Dystonia Dialogue - Dystonia Medical Research Foundation

MAGAZINE OF THE DYSTONIA MEDICAL RESEARCH FOUNDATION | SUMMER 2014 | VOL. 37 • NO. 2
Dystonia Dialogue
is Connecting
the Dots
4 DMRF-Funded
Researchers Discover
New Protein
Workshops
5 Scientific
Inspire Targeted
Research
Moves Me
5 Dystonia
Campaign Makes
Awareness Personal
Inside This Issue
4
DMRF-Funded Researchers Discover First
TorsinA Chaperone Protein
BiP Revealed as Potential Therapeutic Target
5
Dystonia Moves Me
Promoting Awareness Gets Personal
16
Impact Events
Families Use Fun and Imagination to Support the DMRF
20
Participate in Research by Volunteering for a Clinical Trial
Studies Offer Access to Cutting Edge Care
23
Personal Profile
Meet Marta Stoeckel-Rogers
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 DMRF is connecting the dots. When the Foundation first opened
its doors in 1976, very little was known about dystonia and how to
treat it. Affected individuals and families had no support groups
to join or educational materials to read. Virtually no research on
dystonia was being done anywhere in the world. Since that time,
the DMRF has been building connections between researchers,
patients and families, medical institutions, collaborators, support
leaders, and other partners to create a strong community of
supporters working toward improving the lives of everyone
with dystonia and advancing research toward a cure.
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
Debbie Durrer
Director of Development
Kathleen Behner
Director of Operations
Larquana Bryan
Information Coordinator
Jessica Feeley
Editor and Special Projects
Martha Murphy
Brain Bank Liaison
Emma Pinto
Development Associate
Jody Roosevelt
Science and Technology Manager
Jan Teller, MA, PhD
Chief Scientific Officer
The progress is inspiring. In this issue of the Dystonia Dialogue, you’ll read about the DMRF’s
latest efforts in research including the discovery of a new protein that is shedding light on
the origins of primary torsion dystonia—read about “Bip” on page 4. On page 8, learn why
the DYT25 dystonia gene may be one of the most significant recent advancements toward
new therapies. On page 16 you’ll read how families impacted by dystonia are supporting
these important scientific discoveries, building awareness, and rallying members of the
dystonia community by hosting local events.
Partial support of the Dystonia Dialogue is provided by educational grants from Allergan, Inc.
and Merz Pharmaceuticals.
Printed in the USA.
© Dystonia Medical Research Foundation
DYSTON IA DIA LOGU E
3
Foundation Update
Dear Friends,
The Merriam-Webster dictionary defines awareness as knowing that something exists. It also
defines awareness as knowing and understanding what is happening in the world or around you.
ART KESSLER
PRESIDENT
JANET L.HIESHETTER
EXECUTIVE DIRECTOR
Before humans had writing, we shared knowledge and experiences by storytelling. The breadth
of human discovery was passed along from one person to the next. Telling stories has propelled
human survival and progress across generations—and across eras of history. Even in the present
atmosphere of pervasive advertising and flashy media technology, we continue to learn through
stories. The experience of a single person has the power to influence countless lives. The desire
to describe what happens to us is part of human nature. There are more ways than ever for
individuals to share their stories with other people and the world.
The act of bringing stories from the dystonia community to the public is a cornerstone of creating
deeper dystonia awareness. Building dystonia awareness is critical to achieving our ultimate
goal of a cure and to providing resources to affected individuals and families, especially those
who have yet to be diagnosed. The DMRF is grateful to everyone who generously uses their
dystonia experience to educate others. For many it is a passion; for some it’s something they do
instinctively without a second thought, and perhaps without realizing the power of their actions.
In this issue of the Dystonia Dialogue, we invite you to help create meaningful dystonia awareness
by telling your story. See page 5 and join “Dystonia Moves Me,” a campaign of individuals across
the country who are promoting dystonia awareness simply by sharing how dystonia affects their
lives. We welcome everyone and anyone to join this effort. Devin McClernan shared his story in
a documentary film that won the Grand Prize at the 2014 Neuro Film Festival and was premiered to
an audience of 5,000 neurologists—a tremendous victory for awareness. Learn more on page 7.
Creating dystonia awareness is a process. Many of us are waiting for that jackpot moment when
a dystonia video goes viral online or a famous pop star decides to make the DMRF her favorite
cause. We continue to be watchful for that opportunity. Until that day, we celebrate the numerous
news pieces that have reached national and local media, the multiple award-winning documentary
films, progress in legislative advocacy, and the moments our members take every day to bring
visibility to dystonia in their own way. The most effective operators in dystonia awareness are,
without exception, those who feel the impact of dystonia each day and use their stories to help
others understand.
We are a community willing to do whatever it takes to move dystonia into a wider public audience.
The successes we have had are the best predictors of the success yet to come. Together we are
making a difference and giving voice to dystonia stories across the country and beyond.
Thank you for sharing your stories and continuing to help improve dystonia awareness.
Art Kessler
President
Janet L. Hieshetter
Executive Director
SUM MER 2014
4
DMRF-Funded Researchers Discover
First TorsinA Chaperone Protein
BiP Revealed as Potential Therapeutic Target
A study co-funded by the DMRF
reveals a critical new clue about the
origins of dystonia. Since 1997,
scientists have known that a mutated
protein called torsinA causes one
of the most severe primary torsion
dystonias, but the function of the
protein remains unknown. A team
of researchers has made important
headway by uncovering a close
relationship between torsinA and
BiP, a well-studied cellular protein
that was not known to have an
association with dystonia until now.
Dystonia is believed to result from
improper signals in the nervous
system that instruct muscles to
contract involuntarily. Researchers
do not yet fully understand the
neurological mechanisms that cause
the abnormal muscle contractions.
Jeffrey Brodsky, PhD, Professor and
Avinoff Chair of Biological Sciences
at the University of Pittsburgh, and
Michal Zolkiewski, PhD, Associate
Professor of Biochemistry and
Molecular Biophysics at Kansas State
University, co-led a study that used
a sophisticated yeast cell model to
investigate several proteins that
interact with normal torsinA and
its dystonia-causing mutant. The
cell proteins belong to a family of
chaperones, which are molecules
that help other proteins take shape
and function properly or, in case
of faulty proteins, disassemble and
deactivate them. When torsinA
is mutated, it cannot function
ARTICLE AT A GLANCE
• Researchers have uncovered
a relationship between two
cellular proteins: torsinA
and BiP.
• BiP is a well-studied protein
that was not previously
associated with dystonia.
• BiP stabilizes normal and
mutant torsinA. It is the
first torsinA chaperone
ever discovered.
• Drugs that target BiP are
in development and may
eventually be candidates
for treating dystonia.
properly and becomes a target
for chaperones— and particularly
for BiP, which appears necessary
to degrade mutant torsinA. BiP
stabilizes both normal and mutated
torsinA in mammalian cells; it is
the first identified chaperone to
act on torsinA.
Dr. Brodsky explains, “For the
first time we identified a cellular
protein—known as BiP—that helps
torsinA attain its proper shape in
the cell. Because drugs that target
cellular helpers such as BiP are in
development, we hope that these
might someday be used to treat
primary torsion dystonia.”
The study also found that
secondary mutations in torsinA
amplify the effects of the defective
protein when the dystonia-causing
mutation is present.
Brodsky laboratory is known for its
expertise in studying cellular proteins
in yeast. The yeast genome makes it
possible to conveniently track genes
and proteins, especially those that
have human equivalents, making it a
valuable model for research on human
diseases. Although the discovery that
the BiP protein modulates torsinA
function was made in yeast, the
researchers were able to validate
the results in human cells.
