MyJobChart.com Hits the Road Fundraising News Patient Advocacy

courage
FA L L 2 0 1 4
Volume 38 | No. 3
05
10
Celebrating MyJobChart.com Fundraising
Our History Hits the Road
News
16
21
Patient
Advocacy
2014 Continuing
Education
Scholarship
Recipients
Salute to MPS
Society’s Third
Decade
MPS families get a
helping hand
New sub-committees
have big impact
Focal points for
the future
A Bright
Future
29
The National MPS Society’s office (ground floor on left).
Do you have a personal story or an article idea for a future issue of
Courage? Please write to us and remember to send photos!
ISSUE
SPRING
S U B MI S S I O N C U T OF F DAT E
January 1
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April 1
ISSUE
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July 1
To submit information to Courage, please send text (preferably via e-mail)
to the address below. Photos should be labeled whenever possible. Please
note cutoff dates. Any information received after these dates will be
included in the subsequent issue.
The articles in this newsletter are for informational purposes only, and do
not necessarily reflect the opinions of the National MPS Society and its
board of directors. We do not endorse any of the medications, treatments
or products reported in this newsletter, and strongly advise that you check
any drugs or treatments mentioned with your physician.
Courage reserves the right to edit content as necessary.
ISSUE
WINTER
S U B MI S S I O N C U T OF F DAT E
October 1
National MPS Society
PO Box 14686 / Durham, NC 27709-4686
t: 877.MPS.1001 / p: 919.806.0101 / f: 919.806.2055
e-mail: [email protected] / web: www.mpssociety.org
contents
TA B L E O F
02 Letter from the President
03 Letter from the Executive Director
04 Letter from the Development Director
04 Letter from the Program Director
05 Continuing Education Scholarship Recipients
09 Upcoming Events
10 Salute to Our Third Decade
12 Standing Ovation
16 Making Headlines
18 Fundraising News
22 Family News
23 Legislative Update
31 Research News
40 Resources and Helpful Information
46 T-shirt Order Form
49 Remembering Our Children
50Donations
51 New Members
52Classifications
53 Board of Directors
01
ON THE COVER
Aidan Carter (MPS II)
Brea Gates (MPS III)
Holden Guilfoyle
(MPS VI)
M I S S I O N S TAT E M E N T
The National MPS Society exists to find cures for MPS and related diseases. We provide
hope and support for affected individuals and their families through research, advocacy and
awareness of these devastating diseases.
LETTER FROM THE
02
president
HAPPY 40TH ANNIVERSARY, AGAIN!
IN CONTINUED RECOGNITION
of our 40th anniversary, please
review the timeline on page 10
celebrating the Society’s third
decade (1995–2004). This decade
holds a special place in my heart
as Amy and I were elected to the
board of directors in 1998, I served
as treasurer from 1999–2002 and
began my first term as president
in 2003. So I had a front row seat
for most of these achievements.
However, more important events
during this decade include the
hiring of Barb and Laurie, and the
most important event—the very
first FDA approval of a drug for an
MPS disease, Aldurazyme for MPS I!
In June, I had the opportunity to
present testimony to the FDA on
my family’s experiences with MPS
over two days. The first day was
dedicated to addressing reactions to
enzyme replacement therapy, an
issue often faced by MPS II families.
The second day focused on the
neurological effects on the inborn
errors of metabolism, which
includes all of the MPS diseases.
See page 24. In addition to panel
speakers, several MPS families
participated in the group
discussions. As a disease group,
MPS was better represented than
any other and I thank all of the
families that participated.
In August, I was able to attend the
International MPS Symposium in
Brazil. It is always exhilarating to
meet with Society representatives
of each of the countries and meet
many individuals with MPS from
the host country. See the picture
of me on this page with several
beautiful Brazilian young ladies
with MPS I. You have often heard
me exclaim over the increased pace
of MPS research in recent years,
and I must do so again. There are
many different research projects
that are at the cusp of entering the
clinic and benefiting our kids. Many
of these are beginning in 2015.
I think we will some day look back
and recognize 2015 as a pivotal year
in beginning to treat many of our
kids who have been waiting so long.
The fall issue of Courage is always
one of my favorites as it presents
wonderful background information
on the Continuing Education
Scholarship recipients for the year.
Please see those write-ups of both
individuals with MPS and their
siblings on page 5. These young
people are the future of our Society.
I also want to direct you to the
Rising Sun Legacy Circle members
listed on page 20. These individuals
have accepted the challenge of
remembering the Society through
a planned gift. This is a relatively
new program that we hope will
grow each year. Find out more
information on planned giving and
how to add your name to the Rising
Sun Legacy Circle on page 19.
I know many of you are busy
making plans to attend the Society’s
2014 Annual Family Conference at
Disney in Orlando, FL, this
December. The Society’s staff,
board members and family
volunteers have been hard at work
planning another great conference
that your whole family will enjoy.
And who doesn’t love Disney? Let’s
see if we can break our previous
Disney conference record of 800
attendees. Don’t miss out! I hope
to see you all there! r
Steve Holland
Steve Holland, Society president, with four Brazilian ladies in their 20s and 30s with an attenuated
form of MPS I.
LETTER FROM THE
executive director
THE ADAGE “A PICTURE IS
WORTH A THOUSAND WORDS”
definitely speaks to the photo
shown here. The 13th International
MPS Symposium was held in
mid-August in Bahia, Brazil, and
was attended by a unique blend of
more than 1,000 professionals and
families globally. Stephanie Bozarth,
Steve Holland, Mark Dant and I
represented the United States. The
symposium emphasized education,
collaboration and inspiration, with
the focus on new therapies and
treatments. Joining us at the
farewell dinner were leaders from
the Canadian, U.K., Irish and
Turkish MPS Societies, plus Dr.
Steve Walkley and Dr. Roberto
Giugliani.
Prior to the symposium, the
International MPS Network met for
two days. The network is comprised
of leaders of our global MPS
Societies, and we heard updates
about proposed clinical trials and
those in progress, all of which are
reported in the research section of
Courage. The next International
MPS Symposium is July 14–17, 2016,
in Bonn, Germany. The United
States received conditional approval
to host the 2018 symposium. We
will submit a formal bid to the
International MPS Network for
final approval.
A global survey of adults with MPS,
sponsored by BioMarin, is in
progress. BioMarin is hosting a
meeting in October, bringing
together experts involved in the
management of MPS who have
experience managing the transition
to adulthood from both a medical
(Standing, from l. to r.): Stephanie Bozarth, Barbara Wedehase, Steve Holland, Dr. Roberto
Giugliani. (Seated from l. to r.): Christine Lavery (U.K.), Fer Pidden (Turkey), Mary Boushel
(Ireland), Dr. Steve Walkley, Jonas Harkins, Kirsten Harkins (Canada), Mark Dant
and social point of view. The goal is
to define global messages which can
be published and available to all
professionals. We have entered a
providential era whereby individuals
with MPS have a future to look
forward to, thanks to treatments,
and we must be prepared to
educate about their needs and
provide the services required.
about those grants in our next issue
of Courage. Funding research grants
comprises the largest percentage of
the Society’s budget, showing the
commitment of our members to
our mission to find cures. In this era
of reduced funding to the National
Institutes of Health, our grants are
critical for moving MPS research
forward.
The 10th anniversary of Naglayzme,
the enzyme replacement therapy
for MPS VI, will be celebrated in
2015! While in Brazil we met
with the U.S. and U.K. primary
investigators of the Naglazyme
clinical trials, plus the U.K. MPS
Society, to discuss how best to honor
individuals whose participation in
the clinical trials paved the way for
final approval. The details are not
finalized, but we will host an event
for these individuals in the spring
of 2015.
Finally—Disney. Registrations
continue to come in as people hear
what a stellar program we have, plus
the fun extras! We’re working on
details for the prom, writing the
program book so we’re ready to
transfer it to our new conference
app, and working with the Chapin
family in Orlando on a couple of
surprises, plus securing childcare
volunteers. We have more adults
registered for the SPIRIT conference
than attended in Boston, which
is fabulous! The deadline for
registration for all three conferences
and for the hotel is Nov. 26. We
can’t wait to see you in a few
months! r
Read on page 34 about the research
grants awarded so far this year. We
are in the process of awarding our
second group of grants for 2014,
and we’ll have more information
Barbara Wedehase
03
LETTER FROM THE DEVELOPMENT DIRECTOR
04
FALL MEANS WALK/RUNS,
the Annual Fund and preparing
for our Annual Family Conference
at Disney! We are excited for
attending families to learn about
fundraising for cures at the
fundraising concurrent session,
which will include Disney magic
and surprise takeaways. The
Fundraising Committee will break
into three subcommittees this year.
Our focus is to help foster and grow
fundraising campaigns. Read about
these subcommittees on page 21.
The 13th Annual Fund campaign
is under way; you should have
received information about this
in the mail. We are honored to
have Lynn Hopkins as chair for
the 2014 Annual Fund. Lynn is
the mother of Michelle Hopkins
(MPS I). She shares her story of
how Michelle’s fighting spirit led
and host family and friends for a
day or night of fun! Read more
about the 2014 Annual Fund on
page 18.
their family through a heroic bone
marrow transplant while waiting for
research to develop for a cure for
MPS I. The ability for the Society to
continue valuable programs would
suffer without your contributions
to our Annual Fund. It supports
Society operations, family support
programs and our legislative
advocacy efforts. Please make a
donation and recruit friends, family
and colleagues to our cause. Start
an Annual Fund awareness event
There are so many ways to raise
funds for the National MPS
Society! Be sure to check out the
Fundraising Toolkit on the website
under “Members Only.” Whether
you have a Courage Page, bowla-thon, run a race, host a dinner
party or try one of our Ask Events,
we are here to help guide you to
success.
As always, we welcome your ideas
and interest. If you would like to
join one of our committees and
help raise funds for the National
MPS Society, contact me at
[email protected]. r
Terri Klein
LETTER FROM THE PROGRAM DIRECTOR
THE 28TH ANNUAL FAMILY
CONFERENCE is shaping up to
be amazing! We are fortunate to
be able to celebrate our 40 years
of achievements at such a magical
place. We are excited to see both
our conference “regulars” and
many first timers. Coach Jerry and
his team are preparing for Camp
Courage, and the program and
speakers are all shaping up to be
spectacular! We also are excited
to offer two special conferences:
CYCLE (Celebrating Your Childs
Life Experience) and SPIRIT
(Strength, Purpose, Independence,
Resilience, and Initiative Together)
for affected adults. These promise
to be great sessions.
Are you having a difficult time
getting insurance to approve a
durable medical item, or are you
traveling to visit an MPS specialist
soon? Remember, Family Support
Programs are available to help.
The Family Support Committee is
always looking for new members.
(see page 22). Your commitment
to bring Ohio families together is
amazing. Thanks also to Carolyn
Keeney and her crew for hosting
the Kentucky event. Perhaps you
would like to host an event in your
area—remember we can help.
If you’ve ever thought about doing
something to help the Society,
volunteering as a committee
member is a great (and easy)
way to get started. The Family
Support Committee helps review
and select recipients for the
Continuing Education Scholarships,
conference travel scholarships, and
Family Assistance Program and
Extraordinary Experiences requests.
Please call me so I can share details
with you—we would love to have
your help and expertise.
Thanks to Rachel Wojnarowski
and her family for hosting the
12th annual Ohio MPS gathering
It has been touching to work with
the Murset family as they selected
the National MPS Society to join
them on their Chores Across
America tour. We thank them for
including our families and helping
with the day-to-day chores that
often get neglected in the craziness
of living with a rare disease. Read
more about this on page 16. If you
have not seen the news stories,
Google “Working across America,”
you may see some familiar faces!
I look forward to seeing you in
December. If you are unable to
attend this year’s conference, we
hope to see you in Salt Lake City
in 2015! r
Laurie Turner
S O C I E T Y A N N O U N C E S C O N T I N U I N G E D U C AT I O N
scholarship recipients
Congratulations to all those who applied for the 2014 Continuing Education Scholarship
Program. The Family Support Committee is pleased to be able to offer 27, $1,000
scholarships for individuals affected with MPS and related diseases, and their siblings
and children. Scholarship awards will help the following individuals as they continue their
secondary education. Congratulations and best wishes to all of the following applicants
who shared their plans for the future.
Katherine Basquill-White
Samuel Caswell
Bryce Chesser
sister of Adam (MPS I)
MPS I
MPS II
I currently am a junior attending
the University of Central Florida’s
nursing program. I am involved
in the university’s Army ROTC
program. I enjoy spending time
with my family and friends and
playing with my new puppy, Ellie.
My name is Sam Caswell and
I am 18 years old. I was diagnosed
with MPS I when I was almost
9 months old. I live in Bedford,
NH, with my mom and dad, sister
Jenna, dog Charlie, and three
cats—Rupert, Jack and Holiday. My
sister (who was 6 at the time) gave
me her life-saving bone marrow in
1997, shortly after my first birthday.
I have had 22 surgeries over the
years, and graduated with honors
from high school this June. I will
start college this fall and hope to
become a motivational speaker and
writer. In my spare time I enjoy
watching movies and TV, reading
and playing basketball.
I was diagnosed with MPS II when
I was 4, and the experiences that
followed have taught me things
I never would have learned
otherwise. The pain I have endured
has allowed me to obtain a level of
maturity years ahead of my peers,
and a sensitivity that comes with a
new-found appreciation for life. As
a result of having MPS, I also have
experienced things I never would
have, such as being on television
and meeting two presidents. I
refuse to let my ailment keep me
from pursuing my passions, such as
artistic endeavors, and success.
Adam Basquill-White
MPS I
My name is Adam Basquill-White.
I was diagnosed with MPS at age 9
and received enzyme replacement
therapy at Arnold Palmer Hospital
until I was 14. I was then able
to start receiving treatments at
home due to my starting high
school. I have been fortunate to
be supported by a loving family,
great doctors, Genzyme and the
MPS Society throughout all of these
years. I currently am a freshman at
Seminole State College of Florida,
where I am pursuing a degree in
accounting before transferring to a
university to complete a bachelor’s
degree.
Brooke Dalton
sister of John (MPS IIIA)
Ronnie Jay Cato
MPS II
My name is Ronnie Jay Cato
and I am 18 years old. I recently
graduated from Armorel High
School. I love to play video games
and read books. I am excited but
also a little scared about going
to college. I know I want to do
something that involves computers,
I’m just not exactly sure what yet.
I plan to attend my local college.
I am 18 years old and currently
a first-year chemistry major at
Northern Arizona University. I’m
from Southern California and
my brother has MPS IIIA. With
my degree I hope to research
important issues in today’s world.
continued >>
05
>>
scholarship recipients
06
Ryan Dant
Anyssa Guajardo
Shelby Key
MPS I
sister of Karina (MPS IIIA)
sister of Chloe (MPS IIIA)
I spent one summer working in
the visiting clubhouse of the Texas
Rangers baseball club, and five
years working part-time for coach
June Jones and the SMU Mustangs
football team as an equipment
manager. Upon completing my
associate’s degree, my goal is
to continue academics at the
University of Louisville, where a
scholarship awaits me as a student
equipment manager for the
Cardinal’s football team.
I am an 18-year-old student,
currently completing my freshman
year of college at the University of
the Incarnate Word in San Antonio.
I graduated from Edinburg North
High School last year with honors.
During high school, I was involved
in many activities including dancing,
swimming, National Honor Society,
church groups and more. In
college, I have been selected to
be a part of the honors program.
I have volunteered for projects with
Habitat for Humanity and the
Austin Marathon. I have an older
sister who suffers from MPS IIIA,
who has inspired me to work
toward a degree in physical therapy.
I’m from Georgia, and a southern
woman who cherishes the
relationship I have with God. My
passion is agriculture and the
Future Farmers of America. I also
hold a passion for helping others.
After graduation I plan to attend
Abraham Baldwin Agricultural
College to pursue a degree in
agriculture education. After
receiving my bachelor’s degree I
plan to visit Africa on a mission trip
to teach the people the way of the
land and the gospel. Throughout
my time being an MPS sibling, I
have really found myself through
the service of others, and loved
every second of helping Chloe.
Taylor Ashley Harvey
Jennifer Klein
sister of Tad (MPS II)
ML III
I am a 20-year-old sophomore at
Oklahoma Wesleyan University
where I am studying pre-medicine.
I enjoy family time, fishing,
traveling, cooking, thunderstorms,
OU football and biology. My goal is
to excel in the medical field, start
a family, and travel the world while
continuing Tad’s legacy until we
meet again.
My name is Jennifer Klein and I am
a 22-year-old senior attending NC
State University in Raleigh, NC. I
currently am working on a double
major in human biology and
psychology, and plan to continue
my education with graduate studies.
I was diagnosed with ML III in
1999. This rare disease does not
have a treatment or a cure and
comes with many challenges. Still, I
am fortunate for the ability to move
forward in a positive direction with
university studies. I enjoy raising
awareness and funds for lysosomal
diseases, and hope one day we will
see a treatment and perhaps I will
be part of the process.
Hannah Gosey
MPS I
I love working with animals and
doing volunteer work. When I grow
up I want to have a job working
with animals. In my free time I
enjoy reading books, listening
to music and watching videos
on YouTube.
Sarah Gniazdowski
sister of Danny, MPS II After graduating from Springboro
High School in 2013, I now attend
Miami University of Ohio where I
am majoring in special education.
I am pursuing a career in special
education as an intervention
specialist. I plan to obtain an MBA
with a focus on social responsibility
and non-profit organizations, and
hope to one day work for a nonprofit organization that supports
families with children with lifethreatening diseases. My brother,
Danny, passed away in 2005 and he
is my inspiration for devoting my
life to making a difference in the
lives of special needs children.
Jessica Hess
MPS I
I am 18 years old and was diagnosed
with MPS I at birth. I am a happy
girl who is graduating from high
school and looking toward my
future. I want to make a difference
in the world by helping animals
through veterinary assistance.
