Suggested Reading Summer 2012

courage
Summer 2012
05
Text to Give
Society launches
new mobile
fundraising tool
22
32
Facebook art
contest showcases
MPS talent
Many new
resources added
to facilitate living
with MPS
Express
for MPS
Helping
Hand
34
Host a
Regional
Social
Event!
Bringing MPS
families together
is easier than ever
Volume 36 | No. 2
35
Suggested
Reading
Two authors
release books of
inspiration, hope
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
issue
Summer
s u b mi s s i o n c u t of f dat e
April 1
issue
Fall
s u b mi s s i o n c u t of f dat e
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
T A B LE 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 Fundraising News
08 Family News
14 Making Headlines
15 Upcoming Events
16 A Warm Welcome
17 Remembering Our Children
18 Legislative Update
22 Facebook Self Expression Artwork Contest
24 Standing Ovation
26 Combined Federal Campaign
27 Research News
32 Resources and Helpful Information
41Donations
42 New Members
44Classifications
45 Board of Directors
01
O N T H E C O V ER
Morgan McDermott
(MPS III)
Jay, Deanna, Kyle,
Anna Claire and Koby
(ML II) Walker
Matthew Montano
(MPS II)
MI S S I O N S T A TEMENT
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 F R O M T H E
02
president
i hope everyone’s summer has started out well. I recall summers being such a special time around the
Holland house when the kids exuded excitement at the break in routine from attending school. Now that the kids
are older and out of school, summers don’t seem quite as magical. My advice is to hang on to that feeling and relish
it as long as possible.
in San Diego. It has become such
an important meeting for linking
researchers, pharmaceutical
companies and patient support
groups. The research presentations
were outstanding with some very
encouraging results in new areas of
research that may very well lead to
new treatments for our kids.
In May, I returned to Washington,
DC, to represent MPS I families
specifically and the Society in
general in advocating to add MPS I
to the newborn screening panels
in each state. The Society’s MPS I
application was a long time coming
and timed to result in the maximum
chance of success. It reminded me
so much of when MPS I was the
first enzyme replacement therapy
to be brought before the FDA
for approval. In a similar manner
as the roll call vote by the FDA
advisory panel back in 2003, it was
exhilarating to hear each member
of the committee vote yes to move
MPS I to the next and final step
of evidentiary review where a
final vote will be taken whether to
recommend that MPS I be added
to the newborn screening process.
The stakes were high because failure
to meet this first step for MPS I may
have spelled doom for the other
MPS syndromes that are sure to
follow.
In March, I had the pleasure of
joining with other members of the
Society’s legislative team to meet
with numerous senate offices to
advocate the Society’s legislative
agenda. See discussions about this
effort by Stephanie Bozarth and
Nick Boyce in the legislative section
of this issue of Courage.
While our next issue of Courage
will document and illustrate how
many of you honored International
MPS Awareness Day, I couldn’t
stop myself from jumping the
gun just a little. Honoring MPS
Awareness Day each year has
become a big deal in the Holland
house. Weeks ahead of time we
I’ve been busy this past spring
with travel related to my kids’
participation in medical trials and
on National MPS Society business.
In February, I had the privilege of
attending the WORLD meeting
all start discussing what we are
going to do that year. Depending
on our travel schedule, it may be
something big or something very
small. But just as they say when
receiving gifts, it is the thought
that counts. Amy and the girls use
social media to make sure all of
their friends are aware of it, and
often their friends go out of their
way to let us know they are thinking
of us on that day—from notes of
encouragement to the delivery
of purple flowers or just wearing
purple. Last year MPS Awareness
Day was on a Sunday and we were
quite surprised when we walked into
the auditorium at church and saw
a couple of hundred people who
had incorporated various shades of
purple into the Sunday best they
wore for the day—men, women
and children alike! If you didn’t do
anything special this year, I hope
you will consider doing so next year.
Lastly, I am sorry to announce
that Dave and Hope Madsen have
resigned from their board service.
Dave and Hope are strong and
productive workers in the MPS
cause and we regret losing them as
board members, but hope they can
rejoin the board at some point in
the future. r
Steve Holland
LETTER F R O M T H E
executive director
The annual world
conference was held in San
Diego this year, and Steve and I
represented the Society at not just
the scientific sessions, but the many
ancillary meetings. I’ve served on
the Lysosomal Disease Network’s
(LDN) Advisory Committee since
its inception and was very interested
to hear the update of research
being conducted during their
investigators’ National Institutes
of Health Rare Disease Clinical
Network meeting. The Council of
Patient Advocates also met over
a lunch to discuss support of the
LDN. Genzyme hosted a dinner
for patient organization leaders,
and BioMarin hosted a networking
dinner. Kirsten Harkins, Christine
Lavery (chief executives from the
Canadian and U.K. MPS Societies)
and I met with Shire to discuss
projects in their pipeline. The world
meeting also is an opportunity to
bring together members of our
Scientific Advisory Board and gain
their perspective of our research
funding program.
I was one of six invited attendees
from international MPS, Fabry
and Gaucher organizations at
the “Access to Medicine” advisory
meeting in London, hosted by
Shire in March. I represented our
International MPS Network as we
discussed humanitarian access to
medicines. This meeting will be
expanded and presented in June
during our International MPS
Network meeting, prior to the
International MPS Symposium in
the Netherlands. The International
MPS Network meets yearly and
discusses topics such as availability
Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children voted unanimously
May 17, 2012, to move the MPS I nomination to evidence-based review. The goal is that MPS I will be
added to the panel of diseases screened in the newborn period. Pictured: Amy Holland, Steve Holland,
Maddie Holland, Laynie Holland, Barbara Wedehase, Stephanie Bozarth, Dr. Joan Keutzer.
and access to treatments, funding
issues, clinical trials, research and
collaboration. We are the group that
determines the site for future MPS
symposiums. The 2014 symposium
will be in Brazil, and we will vote
in June on the site for the 2016
symposium.
Rare Disease Day was celebrated
this year on Feb. 29. Some of our
members celebrated by joining
with the EveryLife Foundation in
Washington, DC. Roy Zeighami
wrote about the visit in our
legislative section (see page 20).
I was asked to join BioMarin’s
celebration in Novato, CA. It
was a great opportunity to thank
their employees for 10 years of
supporting our 5k walk/runs and
to hear from the clinical team at
Oakland Children’s Hospital about
all the exciting work of Dr. Harmatz
and his team. Read about this
special day on page 10.
Laurie and I had a wonderful
opportunity to spend a day at
Greenwood Genetics Center in
Greenwood, SC, with Drs. Tim
Wood and Laura Pollard and their
staff. We saw the quality control
measures that follow samples
through the lab and had hands-on
experience with urine GAG and
a-L-iduronidase testing. Dr. Pollard
directed us through the labyrinth
of programs they search when a
mutation is identified to determine
if it’s deleterious or a polymorphism.
Experiencing the testing will help
us better explain the process when
people call us with questions.
With the conferences in Boston
coming very soon, we have been
busy ensuring they will be the
best ever. Our Scientific Advisory
Board grant review committee is
reviewing proposals received for the
grants we’re offering, and we’ll be
announcing those in July. It’s not
too early to think about running for
your board of directors—we’ll be
sending nomination information in
July. You have so much to offer our
amazing organization! r
Barbara Wedehase
03
LETTER F R O M T H E d e v e l o p m e n t d i r e c t o r
04
in the joy of raising awareness and
money for research. This program
is embraced by runners nationwide
and we are thrilled that families
unable to attend a walk/run in
person can still make a difference.
Fundraising is in full
swing for 2012! We are gearing
up for the family conference
in Boston, and the Fundraising
Committee has been preparing
presentations to help fundraising
hosts utilize technology to make
the most of their events.
The Society has launched the
Text to GIVE program, and you
can now donate $10 simply by
texting CUREMPS to 80888! We
also are beginning a pilot program
called Donor Pages. This program
will allow families to share their
individual stories on our Web site,
and will provide a link for friends
and family, creating a source
of giving to help fund Society
programs. Donor Pages will be
unveiled at our 2012 conference.
This year marks the fourth year
for the Sponsor A Child For
A Cure program. Last year 30
children, young adults and families
participated, raising more than
$25,000. We hope this year more
families will be able to participate
Keep up to date by visiting the
National MPS Society’s Facebook
page or follow us on Twitter! For
more information about Planned
Giving, Sponsor A Child For A
Cure or any other fundraising
programs, please contact me at
[email protected]. Happy
summer everyone! r
Terri Klein
LETTER F R O M T H E p r o g r a m d i r e c t o r
Program, which is designed to help
families in a short-term financial
crisis with expenses such as car
repairs, utility bills, bereavement
expenses and rent. Other FSC
programs continue to be in
demand; please contact me with
any questions.
The Family Support
Committee (FSC) has been
very busy. They have awarded 25
Continuing Education Scholarships
to individuals with MPS and their
siblings. A record number of
applications were submitted this
year, and there was not enough
money available to fund all
applicants. However we would like
to thank everyone for applying and
please remember to apply again
next year. The Society is proud to
be able to help our membership
with these college scholarships.
families in attending what promises
to be an amazing, informational
and educational conference. We
hope to see you and your family
in Boston. It is a fantastic time to
re-energize and catch up with your
extended MPS family.
In addition, the Family Conference
Scholarship Program will assist
We have helped five families
through our new Emergency Relief
We love to hear and share news and
photos with everyone—remember
to submit photos of your family for
Courage. r
Laurie Turner
fundraising news
Text to GIVE – CUREMPS
W ay s t o G i v e
The National MPS Society has launched a new tool for fundraising through
Mobile Causes. It is easy and the awareness and funds raised will be
tremendous!
Text CUREMPS to 80888 on your mobile phone and you will automatically
donate $10 to the National MPS Society.
Text to Give is our mobile giving tool that will give the Society $10 for each
text. Text to Give donations are billed directly to cell phone bills of each
unique donor.
This powerful fundraising tool is
designed to help with fundraising
campaigns, for individual convenience
and for social media outreach. A
corresponding iPhone application
also is available. Help us spread
the word and let us win in the fight
against MPS and related diseases.
For more information contact
Terri Klein, development director, at
919.806.0101 or [email protected].
•R
enew your membership or
sponsor another family
• Gifts in honor of a special person
•G
ifts in memory of a special
person
•M
atching gifts through your
employer (check with your
human resource office)
1. R
equest a matching gift form
from your employer
2. C
omplete the employee section
of the form
3. M
ail to the Society and we’ll
do the rest
•C
ontribute through the
Combined Federal Campaign if
you are employed by the federal
government—CFC #10943
•D
esignate 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)
• Annual Fund donation
4th Annual Sponsor A Child For A Cure
2012 – Don’t Get Left Behind!
If your family has wanted to participate in a walk/run event to raise
money for research but aren’t able to attend an event, we have created
that opportunity. Sponsor A Child For A Cure reaches out to families and
members of the Society who want to sponsor an affected loved one or an
angel and help find cures for MPS and related diseases.
Walk/runs across the country will be participating in this program.
Event coordinators are ready for your calls.
continued >>
•M
ajor gift (usually 10 times that
of your Annual Fund gift)
• Planned gift
1. Bequest in your will
2. C
haritable remainder trust or
charitable gift annuity
3. Charitable lead trust
4. Life insurance policy
5. G
ift of appreciated assets
(stocks, mutual funds and
bonds)
•G
ifts may be applied to the
Society’s general operating
purposes or restricted to one
of our designated programs.
CONTACT: [email protected]
or 877.MPS.1001
05
Fundraising Committee:
fundraising
06
Ernie Dummann
Anne Gniazdowski
Tom Gniazdowski
Steve Holland
Larry Kirch
Terri Klein
Austin Noll
MaryEllen Pendleton, chair
Kelly Rose
Lisa Todd
Laurie Turner
Barbara Wedehase
>>
All you need to do is:
• submit a photo of your loved one to the race you wish to participate
• include the name of your child and address
• get sponsorship and send donations to the National MPS Society
In turn, the event will:
• assign a runner to participate on behalf of your loved one
• send you a courage medallion and photo with your assigned participant
• publish your participation and the money raised in an upcoming issue
of Courage
Sponsor A Child For A Cure has raised more than $35,000 in the last three
years. We are very excited to have your family be part of the team. Contact
Angela Guajardo for more information at [email protected] or
919.806.0101.
Dancing to Find a Cure
On March 24, 2012, my family and I hosted a family-friendly event, Dancing
with Dominic in Fairfax, VA. I was diagnosed with MPS II in October 2011.
I love music and dancing so within just days of my diagnosis, my mommy,
Jeanette Espinola, thought of the idea of a dinner/dance event to help
raise awareness.
Dominic (MPS II), Freddy, Jeanette and
Jasmine Henriquez
Dancing with Dominic started off as a small event. However, the response
from the community was amazing and the event size grew. A local musician
who plays monthly at my day care donated a kid’s concert and the Kenah
Shriner’s Klown Unit donated the clowns. My sister, Jasmine, is a Girl
Scout and several Girl Scout troops in the area volunteered to help with
decorations, face painting and arts/crafts. Little by little donations started
coming in. Two of my most memorable donations were from a bake sale
that my mommy’s co-workers held that raised $270.65, and a lemonade
stand operated by a 12-year old boy that raised about $20.
Thanks to all the community support, Dancing with Dominic was a huge
success and included many fun activities such as raffles, clowns, face
painting, arts and crafts, a kid’s concert, and of course music and dancing.
I had lots of fun dancing and also had a chance to show off my DJing skills!
For more event pictures and videos of me (aka DJ Monchy), please visit
www.dancingwithdominic.webs.com.
About 150 people attended the event, including MPS families from
Virginia, Maryland and Pennsylvania. The event raised about $15,000 for
the Society for MPS research, and for family support programs. Stay tuned
for information about Dancing with Dominic 2013!
