2009 Recap Board of directors continues to push forward innovative

Volume 34 | Number 2 | Summer 2010
COURAGE
2009 Recap
International
MPS Day
Board of directors
continues to push
MPS community
forward innovative honors, remembers
initiatives
and celebrates
Sponsor a Child
for a Cure
Don’t get left
behind!
Upcoming
Events
2010 Family
Conference
at Knott’s
Berry Farm
Embracing a
Bright Financial
Future
Financial guide for
parents of children
with disabilities
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!
MISSION STATEMENT
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.
The National MPS Society’s office (ground floor on left).
Submission
Cutoff Date
Issue
Jan. 1.......................Spring
April 1....................Summer
July 1.............................Fall
Oct. 1....................... Winter
To submit information to Courage, please send text
(preferably via e-mail) to the address at right. 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.
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]
www.mpssociety.org
Table of
CONTENTS
Membership &
Subscription Form
President’s Letter.............................................................................. 2
Executive Director’s Letter................................................................ 3
Name
Program Director’s Letter.................................................................. 4
Development Director’s Letter........................................................... 4
New Members.................................................................................. 5
Affected Individual’s Name
Date of Birth
Donations......................................................................................6–7
2009 Recap..................................................................................8–9
Financial Summary......................................................................... 10
International MPS Awareness Day.............................................11–13
Diagnosis
Relationship
Address
Family News..............................................................................14–19
Fundraising................................................................................20–22
A Warm Welcome......................................................................23–24
Upcoming Events........................................................................... 24
City, State, ZIP
Telephone
E-mail
Remembering Our Children.......................................................25–28
Legislative Update.....................................................................29–32
Making Headlines......................................................................33–34
Standing Ovation.......................................................................35–36
Research News: Hope for the Future.........................................37–40
Resources | Helpful Information.................................................41–51
MPS Classifications........................................................................ 52
Family
Foreign
Professionals
b $50.00
b $80.00
b $75.00
Corporate Memberships Available
Would you like your name to appear
in our directory? b YES b NO
Would you like to receive Courage, the
Society’s newsletter? b YES b NO
Board of Directors.......................................................................... 53
Would you like our publications in
b electronic (e-mailed) format or
b hardcopy (mailed) format
Pictured on the cover:
• Jillian, Lindsey and Kelsey Burke (MPS III C)
• Deborah Moldover, legislative correspondent with
Sen. Barbara Mukulski’s office (D-MD), Ernie Dummann
and Jeff Bardsley (MPS II)
• Luke Bosse (MPS VI)
Please send your membership form and
check to:
National MPS Society
PO Box 14686
Durham, NC 27709-4686
1
President’s Letter
I have so much admiration when
looking at our MPS community. I
see and appreciate your dedication,
commitment, and love for our families
and friends. There are many astonishing
stories of members reaching out to
help improve the lives of all who are
affected with MPS diseases.
I see mothers and fathers, brothers and
sisters, aunts, uncles and grandparents
who work every day to improve the
quality of life for all our loved ones. The stories
are many. We all know members who live with MPS
on a daily basis. We have mothers and fathers who
have lost a child or children to MPS who are still
working and volunteering. Members who have
great family commitments and have very limited
wealth who have been working for years and years
to end suffering and make a better place for all of
us. I see doctors and their families who have lost
everything with the passing of a child yet they are
still committed and working hard for the good of
the membership. Parents who have more than one
MPS child and who still take the time to work on
fundraising, legislative efforts and all the support
programs that make our Society one of the best
and most motivated groups of people I have
ever seen. We have members who work at every
conference and volunteer their time, talents and
treasures to make all our experiences wonderful
and productive. We have members who sacrifice
their work careers; instead of advancement and
financial compensation, they are rewarded with
benefiting a family in need and bettering all
our lives.
These are the everyday heroes of the MPS Society.
Without them we would not have a strong and
growing Society. They work without the need for
2
awards; receiving no compensation. They work
tirelessly day and night, weekends and holidays.
They pick up the phone and ask if there is
anything else they can do.
These heroes are never thanked enough and have
little desire for thanks. They only seek a better
life for all with MPS. Their goals, like our mission
statement, is to help families while finding cures.
Although our Society is filled with hundreds and
hundreds of these heroes, I would like to take
this opportunity to thank some special ones, your
board of directors. When I mention our everyday
heroes, I am taking into consideration their
dedicated families as well. They are: Kris Klenke,
Dr. Kim and Stephen Frye, Dr. Klane and Amy
White, Steve and Amy Holland, Jennifer Clarke,
Austin Noll, Tom and Anne Gniazdowski,
MaryEllen Pendleton, Tami Slawson, Debbie
Dummann, Kim Whitecotton and Gordon
Wingate.
Although I am excited and pleased to recognize
some special everyday heroes, I will never forget
there are many more accounts of dedicated
members and friends whom I also acknowledge.
What is so wonderful about this is we all have the
potential to be heroes and help out. You can help
families close to you by hosting a social gathering.
You can do a fundraiser or participate in one. You
can become a member of our Policy with Partners
initiative and assist with our legislative agenda.
Or you can just see someone who is working on
the Society’s behalf and say thanks for all you are
doing. Special heroes—they are all around us.
Thank you for all your comments about our
new Web site! We are very proud of our new
look, and I want to thank Naureen Sayani who
spent many hours outside of her regular work
responsibilities working on the site. Naureen will
be our point person for keeping information
up to date on the Web site, so please e-mail her
with information you’d like posted or changed at
[email protected].
We are pleased to announce that,
following a random drawing,
Shannon McNeil and Carl Kapes
were awarded scholarships to
attend the MPS III Expert Meeting
in Northampton, UK, in August.
This two-day meeting offers the
opportunity to hear state-of-the
art presentations on the clinical
management of MPS III and to
learn about the latest research
developments
and
potential
therapies.
Please continue to let us know
how you celebrated International
MPS Awareness Day. The e-cards
on the new International MPS
Network Web site, www.impsn.org,
were being sent globally before
and after MPS Day! We are
blanketing the world with our
awareness about MPS and related diseases.
Terri, Naureen and I are covering for Laurie
while she is on maternity leave, so call any
of us with your family support or conference
questions. Amelia Eve was born April 29 and
weighed 8 pounds, 9 ounces. Mom, dad and big
sister, Julia, are all doing great!
Amelia Eve Turner
Executive Director’s Letter
I just returned from an energizing two-day
Healthy Community Institute for Nonprofit
Excellence conference in New Bern, NC,
sponsored by the Blue Cross Foundation of
North Carolina. The purpose of the conference
was to strengthen the organizational capacity
of nonprofit organizations. The National MPS
Society has been fortunate to be selected twice
to attend this very effective conference for
which there is no fee. Last year Terri Klein,
Ernie Dummann and I attended, and this year
Steve Holland and Kim Frye joined me for
presentations providing practical insight into
solving operational problems, understanding
board roles and responsibilities, creating effective
annual appeal campaigns, understanding giving
criteria from the grant-maker’s perspective,
selling the organization and much more. We
returned with ideas to share with the board and
our members to move the Society forward. I look
forward to sharing these ideas with you in future
communications.
3
Program | Development Directors’ Letters
4
Soon we will be together at the
conference at Knott’s Berry Farm.
We are excited to be hosting our
Celebrating Your Child’s Life
Experience (CYCLE) conference,
and also the first ever adultonly conference, “Finding Our
SPIRIT” (Strength, Purpose,
Independence, Resilience and
Initiative Together) along with our
family conference. This will be a great conference
year, and we hope your family can be a part of the
excitement!
The Family Support Committee (FSC) has been
busy awarding 2010 Continuing Education
Scholarships. Once again, we are proud to be able
to help 20 individuals obtain their educational
Springtime brings outdoor fun!
Our National MPS Society families
and friends have been inspiring
this spring with fundraising and
awareness campaigns to help our
children. We have spoken with
new families and families who have
been Society members for many
years. Each conversation escalates
the efforts of our mission.
Cornhole tournaments, school plays, marathon
races, charity dinners, preschool purple day
and the first annual MPS cup with NHL alumni.
The Society takes their hats off to those who
have found the time to help raise money and
awareness for these diseases. Our children have
courage, and MPS Society families and friends
are courageous in their efforts.
Remember, whether hosting a small or large
event, every opportunity you educate your family,
friends, colleagues and corporations about MPS
and related diseases is another step toward finding
goals. We will have more information on the
scholarship recipients in the next issue of Courage.
The FSC also has been busy awarding conference
travel scholarship grants to help families attend
the conference in September.
I hope you are able to attend one of the upcoming
regional social events being held this summer, or
one of the local walk/runs. It is always energizing
to be with your extended MPS family. If there is
not an event near you, please consider hosting a
picnic yourself. This is a great way to get to know
other MPS families in your area, and also allows
for a chance to renew old friendships. Please
contact me if you are interested in hosting your
own event. I hope to see you in September!
cures. All of us have a bit of courage; many of us
live each day with the most courageous children.
It takes courage to speak up for our diseases and
our children deserve the opportunity to be heard.
It is time for walk/run preparations! Sponsor a
Child for a Cure is a program that will be offered
at events across the country. If you are unable
to attend an event but would like to participate
with your family in honor or in memory of a
loved one please contact the office. A runner
will be assigned for your child and you will have
an opportunity to raise sponsorship. The money
raised is for research and your family will be given
a photo of your assigned runner with a courage
medallion.
The Society needs your help, your creative spirit
and your courage to help us make a difference
and find cures. If you would like additional
information, have a great idea, or need a little
help, please give me a call or send me an e-mail.
Jordan Barthel
Mesa, AZ, adult with MPS II
Brenda Booth
Bronx, NY, mother of Kamial Booth, MPS IV
Heather and Richard Kasarda
Allentown, PA, cousins of Austin Noll IV,
MPS III A
Jennifer Klein
Apex, NC, adult with ML III
Judith Leger
Vienna, VA, mother of Jeremi Leger, MPS III B
Karli Carmichael
Greenfield, IN, mother of Michael George,
MPS II
Jason and Isabel McKee
Martinez, CA, parents of Owen McKee, MPS II
Janet and Leo Cook
Monticello, IA, grandparents of Blake and
Morgan McDermott, MPS III A
Ty Ah Phan Morgan
Huntington Beach, CA, aunt of Kaitlyn
O’Donnell, MPS IV
Micalla Gadawski
Syracuse, NY, aunt of Zach Haggett, ML II
Noelle and William Pacl
Cedar Park, TX, parents of Logan Pacl,
MPS III
Susan Hale
Seattle, WA, professional
Jaime Hammock
Fort Gibson, OK, mother of Robert Dalton
Reed, MPS II
Darla Harrison
Mesa, AZ, mother of Justin and Kianna White,
MPS IV
Herb and Lela Hartso
Renton, WA, parents of Herbie Hartso IV,
MPS II
Norma Pacl
Hermitage, TN, great-grandmother of
Logan Pacl, MPS III
Timothy Pacl
Cedar Park, TX, grandfather of Logan Pacl,
MPS III
Dorothy Portillo
Marfa, TX, mother of Daniella Portillo, MPS III
Dora Rios
Laredo, TX, mother of an MPS IV child
Thomas Hickey
Raleigh, NC, father of Thomas Samuel Isaiah
Hickey, MPS II
Dave and Janet Roessner
Fort Recovery, OH, grandparents of
Ava Kremer, MPS III A
John Higgins
Lenexa, KS, father of Sam Higgins, MPS III B
Kelli Roessner
Fort Recovery, OH, aunt of Ava Kremer,
MPS III A
Kathleen Hinkle
Ellenton, FL, adult with MPS I
Brian Hulett
Spring Hill, FL, father of Elizabeth Hulett,
MPS I
The Kakkis EveryLife Foundation
Novato, CA, professional
New Members
Jeff Bardsley
McLean, VA, adult with MPS II
Murali Somarouthu
Falls Church, VA, father of
Ganesh Somarouthu, MPS VII
Jill Young
Cushing, OK, mother of Miles Young, MPS III A
Correction: New members John and Judie Brooks were listed incorrectly in the Spring issue of Courage.
The grandparents of Jack Fowler (MPS II) are from Bettendorf, IA.
5
Donations
In Honor of
Austin Nace
Carol White*
Mel and Millie Anhalt’s
Birthdays
Gerald and Susan Anhalt
Caroline Masur
Ethan Waddell
Phyllis Newell
Max Boccaccio
Jill Gordon
Elizabeth McClave
Matthew Caldwell’s
16th Birthday
Mark and Stephanie
Caldwell
T.J. Catanzarite
Wooster Elks Lodge
Charity Fund
Bryce Chesser
Morton and Susan
Stuhlbarg*
Karina Guajardo’s
18th Birthday
Carla Ellard
Toni Ellard
Jose Angel and Julia
Guajardo
Jake Hampton
Wallis, Monica, Natalie and
Nicole Hampton
Rylie Hayes
Mark Beasom
Sydnee Jensen
Linda Jean Cohen Levin*
Wynn and Dorian Johnson
Rebecca Krause
Ryan and Braden Kapes
Louise LoRiggio
Michael Ong
Allison Kirch
Sandra Barstow
Logan Marcotte
Edward Emanuelson
Chris and Erin Miller
Kurt and Brenda Warner
Declan Moylett
Jordan Bustos
6
Carley Trocheck
Vickie McFarland
Scotty Whitecotton
Lennie Forkas
Donations
In Memory of
Paul Adams
Nettie and Flip Archard
Lynn Ann Witt
Geoffrey Anders
Estelle Culpepper*
Stephanie DeAngelis
Carol Treutlin*
Tiffany Evans
Geraldine Booker
H.R. Domnitz
Kathy and Judy Engelhardt
Debra Fink
Christina Lutz
Larry Stirling
Sharon Thomas
Petey Feibelman
Phyllis Feibelman*
Gabriella Giannone
Marcie Williams Ament
Maraline Ashley
F.J. and Mathilda Blahosky
Lisa Boucher
Bristol Developers, Inc.
Charles and Rosemarie
Buccino
Dan Clifford*
Francine Consolazio
Peter Coppola and
Cathryn Cavanagh
Linda and Joseph Dante
Joseph DeNaro
Frances Di Carlo
Steven and Wendi Digangi
Tracy Elgersma
Cathleen Etlinger
James Evans
Joseph Ferrary
Susan Ferrary
Sean and Michelle Finnerty
Stephen Franklin
Lynn Gasaway
Erica Gendel
Marie and Erik Glaser
Leonard and Ellen Hauser
William and Jill Helm
Debi Hessel-Roher
Amy Huber
Terri Klein
Jill and Matthew Kuczek
Jeffrey and Gail Lahm
Arlene Langowski and
Luke English
Lynn Lilore
Christy Little
Diane and Vito Locascio
Rose Marie Malanga
Charles and Paula Margiotta
Joan and Joseph McCaffrey
Edward and Diane McLeod
Marlene Molinoff
Robert and Linda Montanino
M.G. Murphy
Nick, Donna, Nicholas,
Natalie and Nina Muzzicato
John and Jacqueline Natoli
Jerry and Teri Nemeroff
Ellen Newman
Miriam Newman
Joy Orlowski
Cynthia Panebianco
Passaic Valley Ice Hockey
Parents Association
Josephine Placa
Mark Pollack
David Porcelli
Lisa Prospero
Diane Rapczynski
Kathryn Reilly
Carol Rouski
Michael and Nicole Russo
John and Maureen Saar
Ryan Scharfy
Anthony Sgammato
Arline Signorella
Dennis Slavin
Kevin and Jennifer Smyth
Summit Sales &
Marketing, Inc.
Jessica Taylor
Kirsten Theodos
Joella and Robert Thompson
Fran and Joe Torella
Evelyn van der Wyk
Antoinette and Anthony
Ventura
Frank and Lorraine Ventura
Roy and Theresa Walters
Denise Weber
Laura Strothmann Williams
Carolyn Zack
Brenda LaBeth
Tracy and Roger Clay
Terri and Miles Cramer
Dwayne and Shelley DeVries
Henry and Barbara DeVries
Aurora Laorenza
American Ring Company, Inc.