“The next step is to identify
other cellular helpers that impact
torsinA,” says Dr. Brodsky. This
work is now conducted by DMRF
research fellow Lucia Zacchi, PhD,
Research Associate at Fundacion
Instituto Leloir in Argentina.
Dr. Brodsky adds: “Additional
proteins from her continued analysis
might one day also be targets of
newly developed drugs to treat
primary torsion dystonia.”
Citation: The BiP Molecular Chaperone
Plays Multiple Roles during the Biogenesis
of TorsinA, an AAA+ ATPase Associated
with the Neurological Disease Early-onset
Torsion Dystonia. Zacchi LF1, Wu HC,
Bell SL, Millen L, Paton AW, Paton JC,
Thomas PJ, Zolkiewski M, Brodsky JL.
J Biol Chem. 2014 May 2;289(18):1272747. doi: 10.1074/jbc.M113.529123.
[Epub ahead of print]
DYSTON IA DIA LOGU E
Scientific Workshops Inspire
Targeted Research
For decades the DMRF has brought experts together from
around the world at scientific workshops to assess a
specific aspect of dystonia research and develop a strategy
to advance understanding in that area. Since 1976, the
DMRF has organized nearly 30 scientific meetings and
workshops that have proven to be critical to scientific
progress. Important—often unexpected—new directions
and collaborations result from every meeting.
Beginning in 2014, the DMRF will continue to host
scientific workshops on the most pressing topics in the
field, and one of the outcomes from each workshop will
be a request for relevant research proposals. Kicking off
this new approach to identifying and supporting key
research projects was a workshop entitled, Receptor
Neuropharmacology in Dystonia, February 27–28, 2014
in Miami. Neuropharmacology is the study of neurons
and their neurochemical interactions for the purpose
of developing medications that benefit the brain and
nervous system. Chaired by Jonathan Brotchie, PhD of
Toronto Western Research Institute and P. Jeffrey Conn,
PhD of the Vanderbilt Center for Neuroscience Drug
Discovery, the meeting brought together leaders from
academia, industry, and the National Institutes of Health
to discuss current trends in receptor neuropharmacology
in dystonia and related movement disorders. In the wake
of the meeting, the DMRF released a request for proposals.
Funding will begin this summer, and grants will be
announced in the next issue of the Dystonia Dialogue.
Receptors are a hot topic in dystonia research because
they are convenient targets for drug development.
Receptors are the gatekeeper proteins that control how
neurons receive signals from one another. The recent
workshop was part of the DMRF’s efforts toward drug
discovery and development, as well as finding existing
therapies that are relevant to dystonia.
In the fall, the DMRF will host a workshop on
imaging and networks and expects to release a request
for proposals in the following months.
5
Dystonia Moves Me
Promoting Awareness Gets Personal
Dystonia is a movement disorder—it
also moves people to take action, for
themselves or on behalf of a loved one
who has been diagnosed. Dystonia
Moves Me is a campaign of individuals
across the country who are promoting
dystonia awareness by sharing their stories.
The DMRF is inviting everyone who has been affected
by dystonia to share their stories with 30 people during
the 30 days of Dystonia Awareness Month in September.
Sharing your story—telling someone how dystonia has
changed your life or the life of someone you love—will
promote a deep and lasting awareness in the people you
reach. While national media coverage on dystonia is always
something to be celebrated, Dystonia Moves Me cuts through
the media noise competing for the public’s attention
by bringing awareness close to home. Today’s public is
inundated with advertising and marketing messages—
much of which is ignored or tuned out. Unless someone
personally knows somebody who is living with a rare
disorder, even the most sophisticated public relations
campaign might not make it stick.
You can help others understand what dystonia is and what
it does to those who are affected. You will help put a face
to the word dystonia. Your story will make dystonia
memorable and create a deeper, lasting awareness.
The DMRF has created a Dystonia Moves Me kit to help
you reach 30 people in 30 days. You can request a kit by
mail that includes suggestions on how to reach people,
educational materials, and stickers and buttons with the
Dystonia Moves Me emblem to provide the people you
reach as a token of the campaign.
To request a Dystonia Moves Me kit, email awareness@
dystonia-foundation.org. For more information, visit:
www.dystonia-foundation.org/dystoniamovesme.
September is Dystonia Awareness Month
What are you doing to create dystonia awareness?
Tell us at awareness@dystonia-foundation.org
SUM MER 2014
6
DMRF-Funded Research Reveals Surprising
New Findings about DYT1 Dystonia
TorsinA Protein Linked to Dystonia Symptoms and Loss of Brain Cells
A team of researchers at the
University of Michigan led by
William Dauer, MD, Associate
Professor of Neurology, has published
an extremely comprehensive and
detailed study linking abnormal
torsinA to loss of cells in specific
brain structures responsible for
movement and overt dystonia
symptoms in mice.
“This work is a natural extension
of our earlier studies, supported
by DMRF, which showed that the
DYT1 mutation impairs torsinA
function,” explains Dauer. “What
is new about this study—and very
exciting to us—is linking impaired
torsinA function to the onset of
abnormal dystonic movements.”
Dr. Dauer and colleagues have been
working for years to figure out how
and why a mutation in the DYT1
gene results in a specific form of
childhood onset dystonia. In this
study, published in the Journal of
Clinical Investigation, Dauer focused
on developmental aspects of DYT1
dystonia, which typically starts in
children between the ages of 8 and 11,
seemingly out of nowhere, following
a normal early childhood. However,
even if a child has the DYT1 gene
mutation known to cause this form of
dystonia, if he/she reaches adulthood
without symptoms, the likelihood of
ever developing dystonia is reduced to
next to nothing. This suggests specific
changes in the early stage of brain
ARTICLE AT A GLANCE
• Researchers have developed
a mouse that models the
symptoms and age of
onset of DYT1 dystonia.
• Mutated torsinA appears
to cause loss of cells in
specific brain structures
for a period of time.
• This work makes unprecedented connections between
impaired torsinA function,
neural circuits, and dystonia
symptoms.
• The discoveries from this
work may ultimately lead to
interventions that protect
brain cells from the effects
of abnormal torsinA.
development make the nervous
system vulnerable to the effects
of the genetic mutation. Once
that window of time has passed,
for unknown reasons, the risk of
dystonia essentially disappears.
Dauer and his team have developed
a genetic mouse model of DYT1
dystonia that mimics the human
disorder. These genetically engineered
mice demonstrate overt movement
symptoms of dystonia, marked by
patterned twisting and fixed postures
in the limbs. The symptoms appear in
young mice at a stage of brain devel-
opment equivalent to the typical
human age of onset. These mice
provide a unique and direct
opportunity to study the effects
of abnormal torsinA in the brain.
The mouse model reveals a
correlation between abnormal
torsinA and neurodegeneration,
the death of brain cells. Recent
imaging studies have also observed
subtle cell loss in specific brain
structures in select dystonias.
However, unlike in Parkinson’s
disease or Alzheimer’s disease, in
which neurodegeneration progresses
aggressively over widespread areas
of the brain, the neurodegeneration
seen in the DYT1 mouse model
occurs only in specific brain structures
involved in movement control and
only for a specific period of time
that coincides with the onset of
dystonia symptoms.
Dauer explains: “We’ve created a
model for understanding why certain
parts of the brain are more vulnerable
to problems from the DYT1 gene
mutation responsible for dystonia.