I have been involved with acting
through my youth and hope to do
community theatre.
Chelsey Klenke
sister of Kraig (MPS II)
I am a senior at Missouri Baptist
University, where I am a member
of Student Activities and will be
homecoming chair in the fall. I also
continued >>
>>
am a member of Student Council
for Exceptional Children. I plan
to get a job after graduating to
gain experience and go on to get a
master’s degree in social work.
sister of Christian (MPS II)
My name is Ashley Lon and I am
19 years old. I am one of five
children to Maureen and Tony
Lon. My younger brother, Christian,
has MPS II, and has been the
biggest, most beautiful influence in
my 19 years of living. I currently am
a second year student at Montgomery
College and plan to transfer to the
University of Maryland at College
Park in the fall. I have a passion for
music, dancing and working with
children, which has led to my
ultimate aspiration of becoming an
occupational therapist and working
with disabled children.
Charlena Melnyk
sister of Nick, MPS II
I am from a wonderful, loving
family of five. I was born in
Canada, however, the majority of
my childhood took place in The
Woodlands, a little suburb just
north of Houston. It is here where
I learned my love for dance, school
and life in general. After becoming
valedictorian of Woodlands High
School, I moved to College Station,
TX, where I attend Texas A&M
University. I am enrolled in the
Biomedical Sciences Program and
will be graduating May 2015 (one
year early). I plan on furthering
my education by entering medical
school. I would like to further
my studies either in the field of
genetics, immunology/virology
or research. Most of my time is
dedicated to studying, however
when I do have free time I enjoying
dancing, cooking, volunteering
to help youth bowlers learn how
Heather Millington
sister of Hope (MPS VI)
I currently am attending
Huntington University in Indiana,
pursuing a bachelor’s degree in
psychology and sociology. Even
though Hope was my younger
sister, she taught me so many things
about what’s really important in the
world. I learned the value of love,
and I dream of being able to love
many children through a career
in counseling. My ultimate dream
is to own a residential counseling
facility for kids and teens who have
experienced trauma. I would also
like to work with victims rescued
from human trafficking and sex
slavery. I currently run a small
charity, Pennies for Pals, that
donates new stuffed animals to
under-privileged children around
the world. I also work with a small
group of 11th and 12th grade girls
at my church.
Joseph Morris
MPS II
My name is Joe Morris and I am
20 years old. I live in Kansas and
attend Pittsburg State University. I
am majoring in nursing and hope
to become a nurse practitioner
some day. I like to keep active
and also like to spend time in
the great outdoors. My hobbies
include fishing, doing Crossfit and
waterskiing.
Autumn Mortensen
MPS VI
I am a 20-year-old college student.
I have not let MPS stop me from
reaching my goals. I grew up
learning to adapt how I do things
to keep up with my peers and
enjoy life. I love learning and
watching movies with my friends.
I briefly played the cello in grade
school and had a blast in our small
orchestra. In high school I had a
major surgery which impacted my
life in a large way. I am lucky to
have the family and friends I do
to support me in all aspects of my
life. They give me strength to be
who I am, love myself and reach
for my goals. In my future career, I
hope I can help people as much as
everyone has helped me.
Mattison Reed
sister of Evan (MPS II)
I am a 2013 graduate of Mountain
Grove High School in Missouri.
I now attend Missouri Southern
State University where I am
majoring in pre-pharmacy. I plan
to attend pharmacy school to attain
my ultimate goal of becoming a
pharmacist. I am active in volunteer
service and extracurricular activities,
such as the Baptist Student Union.
I also serve as secretary of the
Caduceus (pre-professional) Club.
Ashley Restemayer
sister of Allison (MPS I)
I am a 2013 graduate of Bismarck
High School, and will be attending
my sophomore year of college at
the University of North Dakota,
majoring in musical theatre.
continued >>
07
scholarship recipients
Ashley Lon
to improve their game, spending
time with my amazing roommate
(who is also my brother), hosting
board game nights with my
brother’s friends every two weeks,
tutoring fellow students in organic
chemistry, and getting involved
with my church. It is my belief that
all life is a precious gift, one not to
be taken for granted, but instead, a
gift to be cherished every moment
of every day.
>>
scholarship recipients
08
Shannon Toll
Rebecca Von Handorf
sister of Bryar (MPS I)
sister of Alyson (MPS IIIA)
Eighteen years ago I was born into
an amazing family that included
two older brothers, one being
diagnosed with MPS I. Bryar helped
transform me into the person I am
today. I was born and raised in the
Hill City area, graduating from Hill
City Junior Senior High School in
2013. I now attend Fort Hays State
University studying occupational
therapy.
I am a sophomore at Northern
Kentucky University majoring in
biology. I plan to graduate with
a bachelor’s degree and attend
medical school. My sister, Aly, has
been an inspiration to me and the
driving force behind my career
aspirations.
Kyle Underwood
MPS II
I’m a 17-year-old senior at
University City High School in San
Diego, CA. I was diagnosed with
Hunter syndrome at the age of 4.
Throughout my life I have endured
hearing loss, countless surgeries
and weekly infusions. I share the
disease with my brother who is four
years younger than me. In spite of
this, I have maintained academic
excellence and maintained a spot
on the honor roll at my school.
Though I have encountered
many struggles, I feel they have
helped me grow as a person and
encouraged me to pursue a career
in medicine. I have a desire to
major in biochemistry in college,
and will be doing so in the fall.
Victoria Wehrle
sister of Peter (MPS II)
I currently attend Whitworth
University where I am working
toward a degree in health sciences.
After Whitworth, I plan to get a
master’s degree in occupational
therapy. My brother, Peter, passed
away in 2009 from complications
with MPS II. I miss him very much
and can’t wait to see him again
some day.
Leonel Yoque
MPS I
I am 17 years old and was
diagnosed with MPS when I was 8.
Knowing that I have a condition to
face my whole life that sets many
limitations, I have turned those
limitations into positive aspects in
finding my path, to complete tasks
without focusing on the things I
cannot do. Every morning I wake
up and tell myself that any conflict
I deal with during the day, it will
be a view of what life is about. My
mind is always set to a positive
mentality, even though there would
be difficulties or bad moments. My
future career is to become a law
enforcement officer, or something
in the law enforcement field. I
have been with the USC Cadet
Program for three years. This
program teaches teens about law
enforcement and the duties police
officers perform in the field. One
mental phrase we use when an
obstacle gets in our path is “Avoid
it and keep on going, never let your
team down.” My team is my family.
I will never let my team down and
I will strive in life with any dream I
have. I will never let an obstacle get
in my life’s path.
upcoming events
National MPS Society 2014 Family, SPIRIT and CYCLE Conferences
The 28th Annual National MPS Society Family Conference and celebration of the 40th anniversary of the National
MPS Society will be held Dec. 18–20, 2014. The SPIRIT and CYCLE conferences will be held Saturday morning, Dec. 20.
At your request, we will be returning to Disney’s Contemporary Resort where you can walk to the Magic Kingdom,
or catch the monorail as it breezes through the iconic A-frame Contemporary Tower. A wide range of topics and
speakers are planned for Friday, Dec. 18, ending with the gala banquet. The remainder of the weekend will be free
for families to enjoy the Walt Disney World theme parks, including the evening fireworks. Registration information
is on our webite under “Support.”
Family Weekend at Camp Korey
Oct. 24–26, 2014, Metabolic Disorders
The family weekend at Camp Korey includes fun for the whole family, including campfires, fishing,
arts and crafts, theater, a climbing wall, and more. It offers a chance for parents and caregivers to
connect with one another and build a network of support, and is an opportunity to make friends.
Family weekends are a chance for children (children living with an illness, as well as their siblings)
to meet peers who are experiencing similar life experiences.
All family weekend programs are free of charge for any family with a child between the ages of 5 and 16 who is
living with the condition specified for that weekend. All family members who live in your household are welcome to
join for a weekend filled with lots of fun!
Families will be housed together in camper lodges with each family having their own private sleeping quarters and
bathrooms. A physician and several nurses will be on site throughout the weekend. While parents/caregivers will
be responsible for day-to-day medical care of their children, Camp Korey’s skilled medical team will be present and
on-call for any medical needs and emergencies throughout the weekend.
To apply, go to campkorey.org, click on the Family Weekend tab and complete the family application, which
includes the “Family Weekend Application,” the “Family Medical Information” page for each family member who
is coming (this does not need to be signed by a physician), and the “Camper Medical Form” for the child with the
condition being served. This form must be completed by a doctor or health care provider. If the child has attended
a family weekend or summer camp at Camp Korey in the last six months, a new camper medical form is not needed.
The application may be submitted online, or printed and returned to:
Camp Korey, Camper Admissions, 28901 NE Carnation Farm Road, Carnation, WA 98014
For more information visit campkorey.org, call 425.844.3226 or send an e-mail to [email protected].
4th International Conference on the Glycoproteinoses
July 23–26, 2015, Hilton at the Ballpark, St. Louis, MO
This conference will bring together leading investigators from around the world to discuss the latest advances in
understanding the pathophysiology of these rare disorders and the status of the development of new therapies. One
of the goals is to increase awareness of these underserved forms of lysosomal diseases among new investigators, postdoctorate fellows and graduate students. The conference is designed to foster interactions between the investigators
and patients/affected families. For more information, visit www.ismrd.org.
09
N AT I O N A L M P S S O C I E T Y ’ S S A L U T E T O O U R
10
third decade (1995–2004)
2014 marks the 40th anniversary of the National MPS Society. This year Courage will
highlight one decade of accomplishments by leaders, researchers and of course our
many MPS heroes in each issue. We hope you enjoy reading about some of these
important moments in our rich history and recognize the extraordinary efforts of those
who came before us.
1995
1996
1997
1998
1999
• 780 members
and mailing list
of 1,200
• National MPS Society
website launched
•N
ational Institutes
of Health funded
$5.9 million in
research for MPS/
ML diseases
•1
st clinical trial of
gene therapy on a
human conducted
on adults with milder
MPS II
• BioMarin/Genzyme,
LLC provided first
operational grant to
Society allowing hiring
of first employee
•M
PS I phase
I/II enzyme
replacement
therapy (ERT)
clinical trial began
•C
reation of the
Society’s Committee
on Federal
Legislation
•B
ylaws of Society
amended and restated
for the first time
•S
teve and Amy
Holland elected to
board of directors
•T
hird Disney family
conference
• Adults with
MPS/ML added
as a membership
category
• $30 membership
fee
• Calendar and
note cards
created for
fundraising
• MPS Day held in
Chapel Hill, NC, with
UNC hospital
• Operating Budget
renamed to Family
Program Services
•B
oard votes for
one annual family
conference platform • Movie, Simon Birch,
released starring Ian
Michael Smith who
has MPS IV
•$
40 family membership
•L
inda Shine elected
president
•W
ebsite moved to
www.mpssociety.org
2000
2001
• Co-hosted a family
and scientific
conference at UCLA
• MPS II phase I/
II ERT clinical trial
began
• 2nd year of 5K walk/
run program raises
$170,000 for research
with 11 events
• Awarded $100,000 in
grants for research
• MPS Society
developed new
animation logo
for website and
publications
2002
•P
articipated in
the formation
of Global
Organization
for Lysosomal
Diseases
•A
nnual Fund
program
established,
raising $12,600
•1
7 walk/runs
raised $285,000
• Awarded
$190,000 in
research grants
•P
art-time office
assistant hired –
Laurie Turner
2003
•2
2 5K walk/runs
raised $337,500
• Aldurazyme®, the
first ERT for MPS
I, approved by FDA;
Society members
testified before
FDA as part of the
approval process
•M
PS II phase III ERT
clinical trial began
•M
PS VI phase III ERT
clinical trial began
•S
teve Holland elected
president of National
MPS Society
• Reported $2.3 million
net assets
•F
irst Society video
produced
•A
nnual Fund raised
$59,650
•A
warded $360,000 in
research grants
•F
irst lifetime
achievement award
presented to Dr. Emil
Kakkis
•N
ational MPS
Awareness Day
established as
February 25th
•B
ereavement and
regional family
picnic programs
implemented
2004
•3
0th Anniversary of
the National MPS
Society
•$
1 million budget
• Fourth Disney family
conference
•$
410,000 awarded in
research grants
•N
IH funded $9.3
million in MPS/ML
research
•H
ired development
director
•M
embership of 800,
mailing list of 3,500
• $50 membership fee
• Society leases first paid
office space in Bangor,
ME
11
salute to our third decade
• MPS VI phase I/
II ERT clinical trial
began
• Co-hosted
international MPS
and related disease
conference in
Minnesota
• National MPS Society
5K walk/run program
launches with seven
events, raising
$100,000 for research
• The Society completed
its first strategic
planning process
• CBS Evening News with
Dan Rather features the
Holland family
• Barbara Wedehase
becomes executive
director
• MPS booklets updated
• Les Shaeffer invited by
Sen. Spector to write
a paragraph on MPS
diseases that will be
included in the FY2002
Senate Appropriations
Bill
12
standing ovation
The Standing Ovation Award is intended to honor amazing people in our MPS family for
their resilience, courage, tenacity and passion for life while facing the many challenges of
having MPS.
We give a standing ovation to: Josie Williams, MPS I
Josie is 20 months old, and is adored by her family, especially her big
brother Mason. Josie’s favorite activity is playing with Mason, and the
best part is the feelings are mutual! Josie loves reading books, singing
songs, listening to music and dancing, going for walks, swimming and
getting her hands on anything in her brother’s possession. People have
commented that Josie is an “old soul.” Her peaceful demeanor implies Josie
understands her purpose and is at ease with her path in life. Josie takes
everything in stride and finds joy in even her most challenging days. She
picks us up and reminds us that happiness is right here, right now.
Sean Merrell, MPS I
My name is Sean Merrell. I am 22 years old and I was diagnosed with
MPS I when I was 8 years old. I am the oldest of three kids and my younger
brother, Cody, also has MPS. He is now 20. I have a sister, Amber, who is 17,
and she is unaffected. Although MPS has presented challenges, it doesn’t
define or describe who I am or who I’ve become. Each year I learn more
about who I am, what challenges other MPS patients live with, and try to
figure out how I can help to fight it for myself and for them. I try to live
my life every day by giving to others. Since I graduated from high school in
2011, I’ve continued to stay as active as I can and continue to try different
avenues if the path I choose doesn’t work out like I planned. I’ve taken
some college classes, and I volunteered in my church’s office helping with
paperwork and data entry. I began helping a local disability office and
they hired me as a part-time worker. I also have volunteered for our local
Habitat for Humanity Restore, which provides donated items from the
community sold at a discounted rate. All the profits then go back into the
Habitat organization. I also help my family with household chores and take
care of our two dogs, Monty and Bella. I stay very busy and try to remember
that I have the ability to do whatever my body will allow me to. Sometimes
that’s a challenge, but I never let it stop me.
Elijah Rabacchi, MPS II
Paul Hollenback Jr., MPS II
I have many proudest accomplishments like driving, graduating high school,
going to college, working out at the gym five days a week; but I have to say
my proudest one would be when I almost died last year due to my airway
issues. During an emergency surgery for my appendix, I ended up in an
induced coma for 2 ½ weeks, having an emergency tracheostomy, three
surgeries for that in two weeks, being in the hospital for a month, losing 20
pounds while being in the hospital, losing my ability to talk, and having to
learn how to eat, walk, drive, write and do everything you normally do in
life. I did physical therapy for a month and returned to the gym to get my
strength back. It helps against my disease and keeps me in shape and active
to do things I love to do in life. My close family and friends helped me
through this tough time. I am very grateful to them.
I want to be a motivational/inspirational speaker and writer to help/inspire
as many people as I can. I also want to write books. I’m currently writing
an inspirational book about everything I have been through. I write a lot
of motivational/inspirational blogs, whether its on social media or through
text messages that I send to my friends to motivate them. It’s a big part of
me and what I’m known for.
Brea Gates, MPS III
Brea is a super snuggly little girl who was diagnosed with MPS IIIA in 2013,
when she was just 3 years old. She loves to jump on the trampoline, and asks
to go “jumping” several times a day. Brea also loves being outside with her
sister and the neighborhood friends. They do all sorts of things from playing
on the play set, to playing with babies, to painting nails, and most things little
girls like to do. Brea also loves the iPad. She has several favorite shows—Dora,
Caillou, Max and Ruby, Bubble Guppies, Franklin, Peppa Pig, Little Bill,
and she LOVES Barney. She also has started to like a couple shows her older
sister watches, like Austin and Ally, and Jessie. Another one of Brea’s favorite
activities is going to the lake and boating.
Brea loves to snuggle and sometimes she can’t seem to get close enough to
you. She loves it when you kiss her forehead and she will actually put it up to
your mouth for a kiss! There is no shortage of hugs with Brea, which is why
we’ve nicknamed her our little snugglebug. Brea’s smile will melt your heart
continued >>
13
standing ovation
I am 21 years old and I have many favorite things that I like to do. I enjoy
traveling with my family, going to the movies, going to country concerts,
going to church, and hanging out with my friends. My passion for life
is helping/inspiring others to do anything they set their mind to. I hate
seeing people discouraged about things in life or feeling down. I have
a reputation for helping/inspiring others by what I have been through
and what I go through with my disease and situations that life brings me.
God is a big part of me. Without Him I couldn’t imagine getting through
everything and handling it. I have been through a lot in my life. More than
most people ever go through, and my passion is to look back one day and
say I made it. I don’t want to be one of those people who get discouraged/
depressed by their disabilities and disease that it stops them from doing
things. I believe no matter who you are you can do anything and get
through anything.
>>
standing ovation
14
and her laugh is so contagious. She absolutely loves bedtime. When it’s time
to put jammies on she gets the biggest smile and giggle of excitement. We
can bank on her reaction every single night. She sleeps with mommy and
daddy and if we’re both home at bedtime, she will not go to sleep unless both
of us put her to bed and wait until she’s asleep.
