Volume 33 | Number 3 | Fall 2009
COURAGE
International
MPS Day
MPS community
celebrates, honors
and remembers
Walking for
a Decade,
and Still
Going Strong!
MPS Society
walk/run events
mark 10-year
anniversary
Personal
Health Records
Make life easier
and be an active
partner in your
healthcare
Sponsor a Child
Let’s Give
for a Cure
a Standing
Ovation to…
New fundraising
program allows MPS individuals are
families to
honored for their
participate in resilience, courage
walk/runs by proxy and passion for life
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
Family News................................................................................8–10
International MPS Awareness Day.............................................11–20
Fundraising................................................................................21–29
Diagnosis
Relationship
Address
Legislative Update.....................................................................30–33
Making Headlines......................................................................34–35
Upcoming Events........................................................................... 35
Remembering Our Children.......................................................36–37
City, State, ZIP
Telephone
E-mail
Standing Ovation.......................................................................38–41
A Warm Welcome........................................................................... 41
Research News: Hope for the Future.........................................42–48
Volunteer Spotlight....................................................................49–50
Resources | Helpful Information.................................................51–59
MPS Classifications........................................................................ 60
Board of Directors.......................................................................... 61
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
Would you like our publications in
b electronic (e-mailed) format or
b hardcopy (mailed) format
Pictured on the cover:
Sydney VanHook (MPS I), Rachel Cumpain (MPS IV) and
Sasha Segal (MPS III)
Correction:
The article on page 15 in the summer issue of Courage by Eddie Bell
(MPS I) was transcribed by his mother and caregiver Debra Bell.
Please send your membership form and
check to:
National MPS Society
PO Box 14686
Durham, NC 27709-4686
1
President’s Letter
“Never doubt that a small group of thoughtful, Your Education/Publicity Committee has the
committed citizens can change the world. immense undertaking of modernizing your
Society’s Web site to not only make it responsive
Indeed, it’s the only thing that ever has.”
This inspirational, yet pragmatic quote was
written by Margaret Mead, an anthropologist
who studied and worked on cultural and social
issues. Although I have read a few periodicals on
Margaret Mead I always come back to this quote,
and it remains very applicable today with our
Society. Without our devoted members, we would
have never grown so fast and helped so many
with MPS diseases.
Although we all take great pride in the
accomplishments made with our Society’s
successes, we cannot sit on our laurels and expect
the future to be bright. Remembering that many
of our children do not have treatments and none
have cures, we must continue to push forth in
many areas to ensure cures will be found and
that MPS and related diseases will be eradicated
in our future.
Our goal is to continue to forge new
paths and directions in a variety of
areas. As you recently read in our
previous Courage, a new path for
our Society is to support and thank
Dr. Emil Kakkis for his approach
to “fixing” the FDA through his
foundation’s legislative efforts. Dr.
Kakkis is primarily known as the chief
medical officer with BioMarin, and
for introducing enzyme replacement
therapy into our MPS community.
With his retirement from BioMarin,
Dr. Kakkis is not sitting home
swinging on his front porch, but
instead is trying to fix what he sees as
a broken system when it pertains to clinical trials
for those with the ultra orphan diseases. Please
go to www.curetheprocess.org to read and sign
up for Emil’s blogs.
Another area your Legislative Committee is
pursuing is to have an MPS caucus to continue
to raise awareness on a federal level. We will
not stop there! We will continue on new paths,
and combine efforts with other non-profit
organizations whenever we have common ground
issues. This is evident with our combined efforts
with other nonprofits and fighting for H.R.1441,
The Ryan Dant Healthcare Opportunity Act
of 2009.
2
for families but more informative for the general
public. We have had a number of federal
legislators, foundations, and other non-profit
organizations visit our Web site to authenticate
our Society. Our sister organizations rely on our
Web site for up-to-date information. This is an
area which we must continue to keep updated
and supportive for our members and others. This
committee is looking into other innovations that
can help educate and bring about awareness to
our cause.
The Family Support Committee interacts with
our membership on a daily basis, and we are so
honored to be able to sponsor your child with an
educational scholarship, to financially assist your
loved one in obtaining hearing aids, to assist you
in attending our conferences and to learn your
ideas on how families need support from our
organization. The Family Support Committee
continues to explore other services.
Although we do not mention the Technical
Support Committee as much as we probably
should, these dedicated ad hoc committee
members take on technical aspects with pride,
knowing that funding for researchers is vital to
our mission of curing MPS and related diseases.
They work closely with our Scientific Advisory
Board on each and every grant the Society offers
and awards.
Last, but certainly not least, our fundraising is
another critical extension of our Society. For such
a small membership with these rare diseases, we
produce some amazing efforts in so many areas:
bake sales, recitals, dances, golf tournaments
and our walk/run events. In the first six months
of this year, we have already had more than 30
fundraising events held by loyal members and
their families. These events raise many dollars
and critical awareness in our local communities.
Our families are not bashful in telling their
communities that “someone I love needs a cure.”
Your board of directors is not bashful either.
Although I give many kudos to those who actively
participate on all these committees, the praise for
the successes really belongs to you, our members.
Instead of being cynical because of your diagnosis
with MPS or related diseases, you take the time
to thoughtfully tell us when we are deficient in
your expectations. You again give us your praises
continued
We have received many calls from enthusiastic
families looking forward to our 2009 Disney
World conference in December. It will be here
before you know it, and I look forward to seeing
and visiting with everyone.
heels for Opal. Thank you for the calls, cards,
e-mails and wishes for Trent and Amy.
As I end the President’s Message, I will leave you
with my late mother’s favorite quote by Winston
Churchill which also is very applicable to the
success of our Society:
“A pessimist sees the difficulty in every
opportunity; an optimist sees the opportunity
On a personal note, our family has been in a
in every difficulty.”
whirlwind as of late. Our son Trent and his wife
Amy welcomed their precious Opal Maxine
Dummann into the world on July 16, 2009. After
a few medical concerns, both mom and baby are
doing great and are getting used to their new
“normal.” It hasn’t taken us long to fall head over
A recent Pew Research Center survey examined
the Web habits of Generation Y, ages 18–32.
They found that our messages won’t reach the
right audience unless they are delivered via
the appropriate medium and presented in the
audience’s “conventional” language. “The Web
continues to be populated largely by younger
generations, as more than half of the adult
Internet population is between 18 and 44 years
old. But larger percentages of older generations
are online now than in the past, and they are
doing more activities online…” The National
MPS Society, through the work of Kim Frye and
her ad hoc committee, is developing a fresh, new
Web site that will allow us to embrace today’s
audience and various means of communication.
Another ad hoc committee, the Governance
Committee chaired by Kris Klenke, has researched
and developed materials geared to enhance the
forward vision of the Society. The Governance
Committee is responsible for ongoing review
and recommendations to enhance the quality,
future viability and visionary leadership of the
board of directors. A Governance Committee
is standard among non-profit organizations
and helps the organization live up to its highest
potential. This committee is reviewing the
applications submitted for the six positions open
on our board of directors and
interviewing the applicants. The
ballot with the slate of candidates
will be mailed to Society members
for their vote in early October.
We have set the date for our 24th
Family Conference, Sept. 30–
Oct. 2, 2010. The meeting will be
held at Knott’s Berry Farm Resort
Hotel in Los Angeles, CA. Laurie
Turner and I met with our conference planner
in June, and we are thrilled to be offering this
opportunity to our families. Knott’s Berry
Farm—America’s 1st Theme Park—is steps away
from the hotel and offers rides and attractions
for the entire family.
Executive Director’s Letter
for the successes our Society has accomplished to
help your loved one. Our board of directors and
staff acts upon all feedback we receive.
Our current daily focus is DISNEY! We can
hardly wait to see everyone again and share in
your delight of this very special conference.
The deadline for registering is Nov. 13; you can
download the forms from our Web site, or call
the office to have us send you the forms. Hope
to see you in Florida!
3
Program | Development Director’s Letters
4
The Family Support Committee
has awarded more than $303,000
to families since 2004. This money
has helped families purchase
durable medical goods, provided
scholarships for post high school
education, waived membership
dues for families experiencing
financial difficulties, funded
regional social events and assisted
families to attend our conferences through travel
scholarships.
In the first half of 2009, we awarded $45,000 to
families.
The Family Assistance Program (FAP) can provide
grants of up to $3,000 for durable medical goods
that have been denied by insurance. Families
have been able to purchase hearing aids, hot
tubs, adaptive trikes and power seats for the
family vehicle, just to mention a few of the items.
Extraordinary Experiences (EE) is our newest
program, designed specifically for individuals
ages 14–24 with MPS and related disease to have
an extraordinary experience. We are helping
a young lady with ML attend band camp this
summer.
The FSC awarded $20,000 to families attending
the Annual Family Conference to be held at
Disney World in December. We received 45
applications, with families eligible for a maximum
of $750 each. In addition, each family also
qualified for the complimentary guest room for
two nights at the Coronado Springs Resort. We
are funding 29 families who have never attended
one of our conferences and three families who
have previously attended a conference.
The FSC also has funded 20 $1,000 Continuing
Education Scholarships. Scholarships were
awarded to three individuals with MPS, 15 siblings
and two parents.
Applications for all our Family Support
programs are available at www.mpssociety.org/
content/4141/Family_Support_Program/.
We hope your family will be able to attend the
Disney conference with us. While we have
awarded all of our scholarship money, there may
be funding available within your community or
state. We have heard from several families who
have received funding from state programs and
local civic organizations. It never hurts to ask,
and you may receive good news that funds are
available to you!
At this time, funding is still available for both
the FAP and EE. If your family is interested in
applying, please contact me at 207.843.7040 or
[email protected].
Walk/run into fall with the
National MPS Society during our
10th anniversary of these events!
It’s that time of year again and race
coordinators and the Society are
working hard to get the word out
about MPS and related diseases.
Raising awareness and funds is
critical for eventual therapies to
treat all of our supported diseases.
Though we have lost a few events this year, we
have gained others! This is an opportunity to say
thank you to all of our families for their past years
of hard work and dedication to raising funds
for research. The number of research grants
supported by your efforts is significant.
This year the walk/run events in North Carolina
and L.A. will be launching a new program to
coincide with their events, Sponsor a Child for
a Cure. See page 22 to read about how your
family can be part of this wonderful experience
if you are unable to attend a walk/run in 2009.
Every child and their family can experience the
satisfaction of raising funds and participate in
these events from afar.
Each month the Society is fortunate for the
phone calls received from families and friends
across the country asking what they can do to
help raise funds and awareness for MPS and
related diseases. The creativity of our members is
commended! If you are interested in organizing
your own event next year, please give me a call
and we can talk through the process. A new event
guide has been updated for 2009–2010.
Michael and Staci King
Jeannette, PA, parents of Mikey King, MPS II
Mona Ahmed
Los Angeles, CA, mother of Mohab Alnajjar, MPS II
Elizabeth Kramer
Strausstown, PA, mother of Marcus Kramer, MPS II
Isaia Barrie
Plano, TX, mother of Amadu Barrie, MPS VI
Dawn Laorenza
Foster, RI, mother of Aurora Laorenza, MPS III B
Meagan Berry
Salt Lake City, UT, mother of Christopher Ray Berry,
MPS III
Sergio Lemus
Salt Lake City, UT, father of Sergio Lemus, MPS II
Cynthia Brown
Lithonia, GA, friend of Jerimiah Stanley, MPS VI
Moises Rezende Bueno and Regiane Eunla Oliveira
Atlanta, GA, parents of Joao Gabriel deOliveira
Bueno, MPS VI
Ana Castillo
Paterson, NJ, grandfather of Guadalupe Castillo,
MPS VI
Chiu-In-O
Hyde Park, MA, mother of Tszkin Leung, MPS II
Jennifer and Chris Christianson
Vancouver, WA, parents of Kristofer Christianson,
MPS II
Antonio Daniel Corral Lopez and
Guadalupe Fabela de Corral
Pharr, TX, parents of Walter Corral Fabela, MPS VI
Shelly Maddox
Amarillo, TX, mother of Ian Adams, MPS III
Zoraida Marquez
Bellflower, CA, mother of Nathan Marquez, MPS IV
Rosalba Martinez
Houston, TX, mother of Fabiela Martinez, MPS VI
Sandra Miller
Sebring, FL, sister of Wayne Eppehimer and
aunt of Jason Madison, MPS II
Cassandra Morley
Wyoming, MN, mother of Payton Morley, MPS II
Justin Cimolonski
Deer Park, NY, adult with MPS II
Barbara Naporano
Port Richey, FL, mother of Joseph Naporano, MPS II
Grant and Mieke Embry
Moody, AL, parents of Lucas Matthew, MPS III A
Khunsha Numan
Glenshaw, PA, adult with MPS IV B
Mary Estrada
Morris, IL, mother of Sara and Danielle Estrada,
MPS III A
Kimberly Pruett
Vacaville, CA, mother of Mia Pruett, MPS III C
Maria Figueroa
El Monte, CA, mother of Jeffrey Figueroa, MPS VI
Julie Layton Fisher
Tacoma, WA, mother of Jessica Fisher, MPS VI
Shaun Flora
Syracuse, NY, adult with MPS II
Dawn Michelle Rodriguez
Irving, TX, adult with MPS IV A
Daisy Santiago
Waterbury, CT, mother of Peter Martinez, MPS VII
Michael Schleter
Minneapolis, MN, friend of Jenny Klein, ML II/III
Heridania Gonzalez
Brooklyn, NY, mother of Yelurv Gonzalez, MPS VI
Rosa Perez Seda
New Bedford, MA, mother of Joseph and Victor
Seda, MPS II
Gabina Gramajo
White Plains, NY, mother of Kelvin and Kenneth
Gramayo, MPS VI
Shantrice Stanley
Conyers, GA, mother of Jerimiah Stanley, MPS VI
Chester and Jennifer Hembree
Alcoa, TN, parents of Lucas Hembree, MPS III
Aisha Thompson
Winston-Salem, NC, mother of Tyson Thompson,
MPS II
Kimberly Hemingway
Clinton, NC, mother of Christopher “Antonio”
Hemingway, MPS II
Dave and Hiromi Tilsner
Ventura, CA, parents of Max Tilsner, MPS II
Alia Hernandez
Santa Ana, CA, mother of Janneth Figueroa, MPS VI
Melissa Hogan
Spring Hill, TN, mother of Case Hogan, MPS II
Clarence Hopwood
Gainesville, GA, adult with MPS II
New Members
Kristi and John Abel
Hewitt, TX, parents of Evan Abel, MPS III C
Sharon Walker
Jersey City, NJ, mother of Sharon Walker, MPS III C
Tayyab Zahid
Glenshaw, PA, adult with MPS IV B
5
Donations
In Honor of
Jerry Anhalt’s birthday
Mel and Millie Anhalt
Melvyn Anhalt’s birthday
Barbara and Michael Eaker
Nick Boyce
Simone Melo
Sharon Browne
Michele Satre
Matthew Caldwell
Mark and Stephanie
Caldwell
Blair Chapin
Barbara and David Wiedman
Erik Fletcher
Jessica Craig
Judy Grundfest’s birthday
Mel and Millie Anhalt
Anyssa Guajardo
St. Joseph Catholic School
Karina Guajardo
Vic’s Auto Rebuilders
Cheyenne Hill
Dawn Hill
Case Hogan
Jane Overback
Morgan and Blake
McDermott
Kris Gehl
Nicholas Mendelke
Elizabeth Willis
Iman Woods
Jennifer Vincent
Waverly and Oliver McNeil
Teresa Mendel
Claudette Richardon
Donations
In Memory of
Max Mingo’s birthday
Katherine Brownlee
Helen Kondrich
Alexanndra Kreps
Matthew Michalko
Donald and Becky Mingo
Ingrid Gomez-O’Toole
Alan Schlossberg
Toby Mingo’s birthday
Katherine Brownlee
Rita Emerick
Ronald Jaffe
Alexanndra Kreps
Donald and Becky Mingo
Hugo Van Der Moer’s
birthday and in honor
of his granddaughter
Michelle Hopkins
Helen Allison
Riley Muller
Debra Karnehm
Austin Nace
Thomas and Evelyn Seils
Maddie Holland’s high
school graduation
Amy and Klane White
Leslie Phillips’ graduation
Mary Kroohs
Wake Forest Wesley
Foundation
Mr. and Mrs. Tom Icard
Melissa Bryant
Allison Restemayer
Brian and Kristin Gruhot
Sydnee Jensen
Linda Jean Cohen Levin
Megan Rust
Amanda Stout
Kraig Klenke
Ernest and Debra Dummann
Zachary Townsley
Jennifer Radtke
Olivia Lovell
Claytor Allred and
Susan Taylor
Michael Vellard
Barb McKittrick
Mr. and Mrs. Ken Margolis’
anniversary
Mel and Millie Anhalt
6
Jennifer Vincent
Iman Woods
Maddy Wigglesworth’s
10-year transplant
anniversary
Amy and Klane White
Harry Zuber’s birthday
Mel and Millie Anhalt
Dylan Bontems
Jo Booth
Rachel Brooks
Jewell and Rita Butcher
H.C. and Marilyn Douglas
Richard and Karen Mayfield
Daniel and Sharon Miller
Bernard and Darlene Moore
Lucille Westfall
Robert and Patricia Westfall
Bobby Bourgeois
Louise and Gary Salter
Dorothy Chambers in
honor of her great grandson
Luke Chambers
Krista Crews
Thomas and Evelyn Denton
Atley and Corrine Sharp
Atley and Martha Sharp
Kelly Crompton
John Anderson
Ronald and Beverly Johansen
Terri Klein
Christopher and Jennifer
Moeller
Karly Davis
Betty and Bernard Harvilla
Karl and Gwendolyn O’Dell
Charles and Donna Rice
Valerie Floyd
Janice Izlar
William Friedrich
Sharon Dickol
Danny Gniazdowski
Lisa Albitz
Shane Groth
Anna Melton
Mardel Hayes
Austin and Cheryl Noll
Spencer Holland
Rick Call
Steve and Amy Holland*
Aaron Jackson
Belle Vernon High School
Soccer Booster Club
Darlene and John Duall
Robert and Evelyn Hiles
Betty Jackson
James and Elizabeth
McPhillips
Susan Solomon
Susan Woodward
Joseph Zacovic
Andrew Jump
William and Catherine
Abernathy III
Valerie Barnett
Sharon Cochenour
Kevin and Sheila George
Arthur and Brenda Hawkins
Sandra Jacoby
Joann McCaughan
Melinda and Donald Nau
William and Michelle Perkins
Debbie Puckett
Gail Vittitow
Brian and Jessica Wellman
Carol Westwood
Joe and Jonathan Karas
Irwin Nack
Haya Yeshaya
Amanda Keith
George and Gail Anderson
Audrey Lawson
Brent Davenport
Kevin Maher’s birthday
Joseph and Margaret Maher*
Ryan Mask
Women of the Moose
Sellersville Chapter #471
Esther Pung in honor of her
great grandson Austin Noll
Mike and Nancy Green
Mark and Barbara Holliday
Robert Idalski
Ernest and Agnes Kuebler
Lance and Karol Lynch
Annette Pung
VSA Partners, Inc.