John Avjian
Joseph and Ana Calandrelli
Michael and Delia Cinieri
Barbara and Paul Costa
Jennifer and Christopher
Delmastro
Rachel Emerson
Dayna Gilchrist
Adeline Giuliano
Virginia Rand and Cheryl
Hinkson
Cathie Hood
Elise and Alexander Laorenza
Gerald and Joan Lapierre
Elizabeth Leonardo
Dolores Lopez
David and Grace Mello
Donald and Helene
McDonald
Shelley Parness
Janet Plant
David Prata
S.C. Raymond
Norma and Joseph Renzi Jr.
Dolores Sabatini
Catherine Scampoli
Susan and Joseph Scichilone
Judith and Brian Skeffington
Vincent and Anna Maria
De Tora
Leonard and Dorothy
Wasilewski
Leona Zienowicz
* Annual Fund donor
Donald Miller
Anita McFarland
Todd and Tracy Miller
William Orr
John Williams
Joseph Rafftery
Elonie Bezanson
D-Y Regional Class of 1971
Douglas and Sharon Frisby
Kevin and Sheila George
Jacqueline Judson
Tom and Kim Whitecotton
Richard Rotelli
Michael and Veronica Vacca
Matching
Gifts
Abbott Laboratories
Employee Giving Campaign
Exxon Mobil Foundation
Retiree Matching
Gift Program
Gap Foundation Gift
Matching Program
Microsoft Matching
Gift Program
Wellpoint Associate
Giving Campaign
Noah Scott
Donald and Gail Di Rubio
Fundraisers
Brett Sessions
Dean and Julia Azar
Ana Luisa Baker
Wendy Finkelstein
Cheryl McKiearnan
Robert and Leigh Ann
Ramsey
BioMarin Jeans for Genes
Day fundraiser
Bowl for Caden fundraiser
hosted by Troy and
Dianne Mitchell in honor
of their son Caden for
MPS II research
Post Office charity event
hosted by Mark Lessing
Mark Stevenson
Ida Bilthouse
Rev. and Eleanor Boyles
Gary and Beulah DeGraaf
Don and Dorothy
Gracenendyk
Dorothy Groenendyk
Robert and Beverly Jurecic
Raymond Klyn
Sylvia Langstraat
Judy Oppewall
Pella Corporation Employees
MES Department
Brent and Susan Pierson
Marie Renn
Lilo Ritter
Sheldon Starkenburg
Ethel and Ben Stevenson
Catheryn Van EE
Jochem and Marlene
Vugteveen
* Annual Fund donor
Donations
Mary Starr Adams
Dean and Kathy Aker
Frederick and Nancy
Andrews*
Melvyn and Millie Anhalt
Barney and Betty Arceneaux
Marjorie and Robert Austin
Wayne and Catherine
Bardsley
Norman White and Eileen
Basquill
Frank and Lorraine Bien
John and Jennifer
Birmingham
Joe and Katherine Bonville
Marie Bonville
Stephanie Bozarth
Dan and Deb Brockman
Vaughn and Nancy Bryson*
Andrey and Marina Bulkhak
Heidi and Keith Caswell
Earl and Pat Chambers
Mike, Margaret and Grace
Ciacciarelli
Kent and Karlene Classen
Stephen and Denise Clayton
Jeffrey and Julia Conner
Robert and Laura Cowin
Trampus and Amanda Craig
Bart Barner and Patti
Cuddihee
Dan and Linda Day
Robert Desnick
Bonnie and William Doster
Maurice and Jeanne Drew
Charles and Josephine Ellard
Tara and Jack Elston
Lennie Forkas
Jason and Jaime Fowler
Surabhi Garg
Richard and Ronni Gates
Kevin and Andrea Gates
Vincent and Shirley Giles
Tom and Anne Gniazdowski
Luis and Angela Guajardo
Donna Gulisano
Susan Hale
Sheryl Hall
Wallis, Monica, Natalie and
Nicole Hampton
Paul Harmatz
Jeff and Barb Harrell
Walter and Judi Hauck III
William and Jacqueline Holt
Todd and Jennifer Howard
James and Saundra Huff
W. Andrew and
Lauran G. Jack
Jewish Communal Fund
Gary and Paula Kacer
James Kalteaux
John and Janet Kappel
Beth Karas
Heather and Richard
Kasarda
Kevin and Mary Kimmet
Gary Kirch
Earl and Doris Klenke
Mike and Cami Lane
John and Joyce Lane
Donna Kay Langan
Steven and Camille Lanier
Darren and Patty Latham*
Judith Leger
Catherine Lewis*
Lathryn and Hai Lieu
Cynthia and Gene Logan
Barbara Lyons
Jason Madison
Andre and Melissa Marcotte
Dorothy Mask
Dick and Pat McCann
Stephan and Marie McClurg
Matthew and Shannon
McNeil
David and Christina
Michelmore*
Joe and Paige Migliozzi
Jim and Paula Moskal*
Michael and Anita Muonio
Rosa Navarrete
Eileen and Lawrence
O’Steen
Lawrence Pacl
Mary Jo Page
Thomas and Vickie
Patterson
Cynthia and William
Plunkett
Samuel and Nancy Ramsey
Gene Rice
Sherrie Roman
Carl and Donna Rose
George and Athena
Sarantinos
Muhanad Jawad and
Juman Shawkat
Arthur and Marilyn Sheekey
Tami Slawson*
Robert and Cheryl Slowey
Mike and Barbara Smith
Jack and Barbara Sorter
Bill and Ann Stark*
Tracy Szemanski
Richard and Karen Thaller
The ESCO Group
Hal and Laura Thorsrud
Sent and Mary Visser
Gordon and Tanya Wahl
Marie Wegener
Paul and Kristin Wehrle
Tom and Theresa
Weisenbach
Donald and Lisa Wells
Hubert and Elaine Willman
Wilmington Blue Rocks, LP
Phyllis Wilson
Gordon Wingate
Carrie and Doug Yates
7
2009 Recap
Board of directors continues to push forward
innovative initiatives
The board of directors of the National MPS Society meets three times a year, as stated in the bylaws.
This diligent group of dedicated members strives to fulfill the Society’s mission of finding a cure for
MPS and related diseases. The following overview of the 2009 meetings summarizes how your board
is directing resources to efficiently and effectively support research, and support individuals and
families affected by MPS. A complete copy of the minutes can be obtained by contacting the office.
The first board meeting of 2009 was held Feb. 7 in Raleigh-Durham, NC, headquarters of
the National MPS Society. A day of board training was provided on Feb. 6 by Beth Briggs,
president of Creative Philanthropy in Raleigh, NC.
• Approved the appointment of Austin Noll as new board member.
• Discussed policy of stock sales, and plans to explore financial planning and investment opportunities
with an investment company.
• Hosted speaker Gail Perry, ambassador of local fundraising chapter in North Carolina. Reviewed
committee goals, fundraising development, board focus, governance and staff work associated with
policy making.
• Announced completion of the anesthesia booklet and fact sheet publications.
• Announced that Web site redesign will begin in 2009.
• Approved family subsidies for attending the Disney conference, including two complimentary
hotel nights and a 30 percent discount on park tickets.
• Approved thank you note policy and board member pledge forms.
• Approved funding allocation for general research, MPS II, MPS III, ML and a one-time grant with
the Lysosomal Storage Disease Network in the 2009 budget.
• Approved 2009 budget.
The second board meeting was held June 6, 2009, in San Diego, CA.
• Welcomed Terri Klein, new development director.
• Discussed investments, diversification, bank fees and audit procedures.
• Update on 2010 family conference at Knott’s Berry Farm in California.
• Announced that a charitable solicitation licensing program is recommended by the Fundraising
Committee and will be implemented by the development director.
• Presented five submitted grant proposals to be funded in the second quarter of 2010.
• Discussed that additional targeted solicitation reports will be generated using Donor Perfect for
developing and tracking funds.
• Presented recommendation for joint fundraising policy for governing fundraising events that
benefit more than one nonprofit.
• Discussed the following fact sheet reviews and edits: Uses of Developmental Testing, Orthopedic,
Otitis Media, IEP Tips for Parents, and Pain Management.
• Announced that the seizure fact sheet is complete.
• Announced that a commitment was made with Mark Rowe for the 2009 Web site redesign.
• Announced that 20 Continuing Education scholarships and 20 conference scholarships were
awarded by our Family Support Committee to members in 2009.
• Announced that $303,000 has been allocated to Family Assistance programs since 2002.
8
continued
2009 Recap
•P
resented by the Technical Committee, 33 letters of intent for research grants received, committee
requested 12 full proposals; 11 were submitted.
•D
iscussed formal announcement for the MPS II clinical trials and determined this cannot happen
until all legal and regulatory issues are resolved.
• Approved Equal Employment Policy.
• Approved Investment Policy.
• Approved Pharmaceutical Policy.
• Approved T-Shirt Policy for fundraising and walk/run events.
•A
pproved adhoc Governance Committee document and statements: Have the Desirable Qualities
for Board Member, Board Culture Statement and Board Nomination Process Statement.
The final board meeting was held Dec. 17, 2009, in Orlando, FL, during the 23rd Annual
Family Conference.
•W
elcomed new board members Gordon Wingate and Jennifer Clarke, whose terms began
Jan. 1, 2010.
•D
iscussed CD and investment options with Austin Noll and Gordon Wingate to follow up with
quarterly reports.
•R
eceived Dr. Kakkis’ final installment for the endowment. This completes the endowment
commitment.
•A
nnounced that the Lysosomal Disease Network received a rare disease clinical network $5 million
grant (19 grants total awarded). This grant requires advocacy group involvement.
•D
iscussed National Organization for Rare Disorders/EURORDIS global online community in
development with MPS III as one of the targeted diseases.
•P
resented National Institute of Health meeting highlights that included importance of natural
history studies, impediments of clinical trials, and update on newborn screening with inadequacies
in screening available for MPS inclusion.
• Presented current year-to-date fund development margins with targeted solicitation report.
• Discussed top donor onsite meetings.
•W
alk/run breakfast will now include all fundraising events throughout the year for recognition.
This tradition will continue in future years.
•A
nnounced that nine fact sheets have been updated for use and the ML II/ML III booklet is now
complete. All booklets are now branded.
•A
nnounced that the Education and Publicity Committee is producing and editing a thorough
membership survey.
•A
nnounced that the international MPS Web site will be integrated and maintained by the National
MPS Society host.
•P
resented to the board that two Extraordinary Experience recipients were awarded for an SAT
prep class and high school band camp.
•A
nnounced 11 grants were awarded in 2009 for medical durable goods, averaging $1,445.
•D
iscussed in detail the goals and board development plan for the Governance Committee.
• Discussed the 2010 CYCLE conference that will be held in Los Angeles, CA.
• Presented board duties and jobs for the Disney conference.
•A
pproved adhoc Governance Committee to be a standing committee in 2010 with no change in
committee members.
• Approved amendments to Board Travel Policy.
9
Financial Summary
National MPS Society Financial Report Summary
The Society annually obtains an audit of its financial activity and files a Form 990 with the IRS.
For additional information, contact the Society’s office.
2009 Actual*2010 Budget
Beginning Cash Balances
Restricted for Endowment, Research
$ 1,524,381
$ 1,737,860
and Family Assistance
Unrestricted
668,206
612,040
Inflows
Annual Fund
Conference Income
Donations/Fundraisers — General
Donations/Fundraisers — Family Assistance
Donations/Fundraisers — Research
Dues
Interest
Operating Grant/Sponsored Revenue
Corp. Gifts/Foundation Grants/Major Gifts/Endowment
Walk/Run Research Fundraiser
Sale Items
Total Inflows
$ 1,451,666
Outflows
Administrative
$
Bereavement
Conference
Education — Newsletters, Booklets, Web Page
Family Assistance — Direct
Fundraising
Legislative
Membership Database and Directory
Office and Equipment
Personnel
Research
Total Outflows
73,677
178,458
151,145
20,810
167,846
39,152
32,492
92,500
402,500
283,567
9,519
$ 1,074,000
40,081
$
5,728
299,715
56,822
44,098
76,490
9,939
20,763
51,915
210,802
478,000
$ 1,294,354
75,000
159,000
133,000
18,000
100,000
38,000
38,000
150,000
80,000
280,000
3,000
43,300
15,400
297,500
58,300
51,200
60,500
15,000
24,500
51,000
230,924
440,500
$ 1,288,124
Ending Cash Balances
Restricted for Endowment, Research $ 1,737,860
$ 1,560,701
and Family Assistance
Unrestricted
612,040
575,075
* 2009 Unaudited data
10
International MPS Day, May 15, is a way to honor everyone in the MPS
community. It offers an opportunity to remember all the children and adults who
suffer from MPS and related diseases; to think about the children we have lost;
to recognize the doctors and scientists who are dedicated to finding a cure; and
to remember each other and be thankful for the strength and support we both
give and receive.
Following are some ways MPS day was celebrated this year.
We took T-shirts left over from our walk/run and lollipops to Ryan’s brother, Adam’s, school and
passed them out to students in his fourth grade class. We also handed out a little paper with some
information. For Ryan’s sister, Jana’s, first grade class, we made little bags with inforomation, a purple
balloon, ribbon, a marker and a lollipop. We asked the kids to write an MPS message on the balloon,
blow it up and play with it on May 15. Ryan came with me to Adam and Jana’s classrooms and gave
high-fives all around and a few hugs too. The kids are always excited to see him. For Ryan’s preschool
class we made kites and took them outside and flew them. We also sent lollipops home with a sticker on
them with information on it. The kids had a blast making and flying their kites. It was really cute to hear
the preschoolers from Ryan’s class running with their kites outside yelling “MMMMPPPPSSSS!!!!!!”
Marie Hunt (mother of Ryan, MPS II)
Jay Raftery, father of Joey (MPS III), and a friend took a banner (pictured below) to New York City
and were in the crowd outside the Today Show on May 15. Jay worked hard to spread awareness about
MPS Day and also the Senate resolution.
International MPS Awareness Day
International MPS Awareness Day 2010
Grey Chapin (far right) raised more than $1,200
on MPS Day at her lemonade stand. Grey’s sister,
Blair (left), has MPS III.
11
International MPS Awareness Day
On MPS Day, I wore purple as a sign of strength, courage and hope for all the kids of the past, present
and future who will battle these terrible conditions. My daughter Allison (MPS I) also wore purple
and passed out purple lollipops and purple ribbon temporary tattoos to her classmates. This gave her
a chance to tell her peers about her life and how MPS affects her. Allison also brought ribbon cards
for all of the teachers in her school. My other daughter Ashley, 9, wore purple and held a fundraiser
to benefit the National MPS Society. Students paid $1 to wear a hat, and were able to purchase purple
lollipops and purple ribbon temporary tattoos for 50 cents each. Ashley also gave ribbon cards to her
teachers.
Last year Ashley and Allison made a video to help raise awareness. Go to www.youtube.com/
watch?v=jTdfZA1LRyo to view it.
North Dakota residents will be proud to hear that both of our U.S. senators, Sen. Dorgan and Sen.
Conrad, have agreed to co-sponsor a resolution to have May 15 declared National MPS Awareness Day
by the United States Congress. We are even raising awareness in our federal government!
Jennifer Restemayer
On Friday, May 14, more than 80 people dyed their hair
PURPLE. The event raised more than $1,100!
Stefanie Boyce (mother of Jayden and Brooklyn, MPS III)
On May 15 Matt Wojnarowski sang the National Anthem for the Columbus Clippers baseball game
and the Clippers honored the Wojnarowski family by announcing National MPS Awareness Day!
Taylor’s (MPS III) photo was shown on the big screen.
To see a video of Matt singing, go to http://rachelwojnarowski.wordpress.com/2010/05/21/
columbus-clippers-national-anthem-video/.
12
Star Bowen (mother of Mikey Beaver, MPS II)
On May 16, 2010, 10 MPS families met at the newly opened Morgan’s
Wonderland in San Antonio, TX. Morgan’s Wonderland is a park
designed specifically with the special needs child in mind. The park is
fully enclosed and upon entering each person receives a bracelet with a
tracking device so that a child can always be found. Every area is accessible
by wheelchair. They have sensory areas for the touch with water stations,
and for hearing with bells and chimes. They have playscapes with a nice
rubber floor and wheelchairs can go up and thru the playscape. You can
take a train ride around the park or walk the trail, with rest stops every
so often that represent a different country. My favorite was the carousel.