In this case, we’re showing that in
dystonia, the lack of this particular
protein during a critical window of
time is causing cell death.”
The research indicates that the loss
of even a small number of brain cells
from specific structures in the brain
could disrupt the development of
circuits critically involved in move-
DYSTON IA DIA LOGU E
7
ment. Previous studies have shown that torsinA
is engaged in the quality control of other proteins in the cell, so surviving brain cells may be
impaired due to torsinA’s inability to function
properly when mutated.
Dystonia Documentary
Wins Grand Prize at
2014 Neuro Film Festival
The study makes a critical, experimentally testable
connection between impaired torsinA function,
neural circuits, and dystonia symptoms—a tour
de force of experimental neuroscience that opens
up countless opportunities for future studies. The
mouse model will be available to other researchers
to help accelerate understanding of all forms of
dystonia and the search for treatments.
The DMRF extends
congratulations to
DMRF member
Devin McClernan
for winning the
American Academy
of Neurology (AAN)
2014 Neuro Film Festival Grand Prize for his outstanding film,
Dystonia Devin. The Neuro Film Festival is an annual contest
presented by the American Brain Foundation to raise awareness
about why more research is needed to cure brain diseases.
Work in the Dauer lab continues as well: “We are
pursuing several lines of work stemming directly
from these studies. One question we are pursuing
is why some, but not other, neurons are injured
by deficient torsinA function. We think this is a
crucial piece of the puzzle to unravel, because if
we understand why some neurons are able to
withstand the effects of the DYT1 mutation, we
may be able to mimic that difference to protect
the vulnerable cells. Another direction we are
pursuing is using these mice to test potential
therapeutics and—with colleagues here at
University of Michigan including DMRFfunded investigator Dr. Dan Leventhal—to
better understand the changes in brain circuitry
that are causing the abnormal movements.”
In 2006, William Dauer was the very first
recipient of the Stanley Fahn Award, the
DMRF’s most prestigious research grant.
He is a past member of the Medical & Scientific
Advisory Council. Co-author Lauren Tanabe, PhD,
was awarded a two-year DMRF research
fellowship in 2011.
Citation: TorsinA Hypofunction Causes Abnormal Twisting
Movements and Sensorimotor Circuit Neurodegeneration.
Liang CC, Tanabe LM, Jou S, Chi F, Dauer WT. J Clin
Invest. 2014 Jun 17. pii: 72830. doi: 10.1172/JCI72830.
[Epub ahead of print]
Dystonia Devin provides a snap shot into Devin’s experience
with dystonia since his symptoms began at age 13. It premiered
April 30 during the AAN’s 66th Annual Meeting in Philadelphia
to an audience of 5,000 neurologists—promoting awareness
and providing inspiration to others in the dystonia community.
Mark Hallet, MD, Chief of the Movement Control Section
at the National Institute of Neurological Disorders and Stroke
was among the audience. “It’s wonderful that Devin has been
willing to share his story publically. I’m sure it will give other
patients hope. Devin is not only a strong person, but also a
fine cinematographer.”
To learn more about Devin, and to view the five-minute film
on the DMRF website, visit: http://tiny.cc/dystoniadevin.
Stay in Touch!
Sign up for the DMRF's
monthly e-newsletter
for the latest updates
and announcements:
http://tiny.cc/dmrfenews
SUM MER 2014
8
Help Researchers
Find a Cure: Register
as a Brain Donor Today
Brain donation is a
precious gift that
anyone can give
to 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. The DMRF encourages
individuals with all forms of dystonia
to consider becoming brain donors.
Donors must reside in the United States.
(Individuals in Hawaii and Alaska should
contact the Brain Bank Liaison for
information specific to those states.)
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. Recovered
brains must arrive at the HBTRC
within 24 hours from time of death.
Learn more about the program and
begin the simple registration process at
www.dystonia-foundation.org/brain.
Or request information by mail by
contacting Martha Murphy, Brain
Bank Liaison, at brainbank@dystoniafoundation.org or calling 800-377-3978.
Research Reality Check
With Chief Scientific Officer Jan Teller
“GNAL: A Well-Connected Protein”
As researchers continue to discover genes
responsible for dystonia, it becomes more
difficult to keep them all straight. (Just in case
you don’t yet know by heart every name and
abbreviation of all dystonia genes, a cheat sheet
is included with this column.) One discovery
in particular that is generating a lot of buzz is
the GNAL gene and its protein, Gαolf.
What’s the big deal about one more gene and
another unpronounceable protein? GNAL may
be one of the newest genes associated with dystonia, but researchers in
other fields have studied it for years and we can now benefit from the
knowledge and tools they developed.
GNAL might play a pivotal role in several forms of dystonia, including
non-genetic dystonias. We know that Gαolf is critical for mediating
how neurons respond to dopamine, a neurotransmitter critical for
movement control. The protein also interacts with adenosine receptors—
also implicated in dystonia. The protein is pretty well-connected! Simply,
researchers can now place Gαolf at a strategic juncture where “decisions”
about neuronal communication, and ultimately movement, are made.
This is a first: finding a link between a “dystonia protein” and movement
control in the brain.
Unlike most of the other proteins associated with dystonia, Gαolf might
provide an opportunity for pharmacological interventions to manipulate
dystonia-specific signaling inside neurons—and that may lead to novel
treatments. The defects in Gαolf cause DYT25 dystonia, but they may
also reveal universal mechanisms that affect movement control in other
dystonias. We just have to continue to chip away at understanding how
this intricate web of proteins with fancy names really works.
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
DYSTON IA DIA LOGU E
9
Genes & Proteins Associated with Dystonia
Mutations in specific genes cause certain types of dystonia. Here is a chart of DYT-designated genes and
gene markers associated with dystonia, the proteins they encode, and forms of dystonia. Please note that this
is not a comprehensive list of all genes associated with dystonia. Many disorders in which dystonia is a consistent
and dominant feature were described before the DYT labels came into use.
Designation
DYT1
DYT2
DYT3
Gene
TOR1A
Unknown
TAF1
DYT4
TUBB4a
DYT5/DYT14
GCH1/TH
DYT6
DYT7
DYT8
DYT9
DYT10
DYT11
DYT12
DYT13
DYT15
DYT16
DYT17
DYT18
DYT19
DYT20
DYT21
DYT23
DYT24
DYT25
Protein
TorsinA
Unknown
Transcription initiation
factor TFIID subunit 1
β-tubulin 4a
GTP cyclohydrolase 1/
Tyrosine
3-monooxygenase
THAP1
THAP domain containing,
apoptosis associated
protein 1
Unknown
Unknown
PNKD1/MRI
Myofibrillogenesis
regulator-1
SLC2A1/GLUT1 Glucose transporter
protein type 1
PRRT2
Proline-rich
transmembrane protein 2
SGCE
Epsilon-sarcoglycan
ATP1A3
Sodium/potassiumtransporting ATPase
subunit alpha-3
Unknown
Unknown
Unknown
Unknown
PRKRA
Protein kinase, interferoninducible double stranded
RNA dependent activator
Unknown
Unknown
SLC2A1
Glucose transporter
protein type 1
Unknown
Unknown
Unknown
Unknown
Unknown
Unknown
CIZ1
CDKN1A interacting zinc
finger protein 1
ANO3
Anoctamin 3
GNAL
Guanine nucleotidebinding protein G(olf),
subunit alpha
Dystonia
Early onset generalized torsion dystonia
Early onset segmental torsion dystonia
X-linked dystonia parkinsonism
Primary laryngeal and cervical dystonia
- whispering dysphonia
Dopa-responsive dystonia
Adolescent onset torsion dystonia of mixed type
Adult onset focal cervical and laryngeal dystonia
Paroxysmal nonkinesigenic dyskinesia
Paroxysmal choreoathetosis with episodic ataxia
and spasticity
Paroxysmal kinesigenic choreoathetosis
Myoclonus-dystonia
Rapid-onset dystonia-parkinsonism
Multifocal/segmental dystonia
Myoclonus-dystonia
Young onset dystonia-parkinsonism
Autosomal recessive primary torsion dystonia
Paroxysmal exertion-induced dyskinesia 2
Episodic kinesigenic dyskinesia 2
Paroxysmal nonkinesigenic dyskinesia 2
Late onset primary torsion dystonia
Primary cervical dystonia
Primary cranial and cervical dystonia
Primary dystonia of varied anatomical symptoms
and age of onset
Learn more about the genetics of dystonia at www.dystonia-foundation.org
10
SUM MER 2014
Dystonia Advocates Push for Increased Federal
Funding for Medical Research and Access to Care
In an annual visit to Washington, DC,
DMRF advocates joined others
affiliated with the Dystonia Advocacy
Network (DAN) on April 8–9, 2014
to ask lawmakers for increased
funding for the National Institutes
of Health, inclusion of dystonia in
the Department of Defense (DOD)
Peer Reviewed Medical Research Program, and protections
for access to care and treatment. Dystonia advocates
participated in 150 meetings with Members of Congress
and staff to discuss the needs of the dystonia community.