Hannah Eileen Salcher
Peggy Shaper
Eunice Savor
Mel and Millie Anhalt
Noah Scott
Christine Bickley
D.F. and J.B. Nelson
Robert Smith
Alberta Presutto
Harold Sparks and
in honor of Aiden Spaeth
Firefighters at Wright
Patterson AFB, OH
Brian Stanley
Stephen Foland
Thomas and Monika
Williams
Nathan Thomas
Tom and Kim Whitecotton*
David Lynn Waddle
Sulema and Jose Aguillon
Charles Ainsworth
Sheryl Alexander
Robert and Carol Bryce
Nikki Hirsch
Rita Janoe-Ellinger
Lucille Klingler
Yen-Chi Le
Amy Mullin
Phyllis Roberts
Karen Williams
Peg Weaver
James and June Murphy
Stephen Weaver
Ruth and John Heis
Larry Hersam
Barbara and Joseph Lesak
Susannah Jacqueline White
Amy and Klane White*
Jennifer Wingate
Mel and Millie Anhalt
Maxine Birch
Johnnie and Will Haltom
Robbin and Anita Hodgkins
Ingo Kuenzel
Marilyn and Albert McGee
Myrtle Redus
Kay Thompson
Stacy Turowski
Matching
Gifts
Bank of America
CA, Inc. Matching Gifts
Program
ITW Foundation 3-for-1
Matching Gift Program
Merck Partnership for
Giving
PG&E Corporation
Campaign for the
Community
Schneider Electric/
Square D Foundation
Yum! Brands Foundation, Inc.
Fundraisers
Ascension Health MPS
Jeans Day fundraiser
Chapin family golf
fundraiser
Clarke family MPS Day
fundraiser
Fletcher family California
Pizza Kitchen fundraiser
Gibson family — Clara’s
Courage fundraiser
Guajardo family Krazy Socks
fundraiser
Help Aiden Spaeth
Extinguish Hunter
Syndrome
golf fundraiser
Hill family MPS Day
fundraiser
Kris Klenke — Silpada
jewelry sale
Eric and Vickie Merrell —
Sean and Cody’s Trivia
Night
Cindy Miller class
presentation fundraiser
Montgomery MPS Day
fundraiser
Montgomery Links for Lucas
fundraiser
Muller family MPS Day
fundraiser
Schnare family Logan’s
Heroes fundraiser
St. John’s Reformed Church
MPS Day bake sale in
honor of Austin Nace
St. Patrick’s Church MPS
Day fundraiser
Donations
Accenture
Timothy and Michelle Annis
B & M Trailers, Inc.
Kay Barry
Amir Belson
B.L. and Ann Bickham
Cheryl Bien*
Lorraine and Frank Bien
BioMarin
Richard and Dorothy Bosse
Fred and Nancy Bucher
James and Marcelene Casey
Justin Cimolonski
Amanda Crawford*
William and Laura Dapper
Dennison Electric, Inc.
Debra and Edward Donovan
Susan Downing
Jean and Al Ducham
Geri Lynn Edwards*
Rodney and Kathleen Finzel
Janet Forde*
Stephen and Kimberly Frye*
Haiyan Fu
Timothy and Roslynn Garvin
R.C. and V.A. Gates
Michael and Marcia Geller
Genzyme Corporation
Giles and Associates
Consultancy
David Giuffrida
Dennis and Christine Goggins
Luis and Angela Guajardo*
Susan Healy
Muhanad Jawad
Gary and Paula Kacer
Mr. and Mrs. James Kalteux
John and Janet Kappel
John and Janelle Kunellis
Cheryl and Lloyd LoCascio
Douglas MacLeod*
Troy and Dianne Mitchell*
Mitchell and Cheryl Moore
Scott and Patricia Morris
Rene and Patricia M’Sadoques
Paul Murphy
Carol Nareski
Elizabeh Neufeld
Mary Anne Oliger*
Thomas and Vickie Patterson
Mark and MaryEllen
Pendleton*
Beth Pletcher
John and Isabella Rodrigues
Carl and Donna Rose
Evangelina and Sammy
Santos
George and Athena
Sarantinos
Calogera Simonaro and
Edward Schuchman
Lorna Shannon
Greg Sharrits*
Kevin Sheridan
David and Rebecca Silkey
Mike and Barbara Smith
Jack and Barbara Sorter
J. Tanchek
David and An Tootill
Trimble County High School
Claude and Roselyn Wells
Tom and Kim Whitecotton*
Whitney Young Children’s
Foundation
Russell and Alice Witt
* Annual Fund donor
7
Family News
Jessica Moore (MPS I)
8
I am one of the Advisors for SADD/FOR at Ross A. Lurgio Middle School in Bedford, NH, where
we recently celebrated Disabilities Awareness Week. To kick off the week, there was a school-wide
assembly in our theater to inform students about various disabilities. One of those we highlighted
was MPS. We held a fundraiser to help find a cure and to celebrate the courage of our friend, Sam
Caswell (MPS I).
In addition, we are ordering a purple polo shirt for Sam. Sam is thrilled and says, “I will wear it the
first day of school.”
One of the most wonderful aspects of putting together this presentation was getting to know Sam
better. May we all work together to increase awareness and find a cure!
Carrie DeBell
We were blessed when Jessica was born but did
not know the true meaning of blessings. Jessica
was 17 months when she was diagnosed with
MPS I. She had plenty of congestion, a kyphosis
that doctors said she would outgrow, a heart
murmur that didn’t go away after a year, clouded
corneas and glaucoma. She was
the first grandchild on both sides
of our families and she was doted
on constantly. Now she is almost 12
years old and her perseverance and
strength inspire us and those she
encounters.
When she was diagnosed our life
stopped. We locked the doors and
didn’t answer the phone. We were
in denial that this beautiful little
girl was going to die if we didn’t put
our faith in the hands of others.
But we were blessed. We live in
Minnesota about 15 minutes from
the University’s Fairview Hospital.
We saw a special on the news about
another little boy who was having a bone marrow
transplant (BMT) for this disease we had never
heard of and that the University of Minnesota
specialized in their care. We were connected with
the specialists and three months later Jessica had
a BMT. Again we were blessed to have found a
donor willing to give a precious gift.
Fortunately we also found a great support
network. MPS families had a “meet and greet”
picnic for us and we were instantly connected
with the Society. Our family did fundraising and
people we have not been in touch with for years
stepped forward to help. I was able to care for
Jessica every day while Jason had the freedom to
come and go from work at odd hours depending
on Jess’s needs.
Jessica is celebrating her 10th anniversary of the
BMT. She is now going into the 6th grade! She
loves to swim, dance, sing and ride a bike. She has
been in several plays and has earned the bronze
award for Girl Scouts. We hike and camp every
year and Jessica is always determined to make the
best of every situation. She has vision problems,
among others, but she is a remarkable friend,
cousin, student and daughter. She reminds me
to be carefree and live every day as your last. We
have had 10 more years with her and every one
is a gift from God. She is our miracle and a true
blessing.
Colleen Moore
Donna Weaver (MPS IV) and her
husband Harold
Family News
Samuel was diagnosed with MPS II when he was 3 years old. He is now a cute
and charming 11-year-old who is usually quiet and sweet. He is fun-loving,
active and loves to play Flatface fingerboarding, Blackriver ramps gadget and
Sports cup-stacking. Samuel loves to watch movies and videos, listen to music,
use the computer and play video games. Despite his medical, physical and
communication challenges, he remains at his utmost best as much as he can.
Samuel is usually happy and an active participant in his everyday activities and
healthcare. Samuel is well-accepted by other children. His pediatrician calls
him “Master Samuel Santos.”
Samuel’s health is monitored by the excellent UCSF Specialty Multi Medical
team, the Bay Area Pediatrics Group and community agencies. Samuel
currently is involved in the MPS II HOS study process at Oakland Children’s
Hospital. Research is ongoing, and our commitment to Samuel continues.
Samuel Santos (MPS II) and his sister Samline
Samuel must continue to develop his academic, communication and cognitive
skills so these skills may solidify before they begin to regress due to his disorder.
His quality of life will depend on the quality of the education and medical treatment he will receive.
We will continue to hope that the enzyme replacement therapy and other research study will benefit
Samuel.
Evangelina Santos (mother of Samuel, MPS II)
Sydney VanHook (MPS I)
Clay Howard (MPS II) playing Challenger
Division baseball
Sasha Segal (MPS III)
Andrew Cochenour (MPS II) lives in Clarksburg,
OH, and attends the Pioneer Center. In May,
Andrew and his schoolmates attended the Special
Olympics at the Rio Grande College in Rio Grande,
OH. He received a ribbon in bowling, a 3rd place
medal in the softball throw and a 5th place medal
in the 25-meter walk. Way to go, Andrew!
Andrew Cochenour (MPS II)
Patrick Cochenour, 9-year-old brother of Andrew
(MPS II), is in the 3rd grade at Adena Schools in
Clarksburg, OH. Each student in Patrick’s class had
to select a famous person and do a report on them.
Patrick chose Elvis Presley. Patrick’s grandma,
Flossie Pryor, made him the Elvis costume to wear
when he gave his report.
Patrick Cochenour wearing his Elvis costume
9
Family News
Born July 29, 1981, Eddie Bell Jr. weighed 5 lbs.,
11 oz.—a healthy, normal child; we thought. As
months passed, Eddie began to have chronic
bronchitis, eye and ear infections, leading
eventually to tubes in his ears. As parents we
thought this was normal—all kids have some
of these symptoms. We later found out he had
ptosis, which means the eyelid muscles are weak.
We felt we could deal with that. At age 2 surgery
was done to correct this problem.
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.
When Eddie was 4 we began to notice hard
knots on his fingers and wrist. He also started
having migraine headaches. I talked with his
pediatrician who said not to worry, he would grow
out of whatever it was. Eddie then developed an
abdominal hernia; it was one thing after another.
We still thought these were just normal childhood
problems.
Almost a year later Eddie was diagnosed with
MPS I. This could not be happening. How
could this be? It must be a mistake. How could
this happen to us? I thought I would never stop
crying. The words hurt and pain cannot describe
the feelings I felt as a mother for her child. At
that moment our lives changed as we knew it.
As we tried to pick up the pieces in our lives, I
grieved my son’s life. I took it hard. From age 5 to
12 Eddie’s health was managed by constant care.
Doctor visits to monitor his heart, lungs, digestive
system, vision, hearing, dental, orthopedic,
physical therapy and occupational therapy. In
1993 my husband and I separated and I became
a single parent.
At age 13 Eddie broke his right hip in a freak
accident. He had two major surgeries and almost
died. I moved back home with my mother. My
job allowed me to go on Family Medical Leave
and later work from home. My mother cooked
and I cared for Eddie. Eddie’s love for art kept
him company while confined to bed for three
months. He never complained, he just wanted to
get better.
Eddie’s high school years were up and down.
He was sick often with respiratory infections. I
thought I would lose my mind, but I had to stay
strong for Eddie.
In 1998 my mother died, and a year later
Eddie’s best friend was killed. Eddie’s prom
and graduation was a time of grief instead of
happiness. In 2000 his hip became dislocated and
he developed a restrictive lung disease. Following
that Eddie did well until 2003 when he began
to get sick again. In July of that year he began
to receive Aldurazyme infusions and his health
began to improve, until 2005 when he developed
a serious respiratory infection. At present Eddie is
doing well. The treatments have really improved
his quality of life. It has changed Eddie’s life for
the better.
I am now legally blind and am no longer able
to drive Eddie to his doctors appointments. I
am no longer working. Due to the stress from
daily living, my job, my condition and Eddie’s
condition, I guess it all caught up with me. It
is very important to take care of yourself when
taking care of a loved one with a critical illness.
Debra Bell (mother and caregiver of Eddie, MPS I)
Debra and Eddie Bell Jr. (MPS I)
Debra Bell is a colleague of mine. She and Eddie are a typical mom and son pair. In the beginning it
was difficult for Debra to accept her son’s illness. He was so normal as a baby. As the years have gone
by, she has accepted that their life can and should be lived as normal as any other family. In many ways
what they have gone through has contributed to growing her in wisdom and compassion toward life
and other lives.
10
Daphne Hardin
International MPS Awareness 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 ordered purple MPS awareness T-shirts with the names of our son and daugter on the back of
them. Morgan, 4, and Blake, 2, were just diagnosed this year with MPS III. My husband and I went to
preschool to hand out the T-shirts to Morgan’s classmates on May 15. We also handed out treats and
explained to her classmates a little bit about MPS III. Our co-workers, friends and family members
also wore T-shirts in support.
Together with Stacey and Lew Montgomery, we are planning an awareness event in Cedar Rapids,
IA. The local news sports caster will be the master of ceremonies, and Dr. Ebach from the University
of Iowa will talk about how she diagnosed both Lucas and Morgan. There also will be a parent panel
for questions and answers and a power point presentation by Lew and Stacey’s daughter on how
Sanfilippo has impacted Lucas’ life.
Jill McDermott (mother of Morgan and Blake, MPS III)
I used the power of the Internet to get people to wear purple on MPS Day. I contacted family in
Illinois, Florida, Minnesota and California. I also posted a reminder on my Facebook page. I e-mailed
my local radio station to see if they would put an announcement out.
Andrea Fay (mother of Isabella and Makenzie, MPS VI)
I will think of you…but I do that every day. I will care for you. I will be glad for all that’s been learned
and hopeful for all that is yet to be learned!
Phyllis Feibelman (mother of Petey, MPS II)
International MPS Awareness Day
International MPS Awareness Day 2009
I sent an e-mail about my daughter, Allison Restemayer (MPS I), that mentioned her video on You
Tube (www.youtube.com/watch?v=R96kiLWUhgg) meant to raise awareness. I asked that everyone
forward the e-mail to everyone and anyone. I also brought purple ribbons to the office and requested
that people wear purple and/or a purple ribbon.
Jennifer Restemayer (mother of Allison, MPS I)
11
International MPS Awareness Day
Dorothy Mask (mother of Ryan, MPS III) sent e-mails containing the message:
GOT YOUR PURPLE ON?
TODAY IS MPS AWARENESS DAY
We sent an update on MPS awareness day about Sydnee (MPS I) and the National MPS Society.
Robb, Trisha, Sydnee (MPS I) and Andrew Jensen
I sent correspondence and posted a note on
Facebook asking people to wear purple, and to
take the time to read something, learn something
and teach something about MPS. I also asked for
a few prayers for the families who have lost loved
ones to these disorders, for the families currently
dealing with the real life challenges of MPS, and
for the doctors and research teams working to
find treatments.
I wore purple at the hospital while Danny was
getting his 136th infusion of Elaprase. During
this hospital visit I was approached by the senior
marketing manager of the children’s hospital to
participate in a video for “Speak Now for Kids,”
an organization that is working with children’s
hospitals around the nation to urge Congress
not to rush through healthcare reform just for
the sake of being able to say it’s done. They
need to take the time to really look at childrens’
healthcare and understand that kids’ needs are
different from that of adults. Especially kids like
Danny with rare and devastating disorders. So
who better to make this plea than the families who
deal with the healthcare system on a daily basis.
I will be featured in a video of families talking
about healthcare and insurance problems they
have come across and asking Congress to “Speak
now for kids.” I was able to give information
about Hunter syndrome, the cost of enzyme
replacement therapy, the shortage of local
pediatric specialists willing to accept Medicaid,
and the hoops we have to jump through to make
sure Danny keeps his Medicaid so we don’t get
buried in the deductibles and copays. I hope I
touch enough hearts in Congress so they take the
time they need and really make changes that will
not only make things better for my family, but for
all the other families out there facing the same
struggle we are and more.
Carolyn Hinton (mother of Danny, MPS II)
We had the paper run an article to alert the community of MPS,
and a cookout, bake sale and raffle. We raised money and spoke
with individuals about MPS and its effects. I also contributed to
Stacey Montgomery’s excellent video pictures of Clara and shared
this on Facebook and everyone on e-mail. We spent the evening
going out to a family diner and spoke with people in the restaurant
about MPS. We rented videos for the kids. A long emotional day of
ups and downs but worth it to raise money and awareness for MPS.
Jenifer Gibson (mother of Clara, MPS III)
12
Clara Gibson (MPS III) celebrates MPS Day
following week will be “Random Acts of Kindness”
week at the school. It is amazing that one little
letter can bring a school together to help kids
who may have a tougher time fitting in due to
various conditions and circumstances. The books
I have written about Sam will be out and the kids
are making posters with all kinds of information
about MPS to make everyone in the entire school
more aware. Sam’s sister, Jenna, and her group
of friends all wore purple to high school as well,
explaining MPS to those who asked why they all
had purple on. We also watched a movie as a
family and just celebrated being with each other.
We feel truly blessed to have both Sam and Jenna.
International MPS Awareness Day
Sam’s school had purple ribbons for all of the
students and teachers to wear for MPS Day. An
announcement was made for the children and
staff to wear purple and there were a lot of purple
shirts coming out of the school upon dismissal,
as well as purple ribbons hanging in classrooms
throughout the school. I had written a letter
to Sam’s school principal explaining that MPS
Awareness Day is often celebrated by only the
family of the child with MPS because it is a disease
that is not well known. His school is going to have
another MPS Day in addition to several other
“disability days.” There will be a skit performed
by several children, one of whom will be Sam,
explaining the difficulties of being in middle
school having differences or disabilities. The
Heidi and Keith Caswell (parents of Sam, MPS I)
The Ice Cream Corner (my store) raised $200 in three days for MPS Awareness! I had a big picture
of my granddaughter, Allison Restemayer, up with an information page about MPS. I placed a sign in
our window announcing MPS Day, and I answered a lot of questions from my customers. I ordered
wrist bands to give to my special customers who gave so much. I sent videos of Alli and Ashley to more
than 50 people.