Usually when a person in a wheelchair wants to ride something like this,
they might have to transfer to a chair, or if the wheelchair is allowed, it
attaches to the base and just goes around. Here, when I rode with Karina,
they attached her chair to a base and the front part of the base went up
and down so it gave us the sensation that we were riding a horse.
International MPS Awareness Day
What an amazing day we had. We met so many wonderful
people at the Texas celebration and had a fabulous
time. It was so comfortable and relaxing at Morgan’s
Wonderland, not only for me but Mikey as well. It felt like
…life-altering medicine for a weary soul. We came away
feeling new and refreshed. Frustrations, pain, turmoil,
fears and daily tiredness were left at the front desk and
not returned to us upon leaving. Mikey has always been
a very happy soul but on that day he glowed like I have
never seen before.
Mikey Beaver (MPS II)
Hodgkins (MPS II) and Guajardo (MPS III) families
It was great to get together with other MPS families too. We all played for
a while and then met under the pavilion for lunch. Thanks to my sisters,
Toni and Carla Ellard, and my cousin Laura, we received donations from
HEB, Walmart, Sun Harvest and Schlotzsky’s and were able to provide
plenty of sandwiches, chips and fruit. Everyone brought a dessert to
share. We held a small remembrance ceremony with a poem, a song and
a balloon release for our MPS family members who have left us.
All our kids had a great time. It really is a great place to bring any MPS
child. It has to be a good place for MPS families when the park employees
wear purple! We hope to make it our annual MPS Day celebration for
Texas. Thanks to the Society for its support.
Angela Guajardo (mother of Karina, MPS III)
Sydnee Jensen (MPS I) and grandpa
13
Family News
YOU ARE
IMPORTANT
TO US, PLEASE
KEEP IN TOUCH.
Please remember
to let the Society
know if you are
moving. In addition
to helping keep
printing and postage
costs down, you’ll
help us keep our
database up-to-date.
Keep us informed
of new addresses,
telephone numbers,
e-mail addresses, and
any interesting news
about your child.
A Donor’s Story
My younger brother, Sam, was born with MPS I when I was 5 years old. He was diagnosed when he was
9 months old and my parents were told he would need a bone marrow transplant in order to survive.
So while the biggest concern on all of my friends’ minds was starting the first grade, I was worrying
about bigger things.
Upon deciding that a bone marrow transplant was the best plan of action, my parents immediately
had me tested. I turned out to be a perfect match and everyone was thrilled. I understood that this
meant I had a huge chance to help my brother, one that neither of my parents even had. Although I
was never hesitant to do something so wonderful for my brother, I’ll admit I was nervous. I understood
I would be asleep for the procedure, but it was more the waking up part that concerned me. I’ve
never done so well with pain or needles, or hospitals for that matter. After being in and out of
hospitals for months and months with Sam, I had gotten over my initial fear of them. But I was used
to Sam being the one who was poked and prodded, not me. Even as a baby, he was always braver with
that stuff than I was. So come transplant day, I was anxious to say the least.
To my surprise, after only five hours I was awake and out of recovery. The pain that everyone had
warned me about was almost nonexistent. I climbed right out of bed and went to my brother’s room
without a wheelchair. Three hours later I held Sam and watched as my bone marrow was transfused
into him. The next morning, I walked the three blocks from the Ronald McDonald House to the
University of Minnesota Medical Center where Sam then stayed in a filtered room for the next
month. Contrary to popular belief, donating bone marrow is nothing like donating an organ. After
donating an organ, that organ is gone forever. Bone marrow replenishes itself in only a few months.
I encourage everyone to join the Bone Marrow Registry because I know there are many children with
illnesses similar to my brother’s who are not able to receive bone marrow transplants because there
is not a match available to them. I also would like to point out that there is no better feeling than
knowing you played such an important role in saving another person’s life.
Jenna Caswell
Friends Danny Latham (MPS I), Wyatt Blancheri (MPS I) and Braden Farrell
(MPS I) enjoy the National MPS Society family conference.
14
Family News
We would like to thank the MPS Society for purchasing Lucas a cover
for his hot tub. Lucas, while only 3 years old, is unusually far along with
his MPS III, according to Dr. Muenzer (UNC at Chapel Hill, NC). Lucas
is already well into stage 2, so he has a lot of trouble with joint stiffness.
Lucas is in physical therapy and water therapy, but due to his age the
therapy center will not allow him to use their hot tubs. We never knew
how much the hot tub had been helping him until we were no longer
able to use it. The cover we did have was broken and finally came to
the point where it was unusable. With money being tight and the cover
a non-covered item with insurance we were at a loss. Thankfully the
MPS Society was able to get us a replacement. Even the supplier, Rec
Warehouse in Knoxville, TN, helped the MPS Society by selling the cover
at dealer cost. This saved the MPS Society almost half of the amount that
was originally quoted. Lucas has since been enjoying his hot tub daily
and is now starting to gain some of his flexibility back. So again we would
like to thank the MPS Society and Rec Warehouse for helping us.
Lucas Hembree (MPS III) enjoys his hot tub.
Chester and Jennifer Hembree
On Feb. 9 I fell outside of my brother’s house and hurt my right knee/leg. Then I started having
problems with my back and neck. My doctor gave me some steroids which helped, as well as physical
therapy. I also do massage therapy and I love it! My back feels brand new, more flexible. The massage
therapist also is working with me on balance and coordination. I sit on a huge ball and do several
exercises, two minutes each. One is just sitting bouncing on the ball, then lifting my ankle up and
down. Then marching and extending my legs. We also work the upper body. Each time they add new
exercises and have also added a one-pound weight on my arms and legs. I feel stronger and more
flexible. I wanted to share this with others, including those in wheelchairs; I believe this will help
them feel stronger. It also may help younger children to begin exercises now, which may prevent
issues in the future.
Fanny Zambrano (MPS IV)
Jillian, Lindsey and Kelsey Burke (MPS III C)
Clara (MPS III) and Ethan Gibson
15
Family News
I write this in hopes that it may help individuals
or parents of children who have MPS I. We know
MPS presents itself in various ways within the
Scheie category and much more so in the MPS
I category. I want to share my sister’s and my
experience of the manifestation of the condition
of MPS I.
I am the youngest of three children, being born
in 1967. Two of us were diagnosed as having
MPS I when we were around 5 years old.
That diagnosis was made at Dallas Scottish
Rite Hospital. They provided assistance and
knowledge at no cost to my mother. Identifying
what was happening to their children was a great
consolation to my family. I am very grateful to
the Scottish Rite for the free care they give to
children with orthopedic challenges. I have
petitioned and became a member of my local
Masonic Lodge. I also plan to become a Scottish
Rite member.
Around age 4 I went to live with my grandparents
in rural Oklahoma. It was a great place for a
kid to grow up. I climbed a lot of trees and
built several forts and bridges. My grandparents
allowed me to grow up a “normal” boy. I don’t
think MPS weakens the bones. I have fallen
several times out of trees or forts, even had a
pretty bad motorcycle accident, and so far no
broken bones.
I was fortunate to be raised by my grandparents.
They grew a lot of their own food and canned
much of it. They were almost “organic” farmers
before it was cool, as that was the only way they
knew how to do it. We ate good wholesome food
that grandma made with love. I did not have a lot
of soda or candy.
I grew up healthy with very few trips to the
doctors. Many times ailments were doctored by
grandma. She used her homemade salve and
cough syrup and herbs. I think staying away from
doctors and their medicines have contributed to
my quality of life.
My MPS was almost not mentioned growing up.
It was like we pretended it was not there. My
eyesight gradually got worse in high school. I
had to sit in the front row to see the chalk board.
A man from the vocational rehabilitation came
to school to see if anybody needed help with
getting college funding. After some coaxing
from my friends and a teacher I went to talk to
Mr. Carl Dollarhide. He quickly had me set up
an appointment at Dean McGee Eye Institute
16
in Oklahoma City. There we met Dr. J. James
Rowsey. He performed my cornea eye transplant
when I was 18. He was a great doctor. After
the surgery, I remember opening my eye and
really “seeing” the colors around me. It was like
they were fluorescent, bright and clear. It was
amazing. I have never had the left eye done. I
can barely see the big E on the eye exam chart
with it. I think the reason I never had the left
eye done is that the surgery slowed me down
too much. Oklahoma City is a three-hour trip
from here and there were a lot of trips back
and forth. There was a long time I couldn’t do
much bending over and couldn’t lift very much.
I actually do quite well with one eye. I tell people
I am waiting until they can plug in a new eyeball.
Science is making tremendous strides.
The only other eye issue I have experienced is
when my ophthalmologist, Dr. Dennis Curtis,
noticed I had lost some of my peripheral
vision. I still have all of my central vision.
He has watched it and believes the loss has
stabilized. He is another excellent doctor who
stays on top of research. At first he thought my
loss of peripheral vision resembled Retinitis
Pigmentosa, but after researching it he believes
the cells in the peripheral vision should be the
only ones affected by MPS. It was strange how
change happened gradually. I was unaware I
was losing my peripheral vision. When I meet
people I can’t see them extending their hand
for a handshake until I notice a strange look on
their face, then I look down and see their hand.
I also realized how much time I spent looking for
a tool or and screw. Usually the needed item was
right in front of me in my blind spot. Like MPS,
the vision challenge doesn’t limit me much, just
slows me down a little.
Mr. Dollarhide also helped sign me up for Social
Security Income. This helped me to be able to
afford college. Oklahoma Vocational Rehab paid
my tuition, books and fees. I now work for the
Oklahoma Department of Human Services. I
work for elderly and disabled people and love it.
I have been on the other side of the desk and
understand the importance of help offered by
people like Mr. Dollarhide. What he did was very
important in my life.
I always had an outie belly button. I understand
this is another expression of MPS. I decided to get
it fixed, I think mainly for cosmetic reasons. It did
great until a few years later, when I was loading
some heavy rocks into my truck and a hernia
continued
When I was 39, my wife’s 90-year-old grandpa
was helping me cut and nail cedar siding onto
my house. By the end of the day, I was worn
out and grandpa was going strong. I realized
something was not right. I researched MPS on
the Internet and found the National MPS Web
site. The information I found was very helpful.
When I was diagnosed in the early 70s there was
almost no information known. I noticed that
with Scheie’s syndrome there was possible heart
valve trouble. I made a doctor’s appointment,
and sure enough they found my aorta heart valve
was leaking quite a bit. I went to a cardiologist
who strongly recommended replacing the heart
valve; I decided on a metal one. I did research
and decided on the ON-X heart valve, but when
they went for the surgery they discovered an
aneurysm and had to put a Carbomedic heart
valve in as it has a sleeve.
I am doing great with the heart valve. The openheart surgery was no big deal. I have learned to
cope with Coumadin and use a home meter to
test for INR levels. My mitral valve is and has been
leaking some. The doctors absolutely refused to
replace it when they replaced the aorta valve. I
guess that is a big deal to do both at the same
time. So maybe some day the mitral valve also
will need to be replaced. I hope I can get one
of those valves that is grown from your own cells
and don’t have to take anti-coagulants.
One surgery I should have done sooner was the
carpal tunnel surgery. I waited until I was 40 and
by then most of the damage was done and as I
understand it is irreversible. (Of course I know
doctors can be wrong.) This is an incidence
where acting like an ostrich with its head in the
sand was less than beneficial. I now have quite a
bit of weakness in my grip and numbness in both
hands. With this surgery, I would recommend
getting a surgeon familiar and experienced
doing surgery on people with MPS. Again these
challenges just slow me down a little.
MPS I is not who I am. I have done many things
in spite of this condition. I built my own house
from the ground up. I recently totally remodeled
an office building in town. I also have a few cattle
and raise the best beef in the world. It is not
totally organic, but it is wholesome and natural
without any growth hormones or antibiotics, and
the grass they eat has no herbicides or pesticides
on it. People claim it is the best tasting and most
tender beef they have ever tasted.
Family News
torn through beside the repair. I understand you
can have some kind of net placed inside of your
stomach, but I also hear of complications from
that. So I am leaving it alone. A spiritual woman
explained to me once that our navels are where
our Solar Plexus is located. She told me my navel
stuck out because my will is so strong. I believe
that and should have left that surgery off my list.
My sister’s experience with MPS is a little different
than mine. Her knees were more affected, but
my hands seemed more affected than hers. She
had the heart valve replaced but chose the pig
valve. She also had cornea eye transplants in
both eyes. She was on Aldurazyme for about two
years. She told me it was not worth it to try it.
Karen was three years older than me. She died
June 3, 2009. I am convinced the combination of
medication or too much medicine was the cause
of her death. In addition to Aldurazyme she also
was on seizure medicine and pain medicine.
Each person’s experience is different. In my
experience, a diet with a lot of leafy green salads
and fruits feels good to my body. Walking is my
best exercise. I feel good mentally and physically.
I also enjoy sweat lodges. The sweat lodge
cleanses the mental, physical, emotional and
spiritual bodies. If you want to try a sweat lodge
find an Indian elder who doesn’t charge you for
attending. If you can’t find a sweat lodge a sauna
does a good job too.
I am a firm believer that as a person is presented
a challenge in life, we also are given gifts to help
with our challenges. Everyone has challenges in
their lives. People with MPS challenges are more
noticeable than most people.
I would be glad to visit you or your child with
MPS I.
Troy Splawn
Rt.1 Box 1232
Antlers, OK 74523
[email protected]
17
Family News
It took a lot for me to not e-mail every single picture of
Ava at our Make-a-Wish Disney trip, so I tried to include
the ones that displayed the times she enjoyed the most,
in particular when we saw Barney! I have to admit,
I’ve never been star struck until I saw Barney! Ava’s
excitement and smiles literally brought me to tears.
We love her so much and appreciate her life every day.
We love to hear about the experiences and triumphs of
other families. It keeps us motivated and inspired.
Kelli Roessner
Ava Roessner (MPS III)
Luke has maintained over a 3.5 grade average and is a member
of the National Honor Society. He has been involved with clubs
at school, but the one that takes the cake is the Ultimate Frisbee
Team! During high school he participated in two mission trips,
and for more than six years has helped serve meals at the Bishop
Ott Men’s Shelter. After Hurricane Katrina he volunteered every
six to eight weeks for more than three years rebuilding houses
in Mississippi and Louisiana. He is interested in becoming a
biomedical engineer and has been accepted to Louisiana State
University. For someone who doesn’t measure five feet tall, he
has drive and a heart that is beyond measure.
Luke Bosse (MPS VI)
Mignon Bosse
Like all of us with MPS children, we never knew how far we
could stretch, how much we could love, how little sleep we
could survive on, or how many amazing people and blessings
could come to our aid in a time of need. I wanted to share
how much I had learned from my daughter, Dove, who had
MPS I, in hopes of supporting and perhaps even inspiring
others. I wrote my own story called “It’s All a Form of Grace.”
Then I began to collect stories from other mothers who had
their own version of being asked to rise to occasions they
never thought possible, and to grow in ways they could not
previously imagine. All of us ultimately embracing the teachings
brought by our children. During the past two years, I helped
all of these mothers bring their stories into form. I then
published “Fearless Nest/Our Children As Our Greatest
Teachers,” an anthology of 22 essays. If you or someone you
know would be served by reading the emotionally honest
and heartfelt struggle of other mothers and how they found
their way, go to www.FearlessNest.com or send an e-mail to
[email protected].
Shana Parker
18
Shana Stanberry Parker with her daughter
Dove Angela Stanberry (MPS I)
Family News
Jack, Matthew and Tyler (MPS III) Langan
Jake and Sam Slawson (MPS I)
Clay Howard (MPS II) gets the catch of the day!
Opal Dummann with Uncle Sean Dummann (MPS III)
19
Fundraising News
National MPS Society Receives 4-Star Charity Rating
“On behalf of Charity Navigator, I wish to congratulate the National MPS Society on achieving
our coveted 4-star rating for sound fiscal management. As the nonprofit sector continues to grow
at an unprecedented pace, savvy donors are demanding more accountability, transparency and
quantifiable results from the charities they choose to support with their hard-earned
dollars. In this competitive philanthropic marketplace, Charity Navigator, America’s
premier charity evaluator, highlights the fine work of efficient charities such as your
own, and provides donors with essential information needed to give them greater
confidence in the charitable choices they make.