There are so many wonderful qualities Brea has, and so much joy she has
brought to all of our lives. She has four older siblings who adore her and love
her more than anything. In the short amount of time she has been on this
earth, she has made an impact in everyone’s lives she meets.
Jonathan Vanderpool, MPS III
I’m Jon Vanderpool, I’m 27 years old, and I live in Rochester, NY, with my
mom Debbie, papa Rich, and brother Jason. I love all kinds of music and
when I’m really happy I like to sing with my own words. My favorite things
to do are watching videos and TV shows with music and dancing, riding in
the car, and going for walks outside. We have two cats. I got to name one
Kee Kee. That was my word for Mickey Mouse when I was younger. I still
sing “kee kee” and clap when I’m very happy. Mom and papa say that I have
the best smiles!
At times, I’m a bit of a flirt and may compete with Jason for the hand of a
fair maid on my arm. What can I say…all girls love “The Hug.” I like to sing
in church with the congregation, but at times I forget to stop (especially
when the pastor is talking). I’m not the stair master I used to be, but with a
little help for focus, I can traverse most stairs.
I graduated in 2008 and now I go to a day hab site every day, where I enjoy
spending time with my friends. We go out into the community and I have
goals that I work on each day. Jason and I completed our three visits to
Minnesota for the natural history study for Sanfilippo in March. We like to
travel but the visits were very tiring. I love all things Disney and can’t wait to
meet everyone at the conference in December.
Saniyah Pumphrey, MPS IV
Saniyah Lanae Pumphrey was born May 31, 2011. From the first time she
could speak, she began saying the word “holla.” From that point on we
knew she was going let her voice be heard everywhere she went. Around
the family Saniyah is the life of the room. She will keep you smiling and
laughing with what she does, but mostly with the charisma that she speaks
with. She has an old soul, sometimes recalling things you said or did
that you may have forgotten about. Saniyah attends daycare where she is
considered the caregiver to children younger than her. She learns many
different songs and dances from the Disney Channel. Saniyah loves her
older brother, Kaleb, very much. He has helped her build up courage
which keeps their relationship strong and united. She has been through
a lot in the last 12 months and through it all Saniyah still smiles and says,
“I love you.” As proud parents those words mean everything to us.
Holden Guilfoyle, MPS VI
Phuong Vuong, MPS VI
Lonnie Tice, ML
I’m Lonnie Tice and I have ML III. I have an 18-year-old brother and
a 17-year-old sister. When I was younger I enjoyed bowling and playing
baseball. After high school, I was able to work in the restaurant business
until physical limitations made it to impossible to work any longer. I now
enjoy playing video games, gardening and helping animals. I have five
birds—a parakeet, a finch and three cockatiels. Something that has given
me strength for life was being able to go through and survive an aortic valve
replacement. Now I know I can do anything I put my mind to.
15
standing ovation
Hi! I am Holden Guilfoyle. I am 10 years old and I have MPS VI. I was
diagnosed when I was 2 years old and have been receiving enzyme
replacement therapy for almost eight years. I am a huge KC Royals fan—I
love baseball! I collect baseball cards and have several autographed
baseballs from some of my favorite players. I have an older sister, Addisyn,
and a younger brother, Gabriel. I am gearing up to start fourth grade. My
favorite things to do are play or watch baseball, play video games, read,
sing, swim and make people laugh. Every year my family and friends host a
5k in my honor and we raise money for the MPS Society. Last year we had a
Hero Run and it was awesome! I like to meet other kids like me. I wish I was
a fast runner like some of my friends, but I still play baseball, flag football
and basketball. I have a Facebook page (Holden’s Hope) so my family and
friends can check in on me.
One of the goals of the National MPS Society is to increase awareness of MPS diseases.
With the assistance and persistence of our members, we are making great strides. Don’t
forget to let the MPS Society know when you are featured in a media story!
16
making headlines
Chelsea Klenke, whose brother Kraig had MPS II, recently was featured in the Summer 2014 issue of Missouri
Baptist University magazine. Chelsea is working toward a bachelor’s degree in human services. To read the
complete article, go to www.mobap.edu/about-mbu/publications/mbu-magazine/mbu-magazine-summer-2014.
MyJobChart.com Hits the Road to Promote Charities,
Work and Volunteering
CEO, wife and six kids to travel 6,400 miles in RV completing chores for others
MyJobChart.com founder and CEO Gregg Murset, along with his wife and six kids, visited 23 cities in 20 days
completing chores for families in need or volunteering for organizations.
The Murset family, inspired by Tosh Trejo (MPS II), contacted the National MPS Society to see if they could help
families affected by MPS and related diseases. They visited the homes of several Society members: Jack Todd (MPS II)
and family, Mikey Lewandowski (MPS II) and family, Jennifer Klein (ML III) and family, and Wyatt Blancheri (MPS I) and
family. They helped these families doing everyday chores around their homes, tasks that tend to take a back burner
due to the aspects of living life with a rare disease.
As a result of the media outreach, the National MPS Society was featured in more than 100 news stories.
Todd family
Lewandowski family
Klein family
Blancheri family
Family of local boy with rare disease gets
a helping hand
Albuquerque Journal
www.abqjournal.com/422349/news/family-of-local-boy-with-rare-diseasegets-a-helping-hand.html
“The struggle is making sure the other kids don’t feel like it’s all about
the kid who’s sick,” said his mother, Lisa Todd, 39, a certified public
accountant.
So today will be special for the Todd family. They will get their house near
Academy and Eubank cleaned and chores done by a family they never
met—a mom and dad and their six kids—who will be spending 20 days
hitting 20 cities to do random acts of clean-up kindness.
Arizona family on trip to help others
Albuquerque Journal
www.abqjournal.com/423306/news/ari-zfamily-on-trip-to-help-others.html
When Lisa and Jerry Todd opened their front door shortly after 8 Monday
morning, in rushed the Murset family, an RV-load of six kids and their
parents from outside Phoenix who had never met the Todds.
Within 10 minutes, the Murset girls were climbing ladders to wash the
Todds’ windows, indoors and out, and the boys were crouching down with
water and rolls of paper towels to wash the Todds’ cars.
The Mursets (parents Kami and Gregg, plus four sons and two daughters
ages 7 to 16) plan to stop in at the homes of 20 families in 20 days, fulfilling
their goal of helping people across the country while seeing sights like the
Empire State Building and the Statue of Liberty their kids have never visited.
The trip was planned so the kids could practice the “Do Some Helpful
Chores and Stuff And Get Some Rewards For It” theme of an app called
myjobchart, which family patriarch Gregg Murset created. It allows kids to
track their chores and earn points toward money that they can donate to
charity.
KOB-TV Channel 4, New Mexico
www.kob.com/article/stories/
S3490187.shtml?cat=500#.
U7IBmLDnbZ4
Family’s chorefilled vacation
helps others
KRQE News 13, Albuquerque, NM
http://krqe.com/2014/06/30/
familys-chore-filled-vacation-helpsothers
Goodwill road trip
teaches Queen
Creek family
lessons
The Arizona Republic
www.azcentral.com/story/news/
local/chandler/2014/09/03/longgoodwill-road-trip-teaches-se-valleyfamily-lessons/15045025/
Family’s summer
travel teaches hard
work, service
Associated Press
http://news.yahoo.com/
familys-summer-travel-teacheshard-124742099.html
Arizona visitors lend
Lockport family with
ill child a helping
hand
The Buffalo News
www.buffalonews.com/city-region/
lockport/arizona-visitors-lendlockport-family-with-ill-child-ahelping-hand-20140709
17
making headlines
Every week, 11-year-old Jack Todd gets really tired during a four-hour
infusion that provides him with an enzyme that his body doesn’t make.
Meanwhile, his parents, who have two other children, ages 7 and 20, have
their hands full making sure their needs are met while Jack’s are, too.
Arizona family
travels to
Albuquerque to
help sick boy
18
fundraising news
National MPS Society 13th Annual Fund
Campaign—Inspire to Give
The Annual Fund:
– was launched in 2002
– is in its 13th year
– has raised more than $859,000
– supports operations and critical
program initiatives, such as:
1. family support, Continuing
Education scholarships,
medical equipment,
conference scholarships
2. legislative advocacy
3. member services
4. educational materials, website
and other special projects
The Annual Fund has become a critical funding source for the National
MPS Society. This campaign funds our family support programs, legislative
advocacy work and operations of the Society. Giving to the National MPS
Society’s 2014 Annual Fund Campaign is a partnership opportunity. Your
family is making a decision that the National MPS Society is working hard
each day to provide support for families.
It is easy to make a donation—send a check or go online to
www.mpssociety.org, click “Donate Now” and select Annual Fund.
Help us to help our programs grow and make a difference in the lives
of children suffering from MPS and related diseases.
This year’s Annual Fund chair is Lynn Hopkins. She shares her daughter
Michelle’s journey through a heroic bone marrow transplant and her
life challenges with MPS I. Lynn and her family speak passionately
about supporting the Society’s Annual Fund. You can view their story at
www.mpssociety.org.
The Hopkins family
Michelle Hopkins (MPS I)
Action for Aidan
The Action for Aidan 5K Run/Walk took place on Sunday, June 29, 2014,
in Exeter, NH, in honor of Aidan Carter (MPS II). The event featured local
musician Wayne from Maine, a bounce house, skateboard lessons, Home
Depot building station and delicious food. More than $96,000 was raised
through corporate sponsors and individuals donors. The support and love
of the community was overwhelming, with more than 300 participants.
The Carter family has altogether raised more than $200,000 for the
National MPS Society to fund MPS II research. For more information visit
www.actionforaidan.org.
Dawn Checrallah, Nick Boyce (MPS I) with
Aidan Carter (MPS II) and the Carter family
Planned Giving or Gift Planning
Planned giving or gift planning can be both an outlay of cash today to the
National MPS Society or a deferred gift that a person decides to give at some
future date, either a number of years from now or at death. A deferred gift is
a present decision to make a future gift, evidenced by a legal contract.
Perhaps considering gift planning doesn’t have to be proceeded by one of
the above circumstances and instead you can simply plan for your family
over time.
Gift Planning Is Similar to Planting a Garden
Gift planning can be similar to planting a garden. Many of us start our first
garden on a bare piece of land. Through the days and years that ensue, it
takes on an identity from the various plants we place there, how it is designed
and then cultivated to maturity. Some of us live long enough to have a
glorious garden stretching to a far horizon, some live only to plant a few rows
of flowers or cultivate a couple of trees.
As you plant your life’s garden through your deliberation and deeds, will
there be a section devoted to charity or philanthropy? Will it include gifts to
the National MPS Society?
Our hope is that your garden of life will include many wonderful thoughts
and experiences regarding your association with the National MPS Society.
You philanthropic garden might include a gift in trust, like a stand of fruit
trees that can yield a harvest every year. Or perhaps an area of rare varieties
that, once you have passed, can be transplanted to bring beauty and serenity
to all who will visit. Perhaps you’ll have an endowment section, where the
berries produced each year can feed the program of your choice.
There are many possibilities for filling your garden of philanthropy. We hope
that you will consider the Society in your landscape.
A planned gift ensures membership to the Rising Sun
Legacy Circle. See page 20 for more information.
Fundraising Committee:
Jeff Bardsley
Erica Blight
Stephanie Bozarth
Brooke Carter
Anne Gniazdowski
Tom Gniazdowski
Steve Holland
Larry Kirch
Terri Klein
Amy Miller
Amber Mongan
Lisa Muller
MaryEllen Pendleton, chair
Lisa Todd
Laurie Turner
Barbara Wedehase
fundraising news
In a recent publication, Planned Giving Today (Vol 25; No 6), the top 10
factors for adding charitable plans include:
1. approaching death
2. becoming a widow/widower
3. diagnosed with cancer
4. decline in self-reported health
5. divorce
6. diagnosed with heart problems
7. diagnosed with a stroke
8. first grandchild
9. increasing assets
10. increasing charitable giving
19
W AY S T O G I V E
AND INSPIRE
HOPE IN 2014
fundraising news
20
• Gifts in honor or in memory
of a special person.
• Matching gifts through your
employer (check with your
human resource office).
1. Request a matching gift form
from your employer.
2. Complete the employee section
of the form.
3. Mail to the Society and we will
process the gift!
• Courage Pages—Share your
family story with your own web
page to raise awareness and
funds.
• Contribute through the
Combined Federal Campaign if
you are employed by the federal
government—CFC #10943.
Rising Sun Legacy Circle Members
The Rising Sun Legacy Circle, formed in 2011, is a distinguished group
of donors who support the National MPS Society with an estate planned
gift designated to build a foundation for future research, family support
and educational programs. This is a group of forward-thinking individuals
whose generosity demonstrates concern for our future.
2011
Christa Armstrong, stocks and will
Becky Clarke, will
Emil Kakkis and Jenny Soriano, endowment gift
2012
Mary Starr Adams, will
Terri Klein and Mike Schleter, life insurance beneficiary
Tracy Szymanski, will
2013
Steve and Amy Holland, retirement plan
Brian and Kris Klenke, will
Barbara Wedehase, will
Anonymous, estate
Anonymous*, remainder trust received
• Designate the Society as a
member of your local United
Way. You will need to supply them
with the Society’s name, address
and Federal ID number (FEIN
#11-2734849).
2014
• Give to 2014 Annual Fund.
* denotes deceased
Carol Elwell*, remainder trust received
Steve and Randy McDonnell*, remainder trust pending
Austin and Stephanie Bozarth, in planning
Anonymous*, remainder trust received
• Major gift (usually 10 times that
of your Annual Fund gift).
• Planned gift (visit our website and
search Planned Giving).
1. wills or bequests
FUNDRAISING REMINDERS
3. charitable lead trust
• Don’t forget to submit a brief article for Courage about your fundraising
success stories and suggestions—they are terrific resources for other
families planning events.
4. life insurance policy or 401(k)
retirement funds
• Check out the fundraising section on the website for more information or
to post your event.
5. gift of appreciated assets
(stocks, mutual funds and
bonds)
• For free MPS Society brochures and donor envelopes, or to submit
information for the website or Courage, send an e-mail to Terri Klein at
[email protected].
• Gifts may be applied to the
Society’s general operating
purposes or restricted to one of
our research, family support or
legislative programs.
Keep in mind—the Annual 5K Walk/Run and the Annual Fund are great
ways to raise money for the National MPS Society.
2. charitable remainder trust or
charitable gift annuity
CONTACT: [email protected]
or 919.806.0101
New Sub-Committees Have Large Impact
on Society’s Efforts
by
Amber Mongan
•M
arketing Strategies & Technology sub-committee—focuses on newly
developed and current campaigns that exist to raise funds for the Society,
to understand their current use and implement new strategies to create
record-breaking donations (Ex. rally.org and Courage Pages).
•G
ift Planning (Planned Giving) sub-committee—focuses on bequests
(wills), living trusts and endowment strategies by implementing a monthto-month marketing plan, reviewing and identifying potential prospects
from our current database, and seeking new prospects from outside of the
Society.
•W
alk/Run Program & National Sponsors sub-committee—focuses on
all aspects of the walk/run program, including raising awareness, increasing
national corporate sponsorship, gaining traction through social media and
creating efforts to increase the amount of walk/run events this year. Money
raised through the walk/run program is the backbone of our research
initiative.
ALL fundraising efforts help fulfill the National MPS Society’s mission:
Support for Families. Research for a Cure.
Sub-committees meet monthly and report to MaryEllen Pendleton,
fundraising chair. Each month the Fundraising Committee as a whole reviews
critical paths. Contact Terri Klein at 919.806.0101 or [email protected]
if you are interested in being part of the newly restructured Fundraising
Committee.
Did You Know?
When you shop at smile.amazon.com, Amazon donates to your favorite charitable
organization. Designate the National MPS Society, and .5% of your eligible purchases will
automatically be donated to the Society. Visit smile.amazon.com for more information.
21
fundraising news
In April of this year, the National MPS Society’s Fundraising Committee
decided it would be more effective by splitting into three sub-committees.
This new committee structure helps allocate the “to do” list, keeps us
current and up-to-date with today’s rapidly changing social streams for
fund development, and allows for focused brainstorming, creativity and
the opportunity for additional members to join. We are excited about this
strategic move. The new sub-committees include:
22
family news
Ohio Regional Social Event
On July 12, 2014, more than 20 MPS families gathered together for an Out
of this World event to celebrate the children and encourage each other at
Northwest Chapel in Dublin, OH. Families experienced a Mexican feast of
authentic tacos and nachos, as well as many types of desserts and drinks.
Love and laughter floated around the room as families enjoyed a magic
show by Steven Knight, made crafts, and won giveaways from Mary Kay,
Starbucks, Amazon, Tommy Nelson, Club 31 Women and many other private
and business donors.
For the last 13 years, the Wojnarowski family has hosted this annual event to
join families traveling this special needs journey together.
Maura Mongan (MPS I) and family attended
Camp Prime Time in Washington in August.
Local MPS families hosted a great event by
providing an amazing weekend to gather and
participate in summer camp activities.
Purple Power!
Eleven families traveled from four different states to gather together again this year in Georgetown, KY, for the
Purple Power Party on Aug. 16. The kids had a great time with photo booth props, playing in the fire truck,
decorating awareness ribbon cookies and swimming. Adults enjoyed company and conversation with other adults
who truly “get it.” Thanks to all the families who worked so hard to make the event such a great day.
FA L L 2 0 1 4 # 6 8
legislative update
Legislative Committee:
Representatives from MPS Societies around the world came together to share updates on research,
clinical trials and host the International MPS Symposiums.
Stephanie Bozarth, chair, Committee on
Federal Legislation, at the International MPS
Symposium Brazil.
Steve Holland, president, board of directors,
providing formal testimony at FDA Inborn
Errors of Metabolism Public Workshop.