In addition, my daughter, Jessica, and her husband teach at a small college in Southwest Minnesota.
At a meeting, Jess shared with her friends the cards of Alli’s picture and story. One man who just made
out a check for the college booster club saw it, ripped up his check and made one out to MPS for
$450! He said Alli needed it more than any booster club.
Janelle Kunellis (grandmother of Allison, MPS I)
Wal-Mart #1042 in Bastrop, TX, tried to raise enough pocket change to equal Mikey’s weight (63 lbs.)
and well-surpassed their goal. I also shared MPS facts and info at our store meetings several times a
week. At the end of the month Mikey joined our meeting. We celebrated the courage of Mikey and
all of our MPS families.
Star Bowen (mother of Mikey Beaver, MPS II)
On May 14, Luke was at the hospital to have his weekly ERT, so the night before we made sugar
cookies with purple candy sprinkles and took them with us to the hospital for all of the MPS ERT
treatment staff. We also celebrated by making purple ribbons for MPS awareness and giving them to
all of Luke’s ERT treatment doctors, nurses and office staff.
Chet and Bethany Chambers (parents of Luke, MPS I)
13
International MPS Awareness Day
We met with the members of the St. Joseph National
Jr. Honor Society, who chose the MPS Society as
one of the charities to give to this year. We also had
lunch with Shalom Garcia (MPS I) and her dad,
stepmother, sister and nephew.
Angela Guajardo (mother of Karina, MPS III)
Members of the St. Joseph National Jr. Honor Society with
Luis, Annissa and Angela Guajardo
Utah MPS families celebrated International MPS Awareness Day at Hogle Zoo in Salt Lake City. We
had five MPS angels enjoying the day with their parents, siblings, and new friends they met who
had lost loved ones. There were 12 families that lost MPS children, included grandparents, parents,
siblings, nieces and nephews. This day was a celebration of life, and the memories of those who are
no longer with us. New friendships were formed, and reunions with families that had lost touch were
beautiful to experience.
I hope you all spent time enjoying your MPS experiences, as we did in Utah. My family’s MPS
experience was a blessing we didn’t want, but are thankful for. I would not know any of the families I
spent the day with at the zoo without MPS. I am friends with many beautiful, caring families because
of MPS.
Mark Kristensen (father of Matt, MPS II)
Utah families celebrating MPS Awareness Day at Hogle Zoo
My mother-in-law purchased courage bracelets and distributed them with our fundraiser letter.
My mother and a friend (pediatric doctor) held a Bagolitas Purse Party with 15 percent of all sales
going to MPS. I also sent out a mass e-mail to colleagues, coworkers, family and friends about MPS
awareness and attached our fundraiser information.
14
Jamie Fowler (mother of Jack, MPS II)
International MPS Awareness Day
I made about 400 purple ribbons that I attached to cards that said: “MPS Awareness
Day. Please wear this ribbon to show your support. Waverly & Oliver McNeil have
MPS III, a terminal genetic disorder without a treatment or cure. Please visit
www.mpssociety.org for additional information.” I dropped 50 off at Waverly’s school,
handed one to every doctor/therapist/friend, and Matt took about 300 in to work at
the State Department. I also bought 300 grape lollipops and put a sticker on each that
said “MPS Awareness Day” and gave the MPS Society’s Web site. We gave those away
to the students at Wavey’s school and at Matt’s office. Waverly’s school gave a brief
synopsis of MPS Day on the morning announcements and the teachers were given
detailed information on their handout.
I reminded my friends and family via my blog and Facebook to participate in MPS
Awareness Day by wearing a purple ribbon or wearing purple and telling their friends
about this devastating disease.
Oliver and Waverly McNeil (MPS III)
We have received wonderful feedback from people who wore the ribbon and wanted
to learn more about Sanfilippo syndrome. It is my hope and prayer that the more
people we can educate on this terrible disease, the more attention we can receive, will result in more
funding so we will find a treatment and cure!
Shannon McNeil (mother of Waverly and Oliver, MPS III)
Adam, Jana and Ryan all took MPS T-shirts and
bracelets to school and gave them to their classmates
and staff. We sent home notes with information
on MPS. The principal announced that is was MPS
Awareness Day. The local newspaper took pictures and
printed an article about our family and Ryan’s siblings’
perspective of MPS. My sister-in-law, Sara Hunt, took
cupcakes to work and handed out little cards with the
MPS Society Web site on them. She even had some
people give her donations to pass along.
Marie Hunt (mother of Ryan, MPS II)
Ryan Hunt and classmates
Lisa works in an elementary school and the staff of the school donated money to dress down on
Friday, May 15. There also was a lot of purple being worn that day with purple ribbons. Some of the
staff made T-shirts that were in honor of Riley, and we had several people ask us about MPS. Lisa also
belongs to a singing and dancing group called SNAP and several of the members donated money
toward MPS research. Riley’s cousin, Abby Swierz, goes to a Catholic school in London, OH, and all
of the students donated $1 to dress down in honor of MPS awareness. The school raised $224. Robb’s
colleagues have been donating a minimum of $2 to dress down on Fridays for the past three months
in the name of MPS.
Robb, Lisa, Donovan and Riley (MPS II) Muller
15
International MPS Awareness Day
I wrote an update in Sasha’s Caringbridge journal and mentioned
that International MPS Awareness Day was coming up. Sasha’s 5th
grade teacher, Mrs. Hilliard, and her 1:1 aide, Barbara, read my
journal entry and had some ideas.
Sasha (MPS III) with her 5th grade class
They had the 5th grade class wear purple T-shirts and take a class
photo with Sasha. Mrs. Hilliard’s mom owns a local newspaper; we
ended up with a front-page photo and a beautiful paragraph about
Sasha and the disease. The kids made a banner that said COURAGE
in purple that they all signed with notes to Sasha. I have it hanging
in her room.
Slowly, the whole school got on board. The teachers and even the
principal wore purple. The kindergarten class made purple headbands that said “Courage.” Sasha was
given the student of the week award in honor of MPS Day.
The school assembly that day was a movie that Sasha’s 5th grade teacher and the 6th grade teacher
did, a project on Sasha and Sanfilippo syndrome for a graduate course they are taking. They put
together a beautiful video about Sasha with chronological photos and a song called “Courage Is” by
The Strange Familiar played in the background.
Purple ribbons were given out at school that day as well, (made by Mrs. Hilliard) and I also gave out
purple courage wristbands to the teachers at school. When I came to pick Sasha up that day, the 5th
grade class waited for me at the door all lined up, holding the courage banner they made for me and
for Sasha. I couldn’t believe all the heartfelt effort put forth by so many individuals. It was a really
emotional day, but so rewarding!
Joanne Huff (mother of Sasha, MPS III)
We were able to put a banner and lawn signs with photos of some of our MPS friends at our son
Will’s school and daughter Nicole’s school. Our friends, the Crabtree family, made more than 300
awareness ribbons with Will’s name on them. We put ribbons and MPS awareness cards in the office at
Will’s school and in the backpacks of each child at Nicole’s school. Each child wore a white shirt with
the awareness ribbon on Friday. Nicole spoke at the assembly of 250+ at her school. She explained
MPS and spoke of her brother Will, who has MPS III. She introduced him to the group of students,
teachers and parents. The video clip is on our Web site (www.miracle4will.com). We also placed a
small banner at our town hall. The mayor of our small town of 2,400 proclaimed June as Will Luthcke
and MPS Awareness Month at the council meeting on May 19. We also left awareness cards and a flyer
about our upcoming yard sale. We were featured in a three-minute segment on the local NBC news
channel and a write-up in the Birmingham News.
Misty Luthcke (mother of Will, MPS III)
To celebrate International MPS Awareness Day we sent letters to our family and friends telling them
about MPS Day and asking them to partner with us to raise money for the Society. It was our goal
to get 35 donations to celebrate the MPS Society’s 35th anniversary. We also celebrated by buying
35 purple balloons and inserted a message about the MPS Society inside each balloon. We included
the Society’s name, address and Web site. We wrote that our son has Hunter syndrome which is very
rare. We had Cheyenne send off the balloons one by one. He enjoyed letting them go. We continued
our celebration at McDonald’s, Cheyenne’s favorite place to eat.
Cheyenne (MPS II)
16
Skip, JoAnn, Cheyenne (MPS II) and Travis Hill
International MPS Awareness Day
Ciara and Hunter have MPS III, so for MPS Day we all wore purple, of
course. I made sugar cookies and wrote MPS in purple icing, and I made
heart-shaped purple Jello Jigglers and wrote MPS on them with white
icing. I bought purple balloons and purple Gatorade and Ciara and I
went to Hunter’s school to celebrate MPS Day with his class. I set up a
table with a purple tablecloth, plates and purple bows, and the teacher
spoke to Hunter’s classmates about MPS. Hunter hasn’t been able to eat
much by mouth lately but for MPS Day he managed to eat two Jigglers
which was a lot for him. After the kids inhaled all the snacks, we all walked
to the playground and had a balloon release in honor of all MPS kids
and in memory of my sweet Tommy who passed away five years ago when
he was 4 years old. All the kids let their balloons go except for Hunter,
but with some help, he finally set his free and it didn’t take long for his
balloon to catch up to the others and they all found their way to our MPS
angels in heaven.
The Bennett family celebrates MPS Day.
Alicia Bennett (mother of Ciara and Hunter, MPS III)
The students of Poquoson Primary School celebrated
National MPS Awareness Day with Mackenzie. In
honor of the event, a bird feeder was placed in front
of the school that will eventually become a garden.
Mackenzie’s teacher, Mrs. Heckle, read a poem
welcoming birds to the feeder. The students each
tossed a cup of bird seed in the direction of the bird
feeder. Mackenzie’s classmates also spoke about
why Mackenzie is special to them. It was a beautiful
morning filled with love for Mackenzie.
Mackenzie with her teacher, Mrs. Heckle
Celebrity night for MPS was held at the Crabcake
House in Poquoson, VA, on Saturday, May 16, to raise
money for the National MPS Society in conjunction
with National MPS Awareness Day. The event
brought in quite a crowd with tips totaling $1,450.
With a percentage of the sales from the evening
and employee contributions, the Crabcake House
contributed an additional $550 to bring the grand
total to $2,000! Heartfelt thanks were expressed
to the owner, Margaret Famiglietti, for hosting the
event again this year.
Jennifer Clarke (mother of Mackenzie, MPS III)
Mackenzie Clarke (MPS III) with the celebrity waiters
and Margaret
17
International MPS Awareness Day
I took purple frosted cookies that I made to
Children’s Hospital. The student pharmacist I
was working with also made cookies with white
frosting with purple ribbons. She also bought
little bags and purple ribbons and printed out
templates that had purple ribbon with the word
“HOPE” which we tied onto the bags and laid
out for anyone coming into the pharmacy to
take. We also had a lot of different pamphlets.
I made posters with pictures of our kiddos with
the different disorders, as well as put out the
decorated kite from last year. Overall I think
it looked really lovely and was a great location
given that most every patient and family had
to bypass that area coming from the parking
garage to get into the clinics and hospital. It was
really kind of neat to be on the ‘inside’ of the
pharmacy in the back room seeing where they
compound prescriptions (this is where we put
together the bags with cookies/ribbons, etc.)
and to listen to Jake the owner talk about his
experience when he first met me and looked up
MPS as well as answering all of Ledia’s questions
on what MPS is, how it has affected me, etc. and
how different it was for her to see someone in
person with the disorder vs. initially just reading
about it after Jake talked to her about me. It was
neat and totally something different! I think if
we educated even a couple people and providers
(and I’m sure there were a lot more than that as
the pharmacy is always very busy) on what MPS is
then I think our goal was accomplished!
Erica Thiel (adult, MPS I)
On National MPS Awareness Day Andrew
was surprised when he came to school
at the Pioneer Center in Chillicothe,
OH. Everyone in his school—students,
teachers, aides, janitors and bus drivers—
were wearing MPS shirts. Andrew’s teacher
sent a note home with every student
explaining about MPS and encouraged
everyone to log onto the MPS Web site to
learn more about MPS. Andrew’s mom,
Sharon, brought in pizza, cookies and
juice for all in the intermediate grades.
Andrew Cochenour with classmates
The family of Andrew Cochenour
(MPS II)
We notified all the local TV and radio stations with Brinley’s story, an explanation of MPS, and Brinley’s
song and pictures. We also notified local businesses in our county and the surrounding area. They all
hung wreaths with purple flowers, wore purple shirts and purple ribbons, and handed out Brinley’s
Web sites. We also notified the schools. They too wore purple and handed out purple ribbons and
had a moment of silence for Brinley. We went to the zoo in Louisville where we spoke of Brinley’s
story and gave purple ribbons attached to Brinley’s card. Because Memorial Day was only 10 days later
we stretched out our celebration. Each day we went to a different place in the county and planted
purple flowers in honor of MPS awareness and Brinley. On the last day we planted red because that is
Brinley’s favorite color. Then on Memorial Day we released 15 balloons (one for each month of her
life). Again 14 purple and one red. Attached to these balloons were tags that I made with Brinley’s
Web site and a picture of him. We will continue to do this year after year and maybe someday we will
beat this disease. I have dedicated a lot of time to fight as hard as I can now and forever.
Amanda Craig (mother of Brinley, MPS I)
18
International MPS Awareness Day
I wrote a song in memory of my children (Jason, Angie and Nathan). The song tells about the night
we were told our first child Jason had the disease (MPS I). The last verse tells of the day Jason died.
Terri Walden (mother of Jason, Angie and Nathan, MPS I)
Jason’s Song
The doctor gave us news about our little boy that night.
I left the room, stood in the rain, and all my prayers seemed in vain and I cried, Oh! I cried.
Lord, you took my heart, broke it in two,
I bowed my soul before you asking, “What did I do to deserve all what I’m going through?”
What I’m going through.
Then I heard God say,
“My child I love you so, there’s just one thing you need to know,
The pain you’re going through,
I’ll carry you, I’ll carry you through the darkest night, carry you, carry you till the light
Carry you, carry you, carry you through.”
As our boy got worse, our faith grew strong.
From God’s strength and peace provided
Morning came, morning came I heard God say
I heard God say in that still small voice
“I’m carrying you away, carrying you away.
“I’ll carry you, I’ll carry you through the darkest night, carry you, carry you till you see light
Carry you, carry you, carry you through.”
God alone is faithful and true.
God alone knows what’s best for you.
So when you don’t understand
and when you don’t see His plan
and you can’t trace His hand
Trust in His heart, Trust in His heart.
You through the darkest night, carry you, carry you till you see light
Carry you, carry you, carry you
I carried him through his darkest night
Carried him till he saw the light
I carried him
I carried home
He said son, son welcome HOME.
Words by Terri Walden
Music arrangement by West Steiner
19
International MPS Awareness Day
We organized and hosted a “Philanthropizza” fundraiser at our local California Pizza Kitchen
(see page 27 for more information). In coordination with International MPS Awareness Day, we
approached the two local schools our children attend with the idea of publicizing information about
MPS and the National MPS Society in addition to supporting the event by distributing flyers to all
staff and families that attend each school. We received full support from the administration and
PTA at each school who ensured National MPS Awareness Day was recognized, and the flyers were
distributed both in paper form to every student and electronically via school e-mail blasts. The result
was an outstanding success that generated more than $1,100!
The Fletcher family
Greg, Sarah, Andrea, Ian and Erik (MPS II)
The sadness of your child “not being like all the other children his/her age” has begun. On more
than one occasion, each one of the boy’s classmates has made a comment about Trey (MPS IV) and
his differences. I decided to take matters into my own hands to raise awareness of MPS by educating
people on just how “special” Trey is.
Along with signing up to bring snacks for his class on MPS Day and his birthday, I also brought
awareness of Trey’s disorder. I had a photo card made that I attached to the treats, along with a cute
picture of Trey, this poem and his blog address.
My name is Trey,
my birthday’s TODAY!
I may look different…
more like “special” I’d say!
Along with the treats
I was hoping that
you’d take a peek
to find out why…
I’m such a “Special Little Guy”!
www.ourtreystreasures.blogspot.com
Trey Lane (MPS IV)
My wish is that parents will visit Trey’s blog, read about his journey and explain to their children
in simple terms why Trey isn’t exactly like them. My prayer is that the more friends Trey has who
“understand” his condition, the less likely they will be to look at him differently, and maybe even
explain to other kids how cool Trey is.
Mike and Cami Lane (parents of Trey, MPS IV)
We held a family picnic for International MPS Awareness
Day. It was an incredibly cold day—windy with a high of 40
degrees! Those who endured the weather were rewarded
with hamburgers and hot dogs, and we had a raffle of
prizes from local businesses. We posted invitations to
the five surrounding states and even went to schools and
hospitals. A family from Florida was staying at the Ronald
McDonald House and braved the cold. It really was great
to see new faces and revisit with old pals.
Colleen, Jason, Jessica (MPS I) and Ryan Moore
Moore family picnic
20
The Society is fortunate to have families and
friends throughout the year contacting us with
the excitement of hosting a fundraising event
to increase awareness about our cause and to
raise funds for the Society. The evolution and
creativity of ideas in fundraising have been a
pleasure to follow and to see carried out by our
dedicated families.
Every so often we have the inquiry about hosting
a joint fundraising event, which is an event
hosted by one or more coordinators that raises
funds for two or more unrelated organizations
and their missions. For example, a charity dinner
that issues proceeds to both the National MPS
Society and the Cancer Society.
As a nonprofit, we act as the intermediary
between donors and beneficiaries and have an
ethical obligation to ensure proper handling
of funds to carry out our mission. Nonprofit
fundraising should be conducted according
to the highest ethical standards with regard to
solicitation, acceptance, recording, reporting
and use of funds. Nonprofits should adopt
clear policies for fundraising activities to ensure
responsible use of funds for designated purposes
and open, transparent communication with
donors.
The Fundraising Committee at this time is
finalizing a Joint Fundraising Policy. There are a
number of issues to consider when coordinating
a joint event:
• For ease of recordkeeping and reduction of
complexities, fundraiser coordinators wishing
to raise funds for another organization, in
addition to the Society, are encouraged to
conduct separate fundraising events for each
organization.
• I f extenuating circumstances exist that make
separate events impractical, fundraiser
coordinators should contact the development
director to submit a joint fundraising plan for
consideration.