“Based on the most recent financial information available, we have calculated a new rating for your
organization. We are proud to announce the National MPS Society has earned our 4-star rating
for its ability to efficiently manage and grow its finances. Approximately a quarter of the charities
we evaluate have received our highest rating, indicating that the National MPS Society executes
its mission in a fiscally responsible way and outperforms most other charities in America. This
“exceptional” designation from Charity Navigator differentiates National MPS Society from its
peers and demonstrates to the public it is worthy of their trust.”
Ken Berger
President and Chief Executive Officer, Charity Navigator
Sponsor a Child for a Cure 2010—Don’t get left behind!
Fundraising
Committee:
Steve Holland, chair
Ernie Dummann
Steven Frye
Jenifer Gibson
Shane Gibson
Anne Gniazdowski
Tom Gniazdowski
Angela Guajardo
Larry Kirch
Terri Klein
MaryEllen Pendleton
Naureen Sayani
Laurie Turner
Barbara Wedehase
We are excited to launch the Sponsor a Child for a Cure program nationally! If your family has wanted
to participate in a walk/run event to raise money for research we have created that opportunity.
This program reaches out to families and members of the Society that want to sponsor an affected
loved one or a child who has passed away, and help find cures for MPS and related diseases.
Walk/runs across the country will be participating in this program. The event coordinators are ready
for your calls!
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 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 everyone and all the money raised in an upcoming Courage magazine
The Sponsor a Child for a Cure program ran a pilot in 2009 in both the Los Angeles and Boone,
NC, walk/run events. This was very successful and exciting for the families who participated. The
assigned runners were inspired by our heroes of MPS. Together they paved the path of continued
hope. We hope the following stories from a few of our participants inspire you.
continued
20
Fundraising News
“I am not a regular runner like I was in my younger days. I knew I would be attending the walk/run in Boone,
NC, but was unsure which I would do, walk or run. The Society asked me if I would carry a photo of one of
our MPS children as I raced, as they could not attend, and of course the answer was yes! The inspiration of
putting out effort for someone else, though I had not met them, made my decision clear: I would run as hard as
my body would allow. The inspiration was needed at the half-mile, as my legs suggested I quit. Knowing what
my running buddy must go through on a day-to-day basis, quitting was not an option. The race was finished,
mission accomplished! Thanks to my new buddy for giving me the push. I wish I could return the favor.”
Mike Schleter, Minneapolis, MN
Mike Schleter, who ran for Connor David Vanderveen (MPS II), from Alberta, Canada, finished in third place in the age 40–45 5K.
Lauren Hartman, Shire
Pharmaceutical in Lexington,
MA, finished in third place
in the age 30-39 5K.
“The morning of Nathan’s North Carolina Walk/Run was far from
the bright, crisp, autumn-in-the-mountains vision I had of how race
day was going to be; it was damp, chilly and rainy. Although I was
very excited by the opportunity I was given to participate in this
race, I awoke feeling a bit less enthused about leaving my warm hotel
room to run 3.1 miles in the cold rain. That all changed when I was
asked to run on behalf of Madison Dula. When I saw the picture
of that beautiful, smiling little girl, I knew I could do it. Madison
and I were a team and we were going to run together, no matter how
gloomy the weather was! The best part of the whole experience was
after I finished the race when I was able to meet Madison and her
family. Race day may have been a bit gloomy, but my memories will
always be bright and cheery!”
Tonya Price and her daughter Madison Dula
(MPS III), age 8.
Lauren Hartman
Jack Burke ran for his sister, Edie Burke (MPS I), who gained her
angel wings at the age of 9. Jack finished in ninth place overall
and first place in the age 13–19 5K event in Boone, NC.
21
Fundraising News
Ways to GIVE
• Renew your membership or sponsor another family
• Gifts in honor of a special person
• Gifts in memory of a special person
• Matching gifts through your employer (check with your human resource office)
1. Request a matching gift form from your employer
2. Complete the employee section of the form
3. Mail to the Society and we’ll do the rest
• Contribute through the Combined Federal Campaign if you are employed by the federal
government — CFC #0845
• Designate the Society as a member of your local United Way.
You will need to supply them with the Society’s name, address and Federal ID number
(FEIN #11-2734849)
• Annual Fund donation
• Major gift (usually 10 times that of your Annual Fund gift)
• Planned gift
1. Bequest in your will
2. Charitable remainder trust or charitable gift annuity
3. Charitable lead trust
4. Life insurance policy
5. Gift of appreciated assets (stocks, mutual funds and bonds)
• Gifts 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
Fundraising Reminders
• Don’t forget to submit a brief article for Courage about your fundraising success stories and
suggestions—they are terrific resources for other families planning events.
• Check out the fundraising section on the Web site for more information or to post your
event.
• For 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—Casual Dress for MPS, the Annual 5K Walk/Run and the Annual Fund are
great ways to raise money for the National MPS Society.
22
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 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].
The National MPS Society welcomes the White-Harrison family from
Gilbert, AZ.
I’m a single mom and have worked in the daycare
field for 23 years. My oldest son, Michael, is 23
years old and has been in the banking industry
for about five years. Michael is a very outgoing
person; he loves to play basketball and go to the
gym. He is very sociable. He loves his brother and
sister with all his heart. Michael is very supportive
and has a wonderful heart. He has grown up and
become a truly wonderful man.
Justin is my middle son, but we usually call him
Jweezy. He is 16 years old and attends Highland
High School. Justin was diagnosed with MPS IV
at the age of 3. He has such a big personality,
is very outgoing, sociable, and loves basketball
and music. Justin has been assistant manager
with the Highland High School basketball team
for two years. He also is student council treasurer.
Justin is very thoughtful and caring, and loves his
sister to death. After high school, Justin would
like to be involved in basketball or music.
Kianna is the baby of the family. She is 14 years
old and goes to Highland Jr. High School.
Kianna also was diagnosed with MPS IV at the
age of 3. She loves school, shopping, reading,
writing, and hanging out with family and friends.
Kianna is very independent, and sociable when
she gets to know you, very thoughtful, caring and
loves to do things for people. Kianna and Justin
are very close and love each other more than
words can express. They bump heads here and
there but their relationship is strong. After high
school Kianna wants to be a lawyer and make a
difference in the world of justice. She also loves
cake decorating and hopes to pursue it in the
near future. Kianna and Justin are both full of
life and live every moment as if it was their last
because you can only live a day once.
–
Darla
A Warm Welcome
A Warm Welcome
One year ago I got a call from Bridget at Hope
Kids asking if she could she give my number to
Cami, whose son has MPS IV. That day changed
my life forever. Since the kids and I have never had
contact with anyone with MPS IV, it took a couple
of days to grasp the concept that I am not alone
anymore. I contacted Cami and we talked about
her son Trey and his wonderful adventures, and
I told her all the good things Justin and Kianna
have done in their life. A couple months later we
got to meet Cami and Trey and his grandmother.
It was a truly wonderful
day, and a new beginning
to our life. In talking with
Cami I learned about the
National MPS Society. I
feel truly blessed to have
met the Lane family. I
also am blessed to have
met Jerry, Kaylene and
Taylor Willis (Taylor has
MPS), and Maryellen
Pendleton who is aunt to
Nana (Gwen), Justin, Kianna and Darla
Allison Kirch (MPS III).
We hope to attend the 2010 conference in
California so we can meet other MPS families;
those we have met so far are amazing. Together
with family and friends we are going to start
doing some fundraising and spread awareness
of MPS.
I would like to tell parents you are not alone.
Find support groups and talk to people about
what you’re going through. For me, 13 years ago
I didn’t look for support groups, and I think it
would have been better for me and the kids to be
able to talk to people who were going through
the same things. But it is never too late.
continued
23
A Warm Welcome
Thanks to the MPS Society for letting us tell our
story. Special thanks to Terri, Jen, Laurie and
Jocelyn for taking time to talk with me. It has
meant the world to me and the kids that you are
in our life.
To read more about Justin and Kianna go to
www.bigheartsandlittlemoments.blogspot.com.
Upcoming Events
One of the most important members of our
family is our mom, Darla Harrison. She is the
best mom in the world. We love her so much. She
has taught us to be respectful and considerate
of others, and to never be rude or disobedient
toward her or other people. There is no way we
will ever be able to repay her for what she has
done for us. Our mom is the best mom we could
24
have ever dreamed of and we wouldn’t trade her
for all the money in the world. She gave us birth
and from day one we knew she was already the
best. When we were diagnosed with MPS IV she
never put her head down and said she couldn’t
do it, she just showed everyone how strong she
was and no matter what, she would give us a good,
normal life and provide for us. Our mom is the
strongest, most caring, considerate, kind, loving
person, and we are glad we were blessed with a
mother like her. We would like to say thank you,
mom, for everything, and thanks for making us
the wonderful kids we are today. We love you!
–
Justin and Kianna
National MPS Society 2010 Family Conference
Plans are under way for the Society’s 2010 family conference to be held Thursday, Sept. 30, through
Saturday, Oct. 2, 2010, at Knott’s Berry Farm Resort Hotel in Los Angeles, CA. In addition to
presentations from leading researchers and clinicians, interactive workshops will focus on topics our
members have requested. Two additional conferences will be held prior to the family conference:
Celebrating Your Child’s Life Experience (CYCLE) for bereaved families, and Independent Living
for Adults with MPS and Related Diseases. Information and registration materials have been sent to
members and are posted on our Web site, www.mpssociety.org. Mark your calendars now!
Society Plans 2011 Family Conference
The 25th Annual National MPS Society Family Conference will be held July 28–30, 2011, in
St. Louis, MO. The beautiful Sheraton Westport Chalet Hotel is nestled in St. Louis’ impressive
West Port Plaza area, just minutes from some of the city’s most popular attractions. West Port Plaza
offers access to more than 30 restaurants, exclusive shops and entertainment. Save the date to attend
this conference which promises to offer all the updates on research, medical care and topics that
you’ve requested.
Aurora Laorenza
13, MPS I, 2/22/10
3, MPS III, 2/6/10
Heather Dettmer
Mark Stevenson
26, MPS III, 5/15/10
24, MPS II, 3/10/10
Eddie Ducham
Sandra Christine Webb
23, MPS I, 5/10/10
10, MPS III, 4/25/10
Gabriella Michele Giannone
5, ML II, 2/28/10
Eddie Ducham, MPS I
11/13/86–5/10/10
Eddie Ducham: Small in stature, big in impact
It was quite fitting, his mother said, that Eddie Ducham died early Monday evening during his
beloved “Jeopardy!” Eddie, while small in physical stature, greatly inspired the people he met with
his cheerful manner, ever-present smile and handshake. He was 23, and the son of Al and Jean
Ducham of Midland.
Eddie had Hurler syndrome, which meant his bone marrow was missing an enzyme that broke down
sugars. He had a rare marrow transplant at age 2 1/2 that most likely extended his life. Just recently,
though, he was diagnosed with cancer unrelated to Hurler. It is this cancer that took his life.
The happy toddler who grew into a happy adult touched the lives of many people, both locally
and afar. Casey Logdson first met Eddie when they were at H.H. Dow High School. They would sit
together in class, and she looked forward to Eddie’s smiles every day.
“One of my favorite memories with Eddie is when Jean had asked me to watch Eddie while she and Al
went on a date. That was by far one of the best nights I have had. I ended up taking Eddie on a picnic
to a local park and we brought his little CD player to listen to his music. Then we ended up back at
his house to play two hours of shooting hoops (Eddie beat me, of course) and then the night came
to an end with ‘Jeopardy!’ and ‘Wheel of Fortune’ reruns. As I sat there thinking about my life and
thinking about Eddie’s, I realized that Eddie had changed my life for the better.”
Remembering Our Children
Brittany Austin
Logdson touched on two of Eddie’s favorite things: music and “Jeopardy!” In fact, Eddie had been to
the set of “Jeopardy!” twice and met with host Alex Trebek.
New York parents Heidi and Keith Caswell’s son Sam is post transplant for Hurler syndrome, and first
met Eddie 10 years ago at a Hurler conference.
“From the first moment that I held his hand he took a piece of my heart,” Heidi wrote. “Eddie is pure
love and pure joy. Although he was a ‘gift’ given to his parents for too short a time, he has touched
more hearts in his lifetime than most do who live to be very old.”
Eddie, a long-time participant in the special needs program at the Midland Community Tennis
Center, lived in the moment and celebrated every step of the way, said Mike Woody, the center’s
executive director.
“No matter how much you helped Eddie he always surprised you in that you received more in return,”
he said. “His joy and love for life made you smile from the inside out.”
continued
25
Remembering Our Children
Bridget Sullivan, executive director of Railway Family Center in Coleman, talked about how both
Eddie and his family helped educate a community.
“Together, Jean and Eddie showed us that Eddie was special, not because of his disabilities, but
because of his incredible abilities—his attitude, his humor, his loving nature, his ability to teach
people acceptance.”
Eddie would attend Midland Lions Club’s parties with his parents, and that’s how Clint and Sandra
House came to know him.
“In spite of Eddie’s physical issues, he had a contagious, joyous spirit,” the Houses wrote. “He was
affectionate, always enjoying hugs from his family and friends. We have great appreciation for the
way Eddie enjoyed his life in the face of difficulties. He was a brave boy.”
In the late ’80s, Eddie was one of the first children to undergo the rare bone marrow transplant
for Hurler.
“Eddie and our Jonathan were on the same bone marrow transplant floor,” wrote Jonathan’s mother
Pam Dean of South Carolina. “They each had a bone marrow transplant to give them the enzyme
their bodies were missing. Without this enzyme their life expectancy was 10 years. Eddie has helped
pave the way for all of those who have come behind him to live. Without him laying the groundwork
and walking through the protocols for bone marrow transplantation, others would not have been
given the chance that they now have. Because he and his parents took the chance, others are now
living complete and full lives.”
Upon hearing of Eddie’s death, Dr. Chester Whitley, who oversaw his bone marrow transplant at the
University of Minnesota Medical Center, e-mailed the Duchams.
“Eddie was a very, very special young man and his shining face is clear in my mind right now. He—
and both of you—have an indomitable spirit that has served you so well. And this spirit has been
contagious, something that has been felt by many, and that has affected all of us who have known
Eddie. It makes us all want the most out of life.”
Reprinted from Midland Daily News, Midland, MI.
Andrew Jump, MPS III
10/9/97–5/19/09
Andrew Taylor Jump entered into our lives on Oct. 9, 1997. We were so excited and could not wait
for Andrew to be born. We waited seven years to have a baby after we had lost our twins prematurely.
Andrew was the joy and promise we longed for. He was so beautiful and had a smile that was
electrifying. When he giggled it sounded angelic because you knew he was happy. Little did we know
that Sanfilippo syndrome had entered our lives with Andrew. Andrew initially did not let it slow
him down; he was so strong and he gleamed with joy. No matter what type of day we experienced,
Andrew would stare into our eyes and smile that beautiful smile. He made us realize that nothing else
mattered and to cherish the time we had together.
Andrew Jump (MPS III)
Andrew was not just my son, he was my best friend. I was honored to be his father and to be his
comfort. I would love to hold him in my arms and just stare into his eyes. Andrew had to succumb
to more pain than I would wish upon anyone. Even though Andrew became nonverbal he was able
to communicate what all of us take for granted. Love is strong and cannot be defeated by Sanfilippo
syndrome or any other form of kryptonite. Andrew taught Paulina and me how valuable life is and
that is why he will always remain our Superman. We love you and miss you so much, Andrew.
Daddy, Mommy and Alexander
26
Remembering Our Children
Susannah White, MPS I
4/15/99–7/24/08
Three Feet of Sunshine
Remembering Susannah and sharing a ray of her sunshine in celebration of her 11th birthday
by
Allie Bergeron
I was 13 when it finally hit me. Life isn’t fair, life
has never been fair, and life is never going to be
fair. I’d been told this since I was younger but
I never really applied that statement to my own
life. Bad things didn’t happen to good people
was how I saw it. That made more sense anyway.
What I still cannot make sense of is why someone
so good would be taken so fast.