Dominic Henriquez (MPS II)
Dominic Henriquez (MPS II, age 2)
Jumping In
Getting involved with the MPS Society’s board of directors
My board term began in January 2012 and I currently am a member of
the Fundraising Committee. The reality of non-profit organizations is that
resources must be obtained to achieve the mission of the organization and
the Society is no different. Being a part of the Fundraising Committee,
which directly facilitates that process, is very exciting and empowering for
me. Our board and committee meetings provide firsthand knowledge of
the front battle lines and inner workings of the Society to help achieve
our mission of supporting families and individuals affected by MPS and
related diseases and funding research for treatments and cures. Having this
knowledge makes me a better mother and caregiver to my son, and also
allows me to share that knowledge and insight with other families in the
MPS community. The board also provides a special comradery amongst a
group of people who really understand the day-to-day struggles we all face
with MPS in our lives.
One of the things we all know about MPS and related diseases is that there
are a lot of things out of our control. For me, being a part of the board
allows me to give back in a way that I can control and to assist in continuing
our march forward and fight for a cure.
Lisa Todd (parent of Jack Todd, MPS II, age 9)
National MPS Society Earns 4-Star Rating
The National MPS Society has received
four out of a possible four stars from Charity
Navigator, America’s premier charity
evaluator. The four-star rating indicates that
the Society adheres to good governance and
other best practices that minimize the chance of unethical activities and
consistently executes its mission in a fiscally responsible way. Approximately
one quarter of the charities evaluated by Charity Navigator have received
the four-star, or highest rating, indicating that the National MPS Society
outperforms most other charities in America. This exceptional designation
differentiates the Society from its peers and demonstrates to the public it is
worthy of their trust.
•D
on’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.
•C
heck out the fundraising
section on the Web site for more
information or to post your event.
•F
or free MPS Society brochures
and donor envelopes, or to
submit information for the Web
site or Courage, send an e-mail to
Terri Klein at [email protected].
Keep in mind—the Annual 5K
Walk/Run and the Annual Fund
are great ways to raise money for
the National MPS Society.
co r r e c t i o n s
The following generous donors
were missed in our 2011 Annual
Fund publication list in the spring
issue of Courage.
Thank you to the following donors:
Stephanie and Austin Bozarth,
Philanthropist
Elizabeth Karas, Leader
Gary and Carol Moss, Donor
Austin and Cheryl Noll, Philanthropist
Joel Bloom and Jody Shapiro,
Patron
Kim and Tom Whitecotton,
Philanthropist
Corrected Giving Category:
Mike, Lisa, Maria, Molly, Sarah,
Johnny and Gracie Day, Friend
Tara and Jack Elston, Volunteer
Janet Forde, Volunteer
Jack and Lynn Griffin, Friend
Brian and Kristine Klenke, Friend
Ralph and Bonnie Rennaker, Friend
Ellis and Jeanette Taylor, Friend
07
fundraising
When my son Jack was diagnosed in July 2011 with MPS II, I was grateful to
have the opportunity to attend the annual conference in St. Louis within a
few weeks. Everything was new and overwhelming and the last thing I was
thinking about was joining the MPS Society’s board of directors. At the
conference, I attended the annual meeting and I learned more about the
inner workings of the Society. What was clear to me was that being a board
member was a priceless opportunity. As a new MPS parent, I was eager to
dive right in and help in any way possible. I felt that up to the point of my
son’s diagnosis, all of my professional and community service experiences
was God’s way of preparing me for doing something that meant more to me
than anything—fighting for my son’s life. So, I decided to run for the board.
Fundraising
Reminders
family news
08
I don’t remember the day
or the moment when Zach was
diagnosed. I guess I was just too
little to realize and understand
the importance of that day, but I
will never forget three little letters
followed by one number—they
seem to in some way define my
life: MPS II. What is that? Well
let me tell you, it’s a rare disease
that is killing my little brother. Its
name is Mucopolysaccharidosis II
or Hunter syndrome, and I have
known all too much about it since
I was about 5 years old.
Brandon, Zach (MPS II) and Josh Townsley
What I do remember is this: When
I was about 5 years old and in the
car coming home from preschool,
I asked my mom why Zach couldn’t
talk like me and he was 3. I, in my
5-year-old mind, felt that he should
be talking by now. My mom tried
to explain what was happening
with Zach, and even though I
understood that he was sick, I did
not understand how sick he really
was. In time I have come to know
and understand all too clearly what
this disease means.
Zach used to be able to speak, play
and act pretty much like a normal
kid. Now though, he is wheelchairbound, has a tracheotomy, eats
through a g-tube and has to use a
ventilator to breathe at night. You
see, MPS II is a progressive disease.
Kids who have it seem almost
normal when very young, but as
they get older the disease gets
much worse. There are treatments
for some of its symptoms, but there
is no cure.
MPS II is an x-linked chromosomal
disease. This means it is carried by
the mother and can only be passed
on to her sons. Any male children
that a woman who is a carrier of
Hunter syndrome gives birth to
have a 50 percent chance of having
the disease. Any daughters would
have a 50 percent chance of being a
carrier. My mother has three sons—
me, Zach and our younger brother
Brandon. Only Zach has MPS II. My
mother’s grandmother had a son
who died from the disease 50 years
ago, only until Zach’s diagnosis
was made through DNA, the family
believed he had a different disease
called Hurler’s syndrome. My
parents were tested to see if they
were carriers of Hurler’s syndrome
before I was born, however now
we know they were tested for the
wrong disease.
When he was 6 years old, a
treatment became available for kids
with MPS II called Elaprase®. It is
given as an IV infusion. For five
years, Zach went to Joe DiMaggio
Children’s Hospital once a week
for four hours to have the infusions
done. Unfortunately Elaprase can
only provide a partial treatment,
and it cannot help with damage
to the brain and central nervous
system.
Zach was able to walk up until he
was about 9 years old, but he was
never really good at it. One thing
continued >>
>>
When he was 9, Zach underwent
spinal fusion surgery to correct
a bad curvature in his spine. He
hasn’t been able to walk unassisted
since then. He had to spend
months in a cast and a back brace
in order to protect the area where
his spine was fused together.
About the same time Zach started
having what are called sympathetic
nervous storms. These look like
seizures, but last a longer time.
Some of them lasted hours. When
he has these storms, Zach would
shake uncontrollably, sweat and
become overheated. They are
terrible to watch.
When he was 10, Zach suffered a
collapse of his airway. He almost
died twice before doctors were
able to insert tubes in his throat
to get him air. Because his airway
was so bad, doctors had to insert a
tracheotomy tube that he will need
to have for the rest of his life. Once
he got that tube put in his throat,
Zach refused to eat and had to get
a g-tube put in his stomach so that
he can be fed.
When he came home from the
hospital, Zach brought new
members of our family with him—
nurses! Lots and lots of nurses.
We have had many come and go
over the past couple of years. Now
Zach has two nurses who care for
him, Serge and Mike. One of them
is with him seven days a week,
16 hours a day! They have become
an extended part of our family
and I couldn’t imagine our life
without them.
As I have gotten older I have
learned many things. I have
learned medical techniques such
as how to suction a tracheotomy
tube, how to use an ambu-bag to
breathe for someone, how to use a
feed pump, and how infusions are
performed.
I also have learned acceptance of
those who are different. By having
Zach as my brother, I have learned
that people who are different are
special in their own way. I have
learned patience, because I can
see that sometimes having to take
care of my brother is more vital
at the moment than dealing with
whatever my wants are.
09
Dan Hinton (MPS II) with his mother
Carolyn Keeney
Sydney Vanhook (MPS I)
Most importantly, I have learned
from Zach that having a disabled
brother can change your life, and it
can make you a better person. r
Josh Townsley
(Josh’s personal narrative about Zach
was sent to the District Literary Fair
competition.)
Shannon Tootill (MPS III)
Michelle Hopkins (MPS I) recently was honored at the Long Beach School
District’s Most Inspiring Students Awards Dinner. Her teacher and the
school’s administration nominated Michelle for this honor to represent
Kettering Elementary School. Chosen students have shown persistence,
drive and dedication. Many have overcome significant adversity.
Michelle is very excited about this award. We are obviously very proud of
her. Those of you who know Michelle know she has a great attitude toward
life. Way to go, Michelle!
Scott and Lynn Hopkins
Michelle Hopkins (MPS I)
family news
he was good at was falling. Because
of that we always had to keep an eye
on Zach to make sure he was safe.
Even though we tried to prevent it,
Zach still managed to end up with
a good collection of bumps and
bruises.
BioMarin Celebrates Rare Disease Day
Although Rare Disease Day 2012
was Feb. 29, celebrations were held
throughout that week and the next.
Roy Zeighami wrote about his
participation in Washington, DC,
with the Rare Disease Legislative
Advocates in the legislative
section on page 20. BioMarin
Pharmaceutical celebrated Rare
Disease Day on March 6, 2012, and
showed its continued support of
the Global Genes Project (led by
Children’s Rare Disease Network),
once again by supporting the “Jean
Replacement Therapy” program,
where employees raised funds for
our key patient advocacy groups
by donating their old jeans in
exchange for a raffle ticket for a
chance to win gift cards for new
jeans. More than 100 pairs of jeans
were donated and more than
$500 was raised.
family news
10
Alena Galan (MPS VI)
The employee turnout was
significant, and they invited the
BioMarin board of directors; Paul
Harmatz, MD; some of the medical
staff from the Children’s Hospital
Oakland; and many of the MPS VI
and Pompe disease patients and
their families. Barbara Wedehase
also was invited and thanked
BioMarin for their support over
the years, including 10 years of
hosting a walk/run. The money
raised by BioMarin employees and
supporters during those 10 years
accounts for almost 10 percent of
all the walk/run money raised
during that period, all of which
is allocated to research.
Of the many special guests in
attendance was Alena Galan, 14,
who has MPS VI. Alena impressed
everyone with a speech she recited
as well as two songs she sang.
“Today, we are celebrating Rare
Disease Day,” said Alena. “My
mother says I am a rare gem.
My story is one of luck, love, hope
and gratefulness. I began my life
in a cold and barren place in
Krasnoryorsk, Siberia, Russia, 14
years ago. At age 1 1/2, I became a
ward of the orphanage there. They
said I was a healthy child.
“I first laid eyes on my mother,
Marcia Galan, when I was 3 years
old. It was love at first sight. I always
knew in my heart that she would
come and get me. I came to my
new home in America in November
2001. It was the best day of my life.
If I only knew then how much it
would mean to be here now. We
understand now that if I were to
have stayed in that orphanage, I
would not be standing before you
today. So I have a reason and a
purpose for being here. I believe
I have a guardian angel. Life is my
celebration. Life is a special
occasion!
“On my first day home in Briarcliff
Manor in New York, my mother
made an appointment with a
pediatrician, Dr. Aronson who
specialized in Russian adoptees.
I had a stuffy nose, weakness in my
legs, was not able to sit up straight,
and/or lift my arms straight in the
air, some bacterial infections, and a
heart murmur was detected. I was
very petite as well, but, I am told
was quite adorable! We were given
a referral to a pediatric heart
specialist, Dr. Fish. My mother
thought nothing of this. She
thought that lots of kids have heart
murmurs, and that everything else
was due to malnutrition and being
in an orphanage. Many children
continued >>
>>
who are adopted are small in size,
but catch up over time.
“Between 2002 and 2003 I had
several operations that saved me
from any further damage. I had a
shunt, a hernia operation and then
a repair of it, tubes in my ears, and
my tonsils and adenoids removed.
I had occupational and physical
therapy in school while mastering
the English language.
“Finally, in 2005, after I missed
being in the enzyme replacement
trials twice (once because I was not
impaired enough and once because
I was not old enough), my day of
celebration came in August 2005.
I was the first in the Northeast to
receive my special gift—Naglazyme®
at Montefiore Hospital. The first
year, I miraculously grew five inches.
“I have a great life. My ambition is
to be a doctor and to continue to
sing professionally. Life is a special
occasion!”
11
family news
“What I am about to tell you is how
I know I have a guardian angel:
Dr. Fish saw me and recognized
something. He had treated another
family with a child diagnosed with
MPS. NOW THAT IS RARE!
Dr. Aronson called my mother
and suggested she take me to see
a geneticist because she thought I
may have some syndrome. We made
an appointment with Dr. Marion.
Seven weeks after I came home, on
that fateful cold day, Jan. 24, 2002,
I was given a sentence of not life
but a slow death. But guess what?
There were trials that were soon to
be beginning for enzyme replacement
for my missing enzyme. We found
out I had MPS VI, also known as
Maroteaux Lamy, and help was
on the way and there was hope.
Dr. Marion, my mother always says,
not only saved my life but hers.
“It is 10 years later and I am here. I
am strong. I can lift my arms above
my head, stand up straight, I don’t
have a stuffy nose or colds very
often, I can breathe perfectly, I
am firm on my feet, I have no
infections, I hear perfectly, see well
and no more heart murmur. I even
rock climb! I am here to celebrate
life—my life because of five little
vials called Naglazyme. I am here
today to speak for all those who
have been blessed by BioMarin with
Naglazyme and hope with ongoing
research for others who are so in
need of other enzyme replacements,
that they too may soon have a
brighter and healthier future. I
am here today as an example of
translational medicine that made it
possible to engineer and replicate
what my body doesn’t. I am all the
reason for research…I am a
biogenetical success thanks to you,
BioMarin. In addition, with the
support of the National MPS
Society, great strides have been
made to help those who are
surviving MPS. The Society has
continued to fight to have our
disease recognized and for more
research to be done to find cures
for all of us.
Adam Podesky (MPS I) on his first
communion day.
Morgan McDermott (MPS III)
Alena concluded, “I want to thank
the person who has been the most
special to me in my life…my mama.
She is my true guardian angel. She
is the one who makes it possible for
me to shine, to have hope and
faith, and also how to shop! Love
you mama. I am your healthy girl!”