•E
vents must comply with the Family Fundraiser
Reimbursement Policy by keeping thorough
records of all monies received, expenses
incurred and paid, formal request submissions
(using the MPS Society reimbursement form)
and all sponsorship funding recognized.
•U
pon approval of the fundraising plan by the
Fundraising Committee—taking into account
such issues as estimated donations expected,
clarity to the donors, impact on other Society
sponsored events, etc.—the joint fundraising
event will be considered a Society sponsored
event subject to the corresponding benefits
and obligations.
It is our obligation as a 501(c)(3) nonprofit to
provide clarity, documentation and to protect
our donors.
As the Fundraising Committee finalizes the
development of the new Joint Fundraising Policy,
we encourage any questions or comments you
have, which can be directed to Steve Holland,
Fundraising Committee chair, at steve@
mpssociety.org, or Terri Klein, development
director, at 919.806.0101.
Fundraising News
Joint Fundraising Policy
Fundraising
Committee:
Steve Holland, chair
Steve Chesser
Ernie Dummann
Steven Frye
Anne Gniazdowski
Angela Guajardo
Larry Kirch
Terri Klein
MaryEllen Pendleton
Naureen Sayani
Laurie Turner
Barbara Wedehase
Amy White
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.
21
Fundraising News
Sponsor a Child for a Cure
Each year we have families inquiring how can we
do more for our children. How can we make a
difference and help raise awareness and funds
for MPS and related diseases research? How can
we participate in a walk/run event if we are not
able to host one ourselves and cannot attend
another?
The Society wants to provide an opportunity
for each family and their loved one affected by
MPS or related disease to participate in a nearby
walk/run event, even if they cannot be there
in person. We understand how gratifying it is
to help raise funds for research and that each
dollar truly adds up!
Through Sponsor a Child for a Cure, families
can participate in a selected walk/run event on
behalf of your affected child, young adult or
loved one who has passed on by assigning a
walk/run participant to attend on behalf of your
family. The family, in turn, can raise sponsorship
for their loved one before the race begins.
A photograph of your loved one needs to be
e-mailed or mailed directly to the Society
office. The Society office will provide families
with sponsorship forms. Photographs will be
printed and attached to the assigned walk/run
participant who will run on your family’s behalf.
At the end of the race, a photo will be taken
of the participant and mailed directly to your
family along with a courage award medallion.
This is a new program within the walk/run events
for the Society. We are starting this year with two
events and will grow this program into all walk/
run events next year. The assigned events this
year will be:
1. Boone, NC — Terri Klein
2. LaVerne, CA — Tami Slawson
We encourage your family to participate. Register,
get sponsors and make a donation! This will be
a truly inspiring program and an opportunity for
your family to help make a difference and fight
for a cure!
For more information, contact Terri Klein, development
director, at [email protected] or 919.806.0101.
National MPS Society Receives
Three-Star Charity Rating
Having received the prestigious four-star Charity Navigator rating for the last three years, the National
MPS Society learned in December 2008 that we were awarded a three-star rating, indicating that we
“exceed or meet industry standards and perform as well or better than most charities in its cause.”
The board of directors has reviewed Charity Navigator’s detailed ratings table and scoring system in
order to identify ways to earn a few more points to regain the four-star rating.
Sean and Cody with their sister Amber and friend
at their successful trivia night fundraiser
22
Fundraising News
Walking for a Decade, and Still Going Strong!
The National MPS Society’s annual walk/run events are some of the most successful fundraisers by
simultaneously raising funds and awareness. Offering high visibility and tons of fun, these events draw
thousands of participants across the country. This year marks the 10th anniversary of the inception
of three of the Society’s annual walk/runs.
Ryan’s Run
Dorothy Mask, with the help of her parents,
Fred and Joyce Koehler, has been hosting Ryan’s
Run every year since 2000. Held at Lenape Park
in Sellersville, PA, more than 200 participants
attend this annual event. Dorothy has 30–40
volunteers, without whose help the event would
not be possible.
In 2000, the National MPS Society began
promoting the walk/runs as the key fundraising
event for the Society. Dorothy, a good friend of
Linda Shine who was president of the Society
at the time, admired Linda’s dream to have the
walk/runs become the major fundraising activity
for the Society as a way to get families involved
in both raising money for research and raising
awareness of MPS across the country. Dorothy
decided to host an event of her own in her local
community. She received much needed advice
from Linda and from her brother, Tom, who likes
to participate in runs and marathons. Tom was a
big help in getting the first run off the ground.
Every year, Dorothy’s mother plays a key role in
planning and organizing Ryan’s Run. She solicits
many of the donations from corporate sponsors.
Dorothy’s son Jeremy collects donations from
his classmates at school, his teachers, friends and
neighbors, and from his boy scout troop. Plaques
are awarded each year for the highest individual
fundraiser and the highest group fundraiser.
Jeremy has won the plaque for highest individual
fundraiser for the past six years.
One of the things Dorothy enjoys most about
hosting Ryan’s Run is seeing the same people
come back year after year. She has watched many
children grow up and change over the years.
People from every aspect of Ryan’s life come
out to support the event. It has meant so much
to Dorothy to have them there. Dorothy also
loves having the opportunity to educate people
about MPS.
For Dorothy, every run is memorable but a few
stand out as being especially remarkable. In
2005, the event was rained out. Dorothy and her
parents sat at the park watching the rain come
down in buckets. Many avid runners came out
even though it was pouring and hoped to run,
but the course was flooded and too dangerous.
Donations came in any way and more than
$10,000 was raised that year. Another memorable
moment was in 2008 when no volunteers were
available to lead the singing of the national
anthem, so Dorothy’s brother Tom offered to do
it. He stood up and began singing “My country
tis of thee.” The crowd was confused but began
to sing along. He realized he had messed up
but it was too late to stop so he kept on singing.
When he was finished he said “Play ball” and left
it at that. They still tease him about it today.
Every year, Pennsylvania State Representative
Paul Clymer attends Ryan’s Run. He always talks
about Ryan which makes Dorothy very proud.
She loves being able to share stories about Ryan’s
life. Dorothy’s nephew Jonathon, who is like a
brother to Ryan and Jeremy, attends Ryan’s Run
every year.
Dorothy doesn’t worry about how much money
they raise, what is important to her is having the
opportunity to teach people about MPS and to
keep alive Ryan’s memory. Dorothy continues
to do fundraising for the MPS Society because it
helps release the feeling of helplessness. It allows
her to focus her energy on something positive
and it gives her a great deal of satisfaction to
know that she is doing something to fight to find
a cure for this devastating disease.
Run for Erin
Stacy and Tom Peters have been hosting the
annual Run for Erin every year since 2000. The
event has been held at the Woodstock High
School in Woodstock, GA, for the past nine years.
Erin currently attends Woodstock High School.
Each year, more than 50 volunteers help with
pre-event planning, race day duties and postevent clean up. Approximately 350 participants
attend this event. Many of the volunteers are
high school students who are classmates of Erin.
In the past nine years, Run for Erin has raised
more than $190,000 for MPS research.
continued
23
Fundraising News
Tom and Stacy were avid runners. When they
received a letter from the National MPS Society
in 2000 announcing the walk/runs as the annual
fundraising event for the MPS Society, they
decided to host an event of their own. The only
problem was they knew nothing about planning
and organizing a 5K run. Participating in a 5K
run is a lot different from organizing one. But
that did not stop them. They attended a few 5K
runs in the area to see what takes place and they
took a bunch of notes. They went home and
began the process of recruiting volunteers to
help plan their first event. Their efforts paid off
and they raised $39,000 the first year, an amazing
accomplishment for a couple of amateurs.
To help them celebrate the 10-year anniversary
of Run for Erin, they will have a reporter from
the local CBS news station, CBS Atlanta, as the
cheering and applause from participants and
onlookers as she completed the race course.
Another special moment was when they hung a
medallion around the neck of Tom and Stacy’s
9-year-old daughter, Kelly, who won her age
group the very first year of Run for Erin. They
also did the same for Stacy’s father and Tom’s
mother who won their respective age groups.
One of the greatest joys of hosting Run for Erin
is that it brings their entire family together every
year. It is like a family reunion. Family members
come from Ohio and Tennessee the weekend of
the run.
A Run for Erin board of directors has been created
and is made up of Gene and Laurie Sanders,
Jana and Randy Clift, Virginia Richards, Ginny
Hardwick, and John and Donna Richardson.
Each of these members takes on a responsibility
and makes sure everything gets done. There
would not be a Run for Erin without them.
Many other MPS families have attended Run for
Erin over the years including the Frix family, the
Shumantine family and the Prince family.
Run for Erin
Grand Marshal. They are hoping to get some TV
coverage before, during and after their event
this year, something they have never had. Run
for Erin also will be featured on the local NBC
morning news segment “Mugs in the Morning.”
The morning crew will each use a coffee mug
with Run for Erin advertised on it and they will
promote Run for Erin during the morning show.
One of the Run for Erin corporate sponsors,
Chick-Fil-A based in Atlanta, is donating more
than 100 of their stuffed cows to be distributed at
Run for Erin this year. One of the cows will have
a special coupon around its neck and the person
who gets this cow will get a free Chick-Fil-A meal
once a week for an entire year.
One of Stacy and Tom’s most memorable
moments was in 2006 when they came up with
a way to allow Erin to actually participate in the
5K walk/run. It became known as “Push for
Erin.” Volunteer “pushers” pushed Erin in her
wheelchair the entire 5K course to clapping,
24
Stacy and Tom have received many rewards
through hosting Run for Erin. Organizing the
run allows them to actively participate in the
fight to find a cure for all MPS disorders, even
though there remains no treatment or cure
for MPS III B. Erin knows the event is all about
her. She sees people from all aspects of her life
including family, schoolmates, teachers, friends
and neighbors. She greets them all with her
joyous expressions and giant hugs.
5K for Katie/Do it for Danny
Linda and Mike Shine are proud to be among the
first of the 5K runs beginning in 1999. The event
has been held at the Log House Pavilion Kerr
Park in Downingtown, PA, for the past 10 years.
Initially it was just Linda and Mike along with
some friends and family members. Fortunately,
many people pitched in to help, some who were
directly impacted by family members who had
MPS, including Sue Wanstall, Les Sheaffer and
Sue Rattman; others were people who wanted to
do more to help with the cause. The effort of
raising money for research for a cure is a very
compelling argument for anyone. So, with a
needed cause and a great deal of enthusiasm,
the first 5K for Katie took place in October
of 1999.
continued
Katie unfortunately only attended the first two
events before she succumbed to the disease in
August 2002, just months before the third run.
The run has always been held on the second
Sunday in October. Linda and Mike will never
forget Katie’s spirit and determination in fighting
the disease. Many of the volunteers were caregivers and friends of the family. While it has been
10 years, many of the same people join in the
fundraising effort every year—rain or shine.
After the second year, the Miller family—Amy,
Ray, Danny (MPS II) and Haley—joined Linda
and Mike in hosting the run. Amy and Ray
brought a great deal of determination to the run
and helped expand the effort to raise money for
research. Linda and Mike were very glad to have
the added help in expanding the fundraising
efforts.
Over the years there have been many different
hands helping to raise awareness of the struggle
the families impacted by MPS face every day. The
fact that so many organizations offer gifts and
contribute in so many ways has made the efforts
very worthwhile. The runners who turn out,
from high school teams to senior communities,
makes the hard work seem easier—once the run
is finished and the park is cleaned up!
Many different events take place in conjunction
with the run—from pony riders to a cheerleading
competition. The Shine and Miller families
have been fortunate to have had almost perfect
weather each day of the run. One of the more
dicey situations was when they had rain in the
days before the run. There were flood warnings,
strong winds and severe weather warnings for
the area. They were all very anxious but reported
to the park at 5:30 a.m. as always, but watching
the creek in the park and all eyes were on the sky.
The run was to start at 8:30; at 8:00 the sun came
out and the winds stopped. The race went off
Fundraising News
Mike has been a runner for many years so he had
some knowledge of what was needed, but Linda
did most of the work in lining up parks, police
and EMT needs. What started somewhat simple
grew very rapidly. However, the unconditional
love that Katie and the other children who had
their lives impacted by MPS brought out many
people who wanted to help. Katie’s siblings, John
and Mackenzie, are now working with Linda on
the event as well.
5K for Katie/Do it for Danny
5K for Katie/Do it for Danny
with the usual suspects—more than 250 runners
that year, one of the lesser attended events. After
the last runners finished and the awards were
presented the sky grew dark and the rain started
again.
Everyone scurried to their cars, their eyes were as
wet as their faces knowing their guardian angels
had worked their magic with the weather to allow
the run to take place. They realize that those
who attend are but a few of the many who work
“behind the scenes” to help make it happen.
Most years names of the sponsors are printed
on the shirts. This year they will have the names
of the many children who have succumbed to
MPS since they started the race imprinted on
the shirts. Each represents a family and a child
whose life has been altered due to a very rare
genetic disease. While we all question why it
happens, it happens.
We realize that much has been done and there is
always more to do. The money raised by 5K for
Katie/Do it for Danny and the many other events
have made a difference in the lives of those who
come to run, to walk or to lend a helping hand…
for that we are forever grateful.
25
Fundraising News
MPS Family Helps Raise a “Lot of Dough”!
Greg and Sarah Fletcher have been members of the MPS Society since 2002 shortly after their
youngest son, Erik, was diagnosed with MPS I. Their family raised more than $1,600 for MPS with the
assistance of their local California Pizza Kitchen (CPK) restaurant. This type of fundraiser is available
throughout the country and if you are interested in hosting one of these events, we encourage you
to contact your local CPK.
Philanthropizza!
Several months ago we tried to come up with an idea for a fundraiser for MPS here in Southern
California. A friend suggested contacting restaurants in the area that have experience working with
charities. After looking around, we found that our local CPK has a program in place at all of their
locations called “Philanthropizza” which fits the bill perfectly. When guests visiting the restaurant on
a specific night bring with them a special flyer, 20 percent of their bill will be donated to the MPS
Society. The flyer can be used for lunch, dinner or even take-out. The challenge is to distribute the
flyers as widely as possible in order to draw the largest number of guests to the restaurant.
What We Did
We approached the two local schools our children attend with the idea of supporting the event by
distributing the “Philanthropizza” flyers to all staff and families who attend each school. We received
full support from the administration. The flyers were distributed both in paper form to every student
and electronically via school e-mail blasts.
Our whole family pitched in to help print flyers, organize them for distribution, make signs, purchase
purple balloons and distribute purple courage wristbands to key supporters at each school. We also
worked with our community association to pass flyers around throughout our neighborhood, in
addition to e-mailing family and friends about the event.
Great Results
The result was an outstanding success! When we showed up for dinner at the restaurant, it was
packed with people supporting MPS! The manager at CPK mentioned that fundraisers of this type
are usually able to generate between $200 and $500 for the charity since, as a family restaurant, the
average bill per person is between $15–$20. When the totals were calculated at closing time the
manager e-mailed us with the wonderful news that the MPS fundraiser generated more than $1,000
that day! Some families who could not attend sent us checks made out to the Society, which raised an
additional $600 for a total of more than $1,600!
You Can Do It Too!
We believe strongly that this type of fundraiser could be organized by many other MPS families with a
CPK (or other restaurant) in their area. This is perfect for families like ours who want to raise money
for MPS but are unable to devote the time necessary for larger events like walk/runs. This type of
fundraiser will certainly take time and effort, but with an experienced partner like CPK it is not too
difficult. We have set aside the materials we used to organize and promote MPS with CPK and our
local schools.
Why CPK is a Good Partner
This type of event is much easier with a restaurant that has a program already in place. Basically, CPK
is already set up to take care of the paperwork necessary so you can simply concentrate on getting
people to visit the restaurant. With locations in 33 states, CPK is a great family-friendly restaurant
that is perfect for this type of event. CPK’s program is designed to help you raise as much money
as possible by including money from lunch and especially take-out orders. They also offer the
opportunity to host the event over multiple days.
In these tough economic times, we believe this type of event is a definite “win-win.” Many people can
support MPS while also enjoying a nice evening out with their family and friends. You can draw on
continued
26
Because of the devastating flood of 2008 in
Cedar Rapids, IA, with many companies and
corporations forced to reduce staff, tightly
managing budgets and cutting back on donations
toward nonprofit events, we were hit with many
challenges in the planning of our 2009 Links for
Lucas MPS Golf Outing campaign. Not knowing
what to expect, we were successful at attracting
more than 30 teams to the Saddleback Golf
Course in Solon, IA, for a four-man best shot
outing on June 26, 2009. Our attendance was
stellar with 30–40 additional family, friends and
spectators who came out to support our kids. We
were honored to have two other MPS families,
the McDermott and Valdez families, participate
and take part in the joy of the day’s activities.
Lucas (MPS III) was on hand to enjoy his event
and attention from all of the pretty ladies (always
his favorite). Other families and friends made
the event worth every minute spent planning,
organizing and asking for donations. Stacey and
I worked to ensure logistically we had things
in place and that participants would enjoy
themselves as we remained focused on our
awareness cause. One participant commented
when asked if they planned to participate again
next year:
“This was our first time coming to a MPS event.
We have heard about other MPS events in the
community and we have seen Lucas and the
Montgomery’s on the local news. My wife and
I were moved by their story but we never knew
quite how or where we could get involved. Our
Fundraising News
the support of your local schools and organizations in a way that leaves everyone feeling very good
about participating. Our local CPK is excited about doing this event again with us soon and we are
going to plan it as a two-day event. We hope other MPS families will consider this fundraiser as well.
Who knows, maybe one day we could see a nationwide event with CPK—now that would really be a
“whole lot of dough”!
neighbor invited us to play in this year’s Links for
Lucas outing and seeing them (Lew and Stacey)
in action and what they are doing for their son
and others like him is unbelievable. We had
never heard of MPS until now. You can tell they
love their children. You can count on us every
year.”
In addition to the participation we were
fortunate to receive generous donations from
the JM Swank Company and several local
retailers who provided gift certificates, golf balls,
coupons, golf attire and giveaways. In addition
to meeting our immediate goals, awareness
and fun, we anticipate more donations will be
directed to the Society in the upcoming months
as word of mouth continues to spread. We ask
that other families who are considering taking
on an awareness event to just do it! Our kids will
reap the overall award.
