physicians may characterize
dystonia as primary or secondary.
For more information, visit the
DMRF website at www.dystoniafoundation.org.
Shirley (left) and Deb
surprised each other when
they met in the hall of their
apartment complex and
realized both had dystonia.
Although dystonia is the third most common
movement disorder, in many areas of the
country it remains difficult to meet others
who are affected. While it’s relatively easy
to connect with members of the dystonia
community on the internet, ironically it sometimes seems easier to meet someone on the
other side of the world than in your own state.
So imagine Deb Weidner’s surprise when
she walked across the hall of her apartment
complex to welcome the new neighbor and
discovered the tenant had dystonia, just like her. “I was shocked,” says Deb,
“because I really now knew there are others out there.” Shirley Dilks, the
new neighbor, was also extremely surprised, “It was amazing and exciting.
Other people I met lived so far away.” The two women became fast friends.
Deb was diagnosed with symptoms of dystonia in infancy and the disorder
has progressed over the years to include her shoulders, neck, and arms.
“I shake all the time, sweat a lot,” says Deb, “but God helps me get things
done. I just might take longer.”
By contrast, Shirley developed a chewing problem in her 30s. She endured
five years of doctors, tests, and mental health referrals before connecting
with a patient organization that put her in touch with a neurologist who
made the dystonia diagnosis. The symptoms affect her chewing and speech,
and became so disabling she underwent deep brain stimulation, which
yielded limited results. Shirley shares that she used to feel embarrassed by
her symptoms but has come to accept the disorder by being as educated
as she can and by promoting awareness. “I have more of a sense of humor
about it too. Some days are hard. Not being able to speak clearly makes
carrying on a conversation difficult. The physical part I have adapted to,
most days. I pace myself but try to stay active.”
The women support each other. “We share something no one else here can
understand,” explains Shirley. Deb admits she has struggled with feeling
“like I am defective, not good enough, tired, embarrassed,” and that it’s
invaluable to have someone like Shirley who knows what she is going
through. “Shirley is sweet, kind, gives encouragement, and helps me
learn more about dystonia,” says Deb. “She helps me smile.”
In turn, Shirley admires Deb’s strength. “Deb is a friendly, caring person
who I am so happy to call my friend,” says Shirley. “Apparently, we are
more alike than we realize—people mix us up, think we are twins or at
least sisters. I would be proud to have her as a sister.”
DYSTONIA DIALOGUE
Dystonia Coalition Announces
1st Career Development Award
The Dystonia Coalition has begun a
Career Development Program as part of
the $6.2 million grant from the Office
of Rare Diseases to advance research
on primary dystonia (see page 6 for
more information). The DMRF is cosponsoring the first Career Development
Award which was announced at the
Dystonia Coalition meeting November
5, 2009 in Washington, DC. The award
was given to Maren Carbon-Correll, MD
of the Feinstein Institutes for Medical
Research, North Shore-Long Island Jewish
Health System for her project entitled
“Sensorimotor Network Activity as a
Functional Imaging Marker for Dystonia.”
Grant recipient Maren CarbonCorrell, MD spoke about her
The results Dr. Carbon-Correll’s study may research at the Dystonia Coalition
lead to the development of biomarkers that meeting November 5, 2009.
would be used to evaluate dystonia severity Photo courtesy of Moshe Zusman
Photography.
and progression across different types of
primary dystonias and also to predict and
assess treatment responses.
The goal of the Career Development Program is to give young scientists
the opportunity to launch their research careers in the dystonia field.
The program called for applications that will advance clinical and
translation research.
Why Not Start Today?
• Go to www.GoodSearch.com and select the
DMRF as your designated charity. Use it for all
your internet searches.
• To shop online, go to www.iGive.com and select
the DMRF as your designated charity. A percentage
of purchases from 800+ businesses will benefit
the DMRF.
• Add a line to the bottom of your outgoing emails that reads:
“I support the Dystonia Medical Research Foundation.
Visit: www.dystonia-foundation.org”
21
Consider Brain
Donation
Brain donors
change lives.