(l. to r.) Ethan Sowden (MPS III), Tyler
Sowden (MPS III), Levi Ormeroid (MPS III)
and Lucas Valdez (MPS III) enjoyed a play
date in New Berlin, WI, during spring break.
In life God has a plan for every person he puts on earth. I believe one of
the plans he had for my little cousin, Brooke Weddell, was to touch my
heart. I was only 7 when little Brooke was born with Mucolipidosis and
did not quite understand at the time why God would make a young child
face such a rough life. As I grew older and spent lots of time with Brooke
I realized what a special little girl she was. Every time I was around her she
made me smile and stop and think how blessed I was. There are often days
I think about this little angel and wonder, if her life was not cut so short
how many other people would she have made an impact on? I would love
to spread awareness about this disease and help to someday find a cure so
I can save someone else’s favorite cousin.
family news
12
Olivia Martin
Brooke Weddell (ML II)
1/9/02–10/17/05
I recently submitted an entry for the Rare Children’s Storybook Project
(www.myrarestory.com) for MarbleRoad (www.marbleroad.org) to promote
awareness for Rare Disease Day 2012. Our Different Vacation is a children’s
book I wrote about what is supposed to be our family’s vacation but is not
what you would expect. My little brother, Elliot, has MPS I. My brother is
different, but I love him just the same. To see my video further explaining
my story, go to www.youtube.com/user/ilovehimjustthesame?email=share_
video_user.
Makenzie Matheson
Arion (MPS II) is a very happy, energetic 6 year old in the 1st grade, who
is usually on the move. He enjoys bike riding, balls, movies and playing
with his dog. Arion is a very big tease and loves to travel. He loves being
with his brothers, sister, nephew, nieces and grandparents. Arion is a man
of many hats; he enjoys wearing all kinds. Arion was diagnosed with MPS II
when he was 2 1/2 years old. He began Elaprase infusion July 2011 and
is doing very well.
Arion can light up any place with his smile. No matter what life has thrown
at him, he keeps smiling.
Arion Batton (MPS II)
Jody and Mark Batton
Kelly and Jake Hubert, parents of Livia (MPS III), recently were featured
on their church Web site as part of its life group series. To watch their
testimony, go to http://rockfordfirst.com/saintsandsinners/watch and
click on Week 2.
February used to be MPS awareness month. Recently that has been changed
to May. However this past February I had a unique opportunity to increase
awareness of MPS within a college setting.
13
family news
I was invited to speak at the chapel service at Houghton College in
Houghton, NY. The dean of the chapel asked me to address the obsession
our culture has with beauty and perfection. I preached from Psalm 139
where David writes of how God had a plan for David’s life even before he
was born. For example, in Psalm 139 we find these words:
Psalm 139:14—“I praise you because I am fearfully and wonderfully made; your
works are wonderful, I know that full well.”
15—“My frame was not hidden from you when I was made in the secret place. When
I was woven together in the depths of the earth,
Wayne Eppehimer (MPS II) spoke at
Houghton College, NY.
16—“your eyes saw my unformed body. All the days ordained for me were written in
your book before one of them came to be.”
Being a person with MPS II, I am certainly not a candidate for being a
poster boy for success in the eyes of many within our culture. But that is
okay because our culture’s measuring stick is not necessarily valid. I shared
with the students that since we are created in God’s image, God has a plan
for our life, even as He did for David. That being true, all of us are special
regardless of our abilities or so-called disabilities. I intermingled into the
sermon some of my personal story of having the opportunity to travel to
numerous nations around the world, and having been elected to two terms
to the highest executive body of our denomination, and having served as
the senior pastor of two churches during the past 32 years. In the midst of
sharing these examples of “successes” I also was able to give some insight
into MPS disease.
There were more than 800 students in attendance that day. We ran out
of the MPS flyers that were sent to me by the National MPS Society. The
dean of the chapel said he would make additional copies available for any
student who wanted one but didn’t get one. He thought that perhaps the
pre-med students would be particularly interested in it. Several students
lined up to talk with me after the service. It was an enjoyable experience.
Wayne Eppehimer (MPS II)
Denise and Bob Crompton,
parents of Kelley Crompton,
ML III (1963–2009), met
with Dr. Sara Cathey at
the Charleston Greenwood
Genetic Clinic in April.
Dr. Cathey conducted
the natural history study
for the Mucolipidosis
population in which
Kelley participated. The
Cromptons have been
members of the National
MPS Society for 32 years.
Koby Walker with
his 1st grade
citizenship award
and his teacher
Mrs. Berry.
14
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!
making headlines
Wish comes true for young NASCAR fan
with rare disease
An excerpt from an article featured on
www.wfaa.com, Dallas/Fort Worth,
April 13, 2012. Written by Marcus
Moore. To read the complete article, go
to www.wfaa.com/news/local/NorthTexas-child-with-rare-disease-meetsNASCAR-147402915.html.
Walking down souvenir alley at Texas Motor Speedway, 9-year-old Luke
Chambers looks like he’s on top of the world.
“It’s a big thing to him,” said Luke’s dad Chet Chambers. “He’s a kid who’s
been through a lot; NASCAR means a lot to him.”
He lives with a rare disease called Mucopolysaccharidosis I, or MPS I. It’s
genetic and attacks the body and can lead to organ damage. But, you
certainly wouldn’t know his daily struggle, especially on this day when Luke
met a real-life race car driver.
How Committed is Big Pharma to Rare Diseases?
Melissa Hogan, mother of Case (MPS II), was featured in a Forbes magazine article addressing the recent interest of
large corporations in rare disease drug research, and how this will impact the families of those affected.
“We want to know, especially from [large companies] that some might see as interlopers seeking to bleed the last
of high profits from a new area, now that there are more common drugs going generic that entry into this area is
not a fleeting thought of profits,” said Melissa. “We want to know that if the research is more difficult, that if the
science takes longer, if the competition gets heavier, that you are committed. We want to see understanding that
commitment is not just offering us a product, it is helping to make our children’s lives better, a product being just
part of that effort. Because it’s not commitment to us, it is commitment to our children.”
To read the complete story, go to www.forbes.com/sites/johnlamattina/2012/05/02/how-committed-is-big-pharmato-rare-diseases.
Dr. Klane White, orthopedic surgeon and father of Susannah (MPS I, 1999–2008), is on a mission to understand—
and spread awareness—about the debilitating diseases that cause painful spine and hip deformities in children
who suffer from them. His research is translating experiences from clinical outcomes into treatments that improve
kids’ lives. To read Dr. White’s article, “Translating Research About Spine and Hip Deformities to Improve the Lives
of the Kids Who Live with Them” that was recently published in Seattle Children’s Research Institute’s Interaction
research newsletter, go to www.seattlechildrens.org/research/interaction and click on the March 2012 PDF.
upcoming events
National MPS Society 2012 Conferences
Family Conference—July 26–28, 2012
CYCLE (Celebrating Your Child’s Life Cycle)—July 29, 2012
SPIRIT (Strength, Purpose, Independence, Resilience and Initiative Together)—July 28–29, 2012
The 26th Annual National MPS Society Family Conference will be held July 26–28, 2012, in Boston, MA. The
Boston Park Plaza Hotel & Towers is located in the heart of historic Back Bay and is one of Boston’s most
recognized and renowned landmarks. Rich in history, The Boston Park Plaza has distinguished itself with classic
elegance and personalized service that continues to attract travelers from all over the world who visit Boston for
business, leisure or special events. The hotel is located three miles from Logan International Airport and only
200 yards from the nation’s first public parks, Boston Common & the Public Garden. The hotel is easily accessible
to shopping along world renowned Newbury Street, Faneuil Hall Marketplace, the theatre and financial districts
and most historic landmarks. This conference promises to offer all the updates on research, medical care and
other topics that you’ve requested.
Following the family conference are the specialty conferences held every two years: SPIRIT for adults with MPS and
related diseases, and CYCLE for bereaved families. Both conferences are held at The Boston Park Plaza; attendees
of these conferences are welcome to also attend the family conference.
Registration and scholarship information for all three conferences have been mailed. Information can also be
found on our Web site.
12th International Symposium on MPS and Related Diseases
June 28–July 1, 2012
Noordwijkerhout, The Netherlands
By bringing patients, parents and families together with professionals, this international symposium will share
information on all aspects of MPS and related diseases. The overall objective is to advance the quality of care and
treatment. As well as musculoskeletal disease and MPS, the brain and MPS, and new approaches to treatment, the
main topics of the symposium will be pricing and reimbursement. All will be covered in joint sessions attended by
doctors, scientists, patients and patients’ families. Separately, doctors and scientists also will attend more detailed
sessions on the central nervous system, bone disease and novel approaches to treatment.
Families will not only have opportunities to meet peers from other countries, but will be able to attend sessions on
optimizing care, dealing with clinical issues and surgery in MPS, and “living fully with MPS.”
The symposium will be held at the four-star NH Leeuwenhorst conference center in Noordwijkerhout, which
is approximately 20 minutes from Amsterdam Schiphol airport and 30 minutes from the city of Amsterdam.
Noordwijkerhout lies very near to a coast with long sandy beaches, and various major cities and sites of interest are
within easy reach. Special activities will be organized for young patients and their siblings, who will be accompanied
by trained volunteers.
To register to attend the conference or for more information, visit www.mps2012.eu.
15
16
A Warm Welcome introduces new Society members/families and offers members yet
another chance to connect with one another. If you have a moment, please contact the
new family or member to say hello and welcome them into our MPS family. If you have been
a member for a longer period of time, but would like to introduce your family to the rest of
the Society, please e-mail Laurie Turner at [email protected].
a warm welcome
The National MPS Society welcomes the Snow family from
Salt Lake City, UT.
My name is Amber and I am a single mother of an amazing little boy named
Matthew who is 3 years old. I work full time for a non-profit organization
that helps the elderly, disabled and low-income families called Community
Action Program.
Matthew was born Sept. 30, 2008. He was a healthy 9 lb. 2 oz., 21 inch little
miracle. As someone who has been told since a young age that she would
never be able to have children, he was just that, my miracle.
The first two years of Matthew’s life he was a happy, healthy little boy,
with the exception of many ear infections. As time went by I started to get
worried about his development, especially the fact that he was showing no
signs of talking and would not respond when I talked to him.
Amber Snow and Matthew Montano (MPS II)
My mother suggested I have his hearing tested, so I took him to an ENT
and, as suspected, he could not pass the hearing test. The doctor figured it
was due to the many ear infections he had had. He suggested we put tubes
in. So we put in the tubes and retested and he passed.
I was still worried about him being behind in development so I started
researching my options. I learned that I could start him on an individual
education plan (IEP) in a special education class. At the time he was about
two months away from turning 3. He had to be 3 to start the testing and get
into the class through the school district. The day he turned 3 I called the
district and started the ball rolling. After some testing and a few meetings
he started a class.
A few weeks after he started his IEP I received a call from Matthew’s
teacher. She asked if I had ever considered having Matthew tested for any
genetic issues. Of course it had never occurred to me, why would it? She
said she saw some different physical characteristics in him and thought it
would be a good idea. To this day I cannot thank her enough. I did not do
it right away, whether it was from fear or denial I am not sure. But she was
persistent. She kept asking me if I had thought more about it. So I made
the appointment.
continued >>
>>
Our first appointment was with child development specialists. After testing
all of his skills and examining him they left us in a room while they went
out and talked. When they came back they sat me down and informed me
that Matthew had the verbal skills of an 18 month old and the motor skills
of a 2 year old. They also told me they thought he had a form of a genetic
disease called MPS, but I would have to have him tested for sure. They
informed me that they would be in contact with me about the appointment
but it would probably take a few months before I got in to see a genetics
doctor. As we were leaving there happened to be one of the genetics
doctors walking by. That doctor got down on Matthew’s level and took one
look at him and turned to me and asked me if I had time to get some X-rays
done. So off to the hospital we went. We were contacted the next day with
an appointment to see a geneticist in one week.
17
a warm welcome
After an examination and many questions later the geneticist informed me
that he was sure Matthew had MPS. The only question was which type.
On Feb. 9, 2012, Matthew was diagnosed with MPS II. That day my life
changed forever.
Matthew had his first enzyme replacement therapy on Feb. 12, 2012. Since
then our life has been a whirlwind of doctors, tests and procedures.
I am blessed to have an amazing family and friends who are a great support
system. I am also grateful for the people I have met through MPS, especially
those who answer my never-ending questions!
Matthew Montano (MPS II)
It has only been three months since Matthew’s diagnosis. While I am still
trying to understand and accept all of this and what is to come, I also
want to make sure that Matthew has as many experiences, wonderful
memories and all the love I can possibly give him in his lifetime. In the
end I have to believe that Matthew was given to me for a reason, as I to
him. He is my miracle.
REMEM B ERING
our children
Joshua Downing
33, MPS III, 5/16/12
Tony Owen
Rachel Swink
24, MPS III, 3/22/11
Chase Veliz
34, MPS II, 5/22/12
20, MPS II, 3/31/12
Nicholas Sprowles
Megan Weisenbach
18, MPS III, 4/16/12
12, MPS III, 5/25/12
summer 2012 #59
18
legislative update
r
Thanks to the support and dedication
from longtime friend and Society
supporter Sen. Lindsey Graham (R-SC)
and his great staff, Senate Resolution
450 passed, designating May 15, 2012,
as National MPS Awareness Day!
We thank Society members who wrote
letters and sent e-mails to generate
this success.
r
Legislative Committee:
Stephanie Bozarth, chair
Amy Barkley
Jeff Bardsley
Dawn Checrallah
Ernie Dummann
Steve Holland
Terri Klein
MaryEllen Pendleton
Kelly Rose
Laurie Turner
Kim Whitecotton
Roy Zeighami
Barbara Wedehase
The past several months have been a whirlwind of advocacy
opportunities for the National MPS Society and all our members. I hope
you have had a chance to jump in and make that leap into becoming an
advocate for yourself, your loved one, and/or for the Society in general.