Lew Montgomery
Jill and Lucas (MPS III) Valdez and Lew and Lucas (MPS III) Montgomery
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 #10943
continued
27
Fundraising News
• 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
In addition to being a career firefighter at Wright Patterson AFB, OH, Captain Harold “Sparky”
Sparks was a benevolent man who helped many children through his volunteerism and compassion.
He would do this annually for an organization that helped children with special needs. Every year
he would volunteer a week of his time at a camp for children and would take them fishing. This past
October 2008, my son Aiden Spaeth was diagnosed with MPS II. When my fellow firefighters received
word of Aiden’s new fight they went into action organizing and fundraising. In the forefront of this
effort was Sparky, as always, when someone was in need he was there to
help in any way he could. He was supportive from the start reaching out
to my family with his big heart and helping with our every need. Sparky
assisted in ensuring that more than 3,000 International Association of
Firefighters locals were notified of Aiden’s story by spending hours
addressing envelopes. Sparky passed away suddenly this past January
and will be truly missed by many. To our surprise, his wife and family
were so impressed with Sparky’s desire and effort to help in Aiden’s
fight they determined that in lieu of flowers, donations were to be
made to Aiden. Their generosity has overwhelmed us and many of
those who have touched our lives over the last seven months. Aiden is
blessed to be surrounded by kind and caring people. In celebration of
Aiden Spaeth (MPS II) and his mother Kristin
such a wonderful, compassionate man’s life we send this donation to
the National MPS Society.
The International Association of Firefighters has collectively raised awareness for Hunter syndrome
and MPS either by wearing a purple courage bracelet or by educating family and friends. The support
continued through a union-sponsored golf outing with more than 100 golfers and their families in
attendance. There are many people responsible for making this happen. The fire department is
most certainly a brotherhood and for us our family. In recognition of the IAFF Local F-88 and all of
Wright Patterson AFB Fire Department I request you accept this donation for the Society.
Jared and Kristin Spaeth
28
Fundraising News
On Your Mark, Get Set, GO!
The 2009 walk/run season is under way! Show support for MPS and related diseases and raise
awareness by attending an event near you. Contact Terri Klein ([email protected]) to find out
how you can be involved in a new program this year, Sponsor a Child for a Cure, in coordination with
a 2009 walk/run. See page 22 for more information.
Andrew’s Walk/Roll
for MPS
Krusade for
Khunsha & MPS
5K for Katie/
Do It for Danny
8/29/09
Clarksburg, OH
Sharon Cochenour
[email protected]
9/19/09
Allison Park, PA
Khunsha Numan
[email protected]
10/11/09
Downingtown, PA
Linda Shine
[email protected]
Laps for Lucas
MPS & Mito Walk/Run
8/30/09
Cedar Rapids, IA
Stacey Montgomery
[email protected]
9/19/09
Eagen, MN
Krysten Myking
[email protected]
MPS Run for
Their Lives 5K
River Run for Ryan
9/5/2009
Guttenberg, IA
Jonathon and Marie Hunt
[email protected]
Miles for MPS
9/12/09
Grand Rapids, MI
Laurel Radius
[email protected]
Sowden Family &
Friends Walk for a Cure
9/13/09
Auburn, MI
Josh and Sheri Sowden
[email protected]
Jack’s Run for MPS
9/19/09
Eden Prairie, MN
Dara Persson
[email protected]
The Heartland Run
for MPS
9/19/09
Ames, IA
Alyssa Hajek-Jones
[email protected]
Nathan’s North
Carolina Walk/Run
for MPS
9/26/09
Boone, NC
Terri Klein
[email protected]
BioMarin 5K Walk/Run
9/27/09
Novato, CA
Kathie Ward
[email protected]
10th Annual Run
for Erin
10/3/09
Woodstock, GA
Stacey Peters
[email protected]
Ryan’s Run
10/12/09
Fort Worth, TX
Scott Hardin
[email protected]
MPS Walk/Run L.A.
10/17/09
LaVerne, CA
Tami Slawson
[email protected]
Post Office Café’s
Annual Fun Run
for MPS
For more information
or to register for
an event, go to
www.mpssociety.org
10/17/09
Babylon, NY
Kerri Rose
[email protected]
Evan Reed Family
Fun Run
10/24/09
Mountain Grove, MO
Laura Hiler
[email protected]
10/10/09
Sellersville, PA
Maria Mask
[email protected]
Thank you to the following walk/
runs already held in 2009:
MacKenzie’s 5K
Walk/Run
Strides for Sara, Fair Haven,
NY, June 2009
Kassi’s Kause, Travis Air Force
Base, CA, May 2009
10/10/09
Poquoson, VA
Jennifer and Steve Clark
[email protected]
29
July 2009
Legislative Update #48
Legislative
Committee:
Ernie Dummann, chair
Steve Chesser
Debbie Dummann
Stephen Frye
Tom Gniazdowski
Steve Holland
Terri Klein
Austin Noll
MaryEllen Pendleton
Laurie Turner
Barbara Wedehase
Kim Whitecotton
30
We are formally kicking off our Policy with
Partners (PwP) program, and by now you should
have received correspondence from the Society
on this exciting new legislative movement. With
the 111th Congress abuzz with topics ranging
from special education, healthcare reform, etc.
this program exists to have Society members, their
friends and supporters standing by committed to
reaching out to our elected officials on programs,
legislation and policies that will impact all of our
families who live with MPS and related diseases.
Through open dialogue from you, and possible
collaboration with other non-profits, we will
connect, educate and motivate our legislators to
make a difference for our members. When we
call upon you, we will supply you with a template
for you to personalize with your family’s specific
information which can then be faxed, e-mailed
or phoned in to your representatives. Please fill
out your PwP form, and give us your ideas and
suggestions as well as any legislation you find
that can help our membership, or due harm to
our families. If you have not received your PwP
letter and form, please call our office or refer to
our Web site.
In May, Legislative Committee member Steve
Holland accompanied MPS members Mark
Dant, Eric and Vicki Merrell, Dawn Chercrallah
and Melissa Bryant to call on the House of
Representatives to gain additional support
for H.R.1441, The Ryan Dant Healthcare
Opportunity Act of 2009. At printing this
proposed legislation has 46 cosponsors and
is growing by the day. These members, along
with other MPS families, called in advance to
make 50+ appointments during their brief visit.
After returning from their trip Vicki and Eric
Society members join Mark Dant in Washington to support
H.R.1441
Merrill sent this note to the Society: “I think we
were received very well on Capitol Hill. Vicki
and I had seven meetings ourselves, and were
amazed by the way people responded to our
plight. When we showed pictures of Sean and
Cody, and discussed their struggles to date and
the challenges they face in future, you could
see that they understood the boys’ struggles.”
We thank all our MPS families and staff for
diligently writing, e-mailing and calling their
representatives whenever we need our voices
heard in our nation’s capitol!
Vice President Joe Biden Announces Kareen Dale as
Special Assistant to the President for Disability Policy
First time a president has had a special assistant focused exclusively on
disability policy
Vice President Joe Biden recently announced Kareem Dale as special assistant to the president for
Disability Policy. “The commitment that the president and I have to Special Olympics and people
with disabilities is deep and abiding. And we are backing up those words with real action at the White
House,” said Vice President Biden. “This is our first step to ensure we have a strong advocate for
people with disabilities at the highest levels of our administration.”
Dale, who is partially blind, will have direct access to the president in this role and he will coordinate
the administration’s efforts to see that people with disabilities are on a level playing field with all
Americans.
Originally from Chicago, Dale previously served as the National Disability Director for the Obama for
America campaign. He also served on the Arts Policy Committee and the Disability Policy Committee
for then-Senator Obama.
Legislative Update | July 2009
Department of Health and Human Services (HHS)
Makes $75 Million Available to States to Expand
Health Insurance Coverage
HHS announced the availability of $75 million to help states expand health insurance access to the
uninsured.
“With these funds, states can look at the most effective ways to provide affordable health insurance
to their uninsured residents,” said HHS Secretary Kathleen Sebelius. “Many states have had great
success in recent years instituting health reforms and these awards will make it possible for more
states to extend coverage to more people.”
Grants will be made in two categories. Target grants of $2 million to $4 million will be awarded
to states with plans to target specific groups of uninsured, such as children, small businesses or
uninsured seniors. Comprehensive grants of $7 million to $10 million will be awarded to states for
extensive insurance coverage initiatives.
The application deadline was June 15; all applications needed the support of their state’s governor.
The grants will be made over a five-year period and require a 20 percent match unless a state
demonstrates a financial hardship. In addition, states must demonstrate their ability to sustain the
program after federal funding has expired. The impact and results of state projects will be reported
to Congress at the end of the five-year grant period.
This new program will be overseen by the HHS Health Resources and Services Administration and
is an outgrowth of the agency’s State Planning Grant program that operated from 2000–2007. The
previous effort enabled many states to develop innovative plans that increased health insurance
coverage for their uninsured residents.
New National Institutes of Health (NIH) Program
Focuses on Developing Therapeutics for Rare and
Neglected Diseases
The NIH has launched a $24 million initiative called The Therapeutics for Rare and Neglected
Diseases Program (TRND, pronounced “trend”) that aims to develop new treatments for rare and
neglected diseases. TRND will focus on diseases that private companies have not been working
on and stimulate collaborations between academic scientists to advance the process of preclinical
research and product development. Relationships with patient advocacy organizations, diseasespecific foundations and pharmaceutical companies also will be emphasized to efficiently move
promising drugs to the clinical trial stage of development. The TRND program will be overseen by the
NIH Office of Rare Diseases and administered by the National Human Genome Research Institute
in collaboration with the NIH Chemical Genomics Center. Additional information is available at
www.genome.gov/27531962 or www.rarediseases.info.nih.gov/TRND.
31
Legislative Update | July 2009
American College of Medical Genetics (ACMG) Issues
New Position Statement Regarding Newborn Screening
The ACMG has released a new position statement emphasizing the importance of retaining the
dried blood spot filter cards obtained through newborn screening programs to ensure high-quality
newborn screening in the United States. This statement is supported by newborn screening,
consumer advocacy and public health officials from the Regional Genetics and Newborn Screening
Collaborative established as part of the Newborn Screening Saves Lives Act (PL 110-204). The
link to this new statement is www.acmg.net/StaticContent/NewsReleases/Blood_Spot_Position_
Statement2009.pdf.
President Obama Announces Intent to Nominate
Francis Collins as NIH Director
On July 8, 2009, President Barack Obama announced his intent to nominate Francis S. Collins as
director of the NIH at the Department of Health and Human Services.
“The National Institutes of Health stands as a model when it comes to science and research,” said
President Obama. “My administration is committed to promoting scientific integrity and pioneering
scientific research and I am confident that Dr. Francis Collins will lead the NIH to achieve these
goals. Dr. Collins is one of the top scientists in the world, and his groundbreaking work has changed
the very ways we consider our health and examine disease. I look forward to working with him in the
months and years ahead.”
Francis S. Collins, Nominee for Director, NIH, Health and Human Services
Francis S. Collins, MD, PhD, a physiciangeneticist noted for his landmark discoveries of
disease genes and his leadership of the Human
Genome Project, served as director of the
National Human Genome Research Institute
(NHGRI) at the NIH from 1993–2008. With Dr.
Collins at the helm, the Human Genome Project
consistently met projected milestones ahead of
schedule and under budget. This remarkable
international project culminated in April 2003
with the completion of a finished sequence of
the human DNA instruction book. In addition
to his achievements as the NHGRI director, Dr.
Collins’ own research laboratory has discovered
a number of important genes, including those
responsible for cystic fibrosis, neurofibromatosis,
Huntington’s disease, a familial endocrine
cancer syndrome and, most recently, genes for
adult onset (type 2) diabetes and the gene that
causes Hutchinson-Gilford progeria syndrome.
32
Dr. Collins has a longstanding interest in the
interface between science and faith, and has
written about this in The Language of God: A
Scientist Presents Evidence for Belief (Free Press,
2006). He has just completed a new book on
personalized medicine, The Language of Life:
DNA and the Revolution in Personalized Medicine
(HarperCollins, to be published in early 2010).
Collins received a bachelor of science degree in
chemistry from the University of Virginia, a PhD
in physical chemistry from Yale University, and
an MD with honors from the University of North
Carolina. Prior to coming to the NIH in 1993, he
spent nine years on the faculty of the University
of Michigan, where he was an investigator of the
Howard Hughes Medical Institute. He has been
elected to the Institute of Medicine and the
National Academy of Sciences, and was awarded
the Presidential Medal of Freedom in November
2007.
Legislative Update | July 2009
The 111th Congress: Legislation We Continue to Follow:
S.442 / H.R. 1085 The Health Insurance Coverage Protection Act
Introduced by Sens. Byron Dorgan (D-ND) and Olympia Snowe (R-ME), and Rep. Anna Eshoo
(D-CA), this bill increases the minimum lifetime caps in private insurance plans to $10 million with
an annual inflationary index. The legislation will allow people with bleeding disorders and other
high-cost chronic conditions who have private insurance to maintain their coverage and not have to
seek public assistance such as Medicaid or state high-risk pools.
H.R. 2866 Improving Access to Clinical Trials Act of 2009
This bill is aimed at aiding rare disease trials by allowing patients with rare diseases from losing
their Supplemental Security Income (SSI) status by participating in clinical trials for which they are
paid. Current laws prohibit SSI beneficiaries from accepting research compensation. The sponsor is
Rep. Markey (MA-7) and was introduced June 15, 2009, with several cosponsors. This legislation was
referred to the House Committee on Ways and Means.
S.726 & H.R. 1427 Promoting Innovation and Access to Life-Saving Medicine Act
Again, we continue to watch for progress on these bills which will create a regulatory pathway for the
U.S. Food and Drug Administration to approve generic biologics, or biotechnology products. See
page 44 for more information on biologics.
H.R. 2965/S.1233 Enhancing Small Business Research and Innovation Act of 2009
This bill amends the Small Business Act with respect to the Small Business Innovation Research and
Small Business Technology Transfer programs to extend funding and revise provisions, including
those concerning qualifications for program participation, research and development topics,
nanotechnology, project goals for funded projects, project commercialization, second and third
stage funding of projects, outreach to increase program participation, prioritization of applications,
and federal administration and oversight.
Lifespan Respite Care Act (P.L. 109-442)
Although some funding was received for FY2009, we appreciate the members’ support with their
calls to legislators to fully fund Lifespan Respite at $71 million in FY2010 Labor/HHS/Education
appropriations bill.
33
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!
Following is an excerpt from an article that appeared in the Daily Republic, Fairfield, CA, June 4, 2009. Written
by Susan Winlow. To read the complete article, go to http://search.dailyrepublic.com/display.php?id=1356.
After Diagnosis, Family Makes Most of Ill Daughter’s Life
Before 7-year-old Kassi Belle Offenbacker turned 5 she was given a death sentence.
Diagnosed with incurable Sanfilippo Syndrome Type A, a form of mucopolysaccharidoses, in July 2006,
Kassi won’t see much of her teenage years. MPS, and its related forms, is hereditary. The Offenbackers
live on Travis Air Force Base with their two children. The symptoms are varied such as degenerative
motor and verbal skills, and autistic behaviors. Seizures afflict many in the latter stages and while
symptoms differ in each child the common result is certain early death.
“We just went into shock,” Mike Offenbacker said of the diagnosis. “You don’t expect that.”
Unexpected because at 3 in 2004 Kassi had a full vocabulary, was potty trained and was mobile as any
preschooler. Then behavior changes piqued concern in her parents.
Following is an excerpt from an article that appeared in the Press Telegram, Long Beach, CA, May 28, 2009. Written
by Sean Belk. To read the complete article, go to www.presstelegram.com/search/ci_12473612?IADID=Searchwww.presstelegram.com-www.presstelegram.com.
Dinner to Help Fight Rare Diseases
Spencer Gates, 12, hopes for support in ‘storage disease’ fight
It was Easter when 12-year-old Spencer Gates came to his friends’ house to play his favorite game:
poker. An astute, neatly dressed student, Spencer definitely likes to win, whether it’s playing chess or
being the designated hitter for his Catholic parish elementary school. But he is modest for a child
his age. He deals with much tougher odds in his own life. Spencer suffers from a rare and painful
condition, a disease known as mucolipidosis type III, also called Pseudo-Hurler polydystrophy disease.
Finding the right treatment early on can be a hurdle, because a lot of patients don’t show physical
signs until school age, and some children are misdiagnosed. Since it’s a degenerative disease, most
patients face an uncertain, premature death.
Spencer was lucky enough to be diagnosed at the early age of 10 months. Aside from taking daily pain
medications and calcium for bone density, Spencer is in need of hip replacement surgery, but can’t go
through with it because his body hasn’t grown enough yet. He was also a part of Greenwood Genetic
Center’s Natural History Study for Mucolipidosis in 2006. His family might take him back to the South
Carolina Center in July for another round.
Steve Chesser, former senior manager of community relations for Boeing Co. in Long Beach area,
said parents with children of storage diseases have the common fears and struggles that go with having
their child’s life at risk. Chesser’s son, Bryce, has what’s called MPS type II, or Hunter’s syndrome,
carrying many of the same symptoms.
34
Making Headlines
Following is an excerpt from an article that appeared in the Wilmington News Journal, Wilmington, OH, May
7, 2009. Written by Dan Liggett. To read the complete article, go to www.wnewsj.com/main.asp?SectionID=49&
subsectionID=156&articleID=176485.
Clara’s Courage
“Courage” is the slogan of the National MPS Society, and the Gibson family of Wilmington has plenty
of it. Their 7-year-old daughter Clara has MPS, which is short for mucopolysaccharidoses, a disease for
which there is no cure. It is a recessive disease which, in all probability, will claim Clara at a young age.
“When we first got her diagnosed, we couldn’t even talk about it with breaking down and crying about
it,” Shane said. “Now, we try to keep her happy, and love her while we can.”
And Clara does seem happy. “Daddy,” “Mom” and “I love you” are most of the few words she can say.
Her primary means of communication appears to be physical. Incapable of expressing herself in ways
that others take for granted, Clara plays and shows affection for her parents by lunging into them. It
would be sad to the observer if not for the bond that is obvious between mother, father and child; if it
were not for Shane’s and Jenifer’s strength and patience as parents, and their courage to appreciate
the time they have with their daughter.
Sam Caswell, MPS I, recently was featured in The Bedford Bulletin, Bedford, NH, for his participation in
the Special Olympics state basketball tournament. Sam won a gold medal for dribbling 185 times in
one minute without losing contact with the ball.