Stephanie Bozarth with Agadir Faria’s family.
Stephanie Bozarth represented the MPS Society
at the Energy & Commerce Hearing on Path to
21st Century Cures.
continued >>
Stephanie Bozarth, chair
Amy Barkley
Jeff Bardsley
Austin Bozarth
Dawn Checrallah
Lydia Edgal
Steve Holland
Terri Klein
Cara O’Neill
MaryEllen Pendleton
Steve Smith
Laurie Turner
Jerry Todd
Kim Whitecotton
Roy Zeighami
Barbara Wedehase
23
>>
legislative update
24
Gordon Wingate, board member, testifying at
the FDA Public Workshop Inborn Errors of
Metabolism in June as board members Austin Noll
and Roy Zeighami (far left) follow his remarks.
Rep. Jospeh Crowley (D-NY), co-chair of Rare
Disease Caucus, and Stephanie Bozarth, vice
president, National MPS Society.
MPS parents and patients at FDA Inborn Errors of Metabolism Public Workshop
CALL TO ACTION!
Current Legislative Priorities and Action Items:
• Ask Your Congressman to Join the Rare Disease Caucus
There are 435 members in the House of Representatives—only 76 of them
have joined the Rare Disease Congressional Caucus. A strong caucus will
enhance the rare disease community’s political power on Capitol Hill. Help
us reach our goal of 200 caucus members. The Rare Disease Congressional
Caucus will help bring public and Congressional awareness to the unique
needs of the rare disease community—patients, physicians, scientists and
industry, and create opportunities to address roadblocks in access to and
development of crucial treatments. The caucus will give a permanent voice
to the rare disease community on Capitol Hill. Working together, we can
find solutions that turn hope into treatments. You will be able to determine
if your congressman/woman is in the caucus and invite them to join at
www.rarediseaseadvocates.org. Additionally, you can read summaries of the
most recent caucus briefings.
• Social Media Advocacy Webinar
Do you spend at least a few minutes a day on Facebook or Twitter? If so, do you
utilize it as an advocacy tool to promote awareness of MPS and related diseases
and to promote policies that improve the lives of those affected by these
devastating diseases?
continued >>
>>
Whether you’re already using social media to advocate for MPS, or if you’ve
never thought of using it that way, please check out our one-hour webinar on
social media training on the Society website in the “Members Only” section.
You will learn specific strategies and tips for using Facebook and Twitter to
interact with the media and lawmakers, and to advocate for issues and policies
that impact you and others living with MPS.
• Support NIH: Ask your Senators to Support the Accelerating Biomedical
Research Act
Funding to the National Institutes of Health (NIH) has remained flat in recent
years, and uncertainty is growing over the ability of universities and other
research institutions to conduct the noncommercial medical research
underlying new preventative measures, diagnostic tools, treatments and cures.
In response to significant concerns about the erosion of NIH’s purchasing
power, Sen. Tom Harkin (D-IA) has introduced legislation, the Accelerating
Biomedical Research Act, that empowers Congress to provide up to 10 percent
increases in NIH funding for FY 2015 and FY 2016, and up to 5 percent
increases through 2021. These increases are more than justified by the
scientific opportunity unleashed when the human genome was sequenced.
And that’s just one of the developments that has set the stage for accelerated
medical progress. Go to http://capwiz.com/ram/issues/alert/?alertid=632860
56&queueid=10476395681 to advocate by e-mail or with a printed letter.
The Coming Human Body on a Chip That Will Change
How We Make Drugs
Fast Company, July 28, 2014
www.fastcoexist.com/3033574/the-coming-human-body-on-a-chip-that-will-change-how-we-make-drugs
Scientific researchers, the FDA and the military are working to develop technologies that could eliminate or drastically
reduce the use of animals in favor of more accurate and efficient alternatives.
“If our goal is to create better drugs, in a way that is much more efficient, time and cost-wise, I think it’s almost
inevitable that we will have to either minimize or do away with animal testing,” said Dan Tagle, PhD, associate director
of the NIH’s National Center for Advancing Translational Sciences. Dr. Tagle leads an NIH program that’s funding one
major effort to develop alternatives to animals in drug testing development, the organs-on-a-chip.
Drugs that seem promising often don’t have the same response in people, plus there are potentially life-saving drug
therapies that never make it to human clinical trials because they’re toxic to mice. The “organs-on-a-chip” are small,
flexible pieces of plastic, and when hollow micro-fluidic channels inside them are lined with human cells. They are
designed to recreate the flow and forces that cells experience within a human body.
In a personal communication from Dr. Tagle to Barbara Wedehase, Dr. Tagle noted, “The tissue chips we are
generating will be helpful in therapy developing in terms of safety and toxicity testing, as well as useful for efficacy
models for disease pathogenesis. However one of the biggest uses of these chips are actually for rare diseases.” Dr. Tagle
pointed out a recent publication in Nature Medicine, www.nature.com/nm/journal/v20/n6/full/nm.3592.html, where
this technology was used to “test out candidate drugs” in Barth syndrome, an x-linked disease, which results in dilated
cardiomyopathy, skeletal myopathy and neutropenia.
legislative update
The benefit of using social media for advocacy is that it doesn’t take long (a few
minutes a week can go a long way), and it’s not hard! Go to www.mpssociety.org,
log in and click on “Legislative Toolkit.”
25
A Blueprint for Helping Children
with Rare Diseases
legislative update
26
Jill Hartzler Warner, JD, FDA associate commissioner for
by
Special Medical Programs
The U.S. Congress and the Food and Drug Administration (FDA) have long
focused on bringing new therapies to patients with rare diseases, including
children.
Two years ago, Congress made another contribution to this effort by enacting
the FDA Safety and Innovation Act (FDASIA). The law directs our agency to
take two actions to further the development of new therapies for children
affected by rare diseases: (1) to hold a meeting with stakeholders and discuss
ways to encourage and accelerate the development of new therapies for
pediatric rare diseases, and (2) issue a report that includes a strategic plan for
achieving this goal.
There are unique challenges when developing drugs, biological products and
medical devices for the pediatric population. Not only is there the potential
for children to respond differently to products as they grow but there are also
additional ethical concerns for this patient population.
But these challenges are further compounded when developing therapies for
pediatric rare diseases. For example, rare disease product development, by
definition, means there is only a small potential group of patients available
to participate in clinical studies that can help determine whether a product is
safe and effective.
In our FDASIA meeting in January, we heard a variety of suggestions on
clinical trial design and data collection from hundreds of the participating
stakeholders from academia; clinical and treating communities; patient and
advocacy groups; industry and governmental agencies.
These discussions helped inform our Strategic Plan for Accelerating the
Development of Therapies for Pediatric Rare Diseases. It outlines how we
plan to meet the following four objectives:
• Enhance foundational and translational science. Our strategy is to fill
essential information gaps through such measures as fostering the conduct
of natural history studies for pediatric rare diseases and by identifying
unmet pediatric needs in medical device development. We also plan
to issue guidance for sponsors on common issues in rare disease drug
development and to refine and expand the use of computational modeling
for medical devices.
• Strengthen communication, collaboration and partnering. Robust
cooperation within FDA, among agencies, governments and private
entities is necessary to enable the exchange of information on the issues
of developing treatments for pediatric rare diseases. Single entities by
themselves usually don’t have sufficient resources or expertise to overcome
the product development challenges posed by pediatric rare diseases.
•A
dvance the use of regulatory science to aid clinical trial design and
performance. Regulatory science helps develop new tools, standards and
approaches to assess the safety, efficacy, quality, and performance of all
FDA-regulated products. Of note, we plan to facilitate better understanding
continued >>
>>
of biomarkers and clinical outcome assessments that are useful for the
development of treatments for pediatric rare diseases. We also plan to
further develop the expedited approval pathway for medical devices
intended to treat unmet medical needs; and use FDA’s web-based resources
to update and expand awareness of issues involving the development of
medical products for pediatric rare diseases.
The report notes our use of expedited programs to speed rare disease
medical product development. For example, the accelerated approval
program allows for approval of products to treat serious and life-threatening
diseases based on an effect on a surrogate marker, such as blood test,
urine marker, or an intermediate clinical endpoint, that is believed to be
reasonably likely to predict clinical benefit to the patient. Under accelerated
approval, further studies are required after approval to confirm that the drug
provides a clinical benefit to the patient.
More than 80 new products have been approved under the accelerated
approval program, and many of these have been for rare diseases. But it’s
important to note that in some cases FDA exercises regulatory flexibility to
approve drugs under the traditional approval pathway, rather than under the
accelerated approval program. In fact, most of the recent new drug approvals
for rare diseases have been approved under the traditional approval pathway
because FDA has determined that the drug provides a clinical benefit to the
patient. Such approvals make new drugs available to patients, and also mean
that companies are not required to do confirmatory trials after approval.
The FDA is committed to continuing its use of expedited programs and
regulatory flexibility to speed development and approval of safe and effective
drugs for all patients with rare diseases, and the strategies outlined in this
plan will help us achieve a major goal of FDASIA and for our agency, which is
to speed the development of therapies for children with rare diseases.
Head of FDA’s Rare Disease Division Departs,
Agency Looking for New Leader
The U.S. Food and Drug Administration (FDA) is looking for a new leader for its Rare Diseases Program. John Jenkins,
director of the Office of New Drugs (OND), which oversees the rare disease program, said the program’s current leader
would be transitioning to a new role at the FDA.
Anne Pariser, OND associate director for rare diseases, will take on a new position in the Office of Translational Sciences.
Pariser will still be working within the Center for Drug Evaluation and Research (CDER), OND’s parent division.
Jenkins noted that the FDA has already closed a solicitation for a new leader for the program, and is in the process
of “evaluating the candidates for the detail.” In the meantime, Larry Bauer, a regulatory scientist within OND, will be
managing the day-to-day operations of the rare diseases program.
On its website, the FDA describes the Rare Disease Program as being meant to “facilitate, support and accelerate the
development of drug and biologic products for the benefit of patients with rare disorders.” While it does not handle the
orphan drug designation process, it is nevertheless influential in setting regulatory policy for the review of those products.
legislative update
• Enhance FDA’s review process. Our strategies include fostering efforts
to learn patients’ and caregivers’ perspectives and incorporating this
information into medical product development. We also plan to further
develop and implement a structured approach to benefit-risk assessment in
the drug review process and establish a patient engagement panel as part of
the medical device advisory committee process.
27
21st Century Cures Overview
of July Roundtable
The Energy and Commerce Committee continue its efforts on 21st Century
Cures as members and participants discuss how the rise of personalized
medicine and advances in science and technology can shape the healthcare
system in the 21st century. Specifically, the round table is exploring how
genomic sequencing and diagnostic testing, as well as the regulation of these
continually evolving areas, affects innovative product development and
delivery.
legislative update
28
“Thanks to the incredible advances made over the past several decades, cures
and treatments today can be developed at the molecular level, giving patients
treatments tailored specifically to their genetic makeup,” commented
Chairman Fred Upton (R-MI) and Rep. Diana DeGette (D-CO). “21st Century
Cures is about spurring innovation to advance a system of personalized
medicine so that patients can get the right treatment at the right time for
their unique healthcare needs. We look forward to hearing more about the
opportunities on the horizon and what role Congress can play in moving
solutions forward.”
Join the 21st Century Cures effort
by liking the Cures Facebook
page, following along on Twitter,
and using #Path2Cures.
The MPS Society was invited to submit
comment on the Patient Perspective and
did so in May 2014. Those comments can
be read at http://energycommerce.house.
gov/cures.
To help advance the 21st Century Cures initiative, the Health Subcommittee
will continue its examination of the state of biomedical innovation by hearing
from experts on whether additional incentives are necessary to accelerate
the discovery, development and delivery cycle. During the inaugural May 6
roundtable, Margaret Anderson, executive director of FasterCures, said,
“There are 7,000 known diseases. We have treatments for only 500 of them.
We have work to do.”
The hearing will allow subcommittee members to better understand whether
additional incentives are necessary to accelerate treatment and cures for
patients, including those with the 6,500 diseases with no adequate treatment
or cure. Congressman Joe Pitts (R-PA) commented, “We need to better
understand what we can do to help spur the development of innovative new
drugs and devices for patients with unmet medical needs. The committee
remains encouraged by the enthusiasm and interest surrounding 21st
Century Cures and we look forward to discussing opportunities to close the
gaps between the discovery and regulation of new cures and treatments for
our nation’s patients.”
For decades, our nation’s commitment to the discovery, development
and delivery of new treatments and cures has made the United States.
the biomedical innovation capital of the world, bringing life-saving drugs
and devices to patients and well over a million high-paying jobs to local
communities. This success has not gone unnoticed in the rest of the world,
and other nations are now actively working to gain a competitive edge in
various elements, whether through a focus on basic research or a streamlined
approval process to bring new treatments to market more quickly. It is clear
that the discovery, development and delivery process is a cycle, meaning
that even data captured and analyzed at what some might consider the
“end” of the process—the delivery phase—actively infuses new discovery
and development of better treatments. The country that fully embraces
the entirety of this cycle will be the innovation leader for the 21st Century.
Thus, a key goal of the 21st Century Cures initiative is to help ensure it is the
United States that charts this course. Read more at http://energycommerce.
house.gov/cures.
Patient Advocacy: Focal Points for the Future
by
Steve Smith, MPS IVA parent
Patient advocates for rare and
serious disorders have often focused
on accelerating the clinical trials
process and, at times, the voices of
advocates have made a difference.
The benefits of advocacy may be
hard to see because improvements
have happened over a long period
of time, or because more recent
improvements to the clinical
trials process will take time to
fully mature. While such slogging
progress is frustrating, it helps to
recognize and understand the
nature of these improvements so
we know where to focus next.
Vocal advocates sometimes push
in opposite directions. In today’s
climate we may find rare disease
advocates in the congressional
office buildings asking members of
congress to speed up the clinical
trials process. Down the hall in
other congress members’ offices,
other advocates are complaining
that the FDA approves drugs too
quickly and risks safety. What’s a
member of congress to do?
Over decades, this tug of war
about speed and safety has created
change in both directions, and
helped define today’s clinical trials
regulations. Understanding these
forces helps advocates focus their
efforts, find common cause and
create alliances. While there appears
to be conflict between safety and
speed, we actually want both. Keep
us safe and give us more treatments
faster. If we hear a voice saying
that “faster” would not be “safe,”
we should recognize that view as
unacceptable. Safety and speed
can co-exist.
In 1962, it was thought drug
approvals happened too fast due
to the Thalidomide disaster. So the
1962 Kefauver Harris Amendment
was passed by Congress to make
trials safer via statistical rigor.
Then in 1983, it was felt that drug
approvals were too slow, in response
to the AIDS crisis, and the Orphan
Drug Act was passed. But orphan
disease research was still not
creating enough results, so in 2002
the Rare Disease Act was passed
to establish some structure and
priorities to move things along.
In 2012 the new FDA Safety and
Innovation Act (FDASIA) was a
welcome improvement. True, we
have not yet seen all the positive
impacts. Implementation of many
new laws takes time. Advocates
were right in pushing for this
legislation, and have continued to
be right in focusing on its correct
implementation.
FDASIA defines a new accelerated
pathway for development of drugs
for serious and life-threatening
disorders: in cases of a potential
“break-through therapy” the FDA
is mandated to interact more
frequently with the drug company
during the clinical trials process.
To do this, the FDA is challenged to
find and apply the right expertise, in
larger amounts, to this formidable
task. (The science is not simple.)
Pharmaceutical companies also
need to get data together in a way
that is clean and clear, and powerful
statistically speaking, on a more
frequent basis. Both sides need to
up their game in finding ways to
overcome the fact that rare disease
trial statistics will never have the
statistical power of bigger diseases.
Both FDA and drug developers will
take time to figure out how to better
use difficult concepts to evaluate
trials results. Surrogate biomarkers
and intermediate clinical endpoints
may be needed to show proof, but it
is difficult for the FDA and sponsors
to agree on what these measures
mean. This landscape is improving,
but slowly.
It would be easy to dismiss this
new law in casual conversation as
“not working” for us because we
have not seen the benefits. In fact,
some drugs have been approved
under this law. More companies are
seeking to use it to accelerate their
trials.
Recent statements by the FDA’s
Center for Drug Evaluation and
Research Director Janet Woodcock,
MD, are encouraging, noting that
many drug developers are utilizing
the new Breakthrough Therapy
Designation defined by the new law.
She said this aspect of FDASIA is
working better than first imagined.
Fourteen years ago, I had a
meeting with the FDA, along with
Steve Holland, then president of
the National MPS Society, and
Mark Dant, founder of the Ryan
Foundation, both MPS I dads. One
of our requests of the FDA was to
be more interactive with sponsors
during clinical trials. We’d seen
gaps in the communication during
trials, slowing things down. Lives
were at stake, and time was of the
essence. We’d seen the FDA declare
data (use of surrogate markers)
to be insufficient proof. They’d
stated this opinion long after the
continued >>
29
legislative update
Rare disease patient advocacy has
become more sophisticated over the
last 15 years since Aldurazyme® for
MPS I was heading into phase III
clinical trials. There are many more
well-organized advocacy efforts,
and different groups are better at
uniting around a common cause to
change public policy.
>>
legislative update
30
Steve Smith
drug developers had decided
to use such proof. Months were
wasted. Eventually a common
understanding between the FDA
and drug developers was reached,
sufficient proof was provided, and
the drug (Aldurazyme for MPS I)
was approved in 2003.
As a result of that visit to the FDA
in 2000, it seemed to us that some
communication improved on that
particular trial immediately. That
was on a micro level: one company,
one trial. But the public policy about
that issue improved on a national
scale with the passing of FDASIA in
2012. Now, FDASIA mandates such
frequent interaction during clinical
trials between the FDA and drug
developers. FDASIA was the result
of many years of advocacy, by many
individuals, advocacy groups and
other stakeholders.