I also hope you have caught the advocacy bug! Warning: It can be
contagious. Once you start communicating with your representatives and
building relationships, you soon realize that YOU can make a difference,
they will listen, and it can be incredibly empowering. As we move our
advocacy efforts forward, it continues to be critically important to build
and cultivate relationships with our decision makers in both the House
and Senate. We must grow our list of Senate and House champions to
move our mission forward of funding research, spreading awareness, and
creating an environment where regulations aren’t deterring research
interest. Your House representative or senator could be one of our greatest
champions who makes all the difference. From a legislator’s point of view,
the most influential advocates are their very own constituents (voters).
I can advocate on your behalf but what they really want is to hear from
someone living in their state or district. It all starts with telling your story
and building that relationship so that you can bring more attention to the
needs of our children and adults living and suffering with MPS and related
diseases. I hope I can guide you forward into becoming an advocate and
provide you with the information that is relevant to our Society.
Two ways to get a running start is to join the Society’s Policy with Partners
to be included in all e-mails and action alerts, and secondly to take our
NEW online advocacy Webinar (available in the Members Only section of
our Web site) to learn how to influence your lawmakers by visiting them
in your home state. We will guide you and provide all the information you
need to be a powerful voice! r
Sincerely,
Stephanie Bozarth
Chair, Committee of Federal Legislation
Policy with Partners: Five Minutes of Your Time to Take Action!
Current Legislative Priorities
and Action Items:
• Ask Your Congressman to Join
the Rare Disease Caucus
With the caucus now introduced in
the 112th Congress, we need your
help to drive membership. The
caucus will help to further educate
our legislators about the special
needs of our MPS community and
other rare disease communities
with similar issues. This is where
we start our search for advocacy
champions who can greatly
influence legislation important to
us. You will be able to determine if
your congressman is in the caucus
at www.rarediseaseadvocates.org.
• H.R. 4132, Faster Access to
Specialized Treatments Act
(FAST Act)
The FAST Act will modernize and
expand the U.S. Food and Drug
Administration’s accelerated
approval pathway to encompass a
broader range of diseases and
leverage 21st century drug
development tools and strategies.
This reform will speed the approval
• H.R. 3059, Support the Creating
Hope Act S.606
The Creating Hope Act provides
private market incentives for
development of drugs for pediatric
rare diseases through the extension
of the priority review voucher
program to children with rare
diseases. The Creating Hope Act
is cost neutral—it does not require
any appropriation. Take action at
www.rarediseaseadvocates.org.
Current News:
MPS Society Advocates on the Hill
March 12–14: MPS Society
members Steve Holland
(president/MPS I parent),
Stephanie Bozarth (vice president/
MPS IV parent), Jeff Bardsley
(board member/MPS II affected),
Dawn Checrallah (board member/
MPS I parent), Nick Boyce (MPS I
affected) and Amy Bardsley (MPS II
parent) were at the Capitol
advocating for the Society’s
legislative priorities on behalf
of all members. In three days,
these Society members had
21 appointments representing
18 states. They were well received
and found the legislative staff very
attentive and supportive of the
Society’s priorities. The following
requests were made of the senators:
• insertion of the MPS-related
language into the 2013
Appropriations Bill;
• s igning on as a co-sponsor of the
National MPS Awareness Day
Resolution; and
• support for TREAT and FAST
Lifespan Respite Coalition Update
Thank you to everyone who helped
secure Senate signors to the FY 2013
Senate appropriations request for
Lifespan Respite funding. Seven
senators signed on in a three-day
turnaround! The final letter can be
found on the National Respite
Coalition Web site.
National Center for Advancing
Translational Sciences (NCATS) Is
Focus of Congressional Hearing
“Despite phenomenal progress in
basic science, we still lack effective
treatments for far too many
diseases, and this translational
pipeline to get there is long, 14
years on the average, and it’s leaky,”
said National Institutes of Health
(NIH) Director Dr. Francis Collins
during congressional testimony
on March 20. Both Collins and
NCATS Acting Director Dr. Thomas
Insel testified on the president’s
FY 2013 budget request before the
U.S. House of Representatives
Appropriations Subcommittee on
Labor, Health and Human Services,
Education, and Related Agencies,
chaired by Rep. Denny Rehberg
(R-MT).
The hearing focused on both the
NIH and NCATS budgets, and
featured panel discussions about
the many opportunities that exist
for NCATS to work in synergy with
private industry to improve the
translation process. Collins also
restated NIH’s commitment to
fund basic biomedical research as
its highest priority. Insel showcased
continued >>
19
legislative update
The Legislative Committee reviews
and tracks legislation important
to our community which we then
forward to Policy with Partners
(PwP). When you sign up for PwP,
you will be included in all action
alerts and e-mails. On occasion,
depending on importance, some
legislative action alerts will go to
all members. PwP is a program set
up to pinpoint a core of Society
members who we can count on to
advocate when called upon. If you
want to be a PwP member, please
sign up on our Web site or call the
main office.
of much-needed therapies and
cures to patients who are facing
serious and life-threatening
conditions, including Alzheimer’s
disease, autoimmune diseases,
multiple sclerosis, Parkinson’s
disease and hundreds of rare
diseases that remain untreated.
Take action at www.rarediseaseadvocates.org.
>>
legislative update
20
NIH’s Clinical and Translational
Science Awards program, saying
“80 percent of [the NCATS] budget
is the CTSA program” and that
in the next five years, the goal
is to increase “engagement of
communities, not only as a source
of patient volunteers, or research
volunteers, but increasingly to get
them in at the front end to help
define what the research problems
need to be, and to bring them in as
a full partner.” Insel emphasized,
too, that fixing the pipeline is “what
NCATS is all about…figuring new
ways to develop compounds and
new ways to develop diagnostics.”
Visit the NCATS new Web site at
www.ncats.nih.gov to learn about
the center’s latest news and events,
innovative research initiatives
and programs, areas of focus,
and current opportunities for
collaboration.
Advocacy Personal Stories
Rare Disease Day 2012
by
Did You
Know?
Michael J. Astrue,
commissioner of Social
Security, added 52 new
Compassionate Allowance
conditions to the list, one
of which is I-Cell (ML II).
MPS I, MPS II and MPS III
had previously been added
to the list of Compassionate
Allowance conditions. The
Compassionate Allowance
program allows patients
with certain diseases to
receive disability decisions
within days rather than
months or years. The new
conditions will become
effective August 2012.
Roy Zeighami
On Feb. 29, International Rare Disease Day, I participated in the first
lobby day in Washington, DC, coordinated by the Rare Disease Legislative
Advocates (RDLA). Parents of children with MPS diseases and other rare
diseases were represented. The EveryLife foundation offered $500 travel
grants to help defray the cost of travel. Short meetings were scheduled
by the EveryLife foundation throughout the day with the Congressional
senior staff and sometimes with a member of Congress themselves. The
families spent a few short minutes in the meetings sharing their story
and then made their “ask,” support for a specific bill. Beginner advocates
were paired with seasoned advocates and were informed about bills that
were in consideration prior to their meetings. It was amazing to watch the
transformation that happened as newcomers gained confidence and an
understanding of the importance of what they are accomplishing.
Only we, as patient advocates, can share OUR story and describe what WE
want—from NIH funding for research, to statues that affect how drugs
are approved and clinical trials are run, to direct support and services for
families. Without your voice, your elected representative can only guess
what is important to you. While there is much, perhaps justified, cynicism
around politics, one thing holds true—politicians want to be re-elected. By
showing that we are motivated to meet with our representatives, we send a
strong message: We are not going away and will be heard.
Over this next year, I encourage you to build a relationship with your
representative. Find out who your representative is and visit their district
office near your home. The National MPS Society has information available
at www.mpssociety.org/news/legislative to help you set up appointments
and craft your talking points. Remember, you are extremely powerful. Your
story is compelling and your child’s story deserves to be told.
Hopefully, there will be many more RDLA lobby days. Even if you can’t
make it to Washington, you can have an impact. Visit your representative’s
district office, sign up on their Web page for alerts, and go to their town
hall meetings. There is so much policy work to be done and it all starts with
your relationship with your representatives.
continued >>
>>
My Visit to Capitol Hill
by
Nick Boyce (MPS I)
In March of 2012, I had the opportunity to visit Capitol Hill. Part of my
visit consisted of meeting with the offices of the U.S. Senate. In the past,
my mom has always been an advocate for me, so it was a very rewarding
experience as an adult to speak on a political level on my own behalf and
the behalf of MPS children who are unable to speak for themselves.
21
legislative update
It was nice to be able to share my personal experiences with those on the
Hill. Most of whom I met with were not aware of what MPS was and how it
affects everyday life.
During my visit, I also had the opportunity to meet in person my senators
from Rhode Island, Sen. Sheldon Whitehouse and Sen. Jack Reed. I
attribute this opportunity to my mom who had previously attended a town
hall meeting in my hometown. Meeting them in Washington, essentially
serving as a follow-up meeting after having already heard my story and the
challenges I’m faced with every day, allowed them to put a face with my
name and MPS.
If given the opportunity to participate in another visit, I would definitely
take the trip. Every voice heard only moves us closer to making a better
future for all children and adults living with MPS.
The Lewis family, whose daughter, Madison, has MPS III, was invited to visit
with Sen. Kay Hagan (D-NC) at UNC Health on May 1 in support of her
efforts of the TREAT Act, which accelerates the review and approval process
for medicines that treat an unmet medical need or significantly advance the
standard of care for people suffering from deadly diseases.
“It was a wonderful experience for our family and one that will hopefully
have a positive impact,” said the Lewises. “Our objective was to impress
that while the rare diseases our MPS families deal with are far less common
than some of the more prevalent overall societal diseases, they are no
less devastating to our families and children who have to endure them.
Streamlining the FDA approval process to allow faster access to beneficial
treatments will provide additional hope and support to all our loved ones.”
(l. to r.) Wayne Lewis,
Dr. Art Aylsworth, Sen. Kay
Hagan, Dr. Joseph Muenzer,
Morgan Lewis, Paige Lewis
and Madison Lewis (MPS III)
Nick Boyce (MPS I)
F ac e boo k S e l f E x p r e ss i o n
22
artwork contest
International MPS Awareness Day is held each year on May 15. This day is an opportunity to:
• acknowledge all the children and adults who suffer from MPS and related diseases;
• remember the children we have lost;
• be grateful for the doctors and scientists who are dedicated to finding a cure for MPS and related diseases; and
• appreciate each other and the strength and support we both give and receive.
Thanks to everyone who participated in the Facebook Self Expression Artwork Contest. All of the entries submitted
were wonderful!
The Winners Were:
Dressed to Impress
1st place:
Tucker iPad
Lanier
11, MPS 2
and 2013 New Year’s Card
Tucker Lanier, 11, MPS II
“Dressed to Impress”
2nd place:
$100 Visa gift card
Allison Restemayer, 11, MPS I
MPeaceS
Allison
Restemayer 11, MPS 1
“MPeaceS”
3rd place:
$50 Visa gift card
The Road Ahead
Jenna Watson, 13, MPS I
Jenna Watson 13, MPS 1
“The Road Ahead”
Andrew Cochenour 14, MPS 2
New Year Wish
Jill Underwood 23, MPS I
Additional Entries:
Cherries
Shannon Tootill 18, MPS III
Andrew Cochenour, 14, MPS II
“Happy Feet”
Jill Underwood, 23, MPS I
“New Year Wish”
Shannon Tootill, 18, MPS III
“Cherries”
23
artwork contest
Hope in the form of a rainbow
Lucas Montgomery 14, MPS 3
Lucas Montgomery, 14, MPS III
“Hope in the Form of a Rainbow”
Paige Halk, 14, MPS I
“Courage Is the Heart of
Every MPS Child”
"Courage is the Heart of every MPS child"
Paige Halk 14, MPS 1
Spring
Jennifer Underwood 25, MPS 1
Jennifer Underwood, 25, MPS I
“Spring”
MPS Day
Sean Rutherford 3, MPS 1
Sean Rutherford, 3, MPS I
“MPS Day”
Hands of Courage
Danny Miller 15, MPS 2
The Kite
Sasha Segal 13, MPS 3A
Sasha Segal, 13, MPS III
“The Kite”
Danny Miller, 15, MPS II
“Hands of Courage”
MPS
Julie Lintt 41, MPS 4A
Julie Lintt, 41, MPS IV
“MPS”
24
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: Luke Chambers, MPS I
I am 9 years old and I live on a farm in Scurry, TX. The best part about
living on a farm is getting to help out, picking items, riding my Ford Raptor
truck and getting it stuck. I love to play with my cars and I love cats. I like
to wear any shirt that has cars, trucks or Angry Birds on it. My favorite
colors are blue, orange and yellow. I like to watch Tom & Jerry and Lego
TV shows. My favorite movie is Cars 2. I love to eat super tacos, flat tacos
and pizza. I love NASCAR racing, Monster Truck Jam and any other type of
racing—I love the crashes and pit crews. When I grow up I want to be on a
pit crew as the tire guy. Some of the most exciting things I have been able
to do were to spend the night in a condo at Texas Motor Speedway where I
met NASCAR driver Austin Dillon, and go to the Monster Jam World Finals
in Las Vegas. The best part of having MPS is seeing the flashing billboards
about MPS in our town on MPS Awareness Day. The worst part of having
MPS is wearing purple. If you asked me who saved us, I will tell you Jesus.