Dec. 17–20, 2009
The National MPS Society will celebrate its 35th anniversary during the opening evening of the
Disney conference, Dec. 17. A wide range of topics and speakers are planned for Friday, Dec. 18,
ending with the awards banquet. The remainder of the weekend will be free for families to enjoy the parks,
including evening fireworks. Thanks for your ideas about how we can improve the conference.
Registration materials have been sent and are posted on the Web site. Contact Laurie Turner at
[email protected] with questions.
11th International Symposium on
Mucopolysaccharide and Related Diseases
June 23–27, 2010
Adelaide, South Australia
“Translating Research into Clinical Reality”
Hosted by Lysosomal Diseases Australia, Mucopolysaccharide & Related Diseases Society Aust. Ltd.
and Lysosomal Diseases New Zealand, this international conference will include exciting scientific
and family programs that will focus on the areas of newborn screening, prognostics, understanding
pathology and therapeutic options. Genuine opportunities for thorough discussion and debate, for
both academics and families, will be featured. For more information, visit www.mps2010.com.au.
Upcoming Events
Disney Family Conference
35
Remembering Our Children
Kristofer Arnold
Dan Rudny
27, MPS VI, 7/19/09
42, MPS II, 7/12/09
Bobby Bourgeois
Andrew Watkins
13, MPS III A, 6/10/09
10, MPS II, 7/18/09
Rishi Garg
Stephen Weaver
13, MPS II, 6/09
30, MPS II, 5/3/09
Diana Rodrigues
19, MPS III, 8/4/09
Chad Pyper, MPS II
12/10/88–12/30/08
Chad has been my teacher, the love of my life, and my inspiration for 20 years. Since the day he was
born I have counted his heartbeats and relished each and every moment I had with him. For the
past 13 years, Chad lived with me and what fun we had! Chad was the perfect son. Chad was born in
Phoenix 20 years ago. His first name means “warlike” in Scottish. His middle name “Barton” came
from his great, great, great grandmother Kathryn Barton, who left Enland in 1847 seeking religious
freedom, and who died as a Mormom pioneer after arriving in Utah.
On March 14, 1990, Sarah and I met with a doctor at Phoenix Children’s
Hospital who forever changed our lives. He informed us that Chad had
Hunter’s syndrome and wouldn’t live past the age of 12. After that time, Sarah
and I traveled to the University of Minnesota, University of Michigan, University
of North Carolina and the University of Washington, meeting with doctors
who could give us hope. Initially, a bone marrow transplant was thought to
be an option. Despite having insurance, we did not have a marrow match,
whereupon our neighbors in the Arcardia neighborhood and in Greeley, CO,
spearheaded fundraising events and donor drives, where more than $500,000
was raised and 5,000 donors were added to the Arizona donor registry, tripling
it in size. But no match for Chad. Sarah and I were about to proceed with a
marrow transplant involving a mismatch when, after lengthy prayer, the Spirit
prompted me to stop that pursuit. Six months later we learned that 35 Hunter
boys had received transplants, half survived, none were helped. Chad would
Chad Pyper with his father Mark
have been number 36. This spiritual counsel gave us 18 additional years with
Chad, a blessing I will always cherish. Because of Chad’s donors to the Arizona
marrow registry, more than 10 transplants have been made possible and almost as many lives have
been extended. Chad did not live in vain. His race is finished, but our time continues. Chad reminds
you that life is short, unpredictable. He illustrates that death is a reality to be faced by each of us, in
turn, in time. Chad’s life demonstrates that true happiness is found in serving others. My angel has
returned home.
Mark Pyper
36
Remembering Our Children
Brigham James Reneer, MPS II
11/18/94–5/15/09
Brigham was our first child. It was evident from his very first breaths that he was a choice and mighty
spirit. He was large and strong and a pure delight to us and his extended family. Brigham loved life.
He loved to sing, run, play, eat all kinds of foods, ride his ponies (Joe Willow and Perky), Disneyland,
birthday parties, his tarzan treehouse, swimming, car rides, stories, the beach, movies, his trike,
fishing, his dogs Mighty Jo and Olive, camping, and so much more. Most of all Brigham loved being
with his family. Brigham had a great affection for his many cousins, aunts, uncles and grandparents
who all adored him.
A week after Brigham turned 3 years old he was diagnosed with acute lymphocytic leukemia. Three
days later, our son also was diagnosed with MPS. We learned this would be terminal and degenerative.
His life expectancy would be between the ages of 10 and 12 years of age. We always knew in our
hearts that Brigham would live to the age of 14. He endured with courage and without complaint,
painful treatments for his leukemia and after five years, he achieved remission. For Brigham, MPS
was the bigger beast to fight. He fought to not let this devastating syndrome slow him. Every day was
an adventure for Brigham. He always found the joy amidst his pain and suffering.
Brigham was a member of the Church of Jesus Christ of Latter-day Saints. He enjoyed attending
church and singing the hymns. In the early years, Brigham’s voice could be heard above all others.
He loved the missionaries and expressed to us his desire to go on a mission. We already knew he was
serving his mission. However, when Brigham was 6 years old, he was called to be a youth missionary.
He loved visiting different primary meetings all over Utah. He gratefully wore his black suit and
tie, black shoes, white shirt and his missionary badge as he shared his testimony of his Savior Jesus
Christ. We know he knew Him in a very real way. The disease continued to ravage his little body and
it became more and more difficult for him to do the things in life he enjoyed so much, as well as all
the simple things like walking, talking, eating and breathing.
Brigham never complained. He was an example of courage, bravery, and of enduring well in the
face of continuing pain. Brigham “fought the good fight, he finished his course, and he kept the
faith.” He lived like no other individual we have known, valiantly fighting, even in his passing. He left
this world, encircled in our arms and surrounded by his loving family. He was indeed a pure vessel,
without guile and incapable of sin. He “walked the earth with clean hands and a pure heart, an angel
out of his element.” We look forward and long for the time when we will all be reunited again.
Thank you Brigham, Thank you, Thank you. We love you.
Mom and Dad (Julie and Randy Reneer)
Bereavement programs honor those lost to MPS and related diseases
The National MPS Society’s Family Support Committee developed the White Rose Program for families whose
child with MPS or related disease passes away. The Society sends white roses to the family for the memorial service
or to the family home. We also reach out to the family, offering to connect them with other parents who have
walked this road and mail a series of booklets designed to help with the grieving process. The Society sends white
roses again at the one-year anniversary.
Former board member and Legislative Committee Chair Sissi Langford expressed her desire to have a flag flown
over the U.S. Capitol building for each person who loses his or her battle with MPS. When the Society is notified
of the passing of one of our members with MPS, the office contacts the family to offer having a U.S. flag flown over
the Capitol building. Plans are then made with the member’s congressman or senator to have the flag flown in
memory of their loved one.
This program has been in place since January of 2009. After the flag is flown over the Capitol, the flag is folded
and is mailed to the family along with a certificate to commemorate the special day. Several congressmen have
personally contacted families expressing their sympathies and, in the process, learn about MPS. The response
from this new program has been very heartwarming. The Society is pleased to offer such a wonderful memorial
tribute for our members. If you wish to learn more about this program, contact Laurie Turner, program director,
at [email protected].
37
Standing Ovation
Let’s Give a Standing Ovation to…
The Standing Ovation Award honors 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:
Jennifer Prince, 22, MPS I
My name is Jennifer Prince, I am from Lawrenceville, GA, and I
have been blessed with having MPS I. I am your typical college
student: I stay up late at night to do an assignment that is due
the next morning, I am constantly on my computer or my nose
is in my school book trying to understand what my professor was
teaching me during class. As of now, I go to Georgia Gwinnett
College in Lawrenceville; however, I am trying to get into Georgia
State University to continue on with my major, marketing. I want
to be able to work for Genzyme.
I have an amazing boyfriend, Johnathan Craps, he goes to my
favorite school of all time, Georgia Tech. I am a HUGE fan of
sports, and the Georgia Tech Yellow Jackets are at the top of my list. Johnathan likes to joke with
me because at every game I go to I dress up. I wear the jersey, paint my face, and cheer loudly. I
support my hometown teams (except the University of Georgia), wearing a puck-hat for the Atlanta
Thrashers, doing the “Dirty Bird” dance at the Atlanta Falcons game, the tomahawk at the Braves,
and the Hawks.
Not only do I love sports. I also enjoy going to concerts with my friends. I love being with my friends
listening to great music. But, I can also be found in my room reading a good romantic book or a
historical non-fiction book. I enjoy so many different things and meeting new people. I am just a
normal girl which is why when I found out I got this award I was surprised. I know people with MPS
who have it worse than I do, but I feel special to receive such a great award. Thank you.
I love to travel. For my graduation gift, my parents flew me to Zurich to visit my cousin and her
husband for 11 days. They took me throughout Switzerland and parts of Germany, as well as parts of
Austria. I got to see where Albert Einstein lived and the Cinderella’s Castle, which is actually called
Neuschwanstein Castle, in Bavaria.
Lastly, and probably the most important thing, my sister and I were approved to be in the clinical
trial to get Adurazyme®; however, the trial was a double-blind placebo, so neither the doctor nor my
family knew who got the drug. After my sister began to improve, by the flattening of her stomach, she
also was getting somewhat less stiff, and she gained more energy. Everyone figured out that my sister,
Savannah, had gotten the true drug, yet I did not. Luckily, the FDA approved the medicine and now
not just me, but a lot of other people can get this life-saving drug.
38
Standing Ovation
David Radius, 15, MPS II
David enjoys riding in his golf cart, which his dad made to look
like a Hummer. He also enjoys watching movies about dogs and
soaking in his hot tub. David likes spending time with his sister,
Amy, and brother, Chip, who also has MPS II. Oreo cookies make
David happy. At Christmas one year, David’s uncle got Oreos for
a present, and David would not give up until he got the entire
package for himself. David’s proudest accomplishment was when
he learned to ride his bike when he was younger, and is still able
to ride today with some help. He loves to golf with daddy and
grandpa. David used to walk the entire Miles for MPS with his
family; today he still completes at least one lap before being
pushed in his chair the rest of the race.
Joshua Downing, 30, MPS III
Joshua James Downing was born March 22, 1979, in Wheeling,
WV. He was 7 years old when he was diagnosed with MPS III. His
life expectancy was the second decade of life; Joshua turned 30
this March.
Joshua’s favorite things to do when he was young were
swimming, bouncing balls, boxing and taking long walks in the
neighborhood. He also loved horses. We bought little horses in
many colors and he carried them wherever we went.
Now that Joshua is older it has been difficult to take him out. He
has been bedridden since he was around 20, due to having a tracheotomy and CPAP. Josh now enjoys
TV, music, his various light shows and his star lights on his ceiling. Overall Joshua is healthy.
Joshua has touched many lives. He was always happy and smiling. His smile touched everyone’s heart.
Everyone who met him went away with a new way of thinking about a handicapped child. Joshua
has made us a stronger family. He made us who we are today. Joshua has been a joy. Thank you for
honoring him with this Standing Ovation Award.
Rachel Cumpain, 16, MPS IV
Rachel enjoys reading tons of books. When reading, she feels she
can just escape her world and go somewhere else. She also enjoys
hanging out with her friends, even though they are normal-sized.
She is the shortest in her entire school, which has its perks since
she doesn’t have to do physical education and has been blessed to
use an electric wheelchair to transport herself across the campus.
She’s never let her syndrome prevent her from having fun. She
enjoys doing choir and drama with her classmates. Rachel loves
to be on stage, and gets many kudos when she is in school plays.
She even participates in chapel choir at her school, along with
the regular choir. Rachel is great on the computer as well, and
can type at an amazing speed.
39
Standing Ovation
William Peterson, 63, MPS VI
I was born in Muncie, IN, in 1946. My life was pretty normal
until my parents noticed, at age 11, that I didn’t have the same
physical abilities as other kids my age. At that time I began seeing
specialists, and since that was the mid 50s no one knew what
my condition truly was. I attended college and later married.
My wife, Cheryl, and I have three adult daughters who are all
normally healthy and have blessed us with five grandsons and
three granddaughters ranging in age from 3 to 21. We have lived
in Fishers, IN, since 2000.
I have spent my entire working career as a senior manager in the
trucking industry, most of the time at the vice president level.
Currently I am doing consulting work and contemplating retirement but just can’t quite give up
working even though physically I should.
I have been blessed to have wonderful doctors, especially at Riley Hospital in Indianapolis, IN, and
a great MD, Jeffrey Walker, who took the time to learn about MPS VI and coordinate with the good
people at Riley to guide my health situation.
It seems that my life journey with MPS VI is mild compared to others. I had both hips replaced in
1982 at which time I could return to my passion, playing golf (which I can no longer do). I also had
two heart valves replaced in 1994. My overall physical condition has deteriorated over the past five
years, but in general I have no major complaints.
I had the priviledge of going to Oakland Children’s Hospital to participate in the early stages of
the BioMarin enzyme development which was very interesting. I felt that whatever I could do to
help young people with MPS VI was very important. I have not had the therapy as I can’t afford the
tremendous cost and am uncertain as to the benefit.
All things considered, I have had a pretty good life to this point. I look forward to seeing our
grandchildren become adults. Last but certainly not least, I owe a tremendous amount to my wife
and partner, Cheryl, without whom I could not function each day. I look forward to continued
medical progress and sincerely hope that one day this genetic problem doesn’t exist.
Nathan Marquez, 8, MPS VII
Nathan enjoys reading books, especially those about cartoon
characters and dinosaurs. He enjoys singing songs; his favorite
song is Barney’s “Mr. Sun.” Nathan is happiest when he watches
Sponge Bob and other cartoons. He is a homebody and enjoys
spending time with his pet dogs Burger, Pulga and Ringo. Nathan
is happy, always smiling, and enjoys life to the fullest. He currently
is recovering from hip surgery, and he is still smiling. Nathan is
able to read his own name, is learning his letters, counting from
1–10, and is able to sit down and focus on tasks at school.
40
Standing Ovation
Jenny Klein, 17, ML III
My name is Jenny Klein and I am a senior at Dexter High School.
At the age of 8 I was diagnosed with ML III. Before I was diagnosed
I participated in all kinds of sports. I played soccer, softball and
basketball. I also was a gymnast, ice skater and competitive
dancer. As I got older my mobility became limited, but that did
not stop me. I still enjoyed the everyday activities that children
my age did as well as danced competitively.
Currently I enjoy music. I play the clarinet and am in the
marching band. I enjoy dancing, jet skiing, going to the beach,
acting/performing and hanging out with friends. I am a senior
Girl Scout so I love spending time with them and helping out our
community as well as just having fun.
I take every day as it comes. I definitely had my share of ups and downs but that does not stop me
from accomplishing what I want. I have learned that I can do whatever I set my mind to. Sometimes
the doctors might not always agree but there is always a risk in accomplishing your goals. Having ML
has taught me that things in life are not easy. Most of the time I have to work twice as hard as anyone
else but that only makes me stronger. Whenever I fail my family and friends are always there to help
me pick up the pieces. They are the ones who get me through the day, and without them I do not
know where I would be.
My proudest accomplishment is going to the university of my choice. I have worked hard throughout
my high school career and it is nice to finally see it pay off. I also am proud to say that I helped build
a labyrinth in the Huron Metro park with my Girl Scout troop. Three days on our hands and knees
digging in the dirt during thunderstorms but it was all worth it, seeing that it has been a great tribute
to our community.
A Warm Welcome introduces new Society members/families and also 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 Christopher
Dutcher (MPS II).
I was diagnosed when I was 6 years old; my
younger brother Cody and I both have MPS II.
I graduated from Brentwood High School on
Long Island where I grew up. I started the FDA
study for ElapraseTM in 2000. I was the first person
in the study but I later found out I was receiving
the placebo. I wasn’t actually put on the drug
until six months later. I received the drug at
UNC Albany Medical Center and most recently
at the oct/hemo office of western Suffolk county.
I am now receiving infusions at Florida Cancer
specialists in Clearwater.
University, and I graduated this past May with
a dual MBA in marketing and management. At
present I am living in the Tampa area and have
been looking for a job. I would like to get a
position doing account management or business
development. I enjoy spending time with friends
and family. I’m also a big reader, Kurt Vonnegut
is my favorite author.
I graduated from the University at Albany-SUNY
in 2005 with a degree in communications.
I began graduate school in 2006 at Hofstra
Christopher Dutcher (MPS II)
A Warm Welcome
A Warm Welcome
41
Research News: Hope for the Future
What Is Biomedical Research?
Biomedical research is the broad area of science that looks for ways to prevent and treat diseases that
cause illness and death in people and in animals. This general field of research includes many areas
of both the life and physical sciences.
Utilizing biotechnology techniques, biomedical researchers study biological processes and diseases
with the ultimate goal of developing effective treatments and cures. Biomedical research is an
evolutionary process requiring careful experimentation by many scientists, including biologists and
chemists. Discovery of new medicines and therapies requires careful scientific experimentation,
development and evaluation.
Why are animals used in biomedical research?
The use of animals in some types of research is essential to the development of new and more effective
methods for diagnosing and treating diseases that affect both humans and animals. Scientists use
animals to learn more about health problems, and to assure the safety of new medical treatments.
Medical researchers need to understand health problems before they can develop ways to treat them.
Some diseases and health problems involve processes that can only be studied in living organisms.
Animals are necessary to medical research because it is impractical or unethical to use humans.
Animals make good research subjects for a variety of reasons. Animals are biologically similar to
humans. They are susceptible to many of the same health problems, and they have short life cycles so
they can easily be studied throughout their whole life-span or across several generations. In addition,
scientists can easily control the environment around animals (diet, temperature, lighting), which
would be difficult to do with people. Finally, a primary reason why animals are used is that most
people feel it would be wrong to deliberately expose human beings to health risks in order to observe
the course of a disease.
Animals are used in research to develop drugs and medical procedures to treat diseases. Scientists may
discover such drugs and procedures using alternative research methods that do not involve animals.
If the new therapy seems promising, it is tested in animals to see whether it seems to be safe and
effective. If the results of the animal studies are good, then human volunteers are asked to participate
in a clinical trial. The animal studies are conducted first to give medical researchers a better idea of
what benefits and complications they are likely to see in humans.
A variety of animals provide very useful models for the study of diseases afflicting both animals and
humans. However, approximately 95 percent of research animals in the United States are rats, mice,
and other rodents bred specifically for laboratory research. Dogs, cats and primates account for less
than one percent of all the animals used in research.