Life is like a lake, not a box of chocolate. This
is not to say that I don’t believe you never know
what you’re going to get. But life is so much
more than that. In this lake there’s knowledge
and peacefulness but there is also turbulence,
currents and creatures just waiting to pull you
down to the bottom. Our goal: to make it across
the lake. At 9 years old you would guess someone
to be about waist deep. Susannah wasn’t just
waist deep. She had swum across the lake, to its
depths, around the lake and to the other side.
Susannah suffered from a disease, the treatment
for which had completely destroyed her immune
system. The common cold that we pass off as
part of our everyday life could have killed her.
Everyday activities posed an extreme risk. Just
being outside required her to wear a facemask.
Before going inside her house, shoes were to
be taken off, and hands thoroughly cleaned.
Walking up to her door I remember a bucket
filled to the top with mismatched and colorful
shoes, and a sign on the door requesting
everyone to wash their hands and not enter
if they had been sick recently. Multiple bone
marrow transplants and many years at the
hospital couldn’t help her. She was 9 years old
but she looked 3. She didn’t speak much so she
communicated through sign language, grunts
and her signature stance. Her stance consisted
of her hands on her hips and stomping her foot,
this meant she wanted something, or just felt
like being sassy. Susannah was strong; she had
looked death in the face quite a few times and
won. She had seen pain and suffering firsthand.
She didn’t get outside much, but when she did,
she embraced nature; she loved it. She never
took anything for granted; every hamburger or
every bite of chocolate ice cream was a gift, not
a necessity. She looked at everyone, no matter
what race, with equality. Susannah was the most
nonjudgmental person I have ever met.
Being with Susannah, I quickly learned her rules,
which I now apply to my own life. Rule One: Be
organized. Susannah always had a list. She would
hold out her fingers and count while you named
what we were doing, in that order. You had to
repeat this several times before she was sure of
exactly what she would be doing that day. Rule
Two: Be persistent. If you promised Susannah
something, she reminded you until you followed
through. When she wanted to swing, she would
make the sign for swing over and over until
you took her outside. Rule Three: Be inclusive.
Susannah wanted everyone to play, no matter
how big or small. Baby dolls, stuffed animals, and
real animals that often weren’t supposed to be let
out of their cages were invited to play with her.
I remember the miniature kitchen set she had
in her playroom. Susannah loved to “cook” and
have “dinner parties.” Barney, Big Bird, Ben the
Baby doll, and various American Girl Dolls were
some of the regulars invited to these events. Rule
four: Be yourself. If Susannah wanted to wear a
swimsuit or her tutu that day, she did, even if it
was the middle of January. In her opinion you
didn’t need a special occasion to wear a princess
crown. Everyone wanted her perspective on life.
Everyone wanted her innocence, absolute joy
and simplicity. People seemed to revolve around
her as if she was the sun. And she was in her own
way, our Three Feet of Sunshine.
On July 24, 2008, Susannah won. She beat her
disease and is now no longer in pain. Even
though I cannot make sense of it or find the
fairness in it, I know she’s in a place that suits
her much better, a place where she can always be
happy. A place where she belongs.
Susannah White (MPS I)
This piece is dedicated to Susannah Jacqueline
White, and all who knew her.
Allie Bergeron and her family were Susannah’s neighbors and very special friends during the time the Whites lived
in Dallas. From the day they met, the two girls formed an instant and incredible bond. In tribute to Susannah,
Allie wrote Three Feet of Sunshine as an assignment for her 9th grade English class; she, of course, earned an A.
27
Remembering Our Children
Mark David Stevenson, MPS II
1/4/86–3/10/10
Mark David Stevenson was born Jan. 4, 1986, in Fort Smith, AR. At the age of 1, he and his family
moved to Richfield Springs, NY. While living there, Mark was diagnosed at the age of 3 with Hunter
syndrome. During this time Mark began early childhood intervention school in Herkimer, NY. At
the age of 4, Mark underwent a bone marrow transplant at Children’s Hospital of Philadelphia, a
procedure that helped to halt the effects of this disorder. At the age of 7, he and his family moved to
Leighton, IA, and Mark enrolled in the Pella Community School system until the age of 21, with the
exception of four years, during which time he was part of the Newton Community Schools.
Mark enjoyed life to its fullest, given his limitations. He loved biking, walking, cruising, watching
his favorite videos over and over, and puzzling. He had a zest for life and enjoyed life in its simplest
pleasures. For several years he participated in Special Olympics in Ames and Des Moines, doing well
in biking and bowling. Mark was a baptized member of the Second Christian Reformed Church in
Pella. His favorite song was “Jesus Loves Me.” Mark enjoyed people and people enjoyed interaction
with him.
Mark went to be with Jesus on March 10, 2010, at the age of 24. He will be sorely missed by his father
and mother, David and Ruth, and his older brother, Joel.
Including Me
My Lord Jesus, He just lifted His head,
He just lifted His head,
He just lifted up His head,
My Lord Jesus, He just lifted up His head
And saw all mankind, including me,
Including me, including me!
My Lord Jesus, He just lifted His hands,
He just lifted His hands,
He just lifted up His hands,
My Lord Jesus, He just lifted up His hands
And blessed all mankind, including me,
Including me, including me!
My Lord Jesus, He just lifted His cross,
He just lifted His cross,
He just lifted up His cross,
My Lord Jesus, He just lifted up His cross
And saved all mankind, including me,
Including me, including me!
by Canadian composers
28
Margaret and George Drynan
Mark Stevenson (MPS II) with his mother, Ruth
We were honored to be invited by BioMarin
to attend the National Organization of Rare
Disorders gala award ceremony recognizing
significant performance, therapies and treatment
breakthroughs in 2009.
Special thanks to all who attended the meeting,
including Ernie and Debbie Dummann, Jeff
Bardsley and Barbra Wedehase. Thanks also
to our Policy with Partners members who did
a great job contacting their congressional
delegation before our meetings, making our job
very easy. If you’ve ever thought about going to
Washington, DC, to meet with policy makers and
tell your MPS story, we are offering a drawing
for someone to accompany us later this year.
To enter, send your name to Naureen Sayani at
[email protected] or a written request to
PO Box 14686, Durham, NC 27709-4686 (must
be postmarked or e-mailed by July 20, 2010).
The winner will be notified on Aug. 1, 2010.
Legislative Update #51
policy makers to hear directly from an affected
individual about the challenges of living with
an MPS disease, explaining why, through his
eyes, we need increased funding for the NIH
and the FDA for effective treatments and cures.
We sincerely appreciate his commitment to our
membership.
May 2010
On our recent trip to Washington, DC, volunteer
Legislative Committee members spent three days
calling on offices within the National Institutes
of Health (NIH) and members of Congress.
Our visits concentrated on advocating for
several of our membership priorities, including
the Society’s support for full funding of the
Cures Acceleration Network, a more specialized
drug review office within the U.S. Food and
Drug Administration (FDA), and a $98 million
increase for the Lifespan Respite Care Act that
will help provide much needed respite for MPS
family members. Also discussed was a $10 million
appropriation to build the human, scientific and
organizational capacity necessary to evaluate
products targeted to rare diseases at the FDA,
and establish a new Division for Biochemical and
Genetic Diseases within the Office of New Drugs.
This will facilitate an improved regulatory
process for rare diseases. We also are in support
of the creation of a Rare and Neglected Disease
Caucus. To help move our agenda forward we
concentrated our efforts on the Appropriations
Committee. We had a total of 23 meetings in
this short time and were delighted to hear so
much support from congressional members for
MPS priorities. One of our volunteers was Jeff
Bardsley who has MPS. It was wonderful for the
Cures Acceleration Network (CAN)
The National MPS Society, like many other disease-focused organizations, is concerned about the
lack of therapies that reach the stage of clinical testing, and the even smaller number of therapies
that ultimately are approved by the FDA and are made available.
Your Society supports CAN, legislation written by Sen. Arlen Specter (D-PA), which was signed into
law with the passage of the Patient Protection and Affordable Care Act (Section 10409) this past
March. This is a new position that would give the NIH additional flexibility to push translational
therapies in a more robustly, innovative and expedited way. However, even though this became law,
it has not been funded. Thanks to our many Policy with Partners members, your board of directors
and staff who sent e-mails, faxed letters and made phone calls that resulted in a hearing on April 28
with members of the Senate and Francis S. Collins, director of the NIH.
Following is an excerpt of Dr. Collins’ testimony to members of the Senate:
“I think CAN is a very exciting idea. The institute directors will all be gathering for a retreat to
talk about this, because this is an opportunity in a very flexible way to try to push forward new and
exciting approaches to therapeutics. The idea here is, as authorized but not yet appropriated, to
provide large grants that include participation by public and private sector partners. It includes
some flexible research authority to allow us in a DARPA-like fashion to move such projects forward
rather quickly. And if appropriated at a reasonable level, it would allow multiple projects to go
forward simultaneously with project managers who are authorized to both bring in resources when
you need it and to kill projects that are failing, which is critical in this high-risk area as well. I think
from my perspective as a physician who’s anxious to see therapeutic successes come forward, this is
a mechanism that we very much need and hope to be able to utilize.”
Go to
www.mpssociety.org
to read the Society’s
legislative priority
talking points. As
always, contact
any member of the
Legislative Committee
with questions about
how you can help and
advocate for all who
experience MPS.
29
Legislative Update | May 2010
New Division for Biochemical and Genetic Diseases
The National MPS Society, along with 111 patient and professional organization partners, is
advocating for resources to provide a new, more specialized FDA drug review office focused on
streamlining the development path for rare biochemical and genetic diseases. We have requested
a $10 million appropriation to build the human, scientific and organizational capacity necessary to
evaluate products targeted to rare diseases at the FDA to establish a new division for biochemical
and genetic diseases within the Office of New Drugs. There are more than 7,000 rare disorders that
together affect more than 25 million Americans and their families. In the last 25 years, less than
5 percent of these disorders have a treatment approved for marketing by the FDA. Treatments for
many of these diseases may never be developed because of roadblocks in the development process,
such as a lack of investment and a challenging regulatory environment. The FDA will hold hearings
on June 29 and June 30; the Society has sent written testimony of its support.
Rare and Neglected Disease Caucus
Legislative
Committee:
Ernie Dummann, chair
Steve Chesser
Jennifer Clarke
Debbie Dummann
Steve Holland
Terri Klein
Dave Madsen
Austin Noll
MaryEllen Pendleton
Laurie Turner
Barbara Wedehase
Kim Whitecotton
30
While in Washington, we encouraged members of Congress to join the formation of the Rare and
Neglected Disease Caucus to help address specific issues related to developing treatments for rare
diseases. The papers were filed on May 18, 2010, and two members of Congress have signed on:
Rep. Joseph Crowley (D-NY) and Rep. Fred Upton (R-MI). We are still looking for two senators to sign
on. The Society investigated whether to have an MPS Congressional caucus, but felt that our Society
would benefit from joining with other disease organizations. Thanks to the Kakkis EverydayLife
Foundation for moving this forward.
Screening Your Candidates for Fall 2010 Election
Mid-term elections will be Nov. 2, 2010, with at least 36 out of 100 seats in the Senate, and all House
seats up for election. Many of these senators, representatives and other candidates will be in their
own states during the month of August and on weekends throughout the summer visiting their
constituents. There will be a number of forums: town hall meetings, debates, picnics, or call to
meet and have a one-on-one conversation. This is a perfect opportunity for you and your family to
be active in deciding who is the best candidate on issues that are important to our MPS families.
Whenever possible, take your MPS child and thoughtfully tell your candidates what is important to
your family, whether it be special education, increased funding for the NIH, funding for respite care,
Medicaid funding, and/or streaming the protocols with the FDA to expedite effective treatments.
Or all of the above. If you are able to meet with your candidates, be sure and do some follow-up
correspondence to reiterate issues of importance. Opening the lines of communication can prove
to be very effecting when your Legislative Committee calls on members of Congress. If you have
questions, please contact any of the Legislative Committee members or call the MPS office.
Legislative Update | May 2010
NIH Receives $1 Billion Boost in 2011 Budget
A $1 billion boost for the NIH announced in the 2011 budget quelled fears that President Obama’s
proposed non-security discretionary spending freeze would decrease budgets at federal science
agencies. Numbers released from the White House’s Office of Management and Budget tells of slight
increases in the budgets for the NIH. To see President Obama’s FY2011 budget request in its entirety
go to www.Whitehouse.gov/omb/budget/fy2011/assets/budget.pdf.
Senate Resolution 528 — National MPS Awareness Day
Thanks to Sen. Lindsey Graham (R-SC), Colin Allen and Leigh Ellen Lybrand for their successful
passage of S.R. 528 recognizing May 15, 2010, as National MPS Awareness Day. Although originally
reported as S.R. 530, when recorded, the actual resolution is 528. This day was envisioned to honor
and remember those with MPS and related disease while conveying knowledge and understanding
to members of our local community, state and our elected officials in Congress. Thank you notes
were hand-delivered to the following senator’s who co-sponsored this resolution: Sen. Mark Begich
(D-AK), Sen. Kent Conrad (D-ND), Sen. Daniel Inouye (D-HI), Sen. Lisa Murkowski (R-AK), Sen.
Richard Burr (R-NC), Sen. Byron Dorgan (D-ND), Sen. John Kerry (D-MA), Sen. Bill Nelson (D-FL)
and Sen. Arlen Specter (D-PA). Sincere thanks to all who contacted their senators to co-sponsor.
Ernie and Debbie Dummann with Colin Allen and Leigh Ellen Lybrand, staff from
Sen. Lindsey Graham’s office (R-SC)
31
Legislative Update | May 2010
New National Health Reform Law Helps
MPS Patients Keep Insurance
The historic healthcare reform laws of 2010 (Accountable Care Act or ACA) will provide many
health insurance protections for MPS patients. Implementing the provisions included in both
The Patient Protection and Affordable Care Act (March 23, 2010), along with improvements
from the Health Care and Education Affordability Reconciliation Act of 2010 (March 30, 2010),
represent a huge undertaking for the government. The National MPS Society is committed to
ensuring that MPS patients take advantage of the full benefits of this important law.
The law will be implemented over several years, but some important provisions that help MPS
patients keep their insurance become effective later this year. These include:
• Elimination of lifetime caps: By October 2010 insurance companies may not establish
lifetime dollar benefits for essential health benefits.
• Elimination of retroactive insurance cancellation (a.k.a. “recissions”): By October 2010,
insurance companies are not permitted to retroactively cancel insurance.
• Dependent coverage of children to age 26: Starting in September 2010, insurance plans that
offer dependent coverage must extend that coverage to dependants up to age 26. In some
cases, the effective date is the date of the first open enrollment period after September
2010. Many insurance companies have already adopted this requirement. Check with your
insurance company for more details.
Other important provisions of the new law are focused on creating new insurance opportunities
for patients and making health insurance more affordable. The MPS Society will keep you
informed of key changes as details emerge.
32
Walking with a purpose
Area student raising awareness for MPS
After watching a fatal disease cripple her family, an area teenager is hoping to raise awareness so
families won’t have to feel the negative effects of the disease in the future. Emily Durcholz, 17, Brazil,
has organized a fundraising walk to raise awareness for Mucopolysaccharidosis (MPS), a genetic
disorder medicinenet.com refers to as “one of a series of inherited metabolic disorders affecting a
type of complex carbohydrate called mucopolysaccharide that is deposited in body tissues because
the person lacks the specific enzyme needed to metabolize it.” Those inflicted with the disease are
unable to produce any of the necessary enzymes needed to function and eventually stunts many major
abilities, including mental development. Emily is the daughter of Chris and Annette Durcholz.
The disease has been a constant source of pain for the family, who lost their 11-year-old son, Zach, to
MPS III, or Sanfilippo, in 1998. Sanfilippo is a neurological disorder which can lead to, among other
things, hyperactivity, dementia and seizures.
Making Headlines
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!
The nightmarish situation arose again for the family with the birth of their fifth child. Ben was also
born with MPS III. Ben, 8, is not expected to experience a longer life than his late brother, as people
with MPS generally don’t live beyond their early teen years.
Hoping to raise awareness for the disease, Emily, a junior at Northview High School, is organizing an
MPS walk, “Beat It For Benny,” which she plans to conduct at Deming Park, Terre Haute, Sept. 25. It
is one of several MPS walks being conducted all over the country throughout the year.