The donated
brain tissue
that dystoniaaffected
individuals and their families
provide after death allows
researchers
to explore the command
central of dystonia. Tissue
samples are crucial to enable
investigators to develop new
and effective treatment therapies
and bring us closer to a cure.
The DMRF partners with the
National Institute of Child
Health & Human Development
Brain & Tissue Bank for
Developmental Disorders
at the University of Maryland
to make this vital research
possible. We need donors
who have dystonia as well as
those who do not. There is
no cost involved, and advance
registration is encouraged.
For more information about the
program and how to become a
registered brain donor, please
contact Martha Murphy, Brain
Bank Liaison, at brainbank@
dystonia-foundation.org or
800-377-3978. Please be
certain to provide your full
legal name, mailing address,
phone number(s), and email
address (if applicable) so that
we can get in touch with you
and mail you information.
WINTER 2009
22
FOCUS ON FOCAL DYSTONIA
Cervical Dystonia
Carol Flynn
Carol Flynn was diagnosed with cervical dystonia in
2005. As a Registered Nurse for 40 years, she had
no knowledge of dystonia until her diagnosis. She
lives in Fairfield, California and leads the Fairfield
Dystonia Support Group.
Dystonia showed Carol,
pictured with grandson
Christopher, that she is
stronger than she thought.
What were your earliest symptoms?
I found myself touching my face and head a lot. I
was suddenly not keeping both hands on the steering
wheel when driving—I kept putting my left hand
up to my face and sort of holding my head. Next
came the head and neck pulling to the right with a
head tilt and tightness. Then the pain in my neck
and upper shoulders hit big time.
How were you diagnosed?
I was very lucky and diagnosed by my neurologist at the first visit. He examined
me closely, put me through a complete neurological exam, and, most importantly,
listened to my story. I started botulinum toxin injections that very day.
How does dystonia impact your daily life?
It makes it more difficult to do everyday things like cutting an onion: One hand
holds the onion, one hand holds my head to look at the onion…now I need a third
hand to cut the onion! I didn’t want to give up nursing, but I just couldn’t do it
any more. I don’t ride behind my husband on his motorcycle any more. I can’t walk
for very long. I have to decline activities that will cause my dystonia to worsen.
• Cervical dystonia is
also known as spasmodic
torticollis.
• Symptoms include
involuntary contracting
of the neck muscles,
causing abnormal movements and awkward
posture of the head
and neck.
• Treatments may
include oral medications, botulinum toxin
injections, surgery, and
complementary therapies.
• Cervical dystonia may
be primary, meaning it
is the only neurological
disorder present.
• Cervical dystonia may
be secondary, particularly
due to physical trauma
or other conditions.
• This is one of the focal
dystonias being studied
through the ORD grant
described on page 6.
What medical treatments help you most?
BOTOX®! Although not perfect and I have had side effects, BOTOX® injections every three months have helped me
the most. I also take clonazepam as needed. Prescription pain medication, which I take as sparingly as I can, often
makes the difference as to whether I can complete the day’s activity or not.
What other strategies or approaches help you the most?
Relaxation, stress reduction, positive thinking. Listening to my body and resting when I need to. I do something
I really enjoy every day. Zero-gravity recliner chairs, microwaveable hot packs. Swimming and floating on my back.
Hot tubs. Stretching neck exercises. Massage. Support groups, meeting other people with dystonia.
What have you learned from living with dystonia?
I am a lot stronger and more resilient than I thought I was! I have a wonderful spouse. Helping other people is one
of the very best and rewarding things I can do. Keeping a diary of my symptoms and response to treatment is very
helpful. Good communication with my doctors is essential. I need to let people know when I am tired and need
to rest, and not feel guilty about it. When people ask me what is wrong with my neck, it offers an opportunity to
increase dystonia awareness, one person at a time. There are a lot of things I can do. I have learned to work around
the dystonia, so I can better control it, rather than it controlling me. I count my blessings constantly. Better treatments,
and maybe even a cure, lie in the future, hopefully sooner than we expect.
