Volume 33 | Number 3 | Fall 2009 COURAGE

International Walking for Personal Sponsor a Child Let’s Give MPS Day a Decade, Health Records for a Cure a Standing MPS community and Still Make life easier New fundraising Ovation to… celebrates, honors Going Strong! and be an active program allows MPS individuals are and remembers MPS Society partner in your families to honored for their walk/run events healthcare participate in resilience, courage mark 10-year walk/runs by proxy and passion for life anniversary Do you have a personal story MISSION STATEMENT or an article idea for a future The National MPS Society exists to find cures issue of Courage? Please for MPS and related diseases. We provide hope write to us and remember and support for affected individuals and their to send photos! families through research, advocacy and awareness of these devastating diseases.

The National MPS Society’s office (ground floor on left).

Submission Cutoff Date Issue To submit information to Courage, please send text National MPS Society Jan. 1...... Spring (preferably via e-mail) to the address at right. Photos PO Box 14686 April 1...... Summer should be labeled whenever possible. Please note cutoff Durham, NC 27709-4686 July 1...... Fall dates. Any information received after these dates will t: 877.MPS.1001 Oct. 1...... Winter be included in the subsequent issue. p: 919.806.0101 The articles in this newsletter are for informational f: 919.806.2055 purposes only, and do not necessarily reflect the opinions E-mail: of the National MPS Society and its board of directors. [email protected] We do not endorse any of the medications, treatments or www.mpssociety.org 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. Table of Membership & CONTENTS Subscription Form

President’s Letter...... 2

Executive Director’s Letter...... 3 Name Program Director’s Letter...... 4

Development Director’s Letter...... 4 Affected Individual’s Name

New Members...... 5 Date of Birth Donations...... 6–7 Diagnosis Family News...... 8–10

International MPS Awareness Day...... 11–20 Relationship

Fundraising...... 21–29 Address Legislative Update...... 30–33