Durcholz said she saw the walk as crucial not simply for her family, but for anyone who may experience
the hardships she and her family have experienced with the ailment.
“This walk is for everybody,” she said. “For people like my brother, the damage is done. The goal is to
raise awareness to as many people as possible.”
With the official walk date still more than five months away, Durcholz said most of the specifics in
terms of planning are still in the preparatory stages. Currently, she said she is focusing on collecting
donations. Thus far, she has received portions of money independently from friends and family, but
is hoping to bring them in from all over the area as “Beat It For Benny” draws closer. All told, she said
her collection goal is $5,000.
All of Emily’s efforts have earned her great admiration from her family members who have endured
the same MPS hardships she has. Her mother, Annette, said she is “very proud” of her daughter and
was very happy to see her take such as interest in raising awareness for the disease.
“(Emily) has spent countless hours of her own free time to try to help make a difference in the lives
of MPS kids and their families,” Annette said. “She has seen first-hand the devastation MPS causes to
kids and their families and the fact that she wants to help change that is remarkable.”
Durcholz urged anyone interested to donate to the cause. She stressed that if properly funded,
medical centers could not only begin to cure MPS, but similar neurological diseases such as Pompe
disease. More than anything, Durcholz said her goal was to raise awareness so as to offer assistance to
future victims, whose quality of life is greatly damaged by their unfortunate circumstances.
“Finding a cure for MPS is very crucial in my mind,” Durcholz said. “It halts children. My brother can’t
enjoy his childhood. If people can ban together for a cure, I really think they should.”
© Copyright 2010 Brazil Times. Reprinted with permission.
33
Making Headlines
ABC News, as part of its Good Morning America program, recently aired an in-depth interview with
the Bellontine family, whose daughter, Grace, has MPS III. The interview also featured Dr. Gregory
Pastores, assistant neurology professor, NYU Langone Medical Center. To see the segment, go to
http://abcnews.go.com/Health/video/graces-story-10012107&tab=9482931&section=1206835&pla
ylist=3547557&page=1.
Following is an excerpt from an article that appeared at HealthyRockford.com, April 22, 2010. Written by Mike
DeDoncker. To read the complete story, go to www.healthyrockford.com/health/forwomen/x932351640/
Roscoe-mom-runs-to-cope-with-young-daughter-s-illness.
Roscoe mom runs to cope with young daughter’s illness
Kelly Hubert has her best thoughts while she’s running. She’d rather not have the ones that creep
in on her when she’s able to sit quietly at home. That’s when she has the chance to think about her
oldest daughter, Livia, who is here on borrowed time and how the 3-year-old’s fatal genetic disease—
Sanfilippo syndrome—might work its final devastation on her.
“My husband, Jake, and I had always been very into fitness,” Hubert said, “but for some reason, I was
just driven to start running after the diagnosis. I found that when I ran, I was able to find this focus
and determination inside me.
“It’s when I have my best ideas and I’m the most focused, and it has brought back a little bit of control
in my life because I’ve lost the ultimate control with her diagnosis. The endorphins kick in, and it’s
the drug that helps me through the day.”
Allison Restemayer (MPS I) was featured on KXMB TV, Bismark, ND, when she participated in a
fashion show, the proceeds of which went to the Make-a-Wish foundation. To read the story or view
the video, go to www.kxnet.com/getArticle.asp?ArticleId=546652.
Case Hogan, 3, (MPS II) recently was featured by the Columbia Daily Herald, Columbia, TN.
34
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. This award was created by Denise Dengel,
an adult with MPS I, who knows the daily struggles of living with MPS and
envisioned an award to honor the individuals who also battle MPS each and
every day.
We give a standing ovation to:
Peggy Shipley, MPS I
Jeffrey Bardsley, MPS II
Jeffrey Bardsley is a 23-year-old recent graduate from the
University of Richmond in Richmond, VA, where he currently is
finishing his master’s of accountancy degree. He was born and
raised in McLean, VA, and has an older brother, Edward, who
lives in California. Jeff has been receiving Elaprase® infusions
since the phase I/II clinical trials approximately 10 years ago.
He has found enduring support in his family and friends who
have helped make living with a genetic disorder a non-definitive
factor in his life. Whether he is out and about with his friends
in Washington, DC, or just relaxing with a good book, he
refuses to let Hunter syndrome significantly impact his life.
After graduation this spring, Jeff plans to pursue a career as a CPA working in the Washington, DC,
area. He also looks forward to becoming more active in his work with the MPS community, biotech
industry leaders and organizations like the MPS Society, as a patient advocate working to ensure that
innovative new therapies continue to reach patients and that the voices of young adults living with
rare genetic diseases are heard.
Standing Ovation
Let’s Give a Standing Ovation To…
Jonathan Fischer, MPS III
Jonathan is 37 years old and has MPS III A. He has far exceeded
the life expectancy as laid out at the time of diagnosis; this is
probably his greatest accomplishment. He remains in good
health and lives at home with his mom and dad, with mom being
able to provide 100 percent of his care.
As a child, Jon loved watching Magnum PI, Knight Rider, Dukes
of Hazard and the Flintstones. He loved to be read to and listen
to music, Elvis Presley being one of his favorite singers. Jon
has settled down now and even though the TV is on he rarely
indicates he is aware of what is on. Jon is still able to enjoy eating
his favorite foods: McDonald’s cheeseburgers and fries, pizza,
and macaroni and cheese. Jon has the ability to make every day
a good day.
35
Standing Ovation
Kamiel Booth, MPS IV
Kendra Gottsleben, MPS VI
I am a little social butterfly, so spending time with people is
one of my most favorite things to do. I love to talk with people
about pretty much anything. I tell people I am an open book
and do not feel afraid to ask questions. I believe that if we as
people do not ask questions then it makes learning about others
much more difficult. The key individuals in my life are my family
and friends. I have been supported in all my goals, dreams and
accomplishments by these wonderful people. I could not ask
for a better support network. I am extremely lucky to have such
incredible people in my life. There is always someone to call
when I need help or advice.
I also like to be creative while working on projects on my computer, such as movie slideshows, making
brochures, business cards and advertisement flyers. Doing these projects is a lot of fun because I
start out with nothing but a blank canvas and end up with a cool finished project. I make movies for
graduations, weddings, anniversaries and other events. I also have made advertisements for friends
who have started small businesses.
The greatest thing that makes me happy is when I can make someone smile and laugh if they are
having a bad day, or just on any regular day. I know how awesome it feels when someone takes time
out of their day to say “Hi” or to just stop to say “How is your day?” I also believe humor is key to a
healthy life. I have laughed at myself many times for some silly thing or another and if you cannot
laugh at yourself then what can you laugh at? Helping people in any way I can is my goal in life. I feel
that my life experiences should not go to waste, and if I can pass it on for others then great!
Throughout my life I have encountered road blocks and at that point I have had to make a decision
in what to do. Either I turn around and stop going that direction, or I figure out a new route to get
to the other side of the road block. For people who truly know me, the first option of stopping in the
direction I am going to turn around is not a choice for me. I do not let many people or situations
deter me from where I want to end up. This does not mean the road has always been easy going for
what I want, but the true me never gives up. Life has challenges but those difficulties are what make
us who we are.
My proudest accomplishment is having people say to me that even though they are not in a
wheelchair, as short as me, or have a medical condition, they feel like they can relate to me. To me
that makes me proud because it means that people can see we all have differences, but at the same
time similarities. It doesn’t matter what issues we have in life, we can always make connections with
others. I also am proud of myself because I will soon be a college graduate from Augustana College
with a double major in sociology and psychology.
Ganesh Somarouthu, MPS VII
Megan Rust, ML II
36
National MPS Society Executive Director Barbara Wedehase attended the Brains for Brain meeting
held March 5–7, 2010, in Frankfurt, Germany. Brains for Brain, a task force of experts in the different
fields of neurosciences, began in 2006 to maintain contact between basic scientists and clinicians, with
the aim to develop innovative therapeutic strategies to overcome the blood-brain barrier.
Why is Brains for Brain needed?
• to promote collaboration between MDs and PhDs
• lysosomal disease (LD) researchers are under-represented in research programs
• LDs are great models for pediatric neurodegenerative diseases
• allows for genuine pan-Europe/USA collaboration
• collaborations within the lysosomal advocacy organizations
• strong interest among pharmaceutical companies
The task force takes advantage of the expertise of the most distinguished European scientists and
leaders in basic and applied neurotechnology, and neurology grouped together to create a coordinated
effort toward the comprehension of pathophysiology processes of neurological disorders in LDs, the
implementation of knowledge of the blood brain barrier, and the development of new molecular
and/or biochemical strategies to overcome the blood brain barrier to treat these central nervous
system (CNS) disorders.
“We still do not know whether storage of mucopolysaccharide is really the “primum movens” of the metabolic
disaster or rather other processes might be more important (inflammation, alteration of ion channel activity,
lack of chaperone molecules, etc.). The understanding of these basic aspects might be extremely valuable to
unravel why most of the LDs have an attenuated and a severe form, some with and without CNS
involvement, although the relative loss of enzyme activity may be similar.”
— from the Brains for Brain Web site (www.brains4brain.eu/)
The scientific sessions included pathophysiology and LDs, blood brain barrier and pathophysiology,
crossing the blood brain barrier and therapeutic options, biotech and advocacy collaborations.
The National MPS Society is proud to support the work of Brains for Brain. During the meeting,
Barbara gave a brief overview of the mission and programs of the National MPS Society, and announced
its 2010 financial support of $15,000 for Brains for Brain.
Clinical Trial of Human Growth Hormone
A clinical trial of human growth hormone (HGH) is being conducted at the University of Minnesota
Children’s Hospital. Children with MPS I, II or VI with short stature are invited to participate. HGH is
a U.S. Food and Drug Administration-approved treatment for short stature, however there is no data
at this time on using this treatment specifically in children with MPS. The goal of this clinical trial
is to determine what, if any, effect HGH has on growth velocity, bones, and cognitive functioning of
children with MPS I, II and VI.
For additional information contact Lynda Polgreen, MD, assistant professor, University of Minnesota,
Pediatric Endocrinology, at 612.624.4459 or [email protected].
MPS III patients needed for research study
Research News: Hope for the Future
Society plays role in global taskforce Brains for Brain
This research project will focus on how the immune system is affected in patients with MPS III A or B.
A blood test will be done to measure blood cell count. To participate, patients must:
• be less than or exactly 20 years of age with a confirmed diagnosis of MPS III A or B
• not use medications that suppress the immune system at time of enrollment
• not have respiratory, urinary or other infections at the time of enrollment
The study will take place at your local healthcare provider’s office or at The Research Institute at
Nationwide Children’s Hospital, Columbus, OH. For more information and to make an appointment,
contact Chelsea Rankin at 614.355.2897 or [email protected].
37
Research News: Hope for the Future
Clinical Trials
MPS I
MPS I Intrathecal Enzyme
Replacement Clinical Trial for
Cognitive Decline
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 our ability to think
and learn. Difficulty with thinking, memory,
language, concentration and decision making
are some signs of cognitive decline.
To be eligible for this study, you or your child
must be willing and able to comply with the study
procedures and meet certain criteria:
• 6 years of age or older
MPS I Intrathecal Enzyme
Replacement Clinical Trial for
Spinal Cord Compression
The Los Angeles Biomedical Research Institute
at Harbor-UCLA Medical Center in Torrance,
CA, is conducting a study of intrathecal enzyme
replacement therapy (ERT) for spinal cord
compression 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 spinal canal (called
intrathecal injection) can help reduce spinal
cord compression due to MPS I and can provide
an alternative to surgery.
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:
• 8 years of age or older
• diagnosed with MPS I
• diagnosed with spinal cord compression
Study participants will have:
• up to 16 intrathecal ERT treatments given
one to three months apart over one and a half
years; and
• diagnosed with MPS I
• physical examinations (general and
neurological);
• show evidence of cognitive decline on a
screening evaluation
• other diagnostic tests; and
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 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.”
• reimbursement/payment of travel expenses.
Study centers other than at Harbor-UCLA may be
available.
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. Patricia Dickson
310.781.1399
[email protected]
If you are interested in this study or would like
more information, contact:
38
Dr. Agnes Chen or Dr. Patricia Dickson
310.222.4160 or 310.222.4145
[email protected] or [email protected]
continued
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. “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 ElapraiseTM,” said Joseph Muenzer, MD,
PhD, principal investigator for the clinical trial.
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 iduronate2-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. The monthly
intrathecal administration of idursulfase-IT
will be given using a Port-A-Cath® II Low
ProfileTM 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
needs to have some developmental delay, but
cannot 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 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.
If you are interested in obtaining more
information about the clinical trial, please
contact Dr. Joseph Muenzer at 919.966.1447 or
the study coordinator, Heather Preiss, RN, at
919.843.5731 at the University of North Carolina
at Chapel Hill, NC.
MPS III
Shire Pharmaceuticals Group, as part of its
research to evaluate new approaches to the
problem of treatment of the central nervous
system, is hoping to move its MPS III A program
forward. If the trial to directly administer the
enzyme into the central nervous system of
individuals with MPS II is successful, Shire hopes
to expand its research initiatives to include
MPS III A. The Shire Web site is www.shire.com.
Research News: Hope for the Future
MPS II
MPS IV
BioMarin will be conducting a Morquio Clinical
Assessment Program or MorCAP that will
involve about 15 centers in many countries and
will evaluate the disease situation for patients
globally. Finally they expect to have a phase
III double-blind placebo controlled study that
might include 50–100 patients from many
centers. Being in the MorCAP program will
improve a patient’s chances of being in the phase
III. Additional information can be found at
www.morquioBMRN.com.
MPS VII
A gene therapy clinical trial for MPS VII, also
known as Sly syndrome, has been put on hold
pending additional data.
ML II/III
There currently are no programs in place for
developing treatment options for ML II/III.
39
Research News: Hope for the Future
Treatment Therapies
MPS I
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.
Additional information can be obtained at
www.aldurazyme.com or by contacting Genzyme
at 800.745.4447.
MPS II
ElapraseTM 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].
Surrogate Endpoint Trial (SET) for individuals
with MPS III A
Sponsored by Shire Human Genetic Therapies
SET is a one-year, multi-center study designed to study the natural progression of Sanfilippo A
syndrome, or MPS III A, in approximately 20 patients. During a period of 12 months participants
in the study will be evaluated to assess the severity and progression of MPS III A, as measured by
developmental age and milestones, central nervous system function (including cognition, speech and
motor skills) and biochemical markers of the condition (levels of heparan sulfate and its breakdown
products in blood urine and cerebrospinal fluid).
Additional information can be found at www.clinicaltrials.gov (identifier NCT01047306), or contact:
Shire HGT Medical Information, 484.595.8850, [email protected]
or
Amy K. Fisher, MS, CGC, Shire HGT Global Medical Affairs, at 857.413.9553 or [email protected].
40
In 1995, Cerner Corporation, a leading supplier of healthcare information technology, founded the
First Hand Foundation. A nonprofit organization, First Hand assists individual children with healthrelated needs when insurance and other financial resources have been exhausted.
The Foundation helps with clinical necessities (such as medication and surgeries), medical equipment
and travel related to a child’s care. Additionally, the Foundation implores doctors, hospitals and
equipment providers to discount their services below listed prices. Funding is distributed directly to
the child’s immediate healthcare provider.
Since inception, the First Hand Foundation has distributed $10 million to 85,000 individuals in
66 countries.
For more information or to apply for funding, go to www.cerner.com/firsthand.
Twist ‘n Write Penagain Pencil
makes writing easier for kids
TM
The Twist ‘n Write pencil is a new model specifically designed to fit smaller hands and bring back the
fun in writing. A thick 2 mm pencil lead never needs sharpening. The wishbone shaped design forces
the school-taught “tripod” position. It is great for those with special needs (carpal tunnel, arthritis,
ADHD and many more). It is being sold at Staples, Walgreens, Office Depot, CVS, Office Max and
Amazon for less than $2.00. For more information, visit www.penagain.com/twistnwrite.html.
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.