First-time advocate Rebecca Sharp of Pennsylvania
remarked, “Taking part in something as impactful as
Advocacy Day goes beyond any fundraising and awareness
activities I have ever done. It is in a category all on its
own of ‘making a difference’ that connects you with others
who have been impacted by dystonia as well as the people
who have the authority to make decisions and implement
change that affects the entire dystonia community
nationwide.”
Advocate Stefanie Zaia presented Senator Richard
Durbin with the 2014 Dystonia Advocacy Network
Distinguished Public Service Award. Senator Durbin
was instrumental in increasing the amount of funding
available for research through the DOD Peer Reviewed
Medical Research Program. The amount of funding
available to support research projects selected by the
review committees is $200 million, which is $150
million more than the previous fiscal year.
Several advocates worked with reporters upon returning
from Advocacy Day to share their experiences and stories
in local news media, extending the impact of Dystonia
Advocacy Day beyond the two-day event in Washington.
In addition to convening on Capitol Hill each spring,
the DMRF and other DAN member organizations work
throughout the year on relevant legislative and policy
matters. Dystonia advocates are meeting with Members
L to R: NSDA Executive Director Kimberly Kuman,
Diane Zaia, Stephanie Zaia, and DMRF Executive Director
Janet Hieshetter met with Senator Durbin in his Capitol
Hill office to present him with the DAN Distinguished
Public Service Award.
of Congress in their home districts to discuss dystonia
research funding and these ongoing efforts are especially
critical to keeping dystonia included in the DOD Peer
Reviewed Medical Research Program. As an example of
the impact of these ongoing efforts, dystonia researchers
Drs. Pedro Gonzalez-Alegre and Charles Harata recently
received funding for their work through the DOD Peer
Reviewed Medical Research Program. Dystonia was
included on the list of conditions included in DOD
research because of the hard work of the DAN and
the many advocates who collaborated in this effort to
maximize federal research funding.
The member organizations of the DAN are Benign
Essential Blepharospasm Research Foundation,
DySTonia, Inc., the Dystonia Medical Research
Foundation, the National Spasmodic Dysphonia
Association, and the National Spasmodic Torticollis
Association.
If you are interested in participating in the DMRF’s
advocacy efforts, please contact us at dystonia@
dystonia-foundation.org or 312-755-0198.
DYSTON IA DIA LOGU E
11
Douglas Kramer Advocate Award Recipients
Recognized at Advocacy Day
The DMRF was extremely proud to announce the 2014 Douglas Kramer Young Advocate Award recipients:
Kylie McPherson, Hannah Robinson, Rosemary Young, and Stephanie Zaia. These exceptional volunteers
were recognized for their dedication to serving the dystonia community through advocacy and are working
with the DMRF throughout the year on various initiatives at federal and state levels.
About Kylie McPherson
Dystonia struck Kylie when she was
in high school. She was diagnosed
with myoclonus-dystonia years after
the symptoms began and just prior
to departing for her freshman year
of college. At just 19 years old,
Kylie was invited to present her
original dystonia research at the 5th
International Dystonia Symposium
in Barcelona in 2011. She worked as
a Clinical Researcher at Cedars Sinai
Medical Center alongside Michele
Tagliati, MD, one of the world’s leading movement disorder experts. She
is currently building her neuroscience
background as a Post-Baccalaureate
Research Fellow at the National
Institute on Drug Abuse. She has been
featured previously in the Dystonia
Dialogue in a Personal Profile.
About Hannah Robinson
Hannah was diagnosed with doparesponsive dystonia at age seven,
three years after symptoms began.
Although her symptoms are now
managed by medication, she acutely
recalls the upsetting doctors’ visits,
her parents’ fears, and how she was
mistreated by other children. Hannah
believes that as someone who lives
with dystonia, she is in a special
position to bring greater visibility
to the disorder and provide the
disabled community with a platform
to speak and be heard.
Michigan Dystonia Awareness
page on Facebook and organized
the first—and extremely successful—
Dystance4 Dystonia Detroit Zoo
Walk on June 22, 2014 that attracted
500 attendees. Her goal is to help
those with dystonia and their families
not just cope with the disorder but
have opportunities to live their lives
to the fullest.
L to R, back row: Rosemary Young,
DMRF Executive Director Janet
Hieshetter, Hannah Robinson, Kylie
McPherson; front: Stephanie Zaia
and Izzy.
About Rosemary Young
Since Rosemary’s son Kavin was
diagnosed with generalized dystonia
about a year ago, she began advocating for her child by educating
herself about dystonia and sharing
information with family, friends,
her community, and even strangers.
This spring, the Young family
participated with others with
dystonia in a clinic day panel to
share their stories with medical
students at Wayne State University.
She created and manages the
About Stephanie Zaia
After four years of escalating
symptoms, Stephanie was diagnosed
with early onset dystonia in her
late teens. Stephanie is a longtime
supporter of the DMRF. She has
participated in Dystonia Advocacy
Day and attended numerous DMRF
events. Stephanie has shared her
story with local news media,
university news outlets, and in
the Dystonia Dialogue. Stephanie is
consistently starting conversations
about dystonia by proudly wearing
awareness wristbands and t-shirts.
Her sister Julie Banks has competed
in five marathons to support the
DMRF in her honor; awareness is a
passion the entire Zaia family shares.
The DMRF looks forward to
continue working with these stellar
advocates to advance the dystonia
community’s legislative and policy
agenda.
SUM MER 2014
12
New DMRF Website is a
Resource for Patient and
Research Communities
Dystonia 101
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 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.
The DMRF is proud to announce the launch of a new
website (www.dystonia-foundation.org). Visitors to the
updated site will enjoy easier navigation, a new design,
and added resources. Whether you visit the site using a
PC, tablet, or mobile phone you will have full access to
all the valuable content.
The new website was built to reflect the feedback we have
received from members and the research community.
Just some of the new-and-improved features include:
A home page that makes it easier to find what
you need – More intuitive links invite you into the
site, and an improved search function gets where you
want to go, all with the fewest clicks.