Those working in the field of biomedical research have a duty to conduct research in a manner that
is humane, appropriate and judicious. Scientists continue to look for ways to reduce the numbers
of animals needed to obtain valid results, refine experimental techniques and replace animals with
other research methods whenever feasible.
MPS III patients needed for research study
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].
42
Research News: Hope for the Future
2009 Research Grants
The National MPS Society awarded $432,000 in new grants for 2009. The funding the Society provides
has been and continues to be crucial as we move forward with our mission to find the cures.
We received 33 letters of intent from researchers around the world for the five grants offered in 2009.
After reviewing those letters, our Scientific Advisory Board review committee requested full grant
proposals from 12 researchers.
All grant recipients were awarded $80,000 for the two-year grant, with half of the total provided each
year. Dr. Cosma received the MPS II grant, Drs. Esko and Fraldi received the MPS III grants, and
Drs. Ponder and Simonaro received the general MPS research grants.
An additional $7,000 for mucolipidosis research will be provided as a partnership grant to the
International Society of Mannosidosis and Related Diseases. In support of the Lysosomal Disease
Network’s National Institutes of Health grant research goals, the Society will fund $25,000 in support
of the Neuroimaging Core which will benefit the four MPS projects.
Dr. Maria Pia Cosma
Dr. Jeffrey Esko
TIGEM, Naples, Italy
“AAV2/5CMV-IDS therapy in MPS II mice:
correction of CNS defects through IDS
delivery across the blood-brain barrier”
University of California, San Diego, CA
Children affected by MPS II lack the activity of
the enzyme iduronate 2-sulfatase (IDS). They
accumulate compounds in their body that
gradually kill their cells and damage all of their
visceral organs. A gene therapy approach was
initiated to treat this central nervous system
(CNS) disease in a mouse model of MPS II.
Affected pups were injected with viral particles
that targeted all of the visceral tissues. High
levels of active IDS were produced, secreted into
the plasma and also taken up by the brain. This
approach gave important results, as the mice
were cured of their visceral organ defects, and
surprisingly, they also showed amelioration of
the CNS phenotype. We now plan to extend this
approach to adult and juvenile MPS II mice and
to more specifically study how the IDS enzyme
reaches the brain, in terms of its crossing of the
blood-brain barrier, which was thought not to be
permeable to high molecular weight proteins,
such as the IDS. We plan to carry out these
studies with a variety of different approaches. If
successful, our studies should allow us to set up
more efficient treatments for the cure of the CNS
phenotype of patients with Hunter syndrome.
“Substrate reduction strategy for MPS III A”
MPS are inherited metabolic disorders in which
cellular polysaccharides (glycosaminoglycans)
can no longer be degraded, causing aberrant
storage of partially degraded material in
lysosomes. Children born with these diseases
exhibit developmental abnormalities, organ
failure and mental retardation, defects that often
result in death within the first few decades of
life. A subset of MPS diseases result from enzyme
deficiencies required by cells to degrade a class
of glycosaminoglycans known as heparan sulfate.
This research proposal will test if altering heparan
sulfate biosynthesis is an effective method of
preventing its accumulation in one of these
diseases, specifically MPS III A. The approach
consists of genetically disrupting heparan sulfate
biosynthesis in MPS III A patient cell lines and
mouse models. Its efficacy will be assayed by
reduction of lysosomal storage and restoration of
normal cellular turnover of glycosaminoglycans.
Positive results would justify and encourage
the development of small molecule inhibitors
of heparan sulfate biosynthesis as a way to
accomplish substrate reduction therapy in
patients. The major advantage of substrate
reduction is that these agents might access
the brain where glycosaminoglycan storage is
highly detrimental and existing therapies appear
ineffective.
continued
43
Research News: Hope for the Future
Dr. Alessandro Fraldi
TIGEM, Naples, Italy
“Developing a systemic AAV-mediated gene
therapy to cross the blood-brain barrier and
treat the brain pathology in MPS III A”
MPS III A is an inherited disease caused by the
deficiency of sulfamidase (SGSH), a gene that
encode an enzyme needed for the degradation
of a large macromolecule called heparan sulfate.
As consequence, such substrate accumulates
in the cells and tissues of the affected patients
causing cell damage. The central nervous system
is the predominant target of damage and in fact,
the MPS III A patients experience severe mental
retardation and neuropathological decline that
ultimately leads to death. Gene therapy is a
therapeutic option for several inherited diseases.
The aim of gene therapy is to substitute the
defective gene with a functional one. Often a
modified not-pathogenic virus is used as vehicle
to transport the gene in the affected tissues. In
this study we will test the efficacy of a therapeutic
approach based on the delivery, via intravenous
injection, of an adeno-associated virus (AAV)
bearing a functional SGSH. The AAV have a
tropism for the liver, so that upon injection the
virus will reach the liver that consequently will
produce the functional SGSH. The functional
SGSH will be then secreted from the liver and will
enter into the brain throughout the blood torrent.
Importantly, the SGSH will be opportunely
modified to be secreted more efficiently from
the liver and to make it able to efficiently pass the
blood-brain barrier and transduce the brain.
Dr. Katherine Ponder
Washington University, St. Louis, MO
“The role of cathepsin K in cardiac valve disease
in MPS”
44
MPS is due to a genetic deficiency in the activity
of an enzyme that degrades glycosaminoglycans.
One of the serious manifestations of MPS is the
development of heart disease, which can result
in reduced delivery of oxygenated blood to the
body and require surgery to replace the valve.
This can involve thickened heart valves that block
the flow of blood into the heart. Heart valves also
can be leaky, which allows blood to flow in the
wrong direction. The goal of this project is to
understand what causes heart valves problems,
and to identify a therapy to prevent these heart
valve abnormalities from developing. Collagen is
the major protein that provides strength to the
heart valves. We have found that the amount
of collagen is markedly reduced in heart valves
of MPS I and MPS VII dogs, and propose that
this is what weakens the valve. We hypothesize
that reduced amounts of collagen are due to
abnormally high levels of an enzyme that can
degrade collagen, cathepsin K. If that is the case,
it might be possible to prevent heart valve disease
with inhibitors of cathepsin K that are currently
being used to treat osteoporosis. This project may
identify a drug to prevent the development of
heart valve disease in MPS.
Dr. Calogera Simonaro
Mount Sinai School of Medicine, New York, NY
“Novel anti-inflammatory therapies for the
mucopolysaccharidoses”
Enzyme replacement therapy (ERT) currently
is available for three MPS diseases, although the
effects of this therapy on bone and cartilage are
very limited. Thus, new treatment approaches
are clearly needed, alone or as adjuncts to
ERT. Our research will use animal models to
explore such new therapies. In particular, we will
comprehensively evaluate the bones and joints of
MPS VI animals treated with the FDA-approved
anti-inflammatory drug, Remicade. This drug
targets the inflammatory pathway we have found
to be activated in MPS patients (TLR4). Our
results to date have shown that Remicade can
substantially reverse or prevent inflammation in
MPS VI rats, and we now plan to comprehensively
evaluate the bones and joints in animals treated
with Remicade alone or in conjunction with ERT
(NaglazymeTM). Since Remicade currently is
FDA-approved for the treatment of arthritis and
other inflammatory diseases, we are hopeful that
completion of these animal studies will lead to
clinical trials and approval for MPS patients. We
also will complete the analysis of an important
“proof of principle” experiment in which the
TLR4 inflammatory pathway is inactivated in
MPS VII mice. These results will provide the
basis for the continued development of antiinflammatory treatment strategies for MPS VI
and other MPS disorders, and identify new
molecular targets for drug therapy.
In 2008 the National MPS Society awarded two MPS II grants, one MPS II grant and five general MPS
research grants. Summaries from the first year of their work can be found on our Web site under
Research Grants 2008.
Dr. Nicola Brunetti-Pierri
Baylor College of Medicine, Houston, TX
“HDAd gene therapy for lysosomal storage
disorders”
Dr. Brett E. Crawford
Zacharon Pharmaceuticals Inc., La Jolla, CA
“Glycosaminoglycan inhibitors as substrate
reduction therapies for MPS II”
Dr. Andrea Ballabio
TIGEM, Naples, Italy
“Modulation of autophagy as a potential
therapeutic approach for MPS”
Dr. Brian Bigger
Royal Manchester Children’s Hospital,
Manchester, UK
“The effect of heparan sulphate on stem cell
homing and engraftment in MPS I”
Dr. Adriana M. Montano
Saint Louis University School of Medicine,
St. Louis, MO
“Identification of genes for keratin sulfate
biosynthesis: toward development of RNAi
mediated therapy”
Dr. Mark S. Sands
Washington University School of Medicine,
St. Louis, MO
“Metabolic adaptions and phenotypic
consequences of blocking lysosomal recycling”
Dr. Marta Serafini
Dulbecco Telethon Institute at M.Tettamanti
Research Center Clinica Pediatrica Univ.,
Monza, Italy
“Marrow mesenchymal stem cell therapy for
MPS I”
Research News: Hope for the Future
2008 First-year Reviews
Dr. Richard Steet
University of Georgia Research Foundation,
Athens, GA
“Investigation of the cartilage pathogenesis of
ML II and MPS”
2007 Second-year Reviews
Summaries from the second year of work from grants funded in 2007 can be found on our Web site
under Research Grants 2007.
Dr. Calogera M. Simonaro
Mt. Sinai School of Medicine, New York, NY
“Pathogenesis and treatment of the
mucopolysaccharidoses
Dr. Alessandra Biffi
San Raffaele Telethon Institute for Gene
Therapy (HSR-TIGET), Milano, Italy
“Novel efficacious and safe gene therapy
approaches for the treatment of MPS I”
Dr. Mark Haskins
School of Veterinary Medicine,
University of Pennsylvania,
Philadelphia, PA
“Lentiviral Vector Therapy for MPS VII”
Dr Maria Fuller
Children, Youth and Women’s Health Service,
North Adelaide SA, Australia
“Membrane microdomains and
improved clinical management for the
mucopolysaccharidoses”
45
Research News: Clinical Trials
University of Minnesota Children’s Hospital Offers
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
516 Delaware St. SE
PWB 13-124, MMC 8404
Minneapolis, MN 55455
612.624.4459
[email protected]
Clinical Trials
MPS I
Intrathecal ERT for Spinal Cord
Compression
One Year Extension Study Approved
Enzyme replacement therapy (ERT) has been
developed for MPS I. ERT helps many physical
ailments due to the disease, but does not treat the
central nervous system due to inability to cross
the blood brain barrier. The purpose of this study
is to test delivery of ERT to the spinal fluid via
intrathecal injection in patients with MPS I. In this
pilot study, recombinant human a-L-iduronidase
will be administered intrathecally once per
month for four months to individuals age 8 and
older with the Hurler-Scheie and Scheie forms
of MPS I and spinal cord compression. For
questions regarding age, please contact Principal
Investigator Dr. Patricia Dickson at 310.222.4145
or [email protected].
Secondary Outcomes: Improvement in spinal
fluid pressure, by opening pressure measurements
at each intrathecal treatment; improvement in
hydrocephalus and other brain lesions by MRI at
baseline and four months.
If successful, intrathecal delivery could represent
a practical, straightforward method of treating
central nervous system disease due to lysosomal
storage.
The University of Minnesota recently has
obtained U.S. Food and Drug Administration
(FDA) approval for the delivery of laronidase
into the spinal fluid of children with Hurler
syndrome being considered for marrow/cord
blood transplantation. The goal of these studies
is to decrease the neuropsychologic decline that
has been observed in children with Hurler from
the time the patients are initially evaluated to the
time they are one year from transplantation. The
hypothesis is that there is a significant delay in
achieving sufficient enzyme levels in the brain
following transplantation, and that this may be
overcome by giving enzyme into the spinal fluid
Primary Outcomes: Safety of intrathecal enzyme
treatment by blood and spinal fluid tests each
month; improvement in neurologic signs related
to spinal cord compression, by neurologic
examination
and
Japanese
Orthopedic
Association Scale each month; improvement
in neurologic symptoms related to spinal cord
compression, by subjective assessments and
independence of functioning scale each month;
46
improvement in mobility, by six-minute walk
test each month; improvement in spinal cord
compression by MRI imaging and somatosensory
evoked potentials at baseline and four months;
improvement in lysosomal storage by spinal fluid
glycosaminoglycan levels at each treatment.
Expected total enrollment: 10
Additional information can be obtained at
www.clinicaltrials.gov/ct/show/NCT00215527
?order=1 or by contacting the principal
investigator, Dr. Patricia Dickson, at 310.222.4145
or [email protected].
MPS I Intrathecal ERT for Children
Being Considered for Transplantation
continued
MPS II
MPS II Intrathecal Enzyme
Replacement Clinical Trial
Shire Human Genetic Therapies is sponsoring a
clinical trial at the University of North Carolina
at Chapel Hill to learn if direct administration
of recombinant enzyme into the fluid around
the brain and spinal cord is safe and a possible
treatment for children with MPS II with
developmental delays. “A phase I/II safety and
ascending dose ranging study of idursulfase
administration via an intrathecal drug delivery
device in pediatric patients with MPS II who
demonstrate evidence of central nervous system
involvement and who are receiving treatment
with Elapraise,” 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.
Research News: Clinical Trials
until this occurs. Patients with Hurler syndrome
who are between 8 and 36 months of age who
have not previously received enzyme therapy
and are being considered for transplantation
at the University of Minnesota are eligible.
Patients receiving laronidase in the spinal fluid
also will be on intravenous laronidase prior to
transplant. The study will involve four doses
of laronidase given during a lumbar puncture
(spinal tap) approximately three months before
transplantation, at the time of admission to the
hospital for the transplant, three months after
the transplant and six months after the date of
the transplant. The principal investigator of the
study is Dr. Paul Orchard, who can be reached at
612.626.2961, or by e-mail at [email protected].
Alternatively, Teresa Kivisto, nurse coordinator,
can be reached at 612.273.2924 or by e-mail at
[email protected].
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 ElapraiseTM 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.
MPS IV
The board of directors of Vivendy Therapeutics
announced in late 2008 that they will stop the
natural history program as well as further medical
activities in the scope of the development project
for enzyme replacement therapy treatment of
MPS IV A.
BioMarin Pharmaceutical Inc. announced on
April 21, 2009, the initiation of a phase I/II clinical
trial for BMN-110 or N-acetylgalactosamine
6-sulfatase (GALNS), intended for the treatment
of MPS IV A, or Morquio A syndrome. The
company expects to report initial results in the
first half of 2010.
continued
47
Research News: Treatment Therapies
“We plan to leverage our clinical, manufacturing
and regulatory expertise to bring a new
therapeutic option to the significant number of
untreated Morquio patients around the world,”
said Henry Fuchs, MD, chief medical officer of
BioMarin. “GALNS has been shown in mice to
reach important tissues including cartilage and
different zones of the bone such as bone marrow,
calcified bone and importantly, the growth plate.
Our experiments have also shown that GALNS is
taken up into human Morquio chondrocytes in
vitro and reaches the lysosome to clear keratan
sulfate.”
Chris Hendriksz, MD, consultant in Metabolic
Disorders, Birmingham Children’s Hospital,
added, “This is a very exciting announcement for
our patients who have been waiting so long for a
potential therapy. Hope of a therapeutic is now
within reach for these patients, and Birmingham
Children’s Hospital is very honored to be part of
this exciting development.”
The phase I/II study is designed as an openlabel, within-patient dose escalation trial in
approximately 20 patients followed by a treatment
continuation phase. All patients to be enrolled in
the study have already been identified. During
the dose escalation phase of the study, subjects
will receive weekly intravenous infusions of
BMN-110 in three consecutive 12-week dosing
intervals. The objectives of the phase I/II study
will be to evaluate safety, pharmacokinetics,
pharmacodynamics and to identify the optimal
dose of GALNS for future studies.
BioMarin also 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.
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
48
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].
While the Society is here to support our families, our members also contribute
much of their time, energy and talents. Everyone has something to contribute!
In this issue, we interview Eric and Vicki Merrell. If you know of someone you
would like to have featured in a future issue contact us at [email protected].
Who is your child/children with MPS,
tell us something about them.
We have two boys who were diagnosed with
MPS I: Sean, 17, and Cody, 15. We also have
a daughter, Amber, 12. Amber is a carrier,
but is not affected. Sean will be a junior in
high school this coming year and loves music
(anything country), concerts, cars, and has been
a manager for several sports teams including
cross-country, basketball and baseball. Cody will
be a sophomore and spends most of his hours
drawing detailed pictures of dragons. He hopes
to become a cartoonist/graphic artist. He also
loves Spyro the Dragon video games…he has
conquered every game system out there!
the support of this organization and their family
that it inspired us to try an event ourselves. We
held our first walk/run in 2003, then followed
with others in 2004 and 2005. They were very
successful and extremely personally rewarding.
Our children were able to participate and invite
their friends, which gave them such a boost
after struggling so much from the reality of the
disease. Every year we gained more support
and more funds. It was very rewarding knowing
this was all going to directly support the Society
and many other families that we were getting to
know so very well. Then, for a change of pace,
we decided to sponsor our first “Trivia Night” in
honor of Sean and Cody at our local church. It
Volunteer Spotlight
Volunteers have been very instrumental in making the Society what it is today.
When did you learn of their diagnosis?
When Sean was 8 and Cody was 6 in July of
2000. We noticed many effects of MPS as early
as the age of 2 in Sean, but didn’t recognize
the symptoms or get diagnosed until they were
older. Both boys had shown signs with multiple
ear infections and surgeries, limited range of
motion, hand curvatures, heart valve problems,
vision and hearing loss. Our constant questions
and anguish over the years to our pediatrician
is what finally led him to send us to the genetic
specialist at St. Louis Children’s Hospital.
What volunteer activities have you
done for the Society? How long
after you joined did you begin
volunteering?
Becoming members in 2000, we began searching
for answers, grasping for an understanding of this
disease. We soon found out we lived very close
to another family with an MPS diagnosis, Brian
and Kris Klenke, and their children Kraig and
Chelsey. Kris is our current vice president. They
invited us to a walk/run they were sponsoring in
early 2001. We were so touched by the passion
and love that was shown by their community for
Amber, Sean and Cody Merrell
beat out all three years of the walk/run and our
community loved this event! It was very successful,
and everyone got to relax, enjoy and learn more
about MPS in between rounds. Sean was able to
give his first ever public speech, which ended
with a very moving standing ovation--memories
that he will never forget.