Hunter disease e-clinic
Hunter disease e-clinic is a virtual training clinic, designed specifically for the purpose of learning to
diagnose and manage patients presenting with characteristic of rare genetic metabolic diseases. For
more information, visit www.sickkids.ca/lysosomalresearchgroup.
Resources | Helpful Information
First Hand Foundation strives to change children’s
lives around the world, one child at a time
The Miracle League
The Miracle League is an organization that affords children with disabilities the opportunity to play
baseball. Players are paired up with a buddy and everyone has a chance to play—batting, running the
bases, etc. Even children without the use of their arms or legs can participate. The Miracle League
has more than 200 leagues across the country, as well as Puerto Rico, with 100 specialized rubberized
fields (for safety) and 100 fields under construction. It serves more than 80,000 children and young
adults with various disabilities.
For more information, visit www.miracleleague.com, call 770.760.1933, or send an e-mail to
[email protected].
41
Resources | Helpful Information
MPS I Web site
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.
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.
42
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.
MPS IV Registry
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.
www.fda.gov/cder/drugSafety.htm
The U.S. Food and Drug Administration (FDA) has
added a new feature to its Web site that provides
consumers with specific safety information about
individual drug products. The new Drug Specific
Information Web page presents information on
more than 200 approved drugs. Each drug has a
“core page” with links to all information about
the product on the FDA’s Web site, including
general risk information and any past alerts
issued about the drug.
Health Care
Coverage Options
www.nahu.org/consumer/healthcare
The National Association of Health Underwriters
has created a database that provides information
on health insurance options for low-income U.S.
residents and people who change jobs or have
pre-existing health problems. The Health Care
Coverage Options Database provides a state-bystate list of public health insurance programs
for low-income residents, such as Medicaid and
the State Children’s Health Insurance Program.
It also lists 32 states that offer high-risk health
insurance pools for those with pre-existing
health problems.
BioMarin Offers Help
with Insurance Questions
for MPS VI
BioMarin has developed a free and confidential
service designed to assist with healthcare
insurance questions. The BioMarin Patient
and Physician Support program (BPPS) can
help families evaluate their current healthcare
insurance coverage, provide information on
potential healthcare insurance options that may
be available in your state, and educate insurance
companies about MPS VI. To contact a BPPS
patient advocate, call their toll free number
1.866.906.6100.
Shire HGT Offers
Support for MPS II
Resources | Helpful Information
Drug Safety Information
www.hunterpatients.com
Shire Human Genetic Therapies introduced
OnePath support center to help understand
the complex issues pertaining to ERT, coverage,
coding and reimbursement. When you call
OnePath, you’ll be assigned a personal case
manager who will help address any questions
or concerns associated with ERT. OnePath
case managers have access to many important
resources; they also get to know you and can
anticipate your needs. OnePath case managers
can also address questions about insurance and
other issues related to ERT. Toll-free number:
866.888.0660
Genetics Home Reference
http://ghr.nlm.nih.gov/handbook
This Web site contains a comprehensive “Guide
to Understanding Genetic Conditions,” with basic
information about genetics in clear language and
links to online resources.
Genzyme Treatment
Support Offers MPS I
Families Insurance
Counseling
Genzyme Treatment Support is a free and
confidential service staffed by a team of nurses,
social workers, and other health care professionals
act as patient advocates and provide confidential
one-on-one insurance counseling to patients
and their families. For more information, call
1.800.745.4447, Monday through Friday.
Mercy Flight Southeast offers free flights
for those in need
The mission of Mercy Flight Southeast is “Coordinating free air transportation for children and adults
with medical or compelling humanitarian needs.” For more than 25 years, Mercy Flight Southeast has
coordinated these FREE missions, which are generously flown by a team of volunteer pilots who give
of their aircraft, their skills and their fuel, to help those who are in need. For more information, visit
www.MercyFlightSE.org.
43
Resources | Helpful Information
Have an Extraordinary Experience
The Family Support Committee is pleased to introduce Extraordinary Experiences, the newest Family
Support program. Extraordinary Experiences was developed to help all of our unique and special
children, regardless of their diagnosis or abilities, to create their own extraordinary experience.
This program was developed specifically for individuals ages 14–24 diagnosed with MPS and
related diseases. Grants of up to $1,000 are available for special camps, events, class trips and other
unique opportunities. The Society will partner with the individual and his or her family to help
cover registration fees and travel expenses, and other fees associated with his or her extraordinary
experience.
Extraordinary Experiences was initiated in response to a grant the National MPS Society received
from BioMarin/Genzyme LLC to honor Spencer Holland (MPS I). Spencer was a pioneer and
trailblazer for many individuals diagnosed with MPS. He and his sisters participated in clinical trials
for enzyme replacement therapy. They openly shared their life experiences which inspired other
children and adults affected with MPS. Spencer will always have a special place in our hearts.
The National MPS Society thanks you, Spencer, and everyone with MPS and related diseases for
being an inspiration to many. Special thanks to BioMarin/Genzyme LLC for this wonderful gift
which will allow special young adults to have an extraordinary experience.
More information about Extraordinary Experiences can be found at www.mpssociety.org or by
contacting Laurie Turner at [email protected] or 207.843.7040.
Mini-Miracles
Mini-Miracles is an adaptive clothing line designed for the special needs child. Their philosophy is
to promote dignity, comfort and quality of life for every child, while giving back to the community by
donating to local Canadian charities.
Mini-Miracles clothing line consists of items chosen to meet the basic needs of the special needs
child. They reflect the research and experience that the owner, pediatric special needs nurse Victoria
Allen, has acquired working with special needs children.
The clothing is made of the highest quality Peruvian cotton and has different options available for
different needs (e.g., gastro-intestinal feeding tube access pocket, cut to fit diapers, etc.).
Featured adaptations:
• Flat seams to reduce friction
• Discrete adaptations so clothing looks normal
• Easy access—snaps, Velcro, stretchy fabrics
• Roomy seat to accommodate diapers (all ages)
• Longer rise in the back to accommodate
sitting in a wheelchair
• Elastic waist for ease of dressing and
increased comfort
• Meets Health Canada regulations for safety
and flammability
Visit www.minimiracles.ca for more information.
44
Suitable for:
• Limited
range of motion and impaired
dexterity
• G-tube feeding
• Wheelchair
• Cerebral Palsy
• Muscular Dystrophy
• Developmental disabilities
• Contractures
• Toilet/changing needs
• Catheters and colostomy bags
• IV tubes
• Rigidity
Resources | Helpful Information
Tissue bank aims to improve treatment
of developmental disorders
The National Institute of Child Health and Human Development (NICHD) Brain and Tissue
Bank for Developmental Disorder at the University of Maryland in Baltimore is a tissue resource
center designed to further research aimed at improving the understanding, care and treatment of
developmental disorders.
The NICHD Brain and Tissue Bank serves as an intermediary between the research community and
people who wish to donate tissue for research upon the time of their death. The Bank safely stores
the tissue until qualified researchers request the tissue for research which has been approved by their
Institutional Review Board. Both people with developmental disorders and people free of disorders
are encouraged to register and donate tissue. Often times it is the comparison of the unaffected with
the affected which unlocks the medical mystery of a disorder.
The availability of tissue from donors with MPS and other storage diseases is especially limited. As
more tissue becomes available and more researchers dedicate their life’s work to this disorder, new
discoveries can lead to new treatments and, perhaps one day, to a cure. It is only through the study
of donated tissue that important answers will be found.
If you are interested in becoming a registered donor, or if you have questions regarding the donation
process, contact Melissa Davis, project coordinator, at 800.847.1539.
Morgan’s Wonderland:
Finally, a place where everyone can play!
Located in San Antonio, TX, Morgan’s Wonderland is the world’s first ultra accessible family fun park
designed specifically for children and adults with special needs, their family members, caregivers,
friends and the entire community. This 25-acre park is a unique oasis which, through the spirit of
inclusion, allows people of all abilities to play, learn and share life-changing experiences together, in
a fun and safe environment.
For more information, go to www.morganswonderland.com/index.html.
Brave Community offers customized information
about rare diseases
BraveCommunity.com provides a dynamic source of news, information and personal insights about
certain rare diseases for patients and their families, friends and healthcare professionals. The Web site
searches the Internet and posts Web content and news stories relevant to certain rare genetic diseases
to help you stay informed. BraveCommunity.com also provides disease summaries, information
about the clinical trial process and relevant publications. Users can sign up to personalize content
and share own stories.
Learn more at www.BraveCommunity.com.
45
Resources | Helpful Information
With Open Arms: Embracing a Bright Financial Future
for You and Your Child
Financial Guide for Parents of Children with Disabilities and Other Special Needs
Caught up in the daily responsibilities of caring for a child with a disability, parents often push
financial planning to the back burner. Postponing financial planning is understandable when a
child’s daily needs are more pressing, but this lapse can result in someone else choosing a child’s
future, should parents become unable to oversee his or her care.
Easter Seals and the National Endowment for Financial Education® (NEFE®) have collaborated to
create a 72-page financial planning booklet for parents, caregivers, grandparents or others involved
in the care of a special needs child. Included is information on estate planning, finding the right
lawyer or knowledgeable financial planner, wills, special-needs trusts, government benefits, savings
options insurance plans and other available resources. Easter Seals and NEFE encourage families to
start financial planning when their child with a disability is at a young age.
Following is excerpted information from With Open Arms: Embracing a Bright Financial Future
for You and Your Child. For a complete copy of the guide, visit www.easterseals.com/site/
PageServer?pagename=ntl_with_open_arms, or to order a printed copy of this free booklet, send a
$5.00 check for shipping/handling, payable to Easter Seals, to: With Open Arms/Easter Seals, 233
South Wacker Drive, Suite 2400, Chicago, IL 60606.
Estate Planning and Finding the
Right Lawyer
As you begin the estate planning process, find
a good lawyer. Because laws affecting Americans
with disabilities change frequently and require
special expertise, you will not be able to handle
your estate on your own, nor will the average
lawyer. While you may know someone who
specializes in estate planning, this individual
may not be familiar with the legal issues specific
to your situation. Only a lawyer who specializes
in estate planning for families who have a child
with special needs can guide you through the
complicated details of your estate.
To find a lawyer who specializes in this area,
ask other parents for references. Check with
a local advocacy agency such, as The Arc for
recommendations. The National Academy of
Elder Law Attorneys (NAELA) also may provide
some names. Interview prospective lawyers by
asking questions like, “How many special needs
trusts have you written?” and “Are you familiar
with recent developments in disabilities law?” If
the lawyer writes only a handful of special-needs
trusts every year, this person may not have the
specific skills you need.
Wills
Your last will and testament is the document
that explains how you want your estate to be
distributed after you die. First, a will can name
a guardian for your child. Second, it provides a
46
road map for loved ones on how you would like
things handled after you’re gone. A bequest (or
legacy) is a gift of personal property made by
a will.
Finally, it is important to note that your will
should prevent your estate’s assets from going
directly to your child with disabilities. While
it’s natural to want to give everything to your
special-needs child, assets of more than $2,000
can disqualify your child from receiving
government benefits like Supplemental Security
Income (SSI) or Medicaid. There are special
planning techniques, such as special needs
trusts (discussed later in this article), that can
be used to safeguard your child’s eligibility for
government benefits.
There are many pitfalls involved in leaving your
estate to chance. If you die without a will, the
state could distribute your estate without regard
on how it might affect your child. Then, there’s
the matter of probate charges and taxes, that
could consume a chunk of your hard-earned
wealth if you die without a proper estate plan.
If you die without a will and your child should
need a conservator or guardian, a state court
could appoint that guardian on its own.
Therefore, your will (or trust) should name a
guardian or conservator for your child. This will
enable a court to consider your wishes before
appointing a guardian.
continued
After you die, a trust can be used to manage your
child’s financial affairs regardless of his or her
age. A trust is a sophisticated legal document.
Therefore, you must hire an estate planning
attorney to draft the trust document. Income
from the trust can be accumulated or distributed
as needed. A spendthrift provision can be used
to protect the assets held by the trust from
your child’s creditors. As we will discuss later
on, a special type of trust is best suited for your
disabled child.
Conservatorship/Guardianship
Until your child is 18 years old, you are legally
responsible for his or her welfare. That means
you have legal powers to make certain decisions
for your child. By law, your child is considered to
be an adult when he or she turns 18, or (in some
states) marries before the age of 18. Therefore,
it may be necessary to appoint a guardian or
conservator to manage the affairs of your adult
child.
Because conservatorship limits the ability
of people to make decisions for themselves,
establishing conservatorship is not something
to undertake lightly. As your child approaches
adulthood, you will have to determine whether
your child can make decisions in his or her
own best interest. If you determine that
conservatorship is right for your child, and
you and your spouse are still in good health,
you probably will want to serve as your child’s
conservator after he or she turns 18.
As you plan your estate, you will have to make
the difficult choice of selecting a conservator if
you die before your child. You will want to name
this person in your will. This is a tremendous
responsibility for someone. Sometimes, siblings
or other family members can fulfill this role.
But in some cases that’s not appropriate. Make
sure that whoever is appointed understands the
magnitude of the responsibility and willingly
accepts it.
Letter of Intent
A letter of intent is your message to the future.
It is a document that you will share with trustees
and future guardians. It is not legally binding,
but provides a guide for your child’s care-givers
or the courts on how you would like your child to
live after you’re gone.
Typically, a letter of intent includes three major
sections. The first gives a complete medical history
of your child, including hospital visits, doctors,
allergies, and medications—anything related to
your child’s health. The second section offers
practical advice, including housing and services
needed, names of advocacy organizations, and
daily care requirements (even down to listing
your child’s hairdresser, clothing sizes, favorite
foods and colors, or behaviors that anger your
child). The third part states your hopes and
dreams. It might name favorite teachers who
share your life vision, as well as people who may
work with your child who have different views.
List everything you can think of that might affect
your child’s future. As much as possible, involve
your child in writing a letter of intent.
Share your letter of intent with the person who
will be responsible for your child and ask how he
or she feels about it. If you doubt that this person
will respect your wishes, you may want to choose
another guardian. While the letter of intent may
have nothing to do with the legal aspects of your
estate, it is the one document that really speaks
to your survivors about how you want your child
to be treated.
Siblings
Although you may wish to divide your estate
equally among your surviving children, your
child with disabilities may need more assets.
As you begin planning, work with your lawyer
and/or financial planner to develop a plan for
your child’s future while considering your other
children as well. If appropriate, include your
children in the planning process and explain
your decisions. Siblings of special-needs children
may be quite willing to give up a share of an
inheritance if it means that their special-needs
brother or sister can live independently. Studies
show that sharing information helps relieve
concerns siblings have about their special-needs
brothers and sisters.
Also, you will have to work closely with your
other children to define the nature of their
caregiving role after you’re gone. Insisting that
an unwilling sibling take responsibility for a
brother or sister with a disability ultimately will
lead to unenthusiastic care. Make sure your
children are “on board” and capable of any caregiving responsibilities they accept.
continued
Resources | Helpful Information
Trusts
What is a Trust?
A trust is a legally
enforceable agreement
in which a person
(called a trustee)
is named to hold
property or assets
for the beneficial
use or enjoyment of
another person (called
the beneficiary). The
grantor (or settlor)
is the person who
established the trust.
The principal of the
trust is referred to as
the corpus (or res)
and is distinguished
from the income of
the trust. In making
this distinction, the
principal of a trust can
be invested to provide
income over the life of
a beneficiary. However,
a trust can be drafted
to permit the principal
to be used in case of
an emergency.
47
Special-Needs Trusts
A special-needs or supplementary-needs trust
offers a reliable way of safeguarding a child’s
eligibility for benefits, while providing for
additional needs not covered by the government.
General
Conservatorship
or Guardianship
of the Person and
Estate—This type of
conservatorship usually
gives full decisionmaking powers about
someone’s life to the
appointed person. With a
general conservatorship,
the conservator can
make decisions about
housing, clothing,
medical care, food,
contracts, etc. and
is established for
people who can’t make
decisions on their own.
Limited
Conservatorship or
Guardianship—This
kind of conservatorship
limits the powers of the
conservator to mirror the
needs of the individual.