DYSTONIA DIALOGUE
23
FOCUS ON FOCAL DYSTONIA
Meet Larry Stahl
Larry Stahl lives in West Hartford, Connecticut and
began experiencing symptoms of dystonia about
10 years ago. He co-leads the Connecticut Dystonia
Support Group and founded the Oromandibular
Dystonia Support Network to serve individuals
affected by this specific form of the disorder.
Becoming an advocate
helped Larry cope with
blepharospasm and
oromandibular dystonia.
What were your earliest symptoms?
My earliest symptom of dystonia was involuntary
blinking. It occurred while on vacation in August
1999. By early November I was unable to drive due
to the frequency and duration of the blinks. So, I
had to leave work on short term disability and thus
began my 14 month, nine day journey for a diagnosis.
How were you diagnosed?
After seeing 25 separate doctors, I was finally correctly diagnosed by the joint
effort of three doctors who concluded I was slowly developing blepharospasm.
I was treated with BOTOX® and was able to return to work.
How does dystonia impact your daily life?
Dystonia impacts my life every moment of every day. Over time my dystonia
spread from my eyelids to my lower face including my chin and now my tongue.
The combination of dystonia and side effects from medication affect my breathing,
chewing, swallowing, and speaking. I have learned to do belly breaths to calm my
system down, allowing me to speak more clearly.
What medical treatments help you the most?
I receive the most benefit from my quarterly BOTOX® injections. It allows me to
function in society. I also get relief from clonazepam, citalopram hydrobromide
(Celexa®), and pregabalin (Lyrica®) even with their potentially addictive features.
Oromandibular Dystonia
• Oromandibular dystonia
(OMD) is a focal
dystonia. It may also be
called cranial dystonia.
• Symptoms include
forceful contractions of
the face, jaw, and/or
tongue causing difficulty
in opening and closing
the mouth and often
affecting chewing and
speech.
• When oromandibular
dystonia occurs with
blepharospasm, it is
called Meige’s
syndrome.
• Treatments may include
botulinum toxin injections,
oral medications, and
complementary therapies
including speech and/or
swallowing therapies.
• OMD may be primary
meaning that the
dystonia is the only
neurological disorder
present and may have a
genetic component.
• OMD may be secondary,
particularly due to drug
exposure or physical
trauma.
What other strategies or approaches help you the most?
Relaxation tapes and biofeedback help. I also enjoy gardening and volunteering
in the community as a way to give back to society for the benefits and good health I still enjoy. And my exercise
regimen gives me more energy.
What have you learned from living with dystonia?
I learned to be a support group leader and a patient advocate. I learned to speak in public and at work about my
ailment without any negativity. I've learned to be more thankful for simple things that others may take for granted,
like eating a meal in a restaurant or speaking on the phone and being understood. Most importantly, I learned that
dystonia is not the end of living. It’s the start of a new chapter in your life. Volunteering provides me with a wonderful
uplifting experience. The camaraderie among support group members can be priceless. Where else do you get to meet
others just like yourself and be able to socialize and network for the benefit of all?
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 [email protected]
WEB www.dystonia-foundation.org
dystonia-bb.org • www.myspace.com/thedmrf
thedmrf.ning.com • dmrfenews.blogspot.com
twitter.com/dmrf • dmrfinsights.blogspot.com
Put your money where your love is...
Show friends and family you care
by donating in their honor
Few gestures are as meaningful as donations to a cherished cause
made in honor of a loved one or friend. If someone you know has
been touched by dystonia, why not make a donation in their name
in lieu of a holiday gift? If you are struggling to discover the perfect
present for that certain someone, give them a gift that empowers
them to be part of the DMRF’s quest for better treatments and a cure.
It’s easy to make a donation in tribute or in memory of someone you care about.
Just go to www.dystonia-foundation.org, click on the “Donate” link, and follow the simple
instructions. You can also donate by phone at 800-377-DYST (3978).
Questions? Don’t hesitate to contact Tammy Reed at [email protected]
or 800-377-DYST (3978).
We appreciate your support! Thank you for your generosity this holiday season, and always.