Davis Barkley, MPS II
I am 16 years old and was diagnosed with MPS II at age 8. I live in
Louisville, KY, and I am a sophomore in high school. Living with MPS is
obviously not easy; all of the doctors’ appointments, surgeries, and hospital
visits can get very tiring and depressing. But, I feel like the most important
thing in dealing with those challenges is having a positive attitude. Once
that is accomplished, life really does get better. It is a lot easier to handle
disappointing situations and deal with tough issues. Staying positive is the
main reason I am able to function at a fairly normal level. It gives me a
good outlook on life and helps me cope with all of my unfortunate issues.
I try to rule out my condition when trying to accomplish anything, I really
don’t like that being deciding factor in doing things I want to do. I really
enjoy running, so last fall I decided I was going to run a half marathon. I
trained hard and accomplished my goal—it was an excellent feeling. I ran
my second half marathon in April, and convinced my mother to run with
me. I also enjoy riding bikes, watching movies, traveling, playing basketball
and swimming. I try to live life by normal standards as much as possible. It
isn’t easy living with MPS, but with a positive attitude and a good mindset,
it certainly makes it easier.
Caleb Mulder, MPS III
Caleb is 6 years old and is a funny and active little boy. He loves to play
games, especially Guess Who?, Monopoly Junior and Uno. He plays soccer
and T-ball and loves them both. His favorite classes in school are gym and
music. He loves to sing and is constantly dancing around serenading the
family with his own renditions of Katy Perry’s “Firework” and Journey’s
“Don’t Stop Believin,’” His favorite TV show currently is Ninjago and he
continued >>
>>
loves to watch Spy Kids movies. He has a sharp sense of humor and is always
cracking us up.
Willow Hoff, MPS IV
I am 4 years old and just graduated from preschool. I was given an award
for being the most creative. I love to paint, do art and make up my own
songs. I have been in dance for two years and like to perform for people.
My favorite movies are The Muppet’s, Seven Brides for Seven Brothers and
Molly: An American Girl on the Home Front. I also like to watch I Love Lucy,
she makes me laugh. My favorite foods are spaghetti and brownies. I like
spending time with my mom and dad and little sister—we do fun things like
go to the zoo and circus. I like to help in the flower and veggie gardens. My
favorite doll is my American Bitty baby named Angel. She goes with me to
all my doctor appointments and even had surgery with me. I like having tea
parties with my friends and playing with my cousins. I don’t like blueberries
and get scared during thunderstorms. I go swimming a lot in the summer.
Autumn Mortensen, MPS VI
I am 18 years old and plan to attend college next fall to discover what path
to take in life. I’m a known chocoholic and a Dr. Pepper addict. I love my
cats, especially when they are excited and running about rampantly. I’m an
avid reader of fantasy novels and movies. One of my favorite series was the
Harry Potter books by J.K. Rowling. I’ve always loved reading, but Rowling’s
books really opened my eyes to the world’s unending possibilities. Every
new book is a new friend. Movie-wise I have a taste for a little of everything.
Chick flicks, drama, fantasy, you name it. Except for real horror films, no
thanks! Lately I’ve been watching Glee, a show about teens dealing with
normal high school drama. I really like how it handles problems of the real
world, especially being a teen in a wheelchair. And their renditions of songs
like “Pure Imagination” and “Teenage Dream” are so beautiful.
Koby Walker, ML
Koby is 6 years old and lives in Magee, MS. He was diagnosed at age 1 with
ML II/I-Cell. At age 15 months, a bone marrow transplant was performed
in the hope of saving his life. His sister was his donor and the transplant
was a success. The transplant stopped the accumulation of cells in his
organs, but did not stop the damage the disease causes to his bones and
joints. He receives physical therapy weekly to help with the stiffness of
joints and muscles. Although life isn’t always easy for Koby, he lives each
day to the fullest. Everyone who meets Koby immediately falls in love with
him, especially his love for life and his contagious smile. Even though his
physical restrictions don’t allow him to play sports, he absolutely loves
football and baseball. He enjoys watching games and cheering on his
favorite teams. He just completed the 1st grade. Koby attends Goodwater
Baptist church where he enjoys going to Sunday school and taking up the
offering during worship service. Koby also enjoys showing pigs in his local
4-H. He recently won overall showmanship with his pig, Hershel. Koby
has a twin brother, Kyle, and a 10-year-old sister, Anna Claire. He loves his
brother and sister and enjoys playing with them. To read more about Koby
and his life you can follow him at www.caringbridge.org/kobywalker.
25
standing ovation
Caleb was diagnosed with MPS III last summer after we learned that his
older brother, Jarod, has it. He is doing remarkably well and is, amazingly,
finishing a great year of kindergarten and moving on to first grade. He’s
reading at a C level, has a huge list of sight words, does well sounding
new words out and is good at math. He loves to play make believe with his
friends and it usually involves Star Wars characters and light sabers.
26
G i v i n g t h r o u g h t h e C o m b i n e d F e d e r a l C a m pa i g n
The National MPS Society has been approved once again
for the 2012 Combined Federal Campaign (CFC)! If you
work within a federal, state or local government agency, you
can designate the National MPS Society as the recipient of
your payroll giving program or one-time gift. The Society is a
participant in the Combined Federal Campaign, listed as
#10943 in the CFC brochure.
My husband is in the Air Force. They were asked if they would like to make
a donation in an amount per paycheck toward a charity. They found the
National MPS Society in the CFC list and his entire ship put the Society
as their designated charity! A $700 donation was received from an airman
who lives in the dorms; I was just amazed that he would donate that for our
family. There also was a $1,200 donation! I would really like to thank every
one of these generous Air Force members who gave to the CFC in honor
of our daughter Amelia (MPS III). I think it says a lot about the men and
women who serve our country with my husband and it made our family feel
wonderful!
Willow Rice and daughter Amelia (MPS III)
research news
Observational Prospective Natural History
Study of Patients with MPS III B
Shire HGT announced in January 2012 that they will sponsor a natural
history study for individuals with MPS III B. The objective of this study is
to evaluate the natural, unaltered disease progression of MPS III B; the
study has been designed similarly to an interventional clinical trial. This is
a longitudinal, prospective, observational, natural history study to identify
endpoints that may be used for future enzyme replacement therapy trials
via standardized clinical biochemical, neurocognitive, developmental,
behavioral and imagining measures. Shire expects the results of this study
to provide key disease insights, similar to what would be measured in an
untreated control group in an interventional clinical trial.
The study is being conducted at the University of Minnesota. For
additional information, contact Brenda Diethelm-Okita at 612.625.1594 or
[email protected]. Complete information about this study is available at
www.clinicaltrials.gov/ct2/show/NCT01509768?term=MPS+IIIB&rank=1.
Clinical Trials
MPS I
MPS I Intrathecal Enzyme Replacement Clinical Trial
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 (ERT) for
cognitive decline in patients with MPS I.
The purpose of this research study is to find out whether giving ERT 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 the 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. You or your
child must:
• be 6 years of age or older
• be diagnosed with MPS I
• s how evidence of cognitive decline on a screening evaluation
continued >>
27
MPS IV A Clinical
Assessment
Program (MorCAP)
The MorCAP has been designed
to provide a better clinical
understanding of the natural
history of MPS IV A (Morquio A)
syndrome by measuring various
aspects of the disorder, including
endurance and respiratory function
in affected patients. These insights
may help BioMarin Pharmaceutical
Inc. design future clinical studies.
Participation in the MorCAP study
will require one or more visits yearly
to a clinic or hospital for up to 10
years. Experimental drug will not
be administered during these visits.
MorCAP is a multinational study
and includes sites located in the
United States, United Kingdom,
South America, Canada, Europe
and Asia. For more information,
call toll-free 1.866.961.8212.
>>
research news
28
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);
• physical examinations (general and neurological);
• neuropsychological testing for cognitive decline and
an MRI of the brain; and
• reimbursement/payment of travel expenses.
Additional details about this clinical trial can
be found at www.clinicaltrials.gov; search under
“mucopolysaccharidosis.”
If you are interested in this study or would like more
information, contact:
Dr. Agnes Chen
310.222.4160 / 310.782.2999 (fax) / [email protected]
or
Dr. Patricia Dickson
310.781.1399 / 310.782.2999 (fax) / [email protected]
MPS I Intrathecal ERT for Children Being
Considered for Transplantation
The University of Minnesota recently has 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 MPS I 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.
Patients with MPS I 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. 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.
The principal investigator of the study is Dr. Paul
Orchard, who can be reached at 612.626.2961 or
by e-mail at [email protected]. Alternatively,
Teresa Kivisto, nurse coordinator with this study,
can be reached at 612.273.2924 or by e-mail at
[email protected].
MPS II
MPS II Intrathecal Enzyme Replacement
Clinical Trial
Shire Human Genetic Therapies is sponsoring a clinical
trial at the University of North Carolina at Chapel Hill
to learn if direct administration of recombinant enzyme
into the fluid around the brain and spinal cord is safe
and a possible treatment for children with MPS II with
developmental delays. The principal investigator for
the clinical trial “A phase I/II safety and ascending
dose ranging study of idursulfase administration via an
intrathecal drug delivery device in pediatric patients
with MPS II who demonstrate evidence of central
nervous system involvement and who are receiving
treatment with Elapraise” is Dr. Joseph Muenzer.
Currently there is no approved therapy for treating
the brain and spinal cord in patients with the severe
form of MPS II. The goal of this study is to give a new
preparation of iduronate-2-sulfatase (idursulfase-IT)
directly into the fluid surrounding the brain and spinal
cord (intrathecal administration). The new form of
iduronate-2-sulfatase has not been used before in
patients with MPS II and is considered investigational.
It has not been approved by the FDA or any other
regulatory agency.
This phase I/II clinical trial is planning to enroll
16 patients with MPS II between the ages of 3 to 8 years
with evidence of early neurocognitive decline using an
open-label, three-dose trial design. This clinical trial
will initially have both a treatment group (12 study
patients) and a control group (four study patients) with
the control group eligible to receive intrathecal enzyme
after a six-month observational period. Monthly
intrathecal administration of idursulfase-IT will be
given using a Port-A-Cath® II Low Profile™ intrathecal
implantable access system manufactured by Smiths
Medical MD, Inc. (St. Paul, MN) that requires surgical
implantation.
To be eligible for the investigational intrathecal enzyme
replacement clinical trial, study patients need to have
some developmental delay, but can not be severely
impaired, have received and tolerated a minimum of
six months of weekly intravenous Elapraise and have
adequate hearing (with or without hearing aids) to
complete developmental assessments. Patients with
continued >>
>>
MPS II are not eligible if they have a shunt for the
treatment of hydrocephalus, have had a cord blood
or bone marrow transplant or have other medical
conditions that may place the individual at an increased
risk during the investigational clinical trial.
MPS III
Phase I/II Safety, Tolerability, Ascending Dose
and Dose Frequency Study of Recombinant
Human Heparan N-Sulfatase (rhHNS) Intrathecal
Administration Via an Intrathecal Drug Delivery
Device in Patients MPS III A
Shire Human Genetic Therapies (Shire HGT) is
developing a sulfamidase ERT rhHNS for patients
with MPS III A. rhHNS is being administered into
the cerebrospinal fluid via a surgically implanted
intrathecal drug delivery device (IDDD), because
when administered intravenously it does not cross
the blood brain barrier.
This study is a multi-center, multiple-dose, doseescalation study designed to evaluate the safety,
tolerability and clinical activity of up to three dose
levels (two doses [10 and 45mg] monthly and one
dose [45mg] every other week for six months) of
rhHNS administered via n IDDD in patients with
MPS III A ages greater than or equal to 3 years of age.
The study began June 2010 and is expected to be
completed March 2012. The duration of the study
for each patient is nine months.
Intracerebral Gene Therapy for MPS III A
A one-year, phase I/II gene therapy clinical trial for
MPS III A 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 MPS III A. The
treatment plan consists of a direct injection of the
investigational medicinal product SAF-301 to both sides
of the brain through six image-guided tracks, with two
deposits per track, in a single neurosurgical session.
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. Four patients will be included in the clinical
trial and will be followed during one year.
The primary investigator is Dr. Marc Tardieu,
Hôpital Bicêtre – Assistance Publique des Hôpitaux
de Paris Recruiting Le Kremlin Bicêtre, France, 94275,
+33 1 45 21 32 23, [email protected].
Additional information about the study can be found at
www.clinicaltrials.gov/ct2/show/NCT01474343?term=
MPS+IIIA&rank=4.
MPS IV
Patients who have completed all study requirements in
this study will be invited to participate in an open-label
extension study that will be designed to evaluate
long-term safety and clinical outcomes of intrathecal
administration of rhHNS.
BioMarin Pharmaceutical Inc. announced Feb. 1,
2011, that it initiated a pivotal phase III trial for
N-acetylgalactosamine 6-sulfatase (GALNS or BMN
110), intended for the treatment of MPS IV A (Morquio
A syndrome). Enrollment in this study is now complete.
The phase I/II clinical study is being conducted at two
sites: Emma Children’s Hospital, Academic Medical
Center in The Netherlands by Dr. Frits Wijberg; and
the St. Mary’s Hospital in Manchester, UK, under the
direction of Drs. Simon Jones and Ed Wraith. The
letter to the Society from Shire about the study can
be accessed on our Web site under the Clinical Trials
section.
The phase III trial is a randomized, double-blind,
placebo-controlled study to evaluate the efficacy and
safety of GALNS in patients with MPS IV A. The study
will explore doses of two mg/kg/week and two mg/kg/
every other week for a treatment period of 24 weeks.
The primary endpoint is the six-minute walk test;
secondary endpoints are the three-minute stair climb
test and urine keratan sulfate concentration.
Additional information about the clinical trial can
be obtained at http://clinicaltrials.gov/ct2/show/
NCT01155778?term=MPS+III+intrathecal&rank=1
Highlights from the phase I/II study:
•E
ndurance improvements with GALNS were
consistent with and, in some cases, better than those
observed in pivotal studies of approved ERTs.
continued >>
29
research news
For more information about the clinical trial, contact
Dr. Joseph Muenzer at 919.966.1447, or the study
coordinator, Heather Preiss, RN, at 919.843.5731.
or by contacting Tiffany Crump 484.595.8257,
[email protected] or Daryll Heron +44 1256 894572,
[email protected].