What do you gain from your
volunteer efforts?
It gives our family a way to keep our minds
from the negative, and focus on the fact
that advocating and giving back are not only
satisfying, but necessary. When you keep yourself
busy with helping others, you find that you get
continued
49
Volunteer Spotlight
back three times more! It has been inspiring to
watch a community come together for a cause
that is so close to our hearts, and the volunteers
come from some of the most unexpected and
refreshing places. Teenagers (they really are
a lot of fun!), retirees (who love to donate
homemade goodies), small-town businesses that
may not have much, but they give. It is absolutely
wonderful!
other families just by being there and helping
out. Whatever your strong suit is, use it! It is one
of the most rewarding experiences in our lives.
It is hard work when you organize, ask for help,
ask for commitments and put it all together, but
at the end of the day of your event when you
look around and see the benefits and the smiles
on the faces of those you are doing it all for it is
immeasurable.
What would you like others to know
about volunteering for the Society?
Tell us about yourself and your family.
Fundraisers may not be for everyone. We have
seen many people over the years, and maybe
that challenge is not for them. We have found
that even in our “off” years, you can still support
Eric and Vicki Merrell
50
Eric works as a manufacturing tech for a
pharmaceutical company and Vicki is a part-time
insurance representative. We are both very active
in our church, Eric as an elder, both as a vacation
bible school and Sunday school teacher, and we
currently are assisting Mark Dant in gathering
support for The Ryan Dant Healthcare Act (H.R.
1441) in Washington, DC. We also have spent
time volunteering on the Legislative Committee,
Family Support Committee and served one term
on the board of directors for the Society. We
love going to the movies as a family as well as
spending time at the park, and we just returned
recently from Destin, FL, our first family vacation
in years.
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.
Make Life Easier with Personal Health Records
Everyone should be able to access, understand and use their personal health records (PHR). Keeping
your own health records allows you to be an active partner in your healthcare. It also can help save
you time and money by:
• reducing or avoiding duplicate tests
• helping you prepare for checkups and appointments
• ensuring that new healthcare providers have your health history
• enabling you to receive faster, safer treatment and care in an emergency or when traveling
• giving you access to your health data when your doctor’s office is closed
So how do you start?
Begin tracking your health information in whatever format works best for you: paper, computer
files or an online service. Keep your PHR stored securely, just as you would protect other personal
information, such as financial records. You can request copies of your medical records from your
doctors’ offices and facilities where you have received treatment.
Ideally, records from your various healthcare providers should be kept together in one place. This
way, your PHR provides a single, detailed profile of your health status and healthcare activity—right
at your fingertips!
Another option to consider is electronic records, which can be managed online or kept on portable
computer storage devices (USB drives). Both options offer your doctor quick and handy access to
your health information. If you do use an online service, make sure you understand how your health
information will be used and protected.
A good place to learn more about managing your PHR is www.myPHR.com (a site provided as a free
public service). Remember, you can create a PHR at your own pace, so start with your very next trip
to the doctor!
Suggested material to include in your PHR:
• personal identification, including your name and birth date
• people to contact in case of emergency
• names, addresses and phone numbers of your physicians, dentists and specialists
• important events, dates and hereditary conditions in your family history
• health insurance information
• current medications and dosages
• allergies or sensitivities to drugs or materials such as latex
• copies of correspondence between you and your doctors
• educational materials or Web site links (such as those about MPS)
Resources | Helpful Information
New NAGLAZYME.com Web Site Up and Running
This information was reprinted from the BioMarin spring 2009 newsletter. Information in part reprinted from the American Health
Information Management Association and the American Medical Informatics Association. © by the American Health Information
Management Association. All rights reserved.
51
Resources | Helpful Information
Kakkis EveryLife Foundation
Developed by Dr. Emil Kakkis, who discovered the enzyme replacement therapy for MPS I, the Kakkis
EveryLife Foundation is dedicated to improving the treatment of patients with very rare disorders
through education and changes in the process regulating the development of therapies. Information
can be found at www.curetheprocess.org.
Advocating for your Child’s Educational Needs
By Kendra J. Bjoraker, PhD, LP
University of Minnesota
“Succeeding in school is one of the most therapeutic things that can happen
to a child!”
It is that time of year again; the excitement of
getting your children ready for the new school
year…buying new shoes, clothes and supplies.
And although this holds true for families with
lysosomal storage diseases (LSDs), feelings
of anxiety, fear, and uncertainty also arise.
The complex and continuous nature of their
conditions and the high level of skill their
care demands differentiates children who are
medically fragile and often developmentally
disabled from the general population of
children with chronic conditions. Families
identify, obtain, coordinate, and monitor a wide
range of services for their child, one of which is
educational services.
Advocating for educational services is
overwhelming and often frustrating for many
parents with children requiring more than the
“regular” curriculum in order to learn. The
following suggestions are offered to help assist
your child as they enter school this fall.
The basic foundation for being effective in
collaborating with regular and special educators
is knowledge of the laws, regulations, and rules
governing special education. Read the law, learn
the law, and do not rely on anyone else to tell you
what the special education laws mean for your
child. This is the key that will unlock the door
for your child. I encourage all parents to obtain a
copy of their states rules and regulation through
the Department of Education.
Individual with Disabilities
Education Act (IDEA)
The IDEA has six principles. The first four
principles reflect the actual processes that
schools follow in order to provide each student
with a disability, the benefits of a free appropriate
education in the least restrictive environment.
52
The last two are the procedures that parents and
students can use to hold the schools accountable
for carrying out the first four principles.
Children with LSDs typically are classified under
“Other Health Impaired.” The term includes a
chronic or acute health problem resulting in
limited strength, limited vitality or alertness,
where special education and related services are
needed because the disease adversely affects his/
her educational performance.
During the Individualized Education Program
(IEP) meeting, parents need to make sure their
child’s disease is clearly defined and a description
of this is added to the IEP. It is important that
the team, including the teacher, knows what
the disease is and how it is manifested in the
educational setting. For example, if you have
a child with a diagnosis of Hunter syndrome
(MPS II), you would define it and the symptoms
(orthopedic, language, inattention). It is
important to realize that if a child has a disability
but does not need special education services, the
child will not be eligible under IDEA but may be
eligible under Section 504 of the Rehabilitation
Act. Section 504 does not receive federal money
for providing 504 accommodations, so there is
less incentive for serving children under these
laws, nor do the children have an IEP under a
504, so parents beware.
Children with LSDs also begin receiving services
early. Children (ages 3–9) may qualify in one
or more of the following areas: physical development, cognitive, development, communication
development, social or emotional development,
or adaptive development. Also, a state may choose
to provide services to infants and toddlers, Early
Intervention (ages 0–3). Infants and toddlers
who experience the trauma of life-threatening
illness and treatments are entitled by federal law
Home and Hospital Services
Because the treatment for some lysosomal
storage diseases can involve bone marrow
transplantation, many children qualify for
home and hospital educational services. Home
and hospital teaching is designed to provide
instruction to public school students who are
unable to attend a regular school program due
to a physical or emotional condition which is
verified by a physician. Instructional services
are available to all qualified students during
convalescence or treatment time in a medical
institution or therapeutic treatment center, or
at the student’s place of residence. The length
of instruction for students in a full-day program
is six hours per week; however, parents should
know this time is not fixed and can be increased
through a team decision.
Some children with LSDs also receive enzyme
replacement therapy (ERT); therefore, missing
school up to one day a week. In the state of
Minnesota, there is a section in our rules and
regulations entitled “Care and Treatment.”
Children receiving ERT qualify to receive direct
instruction at the facility in which they are
receiving ERT or another agreed upon place.
Parents need to check with their state regulations
to receive services for their child’s excessive
absences due to medical treatment.
Individualized Educational Program
(IEP)
The IEP is not a “one-size-fits-all” program.
Individualized Educational Programs are unique
when a child has a neurodegenerative disease.
For children with degenerative conditions,
the IEP may include related services such as
physical and occupational therapy or other
services to address the child’s needs in the areas
of self-help, mobility, and communication. This
is to help maintain the child’s present level of
functioning for as long as possible so that the
child benefits from special education. The IEP
team is required to review a child’s existing
health data which may include evaluations and
information from parents, medical professionals
or neuropsychologists who know the child and
the child’s specific medical conditions. The
IEP team can then include appropriate services
designed to extend current skills throughout
the child’s enrollment in school, especially if
the disease results in negative progression and
cannot be fully corrected or stabilized.
Resources | Helpful Information
to early-intervention programs that try to head
off developmental delays. These services do not
depend on a family’s ability to pay. According
to a child’s and family’s needs, the child may
receive physical and occupational therapy,
speech therapy, and special instruction. The
family may be entitled to family services, such
as training, counseling, or case management to
help coordinate services.
Remember, because your child’s medical
status often changes, an IEP team meeting
can be requested more than once a year. The
contents of an IEP should include: the present
levels of academic achievement and functional
performance, annual goals, educational
progress, and special education with related
services. Also included should be statements
of the special education and related services,
supplementary aids and services (based on peerreviewed research), program modifications
or supports for school personnel, and finally,
accommodations and alternate assessments.
Accommodations, modifications, and alternative assessments may be necessary for a special
needs child to succeed at school. The terms
accommodations and modification are frequently
used interchangeably, but they are not identical
in their effect on teaching and learning and have
important differences. Both terms are included
in IDEA and are described below.
Accommodations are defined as alternative ways
for students to acquire information or share what
they have learned with you. Accommodations do
not lower the difficulty level nor expectations
for the student’s achievement, although there
may be changes in teaching materials used,
testing materials, or even in the instructional
environment. Once these changes are made,
the standards of achievement remain the same.
For example, a child may be unable to read an
assigned textbook; therefore the accommodation
would permit the student to listen to a taped
version. Once the student has heard the story,
however, he or she must take part in all required
testing and assigned work. Accommodations are
individualized to suit the student learning style
and developmental level. Other examples are
highlighting, rehearsal, color coding, memory
joggers, visual cues, number lines, alphabet
strips, flip charts, organization/transition cards.
Modifications are more intensive changes
to the difficulty level and/or the quantity of
material to be learned. Modifications also may,
in fact, change the way material is presented
and the nature of testing. Modifications create a
different standard for children whose disabilities
require more intense adjustments. An example
53
continued
Resources | Helpful Information
of the modification may be seen in a spelling test
that reduces the number of words to be studied.
Basic modification decisions become long-range
goals for the child’s educational program, and
they serve as a guide for educational decisionmaking on the daily and long-term basis.
For students with more complex special needs,
an alternate assessment may be most appropriate.
Alternative assessments measure a different area
of skill or concepts than normally used for a
given grade level or subject.
Assistive technology includes “any item, regardless of its origin, that is used to increase, maintain,
or improve functional capacities of a child with a
disability,” but excludes “a medical device that is
surgically implanted, or the replacement of such
a device.” Assistive technology is considered in
children with LSDs with significant orthopedic,
visual, hearing, or language impairments.
Because some children with LSDs are both
medically and cognitively involved, many should
be eligible for Extended School Year (ESY).
This is not summer school. ESY services are
provided to maintain the skills or behaviors the
child has developed as identified on the IEP.
There are six factors that the IEP team should
consider in deciding if the child is eligible for
ESY one of which is regression and recoupment.
Regression refers to a decline in knowledge and
skills that can result from an interruption in
education. Recoupment is the amount of time
it takes to regain the prior level of functioning.
The issue is whether the benefits derived by
the child during the regular school year will be
significantly jeopardized if they are not provided
an educational program during the summer
months (or breaks).
Parent Participation
The following are suggestions that I have
gathered over the years from parents and
professionals, from being a former special
education teacher myself, as well as a parent of
children with disabilities.
Parent Participation in Meetings:
• To establish and maintain an effective team
atmosphere be positive. Don’t allow your
emotions to interfere; be factual, prepared,
and ask for clarification.
• Know the philosophy of your principal. Does
he/she truly believe all children can learn?
• Educate the team on LSDs. This will give
them more information to plan your child’s
educational program.
54
•L
earn about tests and measurements.
•D
ress professionally.
•G
ather all your child’s medical and educational
records that are pertinent to the meeting.
Review your child’s records. What are their
strengths and weaknesses, what do you want
them to achieve this year, what are your longterm goals for your child, how does your child’s
disability affect his or her ability to learn?
•W
rite down questions and concerns.
During the Meeting:
•S
it next to the administrator or the person who
will ultimately make the decisions.
•A
sk questions, define and describe issues,
problems, and offer solutions.
•S
tay on task.
•L
earn to be a negotiator. Prioritize important
issues.
•T
ake notes. If it is not written down, it never
happened!
• I f at all possible both parents should attend
the meeting and present a unified front. If
not take a friend or advocate so you don’t
feel vulnerable and can process the meeting
together afterwards.
•D
o not sign the IEP at the meeting if unsure.
Take it home and read it.
After the Meeting:
•A
dd documents from the conference to your
files.
•S
end a follow-up letter of your recollections
about what happened and a brief thank you
letter. Include your understanding of what
the school agreed to, and issues that went
unresolved.
•K
eep written records, keep written records, oh,
did I say keep written records.
•T
ake care of yourself or you will become
exhausted and burn out. Pace yourself.
In closing I would like to extend encouragement
to those families who have children with
disabilities. Having a child with special health
care needs means becoming his or her voice.
Do not give up; there are many knowledgeable
professional advocates that will assist you through
this process and ultimately improve the quality
of life for your child.
By allowing port access for either the right or left side, the Simple Shirt offers
comfort and convenience during infusions for all ages.
The Simple Shirt was created by Gina Stephenson, a home infusion nurse
who was inspired by her patient, Davis Barkley (MPS II). The unisex shirts are
available in fleece or cotton, and are custom made based on the measurements
provided ensuring a perfect fit.
Gina is donating 10 percent of the profits of Simple Shirts to the National
MPS Society. Contact Gina at 502.641.1559 or [email protected] with questions.
SIMPLE SHIRT ORDER FORM
Name _______________________________________________________________________________
Address _____________________________________________________________________________
Telephone number (___________) ______________________________________________________
Resources | Helpful Information
The Simple Shirt Is Simply Wonderful
Please take the time to measure accurately.
1) Measure from the clavicle to the bottom of the port. ________ inches
2) Measure from the top of the shoulder to the bottom of the abdomen. ________ inches
3) Measure the width from shoulder to shoulder using the back side. ________ inches
4) Measure the circumference of the stomach (all the way around). ________ inches
5) Indicate which side the subclavian port is on. b right b left
6) I f the port is located in a different area (e.g., on the side), measure from the clavicle or middle
of the armpit to the bottom of the port and state location. ________ inches ________ location
7) Measure the head circumference. ________ inches
8) Is this shirt for a b boy or b girl.
SMALL AND MEDIUM SHIRTS = $30.00 plus $10.00 postage
LARGE AND EXTRA LARGE SHIRTS = $35.00 plus $10.00 postage
All shirts will be made from fleece unless 100% cotton is requested. Because shirts are custom made,
specific delivery dates cannot be given. Make checks payable and send to:
Gina Stephenson
396 Floyd Fork Drive
Shepherdsville, KY 40165
Checks must clear bank before shipment.
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.
55
Resources | Helpful Information
Have you visited the Member’s Only section of the
National MPS Society Web site yet? If not, you are
missing out!
The Member’s Only site offers:
MPS Memorials — A new section recently added by the Family Support Committee where
families can submit a memorial tribute and photo to be viewed online by other members of the
Society. To submit a memorial, contact Laurie Turner at [email protected].
Remembering Our Children — A memorial listing of those who have lost their battle with
MPS and related disease. This section was created at the request of our membership. Due to timing,
it is often several months after a child has passed that members receive their copy of Courage and find
out about their friend’s passing.
Membership Directory
— Do you need to find another member’s phone number or
address and can’t find your membership directory? Now you can download a copy and save it to your
computer, so you will always have it ready when you want to chat with other members.
Contact Information — We know it is hard to remember to tell everyone when you have a
new address, phone number or e-mail address. You can let the Society know of theses changes with
just a few clicks of your mouse.
MPS Publications — Past issues of Courage, Angels Among Us, Guide to Special Events and annual
reports are just a few of the publications available for download. In addition, Courage is usually posted
before it is mailed, so if you can’t wait for the latest issue to arrive in your mailbox, stop by to read it.
Please take a few minutes to visit the Member’s Only section of our Web site if you haven’t done so
already. Also remember this section is constantly updated, so visit often for news and updates.
Send an e-mail to [email protected] if you need your member sign in and password.
UnitedHealthcare Children’s Foundation
to Offer Medical Assistance Grants
The UnitedHealthcare Children’s Foundation (UHCCF) is offering support to meet the needs of
children across the United States with assistance grants for medical services not fully covered by
health insurance.
Parents and caretakers across the country will be eligible to apply for grants of up to $5,000 for
healthcare services that will help improve their children’s health and quality of life. Examples of
the types of medical services covered by UHCCF grants include speech therapy, physical therapy,
and psycho-therapy sessions; medical equipment such as wheelchairs, braces, hearing aids, and
eyeglasses; and orthodontia and dental treatments.
Any child 16 years old or younger living in any UnitedHealthcare region of the United States and in
need of financial assistance for healthcare services will be considered eligible for a grant. Families
must meet economic guidelines, reside in the United States and be covered by a commercial health
insurance plan.
For program guidelines and eligibility requirements, visit the UHCCF Web site at www.uhccf.org.
56
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
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
Visit www.minimiracles.ca for more information.
57
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.
58
GOLD Web site
www.goldinfo.org
The Global Organization for Lysosomal Diseases
(GOLD) is an international collaboration of
scientific and medical associations, patient groups
and commercial organizations dedicated to
improving the lives of all patients with a lysosomal
disease. The GOLD Web site, www.goldinfo.org,
has general information about lysosomal storage
diseases (LSDs), symptoms and inheritance
patterns, plus information about specific LSDs.
To access all the discussion forums and details
on the member directory, register on either the
Discussions or Member page.
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.
59
MPS Classifications
60
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
Steve Chesser
4764 Candleberry Ave.
Seal Beach, CA 90740
562.594.7814
[email protected]
MPS II parent
Sharon Cochenour
273 Brown Chapel Road
Clarksburg, OH 43115
740.993.2753
[email protected]
MPS II 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
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