An information hub for researchers –
Dystonia investigators and clinicians have easy access
to information describing all aspects of the DMRF’s
research activities and programs.
Resources to help you connect – It’s easier than ever
to find a community event, locate a support group, or
discover online forums to connect with others in the
dystonia community.
We encourage you to bookmark the site, check back
often, and connect with the DMRF on Facebook, Twitter,
and Google+ for announcements as updates and new
content are added.
• 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 DYTdesignated 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
www.dystonia-foundation.org
DYSTON IA DIA LOGU E
13
Ben Beach Claims Record for
Consecutive Boston Marathons
On April 21, 2014, DMRF supporter Ben Beach ran his 47th
Boston Marathon, claiming the record for the most consecutive
Boston Marathon races in history. He has competed about a dozen
times since developing focal leg dystonia, which has severely impacted
his gait. Ben uses each marathon as an opportunity to promote
dystonia awareness by sharing his story in the local media, both in
Boston and his home state of Maryland. The DMRF congratulates
Ben for this remarkable accomplishment and for inspiring others in
the dystonia community and beyond. His record breaking race is
even more profound given the events of last year when a lethal
bombing attack brought the Boston Marathon and surrounding
metro area to a standstill. The Dystonia Dialogue recently caught
up with Ben for a brief interview.
Ben Beach has completed more Boston Marathons
in a row than anyone in the world. He is pictured
with daughter Emily.
DD: What was it like to be back in Boston, especially given the events of last year?
BB: There was an electric current running through Boston this year. There’s always a special feeling in the city on
marathon weekend, but it was extra special this year. Since I was stopped before reaching the finish line last year,
I was particularly eager to turn the corner onto Boylston Street and run that home stretch again.
DD: How do you feel about being the record holder for most consecutive Boston Marathons?
BB: I enjoy finally having the record after so many years of being number two. Of course, it does create additional
pressure. I probably didn’t start thinking much about the streak until I’d run about 10. It’s just something I grew to
look forward to every spring. I intend to keep at it until my body refuses to cooperate. I thought that dystonia would
end my running career, but my legs adjusted to the dramatic change in the movement of my left leg and have allowed
me to run without constant injuries.
DD: How did the race go?
BB: I had a decent first half, but then the heat and my limited training began to take a toll. Because of some faintness
that probably was due to dehydration, I decided I’d better walk it in from the 22-mile mark. I ran about an hour slower
than I’d planned. This year, as in most other long races, I felt that my dystonia eased up over the last 10 miles or so.
My stride seemed smoother. It’s almost like my brain just tires of sending the signal that interferes with my hamstring’s
natural motion and screws up my stride. No doctor has ever blessed that theory, but it seems at least plausible.
DD: How are you doing, overall? How does your dystonia affect you in your daily life and activities?
BB: Dystonia entered my life 12 years ago and got worse over the next few years. Once I was diagnosed and started
getting botulinum neurotoxin injections, I improved a bit and now seem to have plateaued. I walk with a limp, but
it’s not too bad, and at least there’s no pain. The main impact on my life involves running. My gait is a mess, so I’m
much slower. And I cut back my training dramatically to avoid injury that I think would result if I ran too much with
such an unbalanced stride. I am grateful, though, that I can still run and be part of the Boston Marathon. I also am
relieved that it doesn’t affect my bike riding. I am indebted to the people at NIH [National Institutes of Health] who
have helped me deal with dystonia.
14
SUM MER 2014
My Treatment Journey
By Elizabeth Schultz
For years I felt as though I had a
dystonia was idiopathic and began
roommate living inside my body
pursuing treatment with prescriptions.
who controlled my movements. I
We tried medication that did not
have generalized dystonia, with no
work for me. I felt worse. My doctor
known cause, predominated by
mentioned I might be a candidate for
choreiform movements (also called
deep brain stimulation (DBS). He also
chorea). Untreated, I am in constant
mentioned a drug called tetrabenazine
motion. I have trouble coordinating
that had recently been approved
my legs to walk. I look drunk or
for use in the United States to treat
excessively fidgety. When trying to
Huntington’s disease. I knew that
sit still, my body gradually twists,
DBS was very successful for some
from torso to neck and head, and
people and had all but eliminated
my legs wrap around the chair legs.
their symptoms in some cases, but
I find myself twisted and looking
I wanted to pursue non-surgical
down at my chest for no reason. If I
options first. I feel lucky that this
realize what has happened and focus
neurologist had a good working
Elizabeth Schultz was home bound
my thoughts, I am able to untwist my for years before she discovered the
knowledge of this drug. He recomtorso, head, and limbs—only for the treatment plan that works best for her. mended I read about it to make sure
process to start all over again. The
I wanted to try it. The cost and side
constant motion is exhausting. I could do little more in
effects can be significant; the approval process for insurance
a day than care for myself. It took all my energy to keep
can be lengthy. My doctor’s office helped me file the
myself fed and bathed and my personal matters in order.
paperwork to get insurance approval for off-label use.
I had a constant flow of energy inside of me, like a light
As soon as I was approved, I was contacted by a non-profit
bulb constantly burning. It was wasted energy that drained
organization that offers a program to help make the
me. Some days I was too tired to fix meals. I lost weight
medication more affordable. I didn’t even know such
that I have never regained. For three years I lived houseprograms existed and am grateful every day for the
bound and on my own. Multiple visits to neurologists
assistance I receive.
provided no answers as to why I could not control my
body. I had no relief.
Some of the potential side effects are serious, including
depression and suicidal thoughts. Between conversations
I had the good fortune to have a free session with a
with my doctor and the literature he provided, I was very
physical therapist who took an interest in learning about
clear on the risks before I started taking the medicine.
my condition and working with me. When she learned
When I began my prescription, I saw my doctor once a
that I had no treatment or doctor helping me, she
month so that he could monitor my dystonia and the
recommended a neurologist. After having seen many
dosage. We started at the lowest dose and gradually
neurologists with no luck in diagnosis or treatment, I
increased it. After one of the increases, I became depressed.
was skeptical but trusted her when she said he would
take an interest in my case.
I had the best fortune that not only did the neurologist
diagnose my condition during my first visit, but he also
ordered tests to rule out causes. He determined that my
Medications are approved by the Food and Drug
Administration for specific illnesses or conditions
but, once approved, doctors are permitted to
prescribe the medications ‘off-label’ for other uses.
DYSTON IA DIA LOGU E
15
I felt lousy. Knowing that the medicine could be the cause, I spoke to my doctor.
We lowered the dose and the depression went away. On the lower dose, I don’t
have any depression and the medicine is very effective. I have
noticed that the medicine causes fatigue, but I am
less fatigued now than when my dystonia was
not being treated, so I can handle it.
Stress will still cause my movement symptoms to
manifest, so I have to structure my life to minimize stress even while taking the medication.
Today my life is full of activity I never
imagined possible a few years ago. I can
push a shopping cart rather than use
the electric cart. I park in regular
parking places and walk, rather than
look for the closest handicapped
space. I am not too tired to prepare
my meals. I get together with
friends. Best of all I can exercise.
Swimming also helps keep my
movement calm and regular.
Now it’s hard for others to
tell I have dystonia. The
tetrabenazine makes my
“roommate” take a nap.
Oddly enough, sometimes
I miss that other person. I had learned to
live with her. But I don’t miss the involuntary
movements.