Since we met with the FDA in
2000, we have witnessed a growing
sophistication of patient advocacy
for rare diseases focused on
Congress and the FDA. There are
more advocates, advocacy groups
and much better organization of
advocacy. Advocates still disagree
about how to get things done, and
have family like squabbles about
turf. But the ability of advocates
to work through their different
approaches to express common
cause in clear terms has improved.
This helps legislators know what
to do.
Now in our third decade of
lysosomal disease drug approvals,
we’ve had to wait while one lengthy
trial after another happens, almost
as if each disease has to line up
waiting its turn. What if we’d had
better consolidation of research and
faster approvals? Perhaps we weren’t
ready scientifically. Regulatory policy
was certainly not supportive of that.
Going forward, some encouraging
focal points for advocates should
have long-term benefits that may
be hard to see today. Examples
are consolidating themes. Master
protocols that combine into single
trials what used to be divided
into many separate trials (e.g.,
the NIH-sponsored LungMap
trial), increasing use of phase IV
surveillance rather than lengthy
phase III double-blind placebo
trials, other adaptive trial designs,
efforts to collect and reuse data
in a way that is not trial-specific
(“let no data go to waste”), and
proactive work by advocacy groups
to assemble patient data, or risk vs.
benefit guidance for the FDA as the
Parent Project Muscular Dystrophy
group has recently done.
Advocates should be dissatisfied
with the current state of rare
disease drug development. It is
unacceptably slow. But advocates
should be encouraged that there are
compelling focal points for advocacy
today, a stronger advocacy culture
and evidence that advocates’ voices
make a difference, even when it
takes a long time to see it.
research news
Shire and AbbVie Merge
On July 18, 2014, Shire and AbbVie announced the merger between the two companies; the transaction is expected to
be completed in the fourth quarter of 2014.
“By combining AbbVie and Shire, we’re creating a unique, diversified biopharmaceutical company,” said Richard A.
Gonzalez, chairman and chief executive officer of AbbVie. “The combined company would benefit from a best-in-class
product development platform, a stronger pipeline and more enhanced R&D capabilities.
“The combination of AbbVie and Shire is attractive for shareholders of both companies, bringing the potential for
strengthened sustainability of top-tier EPS growth, attractive free cash flow and enhanced cash returns to shareholders.
The combination would provide us with enhanced access to cash that we can use to expand our portfolio and fund
M&A to supplement organic growth.”
Susan Kilsby, chairman of Shire, said, “Shire has a long track record of delivering value for both shareholders and
patients. Our growth profile has been accelerated under our new management team who have successfully executed
a focused strategy. We believe that this offer reflects the substantial value that we have already created for Shire’s
shareholders and the strength of our future prospects. We believe that the combined group represents an exciting fit
of two complementary businesses that will create a new market leader in specialty pharmaceuticals with a portfolio of
fast growing products, a promising pipeline and enhanced growth prospects.”
In a personal communication to the National MPS Society, Thomas Croce, head of Shire Global Patient Advocacy
Communication & Public Affairs, noted, “The transaction will create a well-positioned and focused specialty
biopharmaceutical company, with sustainable leadership positions within areas of unmet need, including immunology,
rare diseases, neuroscience, metabolic diseases and liver disease and multiple emerging oncology programs. As a
valued partner, we are committed to communicating with you throughout this process, and will be as transparent as
possible over the coming weeks and months.”
ArmaGen and Shire Announce License Agreement
ArmaGen and Shire announced July 23, 2014, that they entered into a worldwide licensing and collaboration
agreement to develop AGT-182, an investigational enzyme replacement therapy for potential treatment of both the
central nervous system and somatic (body-related) manifestations of Hunter syndrome.
AGT-182, which has received orphan drug designation from both the U.S. Food and Drug Administration and the
European Medicines Agency, is designed to take advantage of the body’s natural system for transporting products
across the blood brain barrier (BBB) by using the same receptor that delivers insulin to the brain. AGT-182 is
engineered by the fusion of the replacement IDS enzyme to an antibody that binds to a receptor on the BBB. The IDS
enzyme is designed to cross the BBB attached to that antibody.
Under the terms of the agreement, Shire will obtain worldwide commercialization rights for AGT-182 in exchange
for payments of approximately $225 million to ArmaGen, including an initial upfront payment of $15 million in cash
and equity, an additional equity investment, R&D funding, development milestones and sales milestones, in addition
to royalty payments. As part of the agreement, ArmaGen will be responsible for conducting and completing the phase
I/II study which it expects to initiate before the end of 2014, after which point Shire will be responsible for further
clinical development, including phase III trials, and commercialization.
For additional information see page 32.
31
ArmaGen Technologies, Inc. Develops Technology to
Cross the Blood-Brain Barrier
research update
32
Over the past decade, biotechnology has delivered on the promise of developing potent new therapies to treat a
wide range of diseases, including childhood genetic disorders like MPS. However, these advances have not been fully
realized for disease processes that specifically affect the brain. This is because, to date, biopharmaceuticals have been
unable to penetrate the brain’s protective wall, called the blood-brain barrier (BBB). Founded in 2004 by Dr. William
Pardridge from UCLA, ArmaGen Technologies has developed the first technology that enables the re-engineering of
biotech drugs as BBB-penetrating agents. This is achieved through ArmaGen’s molecular “Trojan horse” technology.
The molecular Trojan horse is a genetically engineered monoclonal antibody that traverses the BBB via natural
transport systems present on the surface of the BBB. Through molecular biology techniques, ArmaGen can fuse the
Trojan horse to the biotech drug. The process creates a new fusion protein where half is the brain-active drug and half
is the Trojan horse. The Trojan horse domain of the fusion protein ferries the biotech drug across the BBB and into
the brain where it is now able to exert its effects more effectively. Without the Trojan horse domain, the biotech drug
cannot penetrate the BBB.
ArmaGen’s programs currently are in the preclinical stage; the company intends to advance two Trojan horse
constructs toward phase I human clinical development in 2014.
ArmaGen® Receives U.S. Orphan Drug Designation for
Lead Product AGT-182 for Treatment of MPS II
ArmaGen announced on July 18, 2013, that the U.S. Food and Drug Administration (FDA) has granted orphan drug
designation to its lead product AGT-182 for the treatment of MPS II.
AGT-182 is a human insulin receptor monoclonal antibody-fused iduronate 2-sulfate designed to cross the blood brain
barrier (BBB) through the insulin receptors present on the BBB. ArmaGen currently is preparing an Investigational
New Drug Application (IND) for AGT-182 in order to begin clinical investigation in the first half of 2014.
“We are very pleased to receive FDA orphan drug designation for AGT-182. This designation is an important strategic
milestone in the development of our program,” said James Callaway, PhD, chief executive officer of ArmaGen. “It
represents a transformational moment in the company’s evolution as we prepare for the IND and transition from a
research-stage to a clinical-stage organization.”
Orphan Drug Designation is granted by the FDA Office of Orphan Drug Products to drugs intended to treat a rare
disease or condition affecting fewer than 200,000 people in the United States. This designation confers special
incentives to the drug developer, including tax credits on the clinical development costs, prescription drug user fee
waivers and may entitle a period of seven-year market exclusivity in the United States upon FDA approval.
“Through the development of AGT-182, ArmaGen hopes to address the significant unmet medical need for patients
who suffer central nervous system impairment as a result of Hunter syndrome,” said ArmaGen founder and Chief
Scientific Officer, William Pardridge, MD. “In addition, the company will continue applying our BBB-penetrating
approach to other compounds internally as well as through external collaborations with pharmaceutical partners.”
National MPS Society
PO Box 14686
Durham, NC 27709-4686
t: 877.MPS.1001 • p: 919.806.0101
f: 919.806.2055
Dear MPS III families:
On behalf of the National MPS Society’s board of directors, I am writing to explain some board actions concerning
MPS III research funds.
2012 MPS III Grand Challenge Grant
In February of 2012, the National MPS Society announced the availability of a $235,000 Grand Challenge Grant for
the treatment of MPS III. The Society and its MPS III foundation partners, including Team Sanfilippo, combined
general research dollars with MPS III research dollars to create this unprecedented award amount. The purpose of
the grant was to take a large step forward in finding a treatment for MPS III. Following a recommendation by the
Society’s Scientific Advisory Board, the Grand Challenge Grant was awarded to Dr. Brian Bigger in June of 2012 for
his project, “Evaluation of high dose genistein aglycone in the treatment of mucopolysaccharide disease types IIIA,
B and C.”
The purpose of the project was to evaluate the efficacy of treating MPS III individuals with genistein using trial
participants in the UK. Being a treatment trial, a significant amount of additional funds had to be raised and UK
regulatory approval obtained before the trial could be started. In February of 2013, the Society’s board became
concerned about the delays in the start of the trial and whether the project was viable. A June 2013 deadline was
set to begin the project or the funds would be withdrawn. Following positive movement toward starting the trial,
the Society disbursed $117,500 to the project in June 2013 with the stipulation that the remaining funds would be
disbursed after one year of treating trial participants if they were showing positive results.
As of May 2014, the project is not fully funded and UK regulatory approval has not been obtained. Due to the over
two-year intervening period since the Grand Challenge Grant was first advertised, the board voted on May 3, 2014,
to withdraw the undisbursed $117,500 support from the genistein project and to advertise the availability of these
remaining funds to ensure they are spent on the best MPS III project at this time. The genistein project can be
resubmitted for consideration along with other newer projects that may now be available.
2014 MPS III Research Grants
In addition to the amount discussed above, Society members raised approximately $100,000 in 2013 to invest in
MPS III research. Instead of advertising the availability of those funds in the spring of 2014 along with the Society’s
regular research grant offering, the board is reviewing information from Abeona Therapeutics related to Dr. Haiyan
Fu’s MPS III gene therapy trial project at Nationwide Children’s Hospital. We anticipate making an announcement
about these funds this summer. In addition, the Society will be awarding one $60,000 general research grant in 2014
that may be used for any of the MPS or related diseases.
Conclusion
While it is wonderful that we now have treatments for so many of the MPS and related diseases, it is heartbreaking
that you are still waiting. Your board of directors is keenly aware of this fact and is committed to doing our part to
speed your path to treatment. I hope you interpret the actions described above as positive steps toward that goal.
If I can be of assistance to you in any way, please let me know.
Sincerely,
Steve Holland
MPS I dad
President, National MPS Society
This letter was sent to all MPS III members.
research news
May 23, 2014
33
2014 Research Grants
research news
34
The National MPS Society allocated $509,500 in grant funding for 2014 which includes the second year funding for
grants awarded in 2013, the unspent MPS III funds from 2012 and the 2014 grants. The funding the Society provides
has been and continues to be critical as we move forward with our mission to find the cures. We received 20 letters of
intent from researchers around the world for the general, MPS II, MPS IVA and MPS VI grants. After reviewing those
letters, our Scientific Advisory Board review committee requested full grant proposals from eight researchers.
The board of directors allocated $117,000 to Abeona Therapeutics, which has licensed the MPS IIIA and MPS IIIB
gene therapy technology from Nationwide Children’s Hospital. Funds already raised by Abeona have been funneled to
Nationwide for MPS III drug manufacturing and preclinical research plus two investigational new drug applications.
The financial distribution from the Society will help move the clinical trial forward.
The Society also provided $25,000 to support the Lysosomal Disease Network’s NIH grant research goals. This funding
is designated for the Neuroimaging Core, which will benefit the four MPS projects. An additional $8,000 was offered
for an ML grant in partnership with International Society for Mannosidosis and Related Diseases. A $10,000 MPS I
partnership grant with the Ryan Foundation funds the University of Minnesota project “Longitudinal Studies of Brain
Structure and Function in MPS Disorders.” The Society also provides funding for post-doctoral fellows to attend the
American Society and Gene and Cell Therapy conference.
General Grant – two years
@$30,000 each year
Moin Vera, MD, PhD
The MPS IVA grant, $45,000 for each of
two years, was not funded due to lack of
quality proposals. A second grant initiative
was announced July 24 with a request for
proposals for the MPS IVA grant and for
an MPS III grant, $50,000 for each of two
years. The MPS IVA and MPS III grants will be
funded in December 2014.
Los Angeles Biomedical Research
Institute at Harbor-UCLA
Medical Center
Torrance, CA
“The role of angiotensin II-mediated
inflammation in MPS I vascular
disease: a study of pathophysiologic
mechanism and evaluation of
angiotensin receptor blockade therapy”
Bones, joints and cardiovascular
tissues are among the most difficult
to treat with the standard therapies
available today for MPS I. Disease
affecting these tissues also causes
the most disability in our patients,
including poor quality of life and
risk of early death. Inflammation
is a mechanism that seems to
explain much of the bone and
joint disease in animal models
of mucopolysaccharidoses. In
this project, we are studying a
specific inflammatory pathway
in vascular disease, which also
occurs in MPS patients. This
alternative inflammatory pathway
is hypothesized to be stimulated
by angiotensin II, a molecule that
plays a role in atherosclerosis and
coronary artery disease. We plan to
test the importance of this pathway
by studying vascular smooth muscle
cells from MPS I mice and we plan
to test a treatment for this type of
inflammation using an angiotensin
receptor blocker in MPS I mice.
MPS II – two years @ $25,000
each year
R. Scott McIvor, PhD
University of Minnesota
Minneapolis, MN
“AAV mediated gene transfer to the CNS
for MPS II”
Currently there is no established
treatment for neurologic symptoms
of Hunter syndrome, caused
absence of the enzyme iduronate
sulfatase (IDS). We have established
conditions for effective gene transfer
to all areas of the brain using a
genetically engineered virus (AAV).
In this research project, we will test
these conditions for introduction of
the gene for IDS into the brain in
mice that are deficient in IDS, then
test for prevention of neurologic
continued >>
>>
disease. We anticipate that results
from these studies will facilitate the
development of genetic therapy for
neurologic symptoms of Hunter
syndrome.
Calogera Simonaro, PhD
Icahn School of Medicine at Mount
Sinai
New York, NY
“Pentosan Polysulfate and GAGs in
MPS”
We have previously shown that
glycosaminoglycan (GAG) storage in
MPS leads to inflammation, a major
contributor to the degenerative
cartilage disease in MPS patients.
patients with other conditions for
many years, and it addresses two key
pathologic features—GAG storage
and GAG-induced inflammation. The
first clinical trial of PPS in MPS will
begin this summer. However, despite
these advances, the mechanism(s)
leading to PPS-induced GAG
reduction in MPS remain unknown,
nor is it known if the findings in
MPS VI extend to other MPS types.
The current proposal is therefore
focused on addressing these
important questions.
2013 Research Grants—First Year Reviews
The reviews of the first year of research of these grants can be found on our website under the research section, 2013
grants, at www.mpssociety.org/research/2013-research-grants.
General Grant
MPS II
MPS IVA Grant
Lachlan Smith, PhD
University of Pennsylvania
Philadelphia, PA
“Pathogenesis of bone disease in
mucopolysaccharidosis disorders”
Vito Ferro, PhD
University of Queensland
Brisbane, Queensland
Australia
“Development of pharmacological
chaperone therapy for MPS II”
Adriana Montano, PhD
Raymond Wang, MD
St. Louis University
CHOC Children’s Hospital
St. Louis, MO
Orange, CA
“Manifestations of cardiovascular disease
in Morquio A: Evaluation, assessment
and therapy”
General Grant
Richard Steet, PhD
Dr. Dwight Koeberl
University of Georgia
Duke University
Athens, GA
Durham, NC
“Adjunctive therapy for Hurler syndrome”
MPS III
Jeffrey Esko, PhD
University of California, San Diego
La Jolla, CA
“Delivery of sulfamidase to the brain”
ML II/II
Heather Flanagan-Steet, PhD
Complex Carbohydrate Research
Center
University of Georgia
“Investigating the role of cathepsin
proteases in NL II cardiac pathology”
35
research news
MPS VI – two years @ $25,000
each year
We have also recently identified
one FDA-approved drug, pentosan
polysulfate (PPS), which resulted in
remarkable clinical improvements in
MPS VI rats. We compared the effect
of oral, daily PPS administration
to once weekly, subcutaneous
injection in this animal model. The
bioavailability of injected PPS is
greater than oral, suggesting better
delivery to difficult tissues such as
bone and cartilage. Enhanced effects
of subcutaneous injection treatment
included greater endurance, better
improvements in cartilage and
bone and, most importantly, GAG
reduction in urine, serum and
tissues. Treating MPS patients with
PPS is medically plausible given that
the drug has been safely used in
2012 Research Grants—Second Year Reviews
research news
36
The reviews of the second year of research of these grants can be found on our website under the research section,
2012 grants, at www.mpssociety.org/research/2012-research-grants.
MPS II
MPS IVA
Gustavo H.B. Maegawa, MD, PhD
Johns Hopkins School of Medicine,
Department of Pediatrics
Baltimore, MD
“Induced-neuronal (iN) cells as told to
study the pathogenesis of neurological
manifestations in MPS II”
Shunji Tomatsu, MD, PhD
Nemours Children’s Clinic –
Delaware Valley of the Nemours
Foundation
Wilmington, DE
“Development of long circulating enzyme
replacement therapy for MPS IVA”
Clinical Trials
MPS I
MPS I Intrathecal Enzyme Replacement Clinical
Trial Information
The Los Angeles Biomedical Research Institute at
Harbor-UCLA Medical Center in Torrance, CA, and the
University of Minnesota are collaborating on a Study of
Intrathecal Enzyme Replacement Therapy for cognitive
decline in patients with MPS I.
The purpose of this research study is to find out
whether giving enzyme replacement therapy with
Aldurazyme® as an injection directly into the cerebral
spinal fluid (the fluid around the spinal cord and
the brain) can stabilize (keep from getting worse) or
improve cognitive decline in patients who have MPS I.