>>
research news
30
• Clinically meaningful improvements in two measures
of endurance (six-minute walk distance and threeminute stair climb) were achieved at both 24 weeks
and 36 weeks as compared to baseline.
• Clinically meaningful improvements in two measures
of pulmonary function (forced vital capacity and
maximum voluntary ventilation) were achieved at 36
weeks as compared to baseline.
• Keratan sulfate levels decreased shortly after the
initiation of treatment and fell further as the study
progressed.
• The frequency and severity of infusion reactions were
comparable to those observed with Naglazyme and
Aldurazyme.
Additional information can be found at www.bmrn.com
and http://clinicaltrials.gov/ct2/showNCT00787995?te
rm=MPS+IV&rank=1.
MPS VII
On Jan. 5, 2012, Ultragenyx Pharmaceutical, Inc.,
a biotechnology company focused on developing
treatments for rare and ultra-rare genetic disorders,
announced it has in-licensed an ERT program from
St. Louis University to treat MPS VII. The in-licensed
program is a treatment for an ultra-rare genetic,
metabolic disorder that results from the deficiency of
the beta-glucuronidase (GUS) enzyme. Also known as
Sly syndrome, the disorder was first identified in 1973
by William S. Sly, MD, a world-renowned researcher
in inherited diseases, who is currently professor and
chairman emeritus, Department of Biochemistry and
Molecular Biology, at St. Louis University School of
Medicine. Dr. Sly will collaborate with Ultragenyx on
the MPS VII development program.
“We are pleased to have the opportunity to develop this
treatment for MPS VII which has been in the research
stage for a long time and has yet to be made available to
patients,” said Emil D. Kakkis, MD, PhD, chief executive
officer of Ultragenyx. “We look forward to working in
collaboration with Dr. Sly and the MPS community on
this program.”
Dr. Sly noted, “After so many years of research by my
laboratory and my research colleagues, I am pleased
to finally have the chance to see if MPS VII patients
can be successfully treated with enzyme replacement
therapy. I have confidence in Ultragenyx’s ability
to advance the MPS VII program through the
development process and fulfill our shared goal of
bringing this potentially life-changing therapy to
patients. We look forward to working closely with the
Ultragenyx team on this program.”
On Feb. 28, 2012, Ultragenyx announced that the
FDA office of Orphan Products Development granted
orphan drug designation for UX003 for the treatment
of MPS VII. On March 28, 2012, Ultragenyx was
granted orphan drug designation for MPS VII by the
European Medicines Agency.
ML II/III
There currently are no programs in place for
developing treatment options for ML II/III.
Treatment Therapies
MPS I
Additional information can be obtained at www.aldurazyme.com or by
contacting Genzyme at 800.745.4447.
MPS II
Elaprase® is a long-term ERT for patients with a confirmed diagnosis of
MPS II which has been approved for use in the United States, Canada and
many countries in Europe. Elaprase was developed and is produced by
Shire Human Genetic Therapies (formerly TKT), and is given as weekly
infusions to replace the missing enzyme that Hunter syndrome patients fail
to produce in sufficient quantities.
Additional information can be obtained at www.shire.com or by contacting
OnePathSM toll-free at 866.888.0660. OnePath provides assistance with
insurance, product access, treatment centers and education about Elaprase
and MPS II.
MPS VI
Naglazyme® is the ERT for individuals with a confirmed diagnosis of MPS VI
and has been approved for use in the United States and in many European
countries. Developed and produced by BioMarin Pharmaceutical, Inc.,
Naglazyme has been shown to improve walking and stair-climbing capacity.
For more information, contact BioMarin Patient and Physician Support at
866.906.6100 or [email protected].
Team Sanfilippo is working with the
Coordination of Rare Diseases at
Sanford (CoRDS) organization to
build a patient registry for MPS III
(Sanfilippo). Information obtained
through the registry would be
available for future U.S. clinical
trials, and will accelerate future
research by providing researchers
with access to an existing database
of pre-screened individuals who are
willing to participate in rare disease
research. It also will notify patients
of opportunities for clinical trials
should they be eligible.
How can I enroll?
If you or a family member have
been diagnosed with a rare genetic
disease, you are invited to submit
information to the registry. Patients
or their parent/legally authorized
representative should contact
CoRDS via e-mail at CoRDS@
sanfordhealth.org or by phone at
605.312.6413 and provide:
• name
• contact information (mailing and
e-mail address, phone number)
• preferred method of contact and
best time to contact
CoRDS personnel will contact the
individual to briefly discuss the
registry, answer questions and send
patients a consent form and a short
questionnaire.
For more information or to ask
questions about the CoRDS registry,
contact:
Liz Donohue
CoRDS administrator
2301 East 60th St. North
Sioux Falls, SD 57104-0589
phone: 605.312.6413
e-mail: [email protected]
www.sanfordresearch.org/cords
31
research news
Aldurazyme®, administered once-weekly, has been approved in the United
States and in 15 countries of the European Union for long-term enzyme
replacement therapy (ERT) in patients with a confirmed diagnosis of
MPS I, to treat the non-neurological manifestations of the disease. Aldurazyme
was developed by BioMarin and Genzyme under a joint venture agreement
that assigns commercial manufacturing responsibilities to BioMarin, and
worldwide sales and marketing responsibilities to Genzyme.
MPS III Patient
Registry
RE S O UR C E S A ND
32
helpful information
Shire announces
new co-pay
assistance program
Shire believes that costs associated
with rare disease treatments should
not be a barrier to patient access.
In 2011, Shire was able to help
patients in the United States with
their co-pay expenses and is pleased
to announce enhancements to the
program for 2012.
Shire will assist eligible patients
in the United States who have
commercial insurance with 100
percent of their 2012 Shire enzyme
replacement therapy co-pay
expenses, including co-insurance
and deductibles, regardless of
financial status.
For more information, call
OnePath®, the product support
center for Shire’s enzyme
replacement treatments,
at 1.866.888.0660 or visit
www.onepath.com.
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.
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.
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.
For more information, check out these transition resources:
• 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).
National MPS Society Web Site
The National MPS Society’s Web site, www.mpssociety.org, strengthens our
mission: support for families and research for a cure. The site’s aesthetics,
crisp presentation and easy navigation encourages frequent visits from
membership, donors, foundations and more.
Some of the interactive features of the Web site include:
• Members Only section with downloads, including the Online Directory
with filter capabilities. (Send an e-mail to [email protected] for your
Members Only password.)
• Walk/Run and Fundraising pages, including event registrations, planned
giving, Sponsor A Child For A Cure and more.
• Donor-friendly online, one-time and recurring donation capabilities.
• Store with shopping cart and internal payment processing.
• Front page video, YouTube and conference presentations.
• Daily news feed.
• Active calendar and photo galleries.
The Society is consistently working with our membership to innovate new
ways of interacting with those touched by MPS. This public interface provides
high-tech functionality and continues to send a global message that the
National MPS Society is a leader in MPS and related diseases.
HealthTalker—
A New MPS II Online Community
In October, the Hunter Parents Community, an online community sponsored
by Shire, was launched. The Web site 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 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. To join the
Hunter Parents Community, go to www.HunterPatients.com.
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 Pendant
Available!
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. The
designer of this piece has donated
his time with an MPS family to make
this available for you and your loved
ones! 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.
925 Sterling silver with rhodium
plating ($62.50, includes shipping)
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 Web site and
click “Logo” at the top, or call
919.806.0101.
33
resources and helpful information
34
NeedyMeds
Hosting a Regional Social Event
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.
A regional event is a great way for local families to meet and get to know
other MPS families. A regional event can be as simple as having a family
picnic, or elaborate as a mini conference. Hosting an event is not difficult.
It can be a matter of making a few phone calls. Just reserve a kid-friendly
and wheelchair accessible space, such as a park, church hall, local
restaurant, pavilion, beach, etc. The possibilities are endless. Next, call the
National MPS Society to help you print and mail invitations that you design.
As a host, you can decide whether or not you want everyone to pitch in
money or food, or if you want to make the arrangements and get sponsors.
Visit www.needymeds.com for
more information.
Parenting Special
Needs Free Online
Magazine
The mission of Parenting Special
Needs is to provide parents of special
needs children, of all ages and
stages of life, both information
and inspiration. Parenting Special
Needs free online magazine
provides practical tips, shares life’s
lessons, tackles the challenges and
celebrates the joys, while continually
seeking change for the better
with new and helpful information
that is simplified to fit into your
already busy schedules. A few of the
magazine’s features include: Real
Life with a Special Needs Child,
S.O.S: Siblings Offering Support,
Practical Tips, Special Needs
Planning and Caregiver Care, along
with information and resources to
help navigate your course.
Go to http://parentingspecialneeds.
org/subscribe to subscribe.
The National MPS Society can even be one of your (or your only) sponsors.
Every year, money is set aside in the budget to fund regional events (up
to $750 per event). The money can be used for location rental, entry fees,
food, speakers or other costs. It’s as easy as downloading the form from
the Web site and submitting the first page (Look under Support: Family
Support Program applications: Regional Social Events).
“When Karina was first diagnosed with MPS, we couldn’t make it to a
conference right away,” said Angela Guajardo. “Our first opportunity to
meet other MPS families was when the Hodgkins family hosted a regional
picnic at a park designed for special needs kids in Katy, TX. As a newly
diagnosed family, it was so nice to be able to spend some time with other
families that were going through similar things with their kids. It’s not
always possible to attend a conference so the next best thing is an event
in your area.”
The Guajardos enjoyed the regional event so much that the last two years
they have hosted Texas MPS Day at Morgan’s Wonderland in San Antonio.
The Guajardos applied for the Society’s grant to cover the cost of the
pavilion rental and entrance fees, however, the second year they did not
need it because of other sponsorships. With the help of family members
donating a few small gift cards, food and beverages were covered. Families
were asked to bring dessert. The next year, a large sponsorship from a local
grocery chain was obtained to cover the food. In addition, another Texas
family secured a large sponsorship from Valero that covered the cost of the
pavilion and the entry fees, with extra money left over to purchase gas and
grocery cards to give away as door prizes, and a donation to the Society.
Hosting a regional event can be as easy as throwing a party, but is so much
more important than a regular party. It’s vital for families to connect with
each other; we need the support of other families going through similar
issues. MPS is not an easy disorder to live with, but what makes it bearable is
the people we have supporting us. The National MPS Society is committed
to supporting families, which is why money is set aside every year for these
and other types of grants. Please consider hosting an event and being that
person who brings MPS families together!
Suggested Reading
The Strange Tale of Ben Beesley
by
Matthew McNeil
About the Book
Author Matt McNeil’s daughter, Waverly, just wasn’t getting the hang of
it. Toilet training had come so easily to so many of their friends, many of
them much younger than her. She was lagging behind in her speech too,
and what words she did use were difficult to understand. At first, a doctor
diagnosed her with a hearing loss, which seemed to explain so much.
But after a few months of working intensely with audiologists and speech
therapists, it became apparent that Waverly was facing something much
more serious.
By the spring of 2008, doctors at the Children’s Hospital of Philadelphia
figured out what was wrong. Waverly’s developmental delays were caused by
MPS III. The doctors advised that there were no good treatments available
for this rare disease. Still worse news was to come. A month later the
McNeils learned that Waverly’s little brother, Oliver, also had MPS III.
Stunned by the fact that he would lose both his children by the time they
were teenagers, Matt felt himself being pulled down by depression. In
the winter of 2009, he started writing as a way to put some space between
himself and his overwhelming grief. After a few years, he finished a book,
The Strange Tale of Ben Beesley. Although Ben Beesley is first and foremost
an exciting adventure story for middle grade readers (ages 9–12), it is an
outpouring of a father’s hope for his children struggling against a terminal
illness.
“I couldn’t save my kids, so I came up with a fictional hero, Ben Beesley,
and plopped him down in a similar situation,” said Matt. “I drew on our
experience with MPS to make his quest as difficult as possible, and it
was extremely cathartic to give him a fighting chance to succeed. Once I
finished, I realized the book was actually quite good and could be just what
I needed to help my kids. That’s when I decided to sell it and that every
penny raised would be donated to the National MPS Society to support
research programs.”
More information, including purchase information, is available at
www.benbeesleybook.com. The paperback edition is $14.99 and a Kindle
edition will sell for $4.99.
continued >>
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-ondisability-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.
35
resources and helpful information
Waverly and Oliver are two orphaned flies growing up, and hoping to stay
unnoticed, in a garden ruled by a cruel spider named Ramsay. But when
they risk everything to help a mysterious fly named Ben, they get bitten by
spiders with a slow-acting and deadly venom. Ben sets out to save his friends
by taking them on the long, dangerous journey across the garden to see
Ramsay, who is the only one who can reverse the effects of the poison. The
spider king, however, has no intention of helping anybody but himself.
What happens when Ben finally comes face to face with Ramsay makes his
quite a strange tale indeed.
The 411 on
Disability Disclosure:
A Workbook for
Youth with
Disabilities
Resources for
Coping with Grief
resources and helpful information
36
•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
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.
>>
Live Laugh Lemonade: A Journey of Choosing to Beat the Odds
by
Kendra Gottsleben
Kendra (MPS VI) chose to write this book not because she wanted to
become famous or make a great deal of money, but rather to share her life’s
challenges with others and to share how she stays positive with each and
every challenge.
“Many people have told me I have an amazing, upbeat attitude, even with
all the barriers I have had to overcome, and that I need to tell my story of
never giving up,” said Kendra. “In the book I talk about how I know how
difficult life can be as a child, teenager, or young adult who has a medical
condition or disability. And how if I can make an impact on even just one
person’s life, I would be honored.