I don’t look drunk. I no longer twist. I can
coordinate my legs to walk. I sit in a chair
without wrapping my legs around it. The
medicine calms my movements and that
internal electric energy. I feel calm on the
inside. While I am not able to work, I can
say that I have a good quality of life. It has
been over four years since I started the
medication and am still amazed at the
positive difference it has made for me.
Developing a
Treatment Plan
3There are many forms of dystonia, and
3Doctors and individuals with dystonia must
treatment will vary from person to person.
work together to discover the combination of
therapies that works best in each case.
3There are numerous treatment options, not all of
which are appropriate for everyone. A therapy that
benefits one patient may not necessarily work as
well for another. Individuals may have additional
medical conditions that influence treatment.
3As dystonia research continues to progress, treatment
3The purpose of treatment is primarily to lessen the
options will expand.
physical symptoms of dystonia: the muscle spasms,
involuntary movements, and abnormal postures.
Treatment may also involve treating the secondary
effects of dystonia: pain, changes in daily living, impact
on mood and emotional health, and overall wellness.
Elizabeth Schultz is a lifelong resident of Minnesota. She was diagnosed with generalized dystonia in 2009 at age 45, after
three years of symptoms, doctor visits, and medical tests. She is a CPA and worked in international accounting for a major
agribusiness. Currently unable to continue her work as a CPA due to dystonia, she co-leads the Minnesota Dystonia Support
Group and volunteers for various causes.
SUM MER 2014
16
Impact Events
Families Use Fun and Imagination to Support the DMRF
The DMRF has countless examples every year of individuals and families who make great strides in
awareness and fund critical medical research by hosting local events customized to their communities.
Whether it’s hosting a walk, planning a sports competition, or partnering with a neighborhood business,
local events bring members of the dystonia community together and provide the public with the opportunity
to learn about dystonia in a social, memorable way. Every event is inspired by a family’s desire to
channel the devastation of the diagnosis into a positive force to create a better future for the entire
dystonia community.
The Phelps Family
several frustrating misdiagnoses. Olivia paved the way
for the diagnosis of one-year-old Madison, which came
when Madison was just five months old.
Once Melissa and husband Roger had a solid diagnosis
for the girls, they quickly discovered there were no support
groups or local resources to provide information or
encouragement. Melissa contacted the DMRF and
began learning everything she could about tyrosine
hydroxylase deficiency and dystonia.
Melissa and Roger Phelps are creating awareness and raising
funds for research through the annual Dystance4Dystonia
Cincinnati Zoo Walk. Photo by John Hoffman.
Mother of four Melissa Phelps is on a mission to improve
awareness of dystonia in her northern Kentucky community
and help find a cure for daughters Olivia and Madison.
“There are days where my children can’t just be children
and move freely to play and do things children should
be able to do.” she explains. “They are trapped inside
their own bodies.”
The girls were born with tyrosine hydroxylase deficiency,
a rare metabolic disease that causes generalized dystonia.
They experience painful muscle spasms in their limbs,
hands, feet, neck, face, and tongue as well as complications
affecting their respiratory and gastrointestinal systems.
Olivia, now age four, was diagnosed at 16 months after
After attending Dystonia Advocacy Day in 2013, Melissa
was inspired to host the first-ever Dystance4Dystonia
Cincinnati Zoo Walk. The event attracted over 250 people
and raised $10,000. “It was amazing,” she recalls. The
event provided families with a day at the zoo in support
of dystonia research and DMRF programs. The zoo
location is ideal for a family-friendly event: centrally
located, wheelchair-accessible, and built to accommodate
crowds and children. Melissa is preparing for the 2nd
Annual Dystance4Dystonia Cincinnati Zoo Walk
on September 13, 2014. “My goal this year is to raise
$20,000 and have at least 500 in attendance. We can
do this!” To help create a buzz around the walk and get
a head start on raising funds, Melissa created dystonia
awareness t-shirts for sale in support of the event.
Participants who register in advance are eligible for
door prize drawings throughout the summer.
“Until we have a cure,” she says, “You will find me
working towards the goal of a pain free life and the
freedom to move for my daughters.”
DYSTON IA DIA LOGU E
Melissa was recognized as a DMRF Douglas Kramer
Young Advocate in 2013 for outstanding service in
advocacy. Read about this year's Advocates on page 11.
The Metherell Family
James and Cassie
Metherell wanted
to host an event
in support of
the DMRF that
would stand
out from the
seemingly endless
number of charity
events competing
for attention in
their upstate New
York community.
They created a
cornhole tournament in which
teams compete
James and Cassie Metherell, and sons
in a bean bag
Caleb and Joshua, organized the very
game popular
first bean bag tournament to support
the DMRF.
at tailgate parties
and back yard
barbecues. The first ever Toss4Dystonia fundraiser took
place in 2013 in nearby Rochester, attracting families
and supporters eager for a unique but familiar activity
in support of a meaningful cause. Participants spent the
day playing cornhole, winning raffle items, and enjoying
concessions. The event raised over $11,000. It was such
a success that the Metherell’s are planning the 2nd Annual
Toss4Dystonia Cornhole Tournament scheduled for
September 20, 2014 at Frontier Field. James says,
“We received amazing support for our inaugural event,
and we’re hoping for an even better turnout this year.”
James and Cassie support the DMRF in honor of their
son Caleb, whose dystonia symptoms started at five with
a speech impediment. There was little change for almost
two years, until Caleb suddenly began to bend over
17
uncontrollably in an awkward and painful posture.
“It was agonizing for him to stand, or even sit, unless
he could rest his body in a fetal position,” says James.
“He can no longer speak clearly. He struggles to keep
up with classmates, not due to intellect, but because his
body won’t allow him to speak up in class, sing in
chorus, write notes, or otherwise participate fully.”
Caleb was not diagnosed until he was nearly nine years
old—and after multiple misdiagnoses. A positive test
for the DYT1 gene mutation known to cause dystonia
finally confirmed what was wrong.
Caleb is now 11 years old, and though his symptoms are
partially subdued through medication, James explains,
“My son is growing up in a body that increasingly
refuses to do what he tells it to do.”
Because the DYT1 gene was discovered through research
funded by DMRF, James and Cassie wanted to make a
difference—as well provide a model and outlet for Caleb
to become an advocate on his own behalf. “We need a
cure. It’s also a sad reality that there is often a long time
between symptom onset and proper diagnosis for most
dystonia patients,” James explains. “This can only be
improved through greater awareness among the public
as well as people in the medical field.”
The Power of Local Events
Around the country, DMRF supporters are organizing
creative events in support of dystonia research toward
a cure. These events attract individuals and families
directly impacted by dystonia, and invite the public
to help make a difference while having fun.
DMRF staff members are more than happy to discuss
fundraising ideas and the type of event that may be
best suited for your community. If you are interested in
hosting a fundraising event in support of the DMRF,
please contact us at 312-755-0198 or dystonia@
dystonia-foundation.org
SUM MER 2014
18
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!
In an annual Mother’s Day tradition, the Verville
family and music teacher Patricia Bergeron held their
9th Hands for Movement Freedom piano recital in
Vermont to benefit the DMRF. Alexandre Verville,
whose dystonia diagnosis inspired this annual
concert, also performed.
Fatta Nahab, MD, Associate Professor of Neurosciences
at University of California San Diego spoke at a spring
meeting of the Dystonia Support & Advocacy Group of
San Diego County led by Martha Murphy.
Ability magazine featured DMRF Board Member and
Awareness Ambassador Billy McLaughlin in a story
about his journey with focal hand dystonia and benefit
concert in support of dystonia research earlier in
the year.