The term “cognitive decline” refers to a change for
the worse in our ability to think and learn. Difficulty
with thinking, memory, language, concentration and
decision making are some signs of cognitive decline.
To be eligible for this study, you or your child must be
willing and able to comply with the study procedures
and meet certain criteria:
• 6 years of age or older
• diagnosed with MPS I
• show evidence of cognitive decline on a screening
evaluation
Study participants will have:
• up to 10 treatments given one to three months apart
over two years (treatment group) or four treatments
given three months apart beginning at month 12
(control group)
•p
hysical examinations (general and neurologic)
•n
europsychological testing for cognitive decline and
MRI of the brain
• reimbursement/payment of travel expenses
Additional details about this clinical trial can be found
at the ClinicalTrials.gov website, www.clinicaltrials.gov;
search under “mucopolysaccharidosis.”
If you are interested in participating in or for more
information about this study, contact:
Dr. Agnes Chen
310.222.4160 / [email protected]
or
Dr. Patricia Dickson
310.781.1399 / [email protected]
MPS I Intrathecal ERT for Children Being
Considered for Transplantation
The University of Minnesota has recently obtained
FDA approval for the delivery of laronidase into the
spinal fluid of children with Hurler syndrome being
considered for marrow/cord blood transplantation.
The goal of these studies is to decrease the
neuropsychologic decline that has been observed
in children with Hurler from the time the patients
are initially evaluated to the time they are one year
from transplantation. The hypothesis is that there is a
significant delay in achieving sufficient enzyme levels
in the brain following transplantation, and that this
may be overcome by giving enzyme into the spinal fluid
until this occurs.
continued >>
>>
The study will involve four doses of laronidase given
during a lumbar puncture (spinal tap) approximately
three months before transplantation, at the time of
admission to the hospital for the transplant, three
months after the transplant and six months after the
date of the transplant.
Principal Investigator of the study, Dr. Paul Orchard,
can be reached at 612.626.2961 or by e-mail at
[email protected]. Alternatively, Teresa Kivisto,
nurse coordinator with the study, can be reached at
612.273.2924 or by e-mail at [email protected].
MPS II
A Controlled, Randomized, Two-arm, Open-label,
Assessor-blinded, Multicenter Study of Intrathecal
Idursulfase-IT Administered in Conjunction with IV
Elaprase in Pediatric Patients with Hunter Syndrome
and Early Cognitive Impairment (AIM-IT)
The purpose of this study is to determine the effect of
the Idursulfase-IT treatment regimen in conjunction
with IV Elaprase therapy, on cognitive and adaptive
behavior as measured by the DAS-II (Differential Ability
Scales, Second Edition) in pediatric patients with
Hunter syndrome and early cognitive impairment.
This study will be conducted in English and Spanish
speaking countries, with the following being
considered: Argentina, Australia, Canada, Colombia,
Mexico, United Kingdom, United States and Spain.
This is a controlled, randomized, two-arm, open-label,
assessor-blinded, multicenter study to determine the
effects on clinical parameters of neurodevelopmental
status of monthly IT administration of Idursulfase-IT
for 12 months in pediatric patients with Hunter
syndrome and early cognitive impairment who have
previously received and tolerated a minimum of four
months of therapy with Elaprase.
A total of 42 patients will be randomized to either
receive monthly IT treatment or to a no- treatment
control arm in a 2:1 ratio. All patients will be on
standard of care IV Elaprase throughout the study.
The SOPH-A-PORT Mini S, Implantable Access Port
will be utilized for IT administration of Idursulfase-IT.
In the United States, a limited number of patients
(nine in total) may be initially enrolled into the study.
If randomized to the IT treatment arm, these patients
may initially receive consecutive monthly IT doses of
Idursulfase-IT by lumbar puncture. At such time that
the use of the SOPH-A-PORT Mini S is authorized
by the FDA, these patients and any patient enrolled
thereafter who is to receive treatment will be implanted
with the device.
Patients that are under the age of 3 may be eligible for
inclusion into a sub-study which does not include a
no-treatment arm.
Key Inclusion Criteria
• males between 3 and 18 years of age
•d
ocumented diagnosis of MPS II mutation in the
I2S gene leaving FMR1 and FMR2 genes intact
• e vidence of early cognitive impairment due to
MPS II with GCA score between 55 and 85 (General
Conceptual Ability score, as measured by the DAS-II)
For more information, visit www.shiretrials.com or
www.clinicaltrials.gov, keyword “MPS II, Hunter syndrome.”
MPS III
A Randomized, Controlled, Open-label,
Multicenter, Phase IIb Safety and Efficacy Study
of HGT-1410 (Recombinant Human Heparan N
Sulfatase) Administration via an Intrathecal Drug
Delivery Device (IDDD) in Pediatric Patients with
Early Stage MPS IIIA
The purpose of this study is to assess the potential
clinical efficacy of HGT-1410 administered via a
surgically implanted IDDD in patients with MPS IIIA.
This study will be conducted globally, with the following
countries being considered: Argentina, Brazil, Canada,
France, Germany, Italy, Netherlands, Spain, United
Kingdom, and United States.
This is an open-label, randomized, parallel group,
controlled, multicenter study designed to evaluate the
efficacy and safety of HGT-1410 administered via an
IDDD versus no treatment in patients at a relatively
early stage of MPS IIIA disease.
A total of 18 patients will be randomized to one of
three groups: 45 mg HGT-1410 administered IT
every two weeks (six patients); 45 mg of HGT-1410
administered IT every four weeks (six patients); or a
no-treatment control arm (six patients).
continued >>
37
research news
Patients with Hurler syndrome who are between
8 and 36 months of age who have not previously
received enzyme therapy and are being considered
for transplantation at the University of Minnesota are
eligible. Patients receiving laronidase in the spinal
fluid also will be on intravenous laronidase prior to
transplant.
>>
research news
38
The SOPH-A-PORT Mini S, Implantable Access Port
will be utilized for IT administration of HGT-1410.
Key Inclusion Criteria
• age between 12 and 48 months
• documented diagnosis of MPS IIIA
•d
ocumented deficiency in sulfamidase enzyme activity
of ≤10% of the lower limit of the normal range as
measured in fibroblasts or leukocytes
•d
ocumented mutations in each SGSH allele OR
documentation of mutations in each SGSH allele
in a sibling affected by MPS IIIA
•d
evelopmental quotient score ≥60%, assessed by
cognitive evaluation at screening assessment using the
Bayley Scores of Infant Development, Version III
(BSID-III)
For more information, visit www.shiretrials.com or
www.clinicaltrials.gov, keyword “MPS IIIA, Sanfilippo
syndrome type A.”
Intracerebral Gene Therapy for MPS IIIA
Lysogene announced May 13, 2013, that the U.S. Food and
Drug Administration (FDA) granted orphan drug designation
to its lead gene therapy product SAF-301 for the treatment of
MPS IIIA. Lysogene’s 2014–2017 development plan,
including the clinical site(s) determination for the next clinical
development, currently is under preparation.
A one-year, phase I/II gene therapy clinical trial for
MPS IIIA is being conducted at Hôpital Bicêtre Assistance Publique des Hôpitaux de Paris. This is an
open-label, single-arm, monocentric, phase I/II clinical
study evaluating the tolerance and the safety of
intracerebral administration of adeno-associated viral
vector serotype 10 carrying the human SGSH and
SUMF1 cDNAs for the treatment of Sanfilippo type A
syndrome. The treatment plan consists of a direct
injection of the investigational medicinal product
SAF-301 to both sides of the brain through six imageguided tracks, with two deposits per track, in a single
neurosurgical session in four patients with MPS IIIA.
The primary objective is to assess the tolerance and the
safety associated to the proposed treatment through a
one-year follow up. The secondary objective is to collect
data to define exploratory tests that could become
evaluation criteria for further clinical phase III efficacy
studies.
Lysogene, the biotechnology company sponsoring the
clinical trial, announced June 14, 2012, that the last
planned patient had been treated.
Primary Investigator, Dr. Marc Tardieu, can be
reached at 94275, +33 1 45 21 32 23 or via e-mail at
[email protected].
Additional information about the study can be found at
www.clinicaltrials.gov/ct2/show/NCT01474343?term=
MPS+IIIA&rank=4.
MPS IV
On July 7, 2014, BioMarin Pharmaceutical Inc.
announced that Health Canada has approved
VIMIZIM™ (elosulfase alfa) for long-term enzyme
replacement therapy in patients with a confirmed
diagnosis of MPS IVA (Morquio A syndrome.) This
follows the April 28, 2014, announcement that the
European Commission has granted marketing
authorization for VIMIZIM, the first specific treatment
approved in the European Union for MPS IVA in
patients of all ages. As the first drug ever approved for
Morquio A syndrome, VIMIZIM has been granted
orphan drug status in the European Union, which
confers 10 years of market exclusivity.
BioMarin announced February 14, 2014, FDA approval
for VIMIZIM for the treatment of patients with MPS IVA.
On Feb. 20, 2014, BioMarin announced that the
European Commission is expected to render a final
decision for VIMIZIM in the second quarter of 2014. If
approved by the European Commission, BioMarin would
receive marketing authorization for VIMIZIM in all EU
Member States.
The safety and efficacy of VIMIZIM were assessed in a
24-week, randomized, double-blind, placebo-controlled
clinical trial of 176 patients with MPS IVA (MOR-004).
The primary endpoint of the trial, change in six-minute
walk distance at 24 weeks, was statistically significant in
patients receiving weekly infusions of VIMIZIM at the
dose of 2 mg/kg with a mean increase of 22.5 meters
(p=0.0174) over placebo.
In patients who continued to receive VIMIZIM 2 mg/kg
once per week for another 48 weeks (for a total of
72-week exposure), walking ability was sustained to a
similar level that was achieved during the first 24 weeks
of treatment in the placebo-controlled trial, MOR-004.
Overall, sustained improvements across multiple efficacy
measurements and across multiple clinical trials
provided evidence of clinical benefit to patients with
MPS IVA, a chronic, progressive disease in which clinical
deterioration is the expected course.
continued >>
>>
BioMarin will offer support to patients through its
BioMarin Patient & Physician Support (BPPS) team.
Through BPPS, patients receive live, personalized
support by a specialized case manager who will research
insurance coverage and alternative benefit options. BPPS
will help patients obtain coverage and minimize out-ofpocket expenses and find alternative financial assistance
for treatment. To reach a BPPS case manager, call,
toll-free, 1.866.906.6100 or e-mail [email protected]. For
more information about VIMIZIM, visit www.VIMIZIM.
com.
MPS VII
Ultragenyx Pharmaceutical Inc., announced
Dec. 4, 2013, the dosing of the first patient in a phase
I/II study of recombinant human beta-glucuronidase
(rhGUS, UX003) for MPS VII, in Manchester, UK.
MPS VII is an ultra-rare autosomal recessive lysosomal
storage disorder characterized by a deficiency of the
enzyme beta-glucuronidase that results in a severe
multi-system disease.
William Sly, MD, chairman emeritus of the Department
of Biochemistry at Saint Louis University, commented,
“Patients, families and researchers have been waiting
many years for this advancement in the treatment of
MPS VII. The initiation of clinical testing of rhGUS is
the culmination of decades of work.”
The phase I/II open-label clinical trial will assess the
safety and efficacy of rhGUS in a 12-week primary
analysis phase, followed by dose-exploration and longterm extension. Five patients between 5 and 30 years of
age inclusive will be enrolled and administered rhGUS
every other week via intravenous infusion. Interim data
from the phase I/II study is expected in 2014.
“MPS VII is a devastating condition that has been
neglected by the drug development community despite
20 years of extensive nonclinical research led by Dr.
Sly and his colleagues,” said Emil D. Kakkis, MD, PhD,
chief executive officer of Ultragenyx. “The initiation
of this phase I/II study is an important milestone for
Ultragenyx and for patients with MPS VII.”
Additional information about the study can be found at
http://clinicaltrials.gov/ct2/show/NCT01856218?term
=MPS+VII&rank=1.
ML II/III
There currently are no therapy clinical trials for
ML II/III.
39
research news
The adverse events observed in clinical trials were similar
to those seen in other enzyme replacement therapies. In
the phase III trial, the most common adverse reactions
(≥10% and a higher incidence than placebo) that
occurred were pyrexia, vomiting, headache, nausea,
abdominal pain, chills and fatigue. No new types of
adverse reactions were reported in the phase III
extension trial. The most common adverse reactions
(≥10%) observed across pre-marketing clinical trials
were similar in type and frequency as those observed in
the placebo-controlled trial. Acute reactions requiring
intervention were managed by either temporarily
interrupting or discontinuing infusion, and
administering additional antihistamine, antipyretics
or corticosteroids.
RESOURCES AND
40
helpful information
Mucopolysaccharidoses and Social Security Benefits
by
Lisa Giorgetti, community liason, Social Security Disability Help
www.disability-benefits-help.org
MPS symptoms can range from dwarfism to intellectual disability or vision problems. When these traits present
themselves more severely, an individual with any combination of these affects may be unable to work and earn a
living, or function at age-appropriate levels.
You may be eligible for disability benefits from the Social Security Administration. These benefits can pay for
therapy or for your daily expenses, making room for a much better quality of life. While the application process can
require much time and effort, understanding the eligibility requirements and application process is beneficial in
receiving the financial support you deserve.
Disability Benefit Programs
The Social Security Administration (SSA) provides two financial assistance options to those with MPS.
The first, Social Security Disability Insurance (SSDI), provides benefits to working adults when a prolonged medical
condition keeps them from working. SSDI is funded by Social Security taxes and available only those who have paid
Social Security taxes for a significant amount of time.
In order to qualify for SSDI, you will need to have a record of employment. This record will show that you have
not only paid Social Security taxes, but also you have earned the required number of work credits needed for
qualification. Work credits are based on yearly earnings and applicants can earn up to four credits each year.
Those who may not be eligible for SSDI may qualify for Supplemental Security Income (SSI) instead. This program
requires that its applicants meet certain financial restrictions, showing they demonstrate financial need. SSI is
beneficial for elderly applicants over age 65 or children who may not have been able to work long enough to qualify
for SSDI benefits. The SSA evaluates applicants based on portions of their income and the value of resources they
own. In the case of a child, the SSA will evaluate parts of a parent’s finances under the assumption that the child
also shares in these funds, called the parental deeming process. Parents’ income and resources will not be used in
the determination process once the individual with MPS turns 18.
www.disability-benefits-help.org/ssi/qualify-for-ssi
Medical Eligibility
The SSA has a guidebook of conditions it considers disabling called the Blue Book. Applicants must demonstrate
that their condition fits a listing of requirements in the Blue Book for a known disability. If the applicant can’t meet
a listing, they can also match an associated symptom or complication in severity to receive benefits.
Because MPS affects children from birth and there is no cure, the most common way to qualify for one of these
conditions is by meeting Blue Book listing 110.08 – A Catastrophic Congenital Disorder. This listing is met when:
• death is expected within the first months of life; or
• there is very serious interference with development or functioning.
Usually, the condition has affected many regions of the body.
continued >>
>>
Those with MPS also may qualify under listings of associated symptoms, such as:
• 12.05 – Intellectual Disability (112.05 for children)
• 4.06 – Symptomatic Congenital Heart Disease (104.06 for children)
• 100.00 – Growth Impairment
• 1.02 – Major Dysfunction of a Joint (due to any cause) (101.02 for children)
• 2.10 or 2.11 – Hearing loss treated or not treated with cochlear implant (102.10 or 102.11 for children)
The Application Process
The application can be completed online or with a representative from the SSA. Applications for children must be
completed in person and can’t be submitted online, however an adult can choose either method.
www.disability-benefits-help.org/content/application-process
Before you begin, gather all medical and technical documentation needed for each step of the process, including:
• medical records
• lab results
• doctor’s notes
• hospitalizations
• treatments received
• If you’re applying for SSDI, you will need to present a sufficient record of employment.
• If you are applying for SSI, you will need financial information to demonstrate you meet the income and
resource limits.
The turnaround time for a decision from the SSA is usually a few months. During that time, you will be asked to
present your claim and possibly attend evaluations from examining doctors. It may be helpful to hire representation
to help you prepare all the required information and present it to the SSA in a way that improves your chances of
qualifying. Disability advocates and attorneys are specialists when it comes to the application process and know the
best way for you to qualify according to your specific conditions.
In the event your claim is denied, you may appeal the decision. The appeal is a separate process than the
application and can be completed online within 60 days of the denial.
Knowing how to navigate the application process before you begin seeking Social Security disability benefits will
increase your chances of correctly submitting a claim and eventually being approved for the financial assistance your
family deserves. The relief the benefits provide can greatly improve quality of life for families dealing with MPS.
Genzyme Co-Pay Assistance Program
Genzyme’s Co-Pay Assistance Program assists eligible individuals who are prescribed treatment with one of
Genzyme’s enzyme replacement therapies with their drug- and infusion-related (mixing and administering of
the drug as well as infusion supplies such as saline, IV tubing, etc.) co-pay expenses, including coinsurance and
deductibles, regardless of financial status.
Once enrolled in the Co-Pay Assistance Program, Genzyme will cover
100 percent of your eligible out-of-pocket drug and infusion costs up to the program maximum. The program is
effective from the date of approval through the end of the current calendar year (Dec. 31).
Who is eligible?
Regardless of financial status, the program is open to individuals who:
• have primary commercial insurance.
• are enrolled in Genzyme’s Charitable Access Program.
• are prescribed treatment with one of Genzyme’s enzyme replacement therapies.
continued >>
resources and helpful information
Applicants with MPS also are eligible for an expedited application process called compassionate allowances, which
seeks to pay benefits to those with very severe and obvious disabilities. Compassionate allowances enable individuals
to qualify based on minimal medical evidence.
41
>>
resources and helpful information
42
Who is NOT eligible?