“I have been tremendously fortunate that, even though I have MPS VI and
am in a wheelchair, I have been able to have a pretty normal life. I have
always tried to live my life with a positive outlook, and with the notion that
every hurdle I have to endure teaches me something about myself and what
direction I need to take in my future. I have never wanted others to pity
me for my struggles because I do not pity myself. Having pity for myself
will never help me obtain all my ambitions in life. Everyone has barriers
to conquer no matter who we are, whether we are able-bodied or not,
small or tall, young or old, rich or poor, bold or shy. I acknowledge that
we need to allow ourselves time to cry, scream and get upset with some of
those obstacles in life. But we must not dwell on them for too long because
thinking about them too much does not aid us in reaching our individual
goals and dreams. Life is full of ups and downs for us all; as long as we work
through them we will be able to accomplish something great!”
Live Laugh Lemonade: A Journey of Choosing to Beat the Odds can be purchased
at http://kenimagine.storenvy.com.
Kendra can be reached at:
Twitter: @Kegottsleben
Facebook: www.facebook.com/KendraGottsleben
Blog: http://kendrascatchykorner.blogspot.com
Fishbowl Cards Offers Unique Greeting
Cards for Special Needs
Fishbowl Cards is a unique greeting card company with the focus on
children, adults, families and friends living with special needs.
This line of greeting cards, posters and figurines reflect the celebration of
hope, recovery, improvement, achievement, love and support that children
with special needs, their families and friends experience every day.
Visit www.fishbowlcards.com/Default.aspx.
Genzyme Co-pay Assistance Program for
Enzyme Replacement Therapies
Individuals in the United States who are enrolled in the 2012 Genzyme
Co-Pay Assistance Program will receive assistance for their eligible drug
related out-of-pocket expenses such as co-pays, co-insurance and deductibles.
In order to provide support to as many people as possible, the Genzyme
Co-Pay Assistance Program is open to eligible U.S. citizens or legal residents
who have primary commercial insurance and are prescribed treatment with
one of Genzyme’s enzyme replacement therapies regardless of financial status.
In accordance with the law, the Genzyme Co-Pay Assistance Program is not
available to individuals who are residents of Massachusetts or have coverage
for prescriptions paid for in part or full under any state or federally funded
healthcare program including Medicare and Medicaid. If you are not
eligible for the program, do not wish to participate, or need help with outof-pocket expenses that are not covered by the program, call your Genzyme
case manager who can review coverage options and refer you to other
financial assistance programs that are available.
Genzyme Case Managers are available to help answer any insurance related
questions, including questions about the Co-Pay Assistance Program
and eligibility criteria. Call your Genzyme case manager directly or call
800.745.4447, Option 3.
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.
The Carol Ann Foundation has developed a video, “Living with Morquio,”
to empower parents to make better informed decisions on the quality of
their child’s health. Copies of the video have been provided to the Society
and are available to MPS IV families at no cost. Contact the office if you
would like the video, and we will mail you a copy.
www.MPSIdisease.com
A Web site 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.
MPS II Web site
www.hunterpatients.com
Shire HGT educational Web
site focuses on MPS II (Hunter
syndrome). The site is a resource
center for the MPS II community
to access information about
the genetics, diagnosis, and
management of MPS II, as
well as information about the
drug development process. In
addition, the Web site 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. Shire HGT
expects to update and expand the
site on a regular basis.
37
resources and helpful information
For more than 20 years, Genzyme has provided personalized support and
assistance to the genetic disease community. As a part of its commitment to
ensure access to treatment, it has expanded its support programs to include
the Genzyme Co-Pay Assistance Program for enzyme replacement therapies.
MPS I Web site
www.mpsforum.com
resources and helpful information
38
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. We miss
hearing from you!
MPS VI Web site
www.MPSVI.com
BioMarin’s Web site,
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.
Aldurazyme®
Web site
www.Aldurazyme.com
A Web site 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.
Youth Transition Toolkit: A Guide for Young
People with Disabilities Transitioning to
Adulthood
This toolkit is now available online from Talent Knows No Limits, a public
information campaign of the California Health Incentives Improvement
Project. Developed in partnership with young people, the toolkit is
designed as a how-to guide on preparing for transition to adulthood and
making choices about their own healthcare, education, employment,
finances, independent living, and social and recreational activities.
Questions the toolkit helps youth address include:
• What is Transition Planning?
• What is an IEP and how can I lead my IEP meeting?
• How can I manage my Social Security and medical benefits?
• How does college differ from high school?
• How can I obtain services for my disability during college?
• What resources are available to help me choose the right career?
• Is there assistive technology available that can help me secure a job?
• How can I find accessible housing to live on my own?
• What should I do to prepare for a job interview?
While some of the services and resources provided are California statespecific, much of the guidance is applicable to youth in any state. For
more information, visit www.tknlyouth.org/index.html.
Did you know there are several Family
Support Programs available to help
members of the National MPS Society?
• The Family Assistance Program can help families or affected adults purchase
durable medical goods not covered by insurance or other sources.
Families or affected adults can request up to $3,000 annually.
• The Social Gathering Program — Do you enjoy getting together with other
MPS families? You can request funds up to $750 each year from this
program to help with organizing a picnic or other social function.
• Conference Scholarship Program — MPS families or affected adults can
apply for financial assistance to attend an MPS Society family conference.
• Continuing Education Scholarship Program — Affected individuals and
their siblings, spouses and parents can apply for one of several $1,000
Continuing Education Scholarships.
• Extraordinary Experiences — A new program for individuals with MPS and
related diseases ages 14–24 to help create an extraordinary experience.
Grants of $1,000 are available.
• Medical Travel Assistance Program assists families with funding for travel
expenses incurred for long-distance medical appointments. The program
may reimburse up to $500 per affected individual, 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 at [email protected] for more information.
Parent Educational Advocacy Training
Center: Help for Families and Professionals
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.
New NAGLAZYME.com Web Site
Up and Running
The new NAGLAZYME.com is now live and available for you to visit. You
will find expanded content about MPS VI, its diagnosis and treatment with
NAGLAZYME® (galsulfase) enzyme replacement therapy. The new Web site
also has expanded features and functionality.
Apple’s Commitment to Accessibility
For more than 20 years, Apple has provided new and innovative solutions
for people with disabilities, allowing them to access­—and enjoy using—the
Mac, iPod, iPhone, iPad and Apple TV.
Apple includes assistive technology in its products as standard features—at
no additional cost. For example, iPhone, iPad, iPod and Mac OS X include
screen magnification and VoiceOver, a screen-access technology, for the
blind and visually impaired. To assist those with cognitive and learning
disabilities, every Mac includes an alternative, simplified user interface that
rewards exploration and learning. And, for those who find it difficult to use
a mouse, every Mac computer includes Mouse Keys, Slow Keys, and Sticky
Keys, which adapt the computer to the user’s needs and capabilities.
For more information about the many accessibility features built into Apple
products, go to www.apple.com/education/special-education.
Can’t afford iPad or iPod Touch for your child, school or therapy center?
Here are some suggestions to get you closer to a free iPad or iPod Touch:
• You don’t need an iPod or iTouch to open an iTunes account and begin
building a library of free (aka “lite”) and discounted apps. Apps don’t
expire after being downloaded, but special offers could. You might be
able to use your Mac or PC for movies, podcasts, music and reading.
continued >>
www.morquio.com
Information about MPS IV can
be found at www.morquio.com.
Also available at this Web site is
the Morquio registry where adults
with MPS IV can register and
families can register their child
with MPS IV. Once registered, it
is recommended that updates be
made at least yearly. This natural
history information is critical for
development of treatments for
MPS IV, providing evidence of drug
effectiveness and supporting the
approval of the drug.
MPS VI Community
Web site
www.MPSVI.net
Log into the first Web site 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.
39
resources and helpful information
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.
MPS IV Registry
>>
resources and helpful information
40
Sites that link to sources of
FREE iPads and fundraising
resources:
• Apps for Children with Special
Needs (http://a4cwsn.com)
• iHelp for Special Needs
(www.ihelpforspecialneeds.com)
• Lillie’s Pad: Your Special Needs
Resource for the iPad and iPhone
(www.lilliespad.com)
• Squidalicious: The Adventures of
Leo and his Potty-Mouthed Mom
(www.squidalicious.com)
• Broadcast your need to everyone, everywhere. Write a quick explanation
that friends and family can forward through e-mail and post on social
networking sites. There can be an old device sitting forgotten in a friend’s
junk drawer. If somebody knew their old iPad could make a difference,
they might give it away instead of trading it in when they upgrade. Get the
word out!
• Borrowing is a great way to get an idea of what the user might need for
device training, behavioral support, apps and accessibility. Figure out how
the user is going to carry, reach and protect their device. If you can’t get
the actual object of your desire into the hands of the user, try using an old
iPhone with apps for your trial.
• Fundraise. You don’t have to belong to a club or start a foundation to
have a yard sale and put the money aside for an iPad. Ask a sorority, a civic
group such as the Lions Club, or your niece’s Girl Scout troop to make
your cause their cause.
• Go to parent or professional support and information sites such as
forums, social networking sites and blogs. These sites link to current iPad
raffles, technology giveaways, free or discounted apps, and foundations
accepting applications for free iPads. Search for sites that review special
needs apps, discuss disability and technology, education and technology,
a specific diagnosis, or provide special needs resources. Most sites offer
readers multiple ways to receive updates. Choose one that you will check
regularly; you need to find out about the latest opportunity ASAP.
• Joining special needs awareness and support groups in your area (either
online or in person) is a great way to learn about local resources.
There might be funds and waivers that can reimburse you for an iPad,
accessories and training. Some sources might even provide funds up front
for special needs related uses.
• Individual grants can be used to pay for an iPad. Foundations give away
new or refurbished devices. Grants for special needs-related groups
and businesses to fund technology programs are out there. Free iPads
and iPods are out there, but competition is fierce. Write about your
experiences in your grant request or application. Stand out from other
deserving applicants by sharing how you tried to raise the funds, how
you’ve educated yourself, that you are connected with local and online
resources, you have an implementation plan, and that you are committed
to helping someone with special needs meet their goals with an iPad
or iPod.
donations
in memory of…
Norman Dorsey
Earl Adams Jr. in memory of
his grandson Mitchell Stump
Petey Feibelman
on his birthday
Frank and Mathilde Bachman
Kathleen Brandt
Norma Lewis
James and Hildegard McGeehan
Joseph and Patricia McGuriman
Jim and Lynn Shebesta
Betty Skipper
Thomas and Barbara Symons
Dirk Vandersteen
Vera Veil
Delores Volz
John and Margaret Volz
William Volz
Kristofer Arnold’s
30th birthday
Bill and Marge Hughes*
Tony and Sherrie Roman
Carter Brotherton
Jeffrey Hunter
Edie Burke
Doug and Kirsten Laraby*
Owen Caldwell in memory of
his grandson Drew Wanstall
Marguerite Caldwell
Barbara Jacoby
Matthew Caldwell on his
18th birthday
Marjorie Austin
Brendan Carter
Pat and Laura Jackson
John McGhee Cowin
Ron and Beckie Adams*
Mr. and Mrs. Thomas Adams Jr.
Ashley Banks
Thomas and Mary Elizabeth Hoyt
Stephanie Landau
Deborah Luthy
Michael and Jo Alice Mospan
Ryan Ortiz and Capital One’s
Southeast Commercial Banking
Rainbow Committee of Milton United
Methodist Church
Mary Bess Simmons
Charlie and Rosie Waters
Dr. Keith and Debby Waters
Dr. Marshall and Emilie Waters, III
Durand Wayland
Rev. George and Joyce Wheatley Jr.
Foster and Mary Ann Wick
Phyllis Feibelman
Gabriella Giannone
Christy Little
James Healy in memory of
his son Scott Healy
Catherine Bromberek
Irene Clark
Mike, Annette and Rick DuPlanty
James and Jackie Gloyd
Tommy and Marianne Healy
Nanny and G. Tom Maher
Thomas C. and Nancy Maher
Robert McCormick Foundation
Jeffrey and Katrina Shebesta
Jean Willard
Andrea Johnson in honor
of her nephews Wynn and
Dorian Johnson
Shedera Bausch
Sylvia Bevilacqua
Big Red Basketball
Elsie Connelly
Goodwill Industries of SE Nebraska
Steve and Mary Jo Graphenteen
Stephanie Kinser
Vicki Marker
Afiya McLaughlin-Johnson
Ken and Linda Nicholson
Kiley Roelfs
Chris and Jason Sand
Caitie Schrotberger
Charles and Connie Stevens
Loyde Kiker in honor of his
granddaughter Lindsey Efird
Kate O’Loughlin
Stephen and Patricia Sasser
Storm Technologies
Jean Delmonico
Rose Delmonico
Liana Escott
Johnnie and Katherine Hartgraves
Noreen Howlett
Pamela Jackson
Susan Kaufman
Catherine Kelleher
Brian, Kris and Chelsey Klenke
Theresa Kronebusch
Charolotte Kurland
Eugene and Bette Laatsch
Annette Larson
Ron and Kathleen Leishman
Eduardo and Anita Luera
Kristin Mateja
Carri Mitrick
Carolyn O’Malley
Jean O’Malley
Tim and Nancy O’Malley
Jeffrey and Mary Orlando
Chris and Beth Pattock
Robert and Josephine Pauli
Donald and Marie Reising
Richard Robbins
The Sarra family
Mike Schleter, Terri and Jennifer Klein
Baker Shelton
Mary Stevens
Joseph and Judy Vietri
Brian and Julie Vietri
Thomas Koss
Anne Marie and Bob Siudzinski
Katie Shine
Frank and Nancy Aiello*
Clint and Zach Szemanski in
honor of all those working
toward a treatment
Tracy Szemanski
Hannah Taulton
Michael and Laurie Dorsey
Susan Flaherty
Jerry and Sheryl Hall
Dennis and Teresa Shafer
Scott and Suzanne Stauffer*
Robby, Anita and Sam Taulton
Hobby Vanzandt
Mr. and Mrs. Jerry Deutser
Eleanor Walker in memory of
Steve Walker, and Nicholas
and Matthew McNally
Phil Brown family
in honor of…
Conner Anhalt
Mr. and Mrs. Jerry Deutser
Millie Anhalt
Joe and Nina Brown
Barry and Barbara Lewis*
Sally Roberts
Millie Anhalt’s birthday
Katie Herbst
Barbara Eaker
Gerry and Jay Karkowsky*
Saranne Kosberg
Lee Matthews
Mel and Millie Anhalt
Mark Lessing Jr.