Lindsay Nemeth hosted a St. Patrick's Day Raffle to
benefit the DMRF in honor of her brother Nicholas
Ryan Nemeth who struggles on a daily basis with
generalized dystonia. The event raised over $1,300.
Denise Gibson ran the Bloomsday
Run in Spokane, Washington on
May 4 and raised over $1,200
in support of the DMRF. Denise
developed dystonia following a
serious biking accident and
went years without an accurate
diagnosis. She leads the
Dyscoveries Dystonia Support
Group in Spokane, Washington.
Sarah Ernstberger shared her experience with
generalized dystonia with hundreds of students at the
Alpha Omicron Pi - Kappa Kappa Dodgeball Tournament
at her alma mater Ball State University in Indiana.
For years, Len and Janice Nachbar, leaders of the
Central Jersey Dystonia Support and Action Group,
have educated local community leaders about dystonia
and the need for increased awareness and research.
The Freehold Township Committee once again recognized June as Dystonia Awareness Month in Freehold
Township thanks to their dedicated efforts. The couple
also appeared on New Jersey radio station WOBM AM
1160 on the program "Preferred Company” to educate
listeners about dystonia. Len and Janice advocate for
dystonia in honor of their daughter Joanna Manusov
who is affected.
Leader of the Facebook Cervical Dystonia Support Forum
Denise Gaskell shared her story in a short film by
Allergan commemorating the 25th anniversary of Botox®
(onabotulinumtoxinA), the first botulinum neurotoxin
FDA-approved for therapeutic use in the United States.
Mary Sherlinksi developed "Fundraising on the Go"
kits containing dystonia awareness wristbands, ribbons,
and pins and raised over $700.
In April a team of
runners from Moorehead
Communications joined
together to raise awareness
of dystonia and $1,400 for
dystonia research in honor
of friend and personal
trainer Pam Hall.
DYSTONIA DIALOGUE
19
Pat and Bill
Wyatt visited the
office of Alabama
Governor Robert
Bentley where
he signed a
proclamation
in support of
dystonia awareness. Pat leads the Dystonia Support Group of Alabama.
In May, Pat Brogan and his supporters hosted the
1st Annual Dystonia Meets Multiple Sclerosis Golf
Tournament in Drums, Pennsylvania, raising over
$19,500 on behalf of the DMRF and the local
chapter of the Multiple Sclerosis Association.
Tracy Blowers is on the run—
for dystonia! Despite cervical
dystonia, she is competing in a
series of runs/5Ks throughout
2014 in support of the DMRF.
Massimo La Rosa, principal trombone of the Cleveland
Orchestra, raised over $4,000 on behalf of the DMRF
in a special recital with Elizabeth DeMio on piano in
Shaker Heights, Ohio.
In June, Susan
Strawgate Code,
Howard Code, and
their son Ethan
Code-—plus family
and friends—
hosted their
10th Garage Sale
fundraiser for the DMRF. This was their most successful
event to date, raising more than $1,500! To help raise
awareness, flyers were placed on tables. The Codes
are pictured with Grace Coward and Ruth O’Connell.
Rosemary Young and
family hosted the 1st
Dystance4Dystonia Detroit
Zoo Walk on June 22, 2014.
The event attracted 500 people
and raised over $20,000 in
support of dystonia research
and DMRF programs.
Please keep the DMRF informed of your awareness and
fundraising activities so that we may acknowledge and
celebrate your hard work. Contact us at dialogue@
dystonia-foundation.org or 312-755-0198.
The DMRF wishes to acknowledge the generous gifts
received this year in memory of the following:
John Beakey
Guy Benedict
James Billings
Charlie Blau
Julian Brannon
Alice Cleaver
James Gerald Conlon
Marisa DeGray
Arnold Diamond
Robert Dinsmore
Craig Doble
W. Pat Dulaney
Gloria Tyson Dwyer
Tillie Fendo
Ila Foster
Sydney Gelber
Thomas Stephen Grubb
Edward Harris
Marjorie Hassman
Rebecca Ondyna Hogland
Wanda Hurst
Roy Johnson
Ara Elizabeth Johnston
Mary Kolls
Barbara Ladyman
Betty Lacy McClure
Elizabeth McGavock
Julice McWilliams
Michael Molinaro
Regina M. Nelson
Harry Offenberg
C.C. Patel, MD
Virginia Peterson
Paul Petrucci
Rose Pomponio
Marion Raffensperger
Helen Rausch
Louise Scipione
Genevieve Shine
Anita Simon
Bruce Slepian
Vera Stickley
Betty Strawgate
Tuvia Velvel
Robert Virson
April Wolf
SUM MER 2014
20
Participate in Research
by Volunteering for a
Martha Murphy received treatment for cervical dystonia,
free of charge, from an expert movement disorder specialist offering
a cutting edge therapy not yet available to the public—all the while helping to bring new treatments
to market for other patients. How did she manage this? She volunteered for a clinical trial.
Clinical trials are research investigations in which
volunteers help evaluate new drugs, medical devices,
or other applications in strictly scientifically controlled
settings. In the United States, clinical trials are required
before a drug can receive approval from the Food and
Drug Administration (FDA) and is made available to
the public. Trials may be designed to assess the safety
and efficacy of an experimental therapy, to assess
whether a new treatment is better than the standard
approach, or to compare the efficacy of two therapies.
Patients play an invaluable role in the process. The
very nature of clinical trials dictates that these kinds of
investigations would not be possible without volunteers.
Over the years, Martha has taken part in multiple clinical
studies. She helped bring a new brand of botulinum
neurotoxin to market, played a role in investigating a
new brain stimulation technique, and is enrolled in the
Dystonia Coalition National History of Primary Dystonia
Study. “It’s a very rewarding and worthwhile experience,”
she explains. “We’re not only helping ourselves but,
potentially, many others as well. Volunteers are always
needed and we play a very key role in getting products
FDA-approved. I strongly encourage other people to
learn more about clinical trials in your area.” Martha
has lived with cervical dystonia for over 38 years. She
founded and leads the Dystonia Support & Advocacy
Group of San Diego County and serves as the DMRF’s
Brain Bank Liaison.
Why participate in a clinical trial?
There are a number of benefits for people who choose
to take part in research studies:
• The opportunity to play an active role in your
healthcare. Being personally involved in your
treatment is empowering.
• Participants have access to medications and/or
treatments that are not otherwise available outside
of the study and may not be FDA-approved for
several years.
• Study participants receive their study medications
and/or treatments free of charge and may be reimbursed
for travel expenses or paid for their time.
• Clinical trials often take place at leading healthcare
facilities in the country, and the investigators are very
experienced medical specialists.
• Participants not only benefit themselves, but they also
help others by contributing to medical research and,
hopefully, making it possible for the studied treatment
or medication to become FDA-approved.
• Participants have the freedom to leave a research study
at any time, for any reason.
Are there risks associated with participating in a
clinical trial?
Some treatments or devices being tested may have
unpleasant side effects which can range from serious
to life-threatening. In all studies, known risks should be
fully explained by the principal investigator conducting
the study prior to participation. A potential study
participant should also discuss these issues with their
regular movement disorder specialist.
DYSTONIA DIALOGUE
How are volunteers protected in a clinical trial?
Will everything about the study be explained to me
before I agree to participate?
Studies of drugs, devices, or other biological products regulated
by the FDA must be reviewed, approved and monitored by
an Institutional Review Board (IRB). An IRB is comprised
of physicians, researchers, and other experts who are given the
role to ensure that the study is ethical and that the rights and
well-being of the study participants are protected at all times.