As required by law, the program is not available to individuals who:
• have coverage or prescriptions paid for in part or full under any state or federally funded healthcare program,
including:
– Medicare
– Medicare Advantage Plans (Example: FreedomBlue offered through Blue Cross Blue Shield)
– Medicaid
– Medigap
– Veterans Affairs, Department of Defense or TRICARE
– High Risk Pool or Pre-existing Condition Insurance Plan (PCIP)
– In accordance to state law, infusion-related costs are not covered for commercially insured patients residing in
MA, MI, MN, RI.
New in 2014:
• In addition to providing co-pay assistance for eligible out-of-pocket drug and infusion related co-pays,
co-insurance and deductibles, Genzyme also will provide assistance for mixing of the drug as well as infusion
supplies such as saline, IV tubing, syringes, etc.
• Patients who currently are enrolled in an insurance plan through the Health Insurance Exchanges are eligible
to enroll in the Genzyme Co-Pay Assistance Program.
• Patients who currently are enrolled in a Federal Employee Plan, as well as postal service workers, are eligible to
enroll in the Genzyme Co-Pay Assistance Program.
Resources for
Siblings
http://siblingleadership.org
The mission of the Sibling
Leadership Network is to provide
siblings of individuals with
disabilities the information,
support and tools to advocate for
their brothers and sisters and to
promote the issues important to
them and their entire families.
SibNet, the first and largest online
community for adult brothers and
sisters from around the world, is
co-sponsored by the Sibling
Support Project and the Sibling
Leadership Network. Visit www.
siblingsupport.org/connect/
the-sibnet-listserv for more
information.
Did You Know There are Several Family
Support Programs Available to Help
Members of the National MPS Society?
• The Social Gathering Program — Families can request funds up to $750 each
year to help with organizing a picnic or other social function.
• The Family Assistance Program — Families or adults with MPS and related
diseases can request up to $3,000 annually to purchase durable medical
goods not covered by insurance or other sources.
• Conference Scholarship Program — Families or adults with MPS or related
diseases can apply for financial assistance to attend an MPS Society
conference.
• Continuing Education Scholarship Program — Individuals with MPS and
related diseases and their siblings and children can apply for a $1,000
Continuing Education Scholarship.
• Extraordinary Experiences — Individuals with MPS and related diseases,
ages 13 and older, can apply for a grant of $1,000 to create an
Extraordinary Experience.
• Medical Travel Assistance Program — The program reimburses up to
$500 per individual with MPS or related diseases, per 12-month period,
in transportation costs for member families traveling to a medical
appointment more than 200 miles from their home.
Contact Laurie Turner, [email protected], for more information or
apply online at www.mpssociety.org under “Support.”
Transitioning to Adulthood
Life is full of transitions. An important transition for youth with special healthcare needs and their families is the
transition to adulthood. To make this process smooth and effective, begin early. Create a statement of needed
transition services, addressing areas such as instruction, employment, community experiences and adult living.
• Transition to Adulthood—explaining guidelines for transition and why transition is important
(www.spannj.org/transition).
• Healthcare Transition—resources and information focusing on a young adult’s transition from pediatric
to adult healthcare (www.gottransition.org).
MPS II Website
MPS I Website
www.hunterpatients.com
www.MPSIdisease.com
This site is a resource center providing information about the genetics,
diagnosis and management of MPS II, as well as information about the drug
development process. It also provides a comprehensive overview of MPS II,
including resources for patients and healthcare professionals, information
on clinical trials and a patient outcomes survey, as well as the ability to stay
informed as new information about MPS II becomes available on the site.
In addition, www.hunterpatients.com is an exclusive forum for primary
caregivers of children with MPS II to connect and share their personal
stories and experiences, as well as give and receive tips for facing everyday
challenges. This online community aims to strengthen the network of Hunter
parents, and to increase awareness about MPS II by encouraging primary
caregivers to talk about Hunter syndrome with members of their community
and to use their personal experience to help others understand this lifealtering condition. The Hunter Parents Community is not a forum to discuss
medical, product or treatment options, but rather allows MPS II parents to
support and learn from each other, and to raise awareness.
HealthTalker—An MPS II Online Community
The Hunter Parents Community is an online community sponsored by
Shire. The website is an exclusive forum for primary caregivers of children
with MPS II to connect and share their personal stories and experiences,
as well as give and receive tips for facing everyday challenges. In addition
to strengthening the network of Hunter parents, the community aims to
increase awareness about MPS II by encouraging primary caregivers to talk
about Hunter syndrome with members of their community and to use their
personal experience to help others understand this life-altering condition.
The Hunter Parents Community is not a forum to discuss medical, product
or treatment options, but rather allows MPS II parents to support and
learn from each other, and to raise awareness. To join the Hunter Parents
Community, go to www.HunterPatients.com.
A website has been developed
by Genzyme to provide parents
and patients with information
and resources on MPS I. This site
provides valuable information on
the disease, diagnosis, on-going
clinical trials, and other references
and services available to patients.
Visit www.MPSIdisease.com.
MPS I Registry
Access to information is critical to
providing the best care for patients
with MPS I. However, information
on the disease is limited because
of its rarity. A resource developed
by Genzyme is now available for
your physician or health care
professional that is dedicated to
improving the understanding of
MPS I. With the MPS I Registry,
your physician can access your data
and compare it to aggregate data
from around the world. Ask your
physician to call 1.800.745.4447 ext.
17021 for more information.
Aldurazyme®
Website
www.Aldurazyme.com
A website has been developed
by Genzyme to provide parents
and patients with information on
Aldurazyme. The site includes a
link to ask questions regarding
MPS I or anything else related to
treatment. Feel free to use this
mechanism to reach a healthcare
professional at Genzyme who will
respond to your query in a timely
manner. Visit www.Aldurazyme.com.
43
resources and helpful information
For more information, check out these transition resources:
MPS VI Website
www.MPSVI.com
resources and helpful information
44
BioMarin’s website,
www.MPSVI.com, is designed
especially for individuals with
MPS VI (Maroteaux-Lamy
syndrome), their families, and
for healthcare professionals who
care for patients with MPS VI.
This site provides education and
information about MPS VI which
may be helpful to share with
family members, educators and
healthcare providers.
MPS VI Community
Website
www.MPSVI.net
Log into the first website devoted
entirely to the MPS VI community
and:
• Meet other people with MPS VI
• Tell your story
• Chat in real time
• Search postings by topic
Register for free to connect with
your MPS VI community.
NAGLAZYME.com
NAGLAZYME.com provides
expanded content about MPS VI,
its diagnosis and treatment with
NAGLAZYME® (galsulfase) enzyme
replacement therapy.
National Family Caregivers Association
As a care provider, it is easy to become so focused on the one you are caring
for that you forget to take care of yourself. The National Family Caregivers
Association (NFCA) educates, supports and empowers individuals who care
for a loved one with an illness or disability. From tips and how-to guides,
to a story bank and pen pal program, the NFCA caregiver resource center
provides a wealth of resources to support you as a caregiver.
Sign-up to be part of the NFCA’s family caregiver community at
www.nfcacares.org/join_nfca/ind_mem.cfm.
Visit www.nfcacares.org/caregiving_resources for more information.
Hearing Aid Funding Assistance
The primary focus of international service organization Sertoma is on
assisting the more than 50 million people with hearing health issues
and educating the public on the issues surrounding hearing health. The
organization offers a hearing aid recycling program, a college scholarship
program for young adults with hearing loss, as well as various community
support programs. For more information, visit www.sertoma.org.
Hear Now is a national non-profit program sponsored by The Starkey
Hearing Foundation that provides hearing aids for people with limited
income. Visit www.starkeyhearingfoundation.org for more information.
Assistive Technology Funding Assistance
The National Assistive Technology Project supports the advocacy efforts
of attorneys, advocates, service agencies, persons with disabilities and
their families as they seek funding for assistive technology services and
devices. For a list of participating organizations in your state, go to
www.nls.org/paatstat.pdf.
Electric Scooters for Little People
Adaptive Living offers the GoGo Elite electric scooter for little people. With
a shorter seat height, crutch holder and extra large rear basket, the GoGo
Elite provides a comfortable solution for those with a smaller stature.
For more information, visit http://adaptiveliving.com.
MPS Awareness Cards
www.morquiosity.com offers a
variety of information for MPS IVA
patients, including, a description
of the disease, cause, early signs
and symptoms, management, and
tests and diagnosis. Learn more
about the people who make up the
Morquio A community, discover
helpful online resources, and create
a list of questions to bring to your
next doctor’s appointment.
www.morquioanswers.com
is a resource for healthcare
professionals providing information
on pathology, systemic effects,
natural history, management, and
resources and publications.
MPS IVA Registry
www.morquio.com
The 411 on Disability Disclosure:
A Workbook for Youth with Disabilities
The 411 on Disability Disclosure:
A Workbook for Youth with Disabilities is designed for youth and adults
working with them to learn about disability disclosure. This workbook helps
young people make informed decisions about whether or not to disclose
their disability and understand how the decision may impact their education,
employment and social lives. Based on the premise that disclosure is a
very personal decision, the workbook helps young people think about and
practice disclosing their disability.
The workbook can be downloaded in several formats at
www.ncwd-youth.info/411-on-disability-disclosure.
Guide for Understanding the New Healthcare
Law Available
What’s going on with the new healthcare law? What does it really do for
you and your family? If you’re confused and want to know the facts, you’re
certainly not alone. Consumers Union, the publisher of Consumer Reports,
has created a consumer guide to help you understand your options,
including Web resources where you can get additional information.
Go to www.prescriptionforchange.org/guide. For more information visit
www.ConsumerReportsHealth.org/insurance.
Information about MPS IVA can
be found at www.morquio.com.
Also available at this website is
the Morquio registry where adults
with MPS IVA can register and
families can register their child
with MPS IVA. Once registered, it
is recommended that updates be
made at least yearly. This natural
history information is critical for
development of treatments for
MPS IVA, providing evidence of
drug effectiveness and supporting
the approval of the drug.
http://vimizim.com
Discover how VimizimTM, the
enzyme replacement therapy for
MPS IVA, works, read success stories
of individuals currently taking
Vimizin, find a geneticist with MPS
IVA experience near you, read tips
on how to talk to your doctor about
Vimizin, and learn how to get access
to this new treatment.
45
resources and helpful information
MPS Awareness Cards are a quick and easy way to explain to people in your
community about MPS and raise awareness about our diseases. A packet of
20 cards can be purchased for $3 each, which includes shipping and handling.
For more information, visit our website and click “Logo” at the top, or call
919.806.0101.
MPS IVA Websites
Ship To (if different than Purchased By):
National MPS Society Logo Items Order Form
Purchased By:
______________________________________________________
NA
L MPS S
OC
of A c hie v e
I
2014
TY
40
m
Y
$17.00
$19.00
PRICE EACH TOTAL EACH
rs
IO
ea
E
______________________________________________________ 1974
Name______________________________________________________________
___________________________________________________________________
______________________________________________________
______________________________________________________
Daytime Phone______________________________________________________
______________________________________________________
Address_____________________________________________________________
Evening Phone______________________________________________________
______________________________________________________
COLOR
E-mail Address_______________________________________________________
ADULT SIZE
CHILD SIZE
$19.00
Please see pricing chart for sizes over XL
ADD’L COST
White
$17.00
QTY
SIZE
+ $2.00
White
ITEM DESCRIPTION
2XL
n/a
40th anniversary
t-shirt available in
white only
1
Large
(if applicable)
40th Anniversary T-Shirt (SAMPLE ORDER)
1
# Items
S&H Charge
$12.00
$8.00
$4.00
7–8
4–6
1–3
SHIPPING & HANDLING CHARGES
Please add appropriate shipping & handling to your order.
For orders of 9 or more shirts please call us at 919-806-0101.
TOTAL AMT. DUE
S & H (see below)
ITEM TOTAL
40th Anniversary T-Shirt (SAMPLE ORDER)
ADDITIONAL NOTES OR INSTRUCTIONS
Make check or money order payable to National MPS Society
Mail your order to:
National MPS Society, PO Box 14686, Durham, NC 27709
Please allow 4–5 weeks for delivery.
Thank you for your purchase. All proceeds go to the National MPS Society.
For credit card purchases visit www.mpssociety.org/store.
ts
en
T
NA
MPS Pendant Available!
925 Sterling silver with rhodium plating ($62.50, includes shipping)
In 2000 the MPS/ML Forum
opened its doors to parents who
have made lifelong friendships.
Eleven years later the forum is
still providing ways for families to
connect. If you’ve never been to
the forum, please drop in and meet
everyone. If you haven’t been for
awhile, come back home. You’ve
been missed!
Brass with rhodium plating and leather chain
($49.50, includes shipping)
Pendants will ship directly from the National
MPS Society while supplies last. Based on
demand we intend to order more, but it can
take up to six weeks for additional shipments
to arrive. For more information visit our
website and click “Logo” at the top, or call
919.806.0101.
Furniture for Little People
little people, BIG DESIGN is designer furniture for short people, and
people with dwarfism or short stature. Created by Tracy Steele Designs,
this furniture meets the ergonomic challenges of little people without
sacrificing good design.
little people, BIG DESIGN furniture features:
• short seat depth and straight backs to help support the back and neck
• low seat height so legs rest comfortably on the ground
• high arms to rest on while reading
• solidly built to support the weight of adults
• steps for easy accessibility
• adjustable for the height of guests
For more information, visit www.lpbigdesign.com.
Shire Offers
Assistance Programs
Shire HGT provides co-pay
assistance for eligible patients
in the United States who have
commercial insurance. Shire
believes that the costs associated
with rare disease treatments should
not be a barrier to patient access.
Co-pay Assistance Program:
The OnePath Co-pay Assistance
Program offers co-pay assistance
for certain patients who need
assistance paying for out-of-pocket
medication costs.
Patient Assistance Program:
The OnePath Patient Assistance
Program has been set up for
certain patients who currently are
uninsured, or have insurance that
does not cover treatment. OnePath
may be able to help patients get
access to treatment and find
insurance that does cover their
medication.
For more information, visit
www.onepath.com.
47
resources and helpful information
Exclusively designed for the National MPS Society, this beautiful pendant is a
compelling representation of the courage our families have in their journey
with MPS and related diseases. Money raised from the sale of this beautiful
pendant will support the general research program and help find treatments
and cures. Please help us make a difference and treat yourself and your loved
one to this beautiful pendant that transcends time and is unlike any other. It
is a perfect any occasion gift for both women and men.
www.mpsforum.com
NeedyMeds
resources and helpful information
48
NeedyMeds is a non-profit resource
devoted to making information
about assistance programs available
to low-income patients and their
advocates at no cost. Databases
such as Patient Assistance Programs,
Disease-Based Assistance, Free
and Low-Cost Clinics, government
programs, special needs camps and
other types of assistance programs
are just some of the resources
available.
Parent Educational Advocacy Training
Center: Help for Families and Professionals
The Parent Educational Advocacy Training Center (PEATC) serves families
and professionals of children with disabilities in the Commonwealth of
Virginia. PEATC promotes respectful, collaborative partnerships between
parents, schools, professionals and the community that increase the
possibilities of success for children with disabilities.
PEATC’s mission is to build positive futures for Virginia’s children by
working collaboratively with families, schools and communities in order to
improve opportunities for excellence in education and success in school
and community life. Its focus is children with disabilities.
For more information visit www.peatc.org.
Visit www.needymeds.com for more
information.
N AT I O N A L M P S S O C I E T Y M E M B E R S H I P F O R M
YOUR NAME
AFFECTED INDIVIDUAL’S NAME
DATE OF BIRTH
DIAGNOSISRELATIONSHIP
ADDRESS
Corporate Memberships Available
Would you like your name to appear
in our online directory? b Yes b No
Would you like to receive Courage,
the Society’s newsletter? b Yes b No
CITY / STATE / ZIP
Would you like our publications in
b electronic (e-mailed) format or
b hardcopy (mailed) format
PHONE
PRIMARY E-MAIL
b $50 Family
b $80 Foreign
b $75 Professionals
SECONDARY E-MAIL
Please send your membership form and check to:
National MPS Society / PO Box 14686 / Durham, NC 27709-4686
Join or renew your membership online at www.mpssociety.org/become-a-member.
REMEMBERING
our children
Ryan Duffy
17, MPS II, 7/20/14
Kimberly Fowler
26, MPS IIIA, 8/17/14
Stacy Lynn Wain (MPS I)
10/4/87 – 5/19/14
Stacy Lynn Wain, age 26, of Monroe, died May 19 at the University of Michigan, Mott’s Children’s Hospital, Ann
Arbor. Born Oct. 4, 1987, in Toledo, she was the daughter of Terry and Nancy Wain. She was a 2006 graduate of
Dundee High School and attended Monroe County Community College.
Stacy was the first unrelated bone marrow transplant recipient in the United States, performed at the University of
Iowa when she was just 18 months old. Stacy did not consider her condition as a disability.
She was the current secretary of the Kiwanis Aktion Club and the River Park Plaza Advisory Board. She was a
member of Prince of Peace Lutheran Church, the National Cat Fanciers Association, and the River Park Plaza
Garden Club. Stacy enjoyed being in warm weather, laughing, reading, being with her family and listening to
country music, especially Keith Urban. She loved shopping for shoes, scrapbooking, making hair ties and candles,
and her Himalayan/Ragdoll cats.