Lori Spinney-Flagg and John Flagg
David Hooper
Melissa King
Maria Leone
Milne and Janice Matthews
Lisa McCarthy
Brian Nowicki
Michael and Cheryl Sciaraffa
Elinor Twomey
Judge Howard Mays Jr.
in honor of his greatgranddaughter Annabelle
Bozarth
Mary Kirch in honor of her
granddaughter Allison Kirch
Robert and Marsha Bozarth
Lorraine Baron
Rick Baron
Karen Beckley
John and Jane Benedict
Robert and Susan Byers
Marjorie Carpenter
Robert and Elizabeth Clarke
Ruth Clarke
Harold and Joyce Cohen
James Doyle and Mary Coldsmith
Randal and Mary Coldsmith
Nicole Morrissey
Cade Morrissey
Andrea Priest
Cynthia Anhalt
Irving Schatzberg
John and Bonnie Hoegl
John Schmake’s father
Cynthia Anhalt
Schlesinger Family Philanthropic Fund
of the Jewish Communal Fund
Aidan Carter
Julie Held
Sam Caswell
Keith and Heidi Caswell*
Alexandra Collins
Rachel Braukman
Jerry Deutser’s birthday
Marvin and Joan Kaplan
Susie Miller
Dede and Connie Weil
Melvyn and Cyvia Wolff
Sue Deutser
Mr. and Mrs. Richard Pulaski
Jill Ditto
Cynthia Anhalt
Allie Ehlinger’s birthday in
honor of Jack Frye
Rachel Lowe
Braden Farrell
Beryle Ramsey
continued >>
*Annual Fund donor
41
Jack Fowler
Brittany Sheaffer
Janice Peterson
Jeff and Libby Aiken
Kimberly Fowler
Brynlee Thompson
Steve and Cynthia Hamblen
Donald and Julie Ames
Michael Ames
Robert and Joanne Ames
Ronald and Nancy Rossi
42
Kimberly Glover
donations
>>
Karina Guajardo’s
20th birthday
Cynthia Anhalt
Veronica Cortez
Antonietta Ellard
Carla Ellard
Lucille and Kathie Fernandez
Luis and Angela Guajardo
John T. Thornton
NE W MEM B ER S
Brook Benefield
Morgan Motsinger
Moss Point, MS, adult with MPS IV
Tillamook, OR, mother of Annika Rose
Motsinger, MPS III
Ronald Brown
Kearney, MO, father of Isaiah and
Christian Brown, MPS III A
Mark and Cindy Prosciak
Brittany Clubbs
Carley Trocheck
Vickie McFarlan
Harpursville, NY, mother of
Hunter and Kingston Clubbs, MPS II
Megan Weisenbach
Mary and Jimmy Dushane
Regina Osterhoudt
Billings, MO, grandmother of
Reiley Osterhoudt, MPS II
Deb Purcell
North Vancouver, BC, mother of
Trey Purcell, MPS II
Fairland, OK, parents of
Peyton Dushane, MPS I
Mike Schneider
Lennie Forkas*
Frank and Jane Middleton
Lori Fresina
Amber Snow
Wilmington, MA, friend
Joe and Nina Curcio
Christian Yard
Andrew and Stephanie Glock
Salt Lake City, UT, mother of
Matthew Jay Montano, MPS II
Ford Inglis
Employees of Schneider Downs
Pittsburgh Internal Audit Team
Williston, VT, parents of
Travis Glock, MPS I
fundraisers
Pam Gross
Linda Cohen
Jennifer Klein
Dancing with Dominic
Olivia Guidry
Amy Richardson
Lucas Hembree
Darla Elswick*
Sydnee Jensen
Mike Schleter and Terri Klein
Michael Lewandowski
Sarah Varro
Olivia Lovell
Marjorie Lovell*
Mr. and Mrs. James Maffitt
Amy Barkley
Clayton Martin
Hershel and Judy, Kaye, Josh
and Joy Gilliland
Dustin Matz
LeeAnn Adams
Danny Miller
Dawn Morrison
Douglas and Anita Richmond
Matthew Montano
Amber Snow
Austin Nace
Mr. and Mrs. E. Paul Kurst
Andre Neveu
Faculty Senate of James Madison
University
Reese O’Connell’s birthday
in honor of Jack Frye
Rachel Lowe
Grady Savage’s birthday
in honor of Jack Frye
Rachel Lowe
Mr. and Mrs. Richard Madden
Scotty Whitecotton
hosted by Jeanette Espinola in
honor of Dominic Henriquez
Ernst and Young Jeans Day
Sammamish, WA, mother of
Courtney Gross, MPS IV
Colleen and Shane Hood
Caro, MI, parents of Lauren Hood,
MPS I
Marcy Squires
Phoenix, AZ, mother of Jason
Lawrence Byrum, MPS I
Ken and Courtney Walker
Woodland, WA, parents of
Trinity Walker, MPS III A
Trenace Walker
Pompano Beach, FL, mother of
Tyler Walker, MPS I
in honor of Alexandra Collins
Sachin Kamble
Post Office Café Case Race
Irving, TX, parent of Sarvjeet Sachin
Kamble, MPS III A
Jodi Westerlund
Attila Lajko
Cindy Wiley
Washington, DC, aunt of
Peter Lajko, MPS IV
Lula, GA, mother of Andrew Wyatt
Oliver, MPS I
in honor of the Lessing family
Trivia Night for Noah Mehling
held by Hamilton County
Firefighters Local 4416
matching gifts
Alliant Energy Foundation, Inc.
Allstate Giving Campaign
Arch Capital Services
Hewlett-Packard
IBM Employee Charitable
Contribution Campaign
McGraw-Hill Companies
Progress Energy Foundation
donations
Sarah Aaserude and Todd Waddell
Bill and Cathy Abernathy
Stuart and Karin Adams
Mary Starr Adams
Dr. Mel and Millie Anhalt
Randy and Cynthia Anhalt*
Tim and Mikki Annis
Anonymous
Robert and Marjorie Austin
Paula Baker Bryan
continued >>
Charles Litchfield
Bonneau, SC, father of
Madison Litchfield, MPS IV B
Ruth Major
Maumee, OH, mother of
Aric Daniel Major, MPS II
Jamie McGuinniss
Bronx, NY, parent of
Michael McGuinniss, MPS I
Sucely Miranda
Brooklyn, NY, parent of
Wilian Zaldana Miranda, MPS I
Nicolette Moinet
Raleigh, NC, friend of Megan Dean,
MPS I
Jim Monaco
Elmwood Park, NJ, cousin of
Jason and Justin Leider, MPS II
Isabel Morales
Bloomington, CA, mother of
Ileany Ramos, MPS III
Carmen Mosley
Monroeville, PA, mother of
Andrue Mosley, MPS I
*Annual Fund donor
Halethorpe, MD, adult with MPS II
Naches, WA, adult with MPS VI
>> Wayne and Catherine Bardsley
Steven and Maria Foshay
Jason and Jamie Fowler
Steve and Betsy Fowler
Atul and Surabhi Garg
Richard and Ronni Gates
Dennis and Chris Goggins
Julia Gossett
Charles and Shirley Hagermann
Gerald and Sheryl Hall
Mark Haskins
Walt and Judi Hauck
Mark and Darlene Hesprich
Jacqueline Holt
Todd and Jennifer Howard
W. Andrew and Lauran Jack
Earl and Doris Klenke
Fred and Joyce Koehler
John and Joyce Lane
Robert and Katie Lawson
Judith Leger
Jeff and Deena Leider
Monica Leone
Hai and Kathryn Lieu
Jamie and Jennifer Lipscomb
Cynthia Logan*
Barbara Lyons
Dorothy Mask
Michael McAtee
Patricia McCann
Judith McKinstry
Bill and Karen McNeil
Monsanto Fund
Theresa Morris
Jim and Paula Moskal
Mark and Tina Mulder
Michael and Anita Muonio
Austin and Dorothy Noll
Bruce and Jeanne Palzer
Thomas and Vickie Patterson
Mark and MaryEllen Pendleton
Beth Pletcher, MD
RA Bryan Foundation*
Samuel Ramsey
Faith Rattman
Tony and Sherrie Roman
Richard and Marcia Roush
Mike and Sandy Ruszkiewicz
Katheryn Ruthruff
Karlen Sanberg
John and Sue Scott*
Mike and Barbara Smith
Joseph Smith
Mr. & Mrs. William Stark Jr.*
Tracy Szemanksi
Hal and Laura Thorsrud
Jon and Ellie Totz
Michael and Veronica Vacca
Sent and Mary Visser
Charles Vite*
Marie Wegener
Tom and Theresa Weisenbach
Claude and Roselyn Wells
Roy and Zezee Zeighami
43
donations
Dwight and Debbie Barkley
Cynthia Barry*
Jason and Amy Blair
Mike and Grace Bodura
Joe and Katherine Bonville
Marie Bonville
Daniel and Debra Brockman
Jay and Judie Brooks
Sharon Browne
William Brubaker
Bryson Foundation
Nancy Bucher
Mark and Stephanie Caldwell
Rob and Diane Cassil
Camille Chaires
Michael, Margaret and
Grace Ciacciarelli
Rebecca Clarke
Kent and Karlene Classen
Stephen and Denise Clayton
Leo and Janet Cook
Billi and Jeremy Crockett
Bart Barner and Patricia Cuddihee*
Dr. Robert Desnick
William and Bonnie Doster
Jack and Tara Elston
Josh Nall and family
*Annual Fund donor
n a t i o n a l m p s soc 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
city / state / zip
phone
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.
b $50 Family
b $80 Foreign
b $75 Professionals
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
Would you like our publications in
b electronic (e-mailed) format or
b hardcopy (mailed) format
Mucopolysaccharidoses (MPS) and related diseases are genetic lysosomal storage
diseases caused by the body’s inability to produce specific enzymes.
44
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 III A
MPS IV A
MPS IV B
MPS VI
S y n d r o me
MPS III B
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 III C
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 III D
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
B O A RD O F
directors
Steve Holland, p r esi den t
Amy Holland
1752 Hilltop Circle
Fort Worth, TX 76114
817.625.6999
[email protected]
[email protected]
MPS I H-S parents
Stephanie Bozarth, vi c e
Kristine Klenke
7604 Sherry Creek Road
Worden, IL 62097
618.888.2204
[email protected]
MPS II parent
MaryEllen Pendleton
presi den t
6203 Larstan Drive
Alexandria, VA 22312
703.256.1980
[email protected]
MPS IV parent
Tom Gniazdowski, t reasu rer
Anne Gniazdowski
315 Meadowview Court
Springboro, OH 45066
937.748.8809
[email protected]
[email protected]
MPS II parents
Austin Noll, s e c r etary
3735 Redwood Circle
Palo Alto, CA 94306
650.521.0089
[email protected]
MPS III parent
Jeff Bardsley
1209 Daviswood Drive
McLean, VA 22102
703.547.7087
[email protected]
MPS II adult
Dawn Checrallah
58 Leroy Drive
Riverside, RI 02915
401.639.2689
[email protected]
MPS I parent
56 E. Vinedo Lane
Tempe, AZ 85284
480.831.2157
[email protected]
MPS III aunt
S TA F F
executive director
Barbara Wedehase
[email protected]
development director
Terri Klein
[email protected]
progra m director
Laurie Turner
[email protected]
a dminis trative a ss istan t
Lisa Todd
Kelly Rose
11111 Jordan NE
Albuquerque, NM 87122
505.797.3603
[email protected]
MPS II parent
[email protected]
Kim Whitecotton
S C IENTI F I C
A D V I S O RY B O A RD
1413 Emigrant Way
Modesto, CA 95358
209.544.2708
[email protected]
MPS II parent
Gordon Wingate
16319 Jordyn Lake
Tomball, TX 77377
832.498.1724
[email protected]
MPS III parent
bookkeeper
Angela Guajardo
[email protected]
Alessandra D’Azzo, Ph.D.
Gideon Bach, Ph.D.
Lorne A. Clarke, M.D.
Robert Desnick, M.D., Ph.D.
Patti Dickson, M.D.
Matthew Ellinwood, D.V.M., Ph.D.
Mark Haskins, Ph.D., V.M.D.
John Hopwood, Ph.D.
Joseph Muenzer, M.D., Ph.D.
Roy Zeighami
Elizabeth Neufeld, Ph.D.
6420 Diamond Drive
McKinney, TX 75070
972.965.5253
[email protected]
MPS III parent
Beth A. Pletcher, M.D.
Presi dent Emerita
Marie Capobianco
Ernie Dummann
Steve Holland
Mary Majure Couture
Linda K. Shine
Kathy Ponder, M.D.
Mark Sands, Ph.D.
Edward Schuchman, Ph.D.
Calogera Simonaro, Ph.D.
William Sly, M.D.
Charles H. Vite, D.V.M., Ph.D.
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.
Ed Wraith, M.D.
National MPS Society
PO Box 14686
Durham, NC 27709-4686
NON-PROFIT ORG.
U.S. POSTAGE
PAID
CHAPEL HILL, NC
PERMIT #74