A limited conservatorship
is established for
someone who may
not be in a position to
handle everything, but
can make certain life
decisions by himself or
herself. (For example, a
limited conservatorship
may apply only to health
care decisions.) A
limited conservatorship
encourages selfdetermination and
independence by
granting the conservator
powers only for those
areas the individual
can’t manage.
48
A special-needs trust enables a trustee to pay for
items and services beyond the bare necessities
the government provides. For example, if your
child’s television were to break, the trustee could
purchase a new one. If your child wanted to
vacation with friends in Florida, the trust could
pay for that as well. A special-needs trust can
pay for everything from ball games and movies
to private rehabilitation and vitamins. This is
where your letter of intent really comes into play.
Should your child’s trustee perceive a Florida
trip as a waste of resources, your instructions
could help relieve the trustee’s concerns about
squandering money.
Rather than your child receiving direct bequests,
the trust should serve as the recipient of all
inheritances or gifts. Notify grandparents, other
relatives, and friends who might want to leave a
bequest to your child and ask them to leave it to
the special-needs trust instead.
Funding the Special-Needs Trust
How do you amass sufficient money to fund a
special-needs trust? You may have more assets
than you realize—although some may not be
available until your death. Ask your financial
planner for other ways to boost your resources.
Here are some ideas:
• Life insurance
• Standard government benefits, such as Social
Security survivor benefits
• Savings and investments, including money in
retirement funds
• Assistance and inheritances from friends and
family members
• Property, such as a home or rental property
• Military benefits
Saving and Investing
You may want to consider seeking the advice of a
financial planner, especially one who specializes
in disabilities planning. This kind of specialist
can help not only with your general finances but
also can look at your life, taking into account
your family’s special considerations. To find
someone who cares to address your specific
issues, check with your lawyer, other parents,
local advocacy organizations, or NAELA. You
also can begin to investigate saving and investing
on your own. Following are some saving and
investment vehicles:
Dollar-cost averaging is an investment strategy
whereby you invest a consistent amount (such
as $50 or $100) at regular intervals (say each
month or quarter).
Mutual funds pool your money with that of many
other investors. Instead of buying just a few
assets, a professional fund manager purchases
many stocks, bonds, and/or other assets, which
diversifies your investment. In other words, you
don’t end up with all your eggs in one basket.
Treasury securities include federal government
bills, notes, and bonds. Interest payments are
guaranteed. Your principal is safe as long as you
retain the security until it matures—the time
when the government agrees to pay back the
principal.
Stocks are an investment in a company; to
put it simply, you own part of the business in
which you invest. Stocks tend to be a higherrisk investment because they are affected by
a company’s performance, the economy, and
political events. To lower the risk associated
with stock ownership, it’s a good idea to own
stock in more than one company. It’s also wise
to purchase stock across different industries or
sectors, a tactic that diversifies your investments.
Also, most experts advise investors to hold their
stocks for the long term.
Company-issued and government-issued bonds.
When you purchase a bond, you are lending your
money to the issuer. A bond is a legal promise to
pay you interest for the use of your money, as
well as repaying the principal. While there are
some risks associated with bonds, the potential
return can often be greater than if your money
was simply sitting in a savings account.
Life insurance is one of the foremost tools people
use to fund their special-needs trusts.
There are two basic types of life insurance:
term and permanent coverage. Term insurance
is about protection; it is not an investment.
This is not the type of life insurance experts
usually suggest as a vehicle to fund specialneeds trusts. Permanent life insurance covers
you permanently without your having to prove
insurability (as long as you don’t let the policy
lapse). In time, the cash value of your policy
can add up to a large sum of money, an amount
continued
Real estate investment might include residential
rental property, raw land, a real estate investment
trust, or commercial (business) real estate. As
you think about purchasing real estate, consider
that you will have to pay property taxes. Also, the
property might be difficult to sell if you need the
money right away. Over the long term, real estate
can yield high returns but there is potential for
great losses as well.
Retirement Planning
A big part of your savings strategy involves your
future retirement.
Employer-Sponsored Plans
Individual Retirement Accounts
Coverdell Education Savings Account
For people with children, the government has
provided an incentive for parents to save for
education expenses through the tax-deferred
Coverdell Education Savings Account. Check
with a knowledgeable financial planner about
whether a Coverdell Education Savings Account
could jeopardize future government benefits for
your child with special needs. In addition to a
$3,000 per year personal IRA contribution, you
may contribute up to $2,000 per child per year
to a Coverdell Education Savings Account—until
the child reaches the age of 18.
Like the Roth IRA, contributions to the account
are not tax deductible, but earnings accumulate
tax-free. What’s more, withdrawals from these
ESAs can pay for tuition, books, supplies, and
room and board (for full-time students). If the
child doesn’t attend college, the money must
be withdrawn by the time he or she turns 30;
otherwise, those earnings are subject to income
tax and the 10-percent penalty. Or you can roll
an ESA over to another member of the family
without penalty. Rules about ESAs can change.
Check with your financial advisor regarding the
latest information and whether an ESA makes
sense for your situation.
Your Government Benefits
Medicaid
Medicaid is a program, paid for by the federal
government and the states, that covers the cost
of certain medical care and procedures for lowincome people. Every state administers its own
program and handles things a bit differently.
For a child under 18 to receive Medicaid
benefits, your income and assets must fall below
a certain level. Some people who might qualify
for Medicaid include low-income families with
medically needy children under the age of 21
who meet certain requirements, Supplemental
Security Income (SSI) recipients, infants born
to Medicaid-eligible women, children under six
years old, and pregnant women whose family
income falls at or below 133 percent of the
federal poverty level. To find out more, visit
www.cms.gov or call 410.786.3000.
Resources | Helpful Information
against which you usually can borrow. You will
pay more at first for a permanent policy than you
will for term insurance, but your premium won’t
change. This is the type of policy most people
use to fund special-needs trusts.
Medicaid Waiver Programs
Waiver programs are for children with disabilities
who would otherwise not qualify for Medicaid or
SSI because of their parents’ income. In addition
to medical coverage, waiver programs may cover
a number of targeted services and supports. You
must qualify before you can sign up for most
waiver programs. If you do qualify, enroll even
if you must add your name to a waiting list. In
some states, there is a co-pay for services based
on parents’ income. For more information, call
1.800.633.4227 or call your state Medicaid office.
Medicare
This government health insurance program is
available to children with certain disabilities,
such as chronic renal disease, which requires a
kidney transplant or maintenance dialysis. These
children can qualify for Medicare if they have a
parent who is receiving Social Security or who has
worked enough to be covered by Social Security
Disability Insurance. Contact Medicare for
specific information by calling 1.800.633.4227 or
visiting www.medicare.gov.
State Children’s Health Insurance Program
(SCHIP)
This program is administered through individual
states, which set eligibility and coverage
following broad federal guidelines. Recipients
must be qualified as low income, be ineligible
for Medicaid, and be uninsured. Programs
differ, but all must offer at least these services:
in-patient and out-patient hospital services,
doctors’ surgical and medical services, lab and
X-ray services, and well-baby/child checkups,
including immunizations. Some states may
provide additional benefits. SCHIP is available
in all states and the District of Columbia. You
continued
Start Saving Now
Even if you are not
wealthy, you can make
a big difference in
your future and your
child’s future if you start
planning today. Although
you may never save vast
sums of money, you
can set priorities and
find ways to bridge
the shortfalls if you
begin tackling these
things now.
Making a
Spending Plan
How can you meet your
goals? You can begin
by creating a basic
spending plan in four
easy steps:
1. List your monthly
income.
2. Identify your
expenses.
3. Compare your income
and expenses.
4. Make appropriate
changes.
49
Resources | Helpful Information
can apply for SCHIP for your child at state
public schools. In some states, you can apply
through the or public health departments, state
social service agencies, or state welfare agencies.
Contact 1.877.543.7669 or www.insurekidsnow.gov.
Children With Special Health Care Needs
(CSHCN) Provision of the Social Security Act
If your child is eligible for SSI, he or she also will
be eligible for CSHCN, a program administered
via state health agencies. Although there are
differences, most CSHCN programs help provide
specialized services through arrangements with
clinics, private physicians, hospital-based outpatient and in-patient treatment centers, and
social services. CSHCN programs are known by
a variety of names, including Children’s Special
Health Services, Children’s Medical Services,
and Handicapped Children’s Program. Even
if your child is not eligible for SSI, a CSHCN
program may be able to help you. The Institute
for Child Health Policy publishes the Directory
of State Title V CSHCN Programs: Eligibility
and Scope of Services; visit www.ichp.edu or call
352.392.5904.
State-Mandated Insurance Programs
State-mandated insurance programs are for
those who have been refused health insurance,
offered health insurance at a higher-thanstandard premium, or have been offered health
insurance with a rider that substantially reduces
coverage. A small business owner may obtain
this type of coverage for an employee who has
a child with special needs. It is definitely worth
exploring your state’s program.
Nonmedical Benefits From Social Security
Available to Children with Disabilities
There are several ways a child may be able to
claim non-medical benefits from Social Security.
Supplemental Security Income (SSI)
SSI benefits are available to children with
disabilities, under age 18, whose disability
is expected to last more than 12 months or
result in death and whose parents’ income and
resources are limited. When your child reaches
age 18, he or she then becomes eligible for SSI if
his or her income and assets meet Social Security
guidelines and if the disability interferes with
employability. (The ability to qualify for SSI after
50
the age of 18 is a major reason financial advisors
suggest that you keep assets out of your child’s
name.) If a child qualifies for SSI, he or she also
will qualify for Medicaid.
Social Security Disability Insurance (SSDI)
When you qualify for Social Security retirement
or disability benefits, your disabled child also
may qualify to receive benefits based on your
entitlement to benefits. The definition of child
includes your biological child, adopted child,
or stepchild. If the parent has died, children
under the age of 18 may collect dependent SSDI
benefits on the parent’s record (if qualified.)
These benefits are available to all children,
regardless of whether the child has a disability.
SSDI benefits can continue into adult- hood if
the child has a disability that began before age 22.
For information about SSI or SSDI, contact the
Social Security Administration at 1.800.772.1213
or www.ssa.gov.
Insurance
Making sure you have adequate insurance is
particularly important for families who are
dealing with disability issues. Health, life and
disability insurance policies are your buffer
against catastrophic expenses and losses.
To maximize medical coverage for your child, it
is essential that you understand your policy.
Examine your policy and its coverage. There are
many types of medical coverage, including health
maintenance organizations, preferred provider
organizations, point-of service-plans, indemnity
plans and exclusive provider organizations.
What type of medical plan do you have? Does
it cover certain kinds of therapy? Are there any
provisions for mental health care, emotional
behavioral disorders, or other mental health
disabilities? Even if your health care plan pays for
your child’s mental or physical health care needs,
you may still be subject to paying deductibles, coinsurance, and/or co-payment fees. Factor these
costs into your spending plan.
continued
The Arc of the United States
1010 Wayne Ave., Suite 650
Silver Spring, MD 20910
301.565.3842
www.thearc.org
Easter Seals
230 West Monroe St., Suite 1800
Chicago, IL 60606
1.800.221.6827
312.726.6200
TTY: 312.726.4258
www.easter-seals.org
Financial Planning Association
1.800.322.4237
www.fpanet.org
National Association of Protection
and Advocacy
900 2nd St. NE, Suite 211
Washington, DC 20002
202.408.9514
www.protectionandadvocacy.com
National Organization for Rare Diseases
(NORD)
P.O. Box 8923
New Fairfield, CT 06812-8923
1.800.999.6673
www.rarediseases.org
Resources | Helpful Information
Resources
National Parent Network on Disabilities
(NPND) Pacer Center Parent Advocacy
Coalition for Educational Rights
1130 17th St. NW, Suite 400
Washington, DC 20036
202.463.2299
www.npnd.org
S.N.A.P.
(Special Needs Advocate for Parents)
1801 Avenue of the Stars, Suite 401
Century City, CA 90067
1.888.310.9889
310.201.9614
www.snapinfo.org
National Council on Disability
1331 F St., NW, #1050
Washington, DC 20004
202.272.2004
www.ncd.gov
National Information Center for Children &
Youth with Disabilities (NICHCY)
P.O. Box 1492
Washington, DC 20013-1492
1.800.695.0285
www.nichcy.org
51
MPS Classifications
52
Mucopolysaccharidoses (MPS) and related diseases are genetic lysosomal
storage diseases caused by the body’s inability to produce specific enzymes.
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.
Syndrome
Eponym
Enzyme Deficiency
MPS I
Hurler, Scheie,
Hurler-Scheie
a-L-Iduronidase
MPS II
Hunter
Iduronate sulfatase
MPS III A
Sanfilippo A
Heparan N-sulfatase
MPS III B
Sanfilippo B
a-N-Acetylglucosaminidase
MPS III C
Sanfilippo C
Acetyl CoA: a-glycosaminide
acetyltransferase
MPS III D
Sanfilippo D
N-Acetylglucosamine 6-sulfatase
MPS IV A
Morquio A
Galactose 6-sulfatase
MPS IV B
Morquio B
b Galactosidase
MPS VI
Maroteaux-Lamy
N-Acetylgalactosamine 4-sulfatase
(arylsulfatase B)
MPS VII
b-Glucuronidase
Sly
MPS IX
Hyaluronidase
ML II/III
N-acetylglucosamine-1phosphotransferase
I-Cell, Pseudo-Hurler
polydystrophy
Board of
DIRECTORS
Ernie Dummann, president;
chair, Legislative Committee
Debbie Dummann
6721 St Ives St.
Anchorage, AK 99504
907.337.6014
[email protected]
MPS III parents
Steve Holland, chair,
Fundraising Committee
Amy Holland
1752 Hilltop Circle
Fort Worth, TX 76114
817.625.6999
[email protected]
MPS I H-S parents
STAFF
Kristine Klenke, vice president;
chair, Family Support Committee
7604 Sherry Creek Road
Worden, IL 62097
618.888.2204
[email protected]
MPS II parent
Austin Noll
3735 Redwood Circle
Palo Alto, CA 94306
650.521.0089
[email protected]
MPS III parent
Laurie Turner,
program director
[email protected]
Angela Guajardo, treasurer
Luis Guajardo
1815 Post Oak Road
Edinburg, TX 78539
956.287.2887
[email protected]
MPS III parents
Kim Frye, secretary; chair,
Education/Publicity Committee
Stephen Frye
3625 E. Thousand Oaks Blvd.,
STE 217
Westlake Village, CA 91361
818.263.7420
[email protected]
MPS II parents
Jennifer Clarke
186 Odd Road
Poquoson, VA 23662
757.868.7569
[email protected]
MPS III parent
Tom and Anne Gniazdowski
315 Meadowview Court
Springboro, OH 45066
937.748.8809
[email protected]
MPS II parents
MaryEllen Pendleton
56 E. Vinedo Lane
Tempe, AZ 85284
480.831.2157
[email protected]
MPS III aunt
Tami Slawson
1342 Oak Mesa Drive
LaVerne, CA 91750
909.593.1237
[email protected]
MPS I parent
Dr. Klane and Amy White
3421 West Laurelhurst Drive, NE
Seattle, WA 98105
206.523.2727
[email protected]
MPS I parents
Kim Whitecotton
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
President Emerita
Marie Capobianco
Steve Holland
Mary Majure Couture
Linda K. Shine
Barbara Wedehase,
executive director
[email protected]
Terri Klein,
development director
[email protected]
Naureen Sayani,
office manager
[email protected]
SCIENTIFIC
ADVISORY BOARD
Alessandra D’Azzo, Ph.D.
Gideon Bach, Ph.D.
Lorne A. Clarke, M.D.
Robert Desnick, M.D., Ph.D.
Matthew Ellinwood, D.V.M., Ph.D.
Louis Elsas, M.D.
Mark Haskins, Ph.D., V.M.D.
John Hopwood, Ph.D.
Laird Jackson, M.D.
Joseph Muenzer, M.D., Ph.D.
Elizabeth Neufeld, Ph.D.
Beth A. Pletcher, M.D.
Mark Sands, Ph.D.
Edward Schuchman, Ph.D.
William Sly, M.D.
Charles H. Vite, D.V.M.
Steven Walkley, D.V.M., Ph.D.
David Wenger, Ph.D.
Chester Whitley, M.D., Ph.D.
John H. Wolfe, 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