Resources for Coping with Grief
•H
ello Grief is a place to share and learn about grief and loss. This
beautiful online community includes articles, resources and forums.
www.HelloGrief.org
•F
oreverSibs strives to honor and recognize the unique role of brothers
and sisters with rare diseases through social support and education,
thereby decreasing their anxiety and isolation.
www.ForeverSibs.org
• Comfort Zone Camp is a fun and safe place for grieving children. A
community where kids can come year after year and obtain tools to help
them cope with their daily lives.
www.ComfortZoneCamp.org
49
donations
50
in memory of…
Nathan Bivens
Boone Dermatology Clinic
Sebastien Cairns
Debbie Campbell
Matthew Caldwell
Robert and Marjorie Austin
Brinley Craig
Beverly Wingham
Gail Finney and in memory
of her grandsons Clinton and
Zachary Szemanski
Mike and Grace Bodura
Lois Finney
Gary and Joyce Hagosky
Betty Hollenbeck
Lori and Stephen Katich
Steve and Marjorie Katich
David and Lorraine Miller
Steven and Patti Page
Mr. and Mrs. Greg Racich
Fred and Donna Reyes
Jonina and Jonathan Schonfeld
Richard and Shirley Schultz
June Snyder
Tracy Szemanski
Mary Weimer
Mr. Thomas Fontenot
Fred Kouri
Zachary Willis
Ryan and Brayden Kapes
Helen Allison
Paula Davis
Marilyn Reese
Stephanie Koch
Carol Myers
in honor of…
Sean Kisielnicki
Dustin Matz
Scott Brogan
Ann Jones
James Oliger Jr.
Mary Anne Oliger
Chip and David Radius
Frankel Family Foundation, Inc.
Willis and Joslyn Kleinjan
Jaeda Robson
Susan and Michael Blehert
Kevin and Sheila George
Jill Lacasse
Ashley Riggs
Richard Rotelli
Michael and Veronica Vacca
Mrs. Katharine Sampson
Mel and Millie Anhalt
Marvin Shapiro
Mel and Millie Anhalt
Mark Smales
Andrew Mangene
Evelyn Specian
Ted and Margie King
Neal Stewart
Rachael Adams
GL Wentworth Company
Matthew Austin
May and Don Beaudin*
Jack Bennet
Dean Turpin
Chloe Blanc
Margie Gonzalez
Gabriele Jimenez
Michael Lewandowski
Edith White
Madison Lewis’
18th birthday
Ann Lewis*
Sara Wells
Guy Williams
Olivia Lipscomb
Annabelle Bozarth
James Everhart
Carmen and Don Farrell
Douglas Louison and family
Damien Brydon
Howard Lenow
Barbara Leach
Waverly and Oliver McNeil
Hunter, King and Nash
Clubbs
Victor Marsh
Brittany and Jeremy Clubbs
Lisa Huber
Denise Dengel
Logan Piefer
Ron and Barbara Dengel*
Richard and Diana Schulze
Robert and Susan Sohl
Liam Denneen’s 4th birthday
Marilyn Dubovsky
Jackson Dunn-Kraus
Lucas Montgomery
Jennifer and Savannah
Prince
Kajima Foundation
Mel and Millie Anhalt
Jeannie Thompson
Patricia Shore
Janet and Brian Stankus
Danny Gniazdowski
Cap Sweet and in honor of
his grandson Blaine Elliott
Lindsey’s Efird’s
16th birthday
Karen Bowe
Laura McKeithen
Mary and Kenneth Nelson
Debbie Turner*
Jack and Barbara Sorter
Legrand and Susan Richardson
Max Goodell
Ann Goodell*
Natalie Haggett and in honor
of her great-grandson Sidney
Zachariah Haggett
Ann Ohl
Spencer Holland and in honor
of Maddie and Laynie Holland
Holland family reunion
Tom Holloway
Lennie Forkas
Scotty Jewell
J. Alan Cameron
Community Concepts, Inc.
Bill and Shirley Cook
Phillip and Teresa Jeffers
John and Donna Mack
Mark and Yvonne Steinhauer
Amanda Keith
Richard and Carol Anderson
Allison Kirch
Marie Bonville
Wells College
James and Karen Barry
Gary and Judith Cox
Ginger Stark
Ruth Toth
William and Peggy Cook
Dean Glock and in honor of
his grandson Travis Glock
Tiffany Condit
Elizabeth Morris
Ashley Voisinet
John and Margaret Vallante
Zachary Wahl
Kaminetzky family
Stacy Wain
Charles and Elizabeth Bohland
Heidi and Keith Caswell
Robert and Mildred Degraer
Annette Ferreira
Donna Mosley
Amanda Pickford
Caroline Rehberg
Tony and Belinda Webb
Maria Williams
Jack Frye
Kathlean Butcher
Nadine Hartman
Lisa McCloskey
Christina Morgan
Brittania Paris
Christopher Reichel
Kendra Gottsleben
Wenda and Kevin Bransford
Blake Halk
Rhonda McEldowney
Michelle Hopkins
Helen Allison
Sydnee Jensen
Linda Cohen
Wyatt and Gavin Jones
Debbie Koester
Isabel Jurado
Jamey Dagenhart
Allison Restenmayer
Cheryl Sorter
Landon and Blake Stack
Amy Joshua
Ronnie Takakjy
Marlene and Ronald Takakjy
Jack Todd
Sammy and Patty Todd
Ethan Waddell
Elaine Page
Josie Williams
Rebecca Spiess
fundraisers
Annual Diamondhead Bridge Club
fundraiser hosted by Janelle
Kunellis in honor of Allison
Restemayer
Armorel School District Key Club
MPS Awareness Balloon Release
held in honor of Ronnie Cato
Asa Messer Elementary School Dress
Down Friday in memory of Aurora
Laorenza
William and Peggy Cook
continued >>
>> Lindsey Efird’s Sweet 16 birthday
Sauk Trail Walk-a-thon held by
5th grade class of Sauk Elementary
in honor of Austin Noll
Swinging Fore MPS Angels, golf
tournament hosted by Jon
Musselman in memory of
Ryan Mask
VanCleave Mary Kay fundraiser held
by Amy VanCleave in honor of
Danny Hinton
Volley for Support held in honor of
Jackson Dunn-Kraus
Woodsville High School fundraiser
hosted by Lori MacPherson in
honor of Sasha Segal
donations
George Banks
Amy Barkley
Sandra Barstow
Richard Bosse*
Margaret Cohen
Janet and Leo Cook
James and Jo Ann Cradock
Jeanne and Maurice Drew
Elks Lodge 2235 Carteret BPOE
Michael Farmer
Rod and Kathy Finzel
Greg and Sarah Fletcher
Kevin and Andrea Gates
Girl Scout Troop #1114
Samantha Gulino
Kimberly Hamilton*
Scott and Lynn Hopkins
Todd and Jennifer Howard
Junior Womens Club of Hilton
Village, Inc.
Amy Kemp
Fred and Joyce Koehler
Deanna Leach
Joan and Mark Lessing
Beverly Lewis
Jenn and Jamie Lipscomb
Rebecca Lonergan
Barbara Lyons
Dorothy Mask
Mercer County Civic Foundation
Joe and Paige Migliozzi
Mitchell and Cherylynne Moore
Richard and Eva Morgan
Theresa Morris
Kevin Myers
Ohio Association for Pupil
Transportation
James Olson
Thomas and Vickie Patterson
Beth A. Pletcher
Barbara Pryor
Sam and Nancy Ramsey
Brandon Reichert
Carl and Donna Rose
Richard and Marcia Roush
Arthur and Marilyn Sheekey
David and Rebecca Silkey
Mike and Barbara Smith
Cal Stempel*
Charles Vite*
Jeremy and Jill Wood Weishaar
Claude and Roselyn Wells*
Barbara and David Wiedman
Millette Wolfe
matching gifts
Allstate Giving Campaign
Bottomline Technologies
EP Energy
Kimberly Clark Foundation
Thermo Fisher Scientific Matching
Gift Program
Verizon Foundation
* Annual Fund donor
NEW MEM B E R S
Justina Bernhardt
Faith Harris Dunkirk, MD
Jenny Malavich
Brian and Karen Rock
Whitehall, MI, mother of Gabriel and
Anna Bernhardt, MPS II
aunt of Saniyah Lanae Pumphrey,
MPS IVA
Dracut, MA, mother of Amy and
Amber Malavich, MPS I
Houston, TX, aunt and uncle of
Jackson Dunn-Kraus, MPS II
Lynne Blezard
Jake and Ashley Hayes
Patricia McClelland
Emily Shockley
Mattapoisett, MA, mother of Jared,
MPS IIIC
Denison, TX, parents of Cooper Hayes,
MPS I
Shreveport, LA, sister of Loren
McClelland, MPS I
Anaheim, CA, mother of Frank Damien
Martinez, MPS IIIB
Krystal Brinson
Sherri Hayes
Chantel Palmer
Crystal Stern
Valdosta, GA, mother of Maalik Julius
Cobb, MPS I
Indianapolis, IN, mother of Makayla
Hayes, MPS VI
Ostrander, MN, mother of
Brody Larson, MPS I
Britta and Alec Brydon
Justin and Bridget Hysell
Washington, DC, sister of Daniel
Brown and mother of Mehki’ Palmer,
MPS II
Portland, ME, parents of Damien
Brydon, MPS II
Canton, OK, parents of Ryan Hysell,
MPS II
Deidra and John Powell
Osyka, MS, grandmother of Matilyn
(Mattie) Jean LaLa, MPS I
Sarai Cadena
Lenny Jimenez
Kingsville, TX, mother of Julio Cesar
Almaraz, MPS II
Florham Park, NJ, father of Benjamin
Jimenez, MPS II
Jocelyn and Vincente Collins
James Kappel
Ashby, MA, grandparents of Amber
Skye and Charlie Amick, ML II
Greenfield, IN, brother of Deborah
Kappel, MPS IIIA
Sarah Costlow
John Kappel
Iuka, MS, adult with MPS VI
Syracuse, NY, brother of Deborah
Kappel, MPS IIIA
Jacqueline Friedman
Marina, CA, mother of Spencer Joseph
Friedman, MPS II
Arthur Garde III
Sunderland, MD, grandfather of
Saniyah Lanae Pumphrey, MPS IVA
Jeff Lewis
Grover Beach, CA, uncle of Katerina,
MPS IIIB
Lawrenceville, GA, parents of Lance
Maddox Timmons, MPS II
Consernetta Rawlings-Guy
Virginia Beach, VA, grandmother of
Saniyah Lanae Pumphrey, MPS IVA
Cheryl Richardson
Concord, NC, aunt of Molly Jackson,
MPS I
Ashley Riggs
Minot, ND, mother of Landon and
Blake Stack, MPS IIIA
Abigail Rivera
Springfield, MA, mother of
Juan Elio Santiago, MPS II
Tammy Strickland
Ann, Hannah and Grace Tate
Houston, TX, great aunts of Jackson
Dunn-Kraus, MPS II
Erin Ward
Staffordsville, KY, mother of Paul Ward,
MPS II
Heidi Williams
Chester Springs, PA, mother of
Josie Williams, MPS I
51
donations
fundraiser held by the Efird family
Hats On Day for MPS held by Lincoln
Elementary in honor of Gavin and
Wyatt Jones
Johnson poker tournament, held by
the Johnson family in honor of
Dorian and Wynn Johnson
Kanney family concert and raffle held
by Dan and Natalie Kanney
Kruse BBQ hosted by Carl and Debbie
Kruse in honor of Cooper Tippett
Rachel Longston’s 15th birthday
fundraiser hosted by Andrea
Longston
McNeil Purple Lemonade Stand
hosted by Breanne and Mark
Melikan in honor of Oliver and
Waverly McNeil
Milz T-shirt fundraiser held in honor of
Miles Young
MPS Bunco Bash & Shopping Bonanza
Old National Bank Jeans Friday held
by Loretta Spriestersbach in honor
of Kassi Offenbacker and her family
Reamer MPS Awareness Day bracelet
sale held by Cassandra Reamer
and Shapers Aveda Lifestyle Salon
in honor of Austin Reamer
Mucopolysaccharidoses (MPS) and related diseases are genetic lysosomal storage
diseases caused by the body’s inability to produce specific enzymes.
52
classifications
S Y N D R O ME
SYN DROME
EPONYM
EPON YM
Hurler, Scheie, Hurler-Scheie
Morquio A
E N Z Y M E D E F IC I EN C Y
EN Z YME DEFICIENCY
a-L-Iduronidase
Galactose 6-sulfatase
S Y N D R O ME
SYN DROME
EPONYM
EPON YM
Hunter
Morquio B
E N Z Y M E D E F IC I EN C Y
EN Z YME DEFICIENCY
Iduronate sulfatase
b Galactosidase
S Y N D R O ME
SYN DROME
EPONYM
EPON YM
Sanfilippo A
Maroteaux-Lamy
E N Z Y M E D E F IC I EN C Y
EN Z YME DEFICIENCY
Heparan N-sulfatase
N-Acetylgalactosamine 4-sulfatase
(arylsulfatase B)
MPS I
MPS II
MPS IIIA
MPS IVA
MPS IVB
MPS VI
S Y N D R O ME
MPS IIIB
EPONYM
Sanfilippo B
SYN DROME
MPS VII
EPON YM
E N Z Y M E D E F IC I EN C Y
Sly
a-N-Acetylglucosaminidase
EN Z YME DEFICIENCY
b-Glucuronidase
S Y N D R O ME
MPS IIIC
EPONYM
Sanfilippo C
SYN DROME
MPS IX
EN Z YME DEFICIENCY
E N Z Y M E D E F IC I EN C Y
Hyaluronidase
Acetyl CoA: a-glycosaminide
acetyltransferase
SYN DROME
S Y N D R O ME
MPS IIID
EPONYM
Sanfilippo D
E N Z Y M E D E F IC I EN C Y
N-Acetylglucosamine
6-sulfatase
ML II/III
EPON YM
I-Cell, Pseudo-Hurler polydystrophy
EN Z YME DEFICIENCY
N-acetylglucosamine-1phosphotransferase
Normally, the body uses enzymes to
break down and recycle materials
in cells. In individuals with MPS
and related diseases, the missing
or insufficient enzyme prevents
the proper recycling process,
resulting in the storage of materials
in virtually every cell of the body.
As a result, cells do not perform
properly and may cause progressive
damage throughout the body,
including the heart, bones, joints,
respiratory system and central
nervous system. While the disease
may not be apparent at birth, signs
and symptoms develop with age as
more cells become damaged by the
accumulation of cell materials. r
BOARD OF
directors
Steve Holland, P R ESI DEN T
Amy Holland
4908 Barbara Road
River Oaks, TX 76114
817.625.6999
[email protected]
[email protected]
MPS I H-S parents
Stephanie Bozarth, VI C E
PRESI DEN T
Tom Gniazdowski, T REASU RER
Anne Gniazdowski
315 Meadowview Court
Springboro, OH 45066
937.748.8809
[email protected]
[email protected]
MPS II parents
Kim Whitecotton, SEC RETARY
1413 Emigrant Way
Modesto, CA 95358
209.544.2708
[email protected]
MPS II parent
Jeff Bardsley
1209 Daviswood Drive
McLean, VA 22102
703.547.7087
[email protected]
MPS II adult
Erica Blight
12288 Crabapple St.
Broomfield, CO 80020
720.890.5135
[email protected]
MPS II mom
Dawn Checrallah
58 Leroy Drive
Riverside, RI 02915
401.639.2689
[email protected]
MPS I parent
920 Edgemoor Road
Cherry Hill, NJ 08034
856.795.4528
[email protected]
MPS II parent
7604 Sherry Creek Road
Worden, IL 62097
618.888.2204
[email protected]
MPS II parent
Amber Mongan
6203 Larstan Drive
Alexandria, VA 22312
703.256.1980
[email protected]
MPS IV parent
Carrie Dunn
Kristine Klenke
5330 Saratoga St.
Eugene, OR 97405
509.475.6453
[email protected]
MPS I parent
Austin Noll
9805 Fallen Leaf Drive
Middleton, WI 53562
608.203.6086
[email protected]
MPS III parent
MaryEllen Pendleton
56 E. Vinedo Lane
Tempe, AZ 85284
480.831.2157
[email protected]
MPS III aunt
Lisa and Jerry Todd
11111 Jordan NE
Albuquerque, NM 87122
505.797.3603
[email protected]
[email protected]
MPS II parents
S TA F F
EXECUTIVE DIRECTOR
Barbara Wedehase
[email protected]
DEVELOPMENT DIRECTOR
Terri Klein
[email protected]
PROGRA M DIRECTOR
Laurie Turner
[email protected]
TECHNICA L A ND DEVELOP M E N T
S UPPORT
Kelly Rose
[email protected]
CONTROLLER
Angela Guajardo
[email protected]
A DMINIS TRATIVE A S S ISTAN T
Trisha Ryan
[email protected]
SCIENTIFIC
ADVISORY BOARD
Alessandra D’Azzo, Ph.D.
Lorne A. Clarke, M.D.
Robert Desnick, M.D., Ph.D.
Patti Dickson, M.D.
Gordon Wingate
Matthew Ellinwood, D.V.M., Ph.D.
16319 Jordyn Lake
Tomball, TX 77377
832.498.1724
[email protected]
MPS III parent
Mark Haskins, Ph.D., V.M.D.
Roy Zeighami
Beth A. Pletcher, M.D.
6420 Diamond Drive
McKinney, TX 75070
972.965.5253
[email protected]
MPS III parent
Kathy Ponder, M.D.
John Hopwood, Ph.D.
William G. Mackenzie, M.D.
Joseph Muenzer, M.D., Ph.D.
Elizabeth Neufeld, Ph.D.
Mark Sands, Ph.D.
Edward Schuchman, Ph.D.
Calogera Simonaro, Ph.D.
William Sly, M.D.
PRESI DENT EMERITA
Charles H. Vite, D.V.M., Ph.D.
Marie Capobianco
Ernie Dummann
Steve Holland
Mary Majure Couture
Linda K. Shine
Steven Walkley, D.V.M., Ph.D.
David Wenger, Ph.D.
Chester Whitley, M.D., Ph.D.
John H. Wolfe, V.M.D., Ph.D.
National MPS Society
PO Box 14686
Durham, NC 27709-4686
NON-PROFIT ORG.
U.S. POSTAGE
PAID
CHAPEL HILL, NC
PERMIT #74