Complete information about a study must be given before a
person agrees to participate in a clinical trial. This is known
as informed consent. This information includes:
• Why the study is being done
• What the researchers hope to accomplish
• The duration of the study
• What will happen during the study
• Other available treatments that the participant
may want to consider
• Possible risks or complications of participating in the study
• Potential benefits of participating in the study
• That the participant can leave the study at any time
• Who should be contacted with questions about the study
21
Questions to Ask When
Considering Volunteering
for a Clinical Trial
Before consenting to take part in a
clinical trial or study, feel free to ask
the investigators any questions you have.
For example:
• How will it be determined what
treatment I receive during the study
(drug or placebo?) Will I know whether
I received the treatment or placebo?
• What kinds of tests or exams will I
have to take while in the study? What
is involved in those tests and how
much time will they take?
• How often will I have to go to the clinic/
hospital during my study participation?
How do I participate?
• Will I be hospitalized? If so, how often
and for how long?
If you are interested in learning more about participating in
a clinical trial, first consider asking your movement disorder
neurologist if he/she is aware of any studies that are recruiting
volunteers. Additionally, below are two websites that allow you
to search for clinical trials by key words and specific disorders:
• Are there costs associated with participating in the study? If so, who will pay
for them?
National Institutes of Health Clinical Trials
www.nih.gov/health/clinicaltrials/
Center Watch Clinical Trials
www.centerwatch.com
The DMRF is bringing the successes and challenges of
clinical trials for dystonia to a national platform. Executive
Director Janet Hieshetter was invited to present at the
• What happens at the completion of
the study? Will there be any follow-up?
• If I benefit from the medication/treatment,
can I continue to receive it after the study
is completed?
• Who will oversee my medical care while
I am participating in the study? Do I
continue to see my regular doctor?
• What are my options if I am injured in
the study?
Society for Clinical Trials annual meeting and invited by
the National Institute of Neurological Disorders & Stroke
to join an INSPIRE Workshop panel to discuss how a
rare disease community prepares for clinical trials.
• Can I receive information about the
outcome of the study?
22
CANDID KIDS
Red Light, Green Light!
DMRF Offers New
Fact Sheet for Kids
Dystonia is a complex disorder, but a new fact sheet
uses the red light/green light game as an analogy
to explain dystonia in a way children can understand:
Your brain is the traffic light that tells your muscles
when and how to move. Dystonia makes it hard for
the brain to give muscles the right signals at the
right time.
Download the fact sheet at: http://www.dystoniafoundation.org/what-is-dystonia/printed-publications
Young People with Dystonia
Critter Cuffs
Support DMRF
Created by DMRF member Avis Brodess, Critter
Cuffs are wearable stuffed toys that adhere to a
special Velcro cuff. There are four interchangeable
critter characters: Paco the Penguin, Kiah the
Koala, Moka the Meerkat, and Flame the Dragon.
A portion of sales will support dystonia research
and DMRF programs. Critters are $14.95 plus
$7.95 for shipping and handling. For more information, go to: www.crittercuffsfordystonia.com.
DYSTONIA DIALOGUE
23
PERSONAL PROFILE
Meet Marta Stoeckel-Rogers
Marta Stoeckel-Rogers is diagnosed with
oromandibular and shoulder dystonias. In late
2013 she ran the Twin Cities Marathon—her
very first marathon—in support of the DMRF.
How did your symptoms
begin and how were
you diagnosed?
I’ve got oromandibular
dystonia, and that started
when I was 16. I was
having TMJ issues
[temporomandibular
joint disorder] and out
of the blue started getting
painful spasms in my
jaw and this consistent
Marta is a high school science tremor that looked like I
teacher in Minnesota.
was shivering. My orthodontist had no clue what was going on and he sent me to
see a couple other jaw specialists and they were clueless.
Finally one of these specialists did an online search of
my symptoms, and found the Dystonia Medical Research
Foundation website. The description of oromandibular
dystonia he found there seemed to match my symptoms.
I saw a movement disorder neurologist and he diagnosed
me. Started botulinum neurotoxin injections, but they
weren’t much help. So my oromandibular dystonia
treatment has mostly been medications and stress
management.
I also have functional dystonia in my shoulder. That
cropped up toward the end of my first year of teaching,
in 2009. My shoulder started jerking, and having already
been through the oromandibular dystonia diagnosis, my
neurologist was one of my first calls. After some tests he
explained it was functional dystonia while the dystonia
in my jaw was an “organic” dystonia. As soon as the school
year was over I spent a week at a major movement disorder
center doing physical therapy and occupational therapy.
I got some pretty big improvements in my shoulder
from that. When I first went down there my shoulder
tremor was pretty constant, but now I have to be pretty
tired or pretty stressed out for the shoulder to start jerking.
I have exercises for my shoulder I do every day.
How does dystonia impact your daily life?
On a pretty good day, you probably wouldn’t notice much
is wrong with me at a glance. In my jaw, the tremors are
constant but I’ve learned ways to position it where the
amplitude stays pretty small, so it’s usually not noticeable
to other people. On a really bad day, my shoulder and
my jaw are twitching and painful usually before the end
of first period at school, and I’ll be like that all day. I’ll
do some posturing and my head gets pulled to the side
and I get pulled into kind of a hunched over position
and visibly twitching quite a bit.
What helps you cope?
Especially with the functional dystonia, stress is a huge
trigger for my symptoms. I work very hard to keep my
stress well managed. And I’m lucky my husband is very
willing to accommodate my needs as necessary. One really
important thing for me has been running. For some reason
it’s effectively an off-switch for the dystonia in my shoulder.
So at the end of a work day, I go for a run and pretty much
no matter how bad my symptoms are, within a couple of
minutes of running you wouldn’t know anything was wrong
with my shoulder any more. And then I get a little while
before I start twitching again. Exercise for me has been a
really good stress relief. Coping with needing more sleep
has been one of the big challenges for me too.
Why is it important to you to support the DMRF?
I’ve received a lot of benefit from the DMRF over the
years and would like to support their efforts to continue
offering the kinds of resources I’ve benefited from as well
as research toward better treatments and a cure. There is a
certain amount of self-interest in supporting the research.
I do hope I’ll benefit from dystonia research either in
improved treatments or maybe even a cure someday. Even
when research doesn’t necessarily lead directly to new
treatments, it still helps teach us something new about
how the brain works and how the body works and you
never know where that will end up leading.
Find more information about oromandibular dystonia and
functional dystonia at www.dystonia-foundation.org.
Dystonia Dialogue
Dystonia Medical Research Foundation
One East Wacker Drive • Suite 2810
Chicago, Illinois 60601-1905
PHONE 312 755 0198 • 800 377 DYST (3978)
WEB www.dystonia-foundation.org
August 11, 2014
Minnesota Dystonia Golf Classic
Cottage Grove, MN
Upcoming
Events
September 12–14, 2014
Ross Wolf is Racing4Dystonia
Monterey, CA
September 13, 2014
2nd Annual Cincinnati Dystance4Dystonia Zoo Walk
Cincinnati, OH
September 20, 2014
2nd Annual Toss4Dystonia Cornhole Tournament
Rochester, NY
September 21, 2014
Dystance4Dystonia Pittsburgh Zoo Walk
Pittsburgh, PA
September 27, 2014
Dystance4Dystonia Cleveland Zoo Walk
Cleveland, OH
November 16, 2014
Mid-Atlantic Dystonia Symposium
Silver Spring, MD
See www.dystonia-foundation.org for
additional events as dates are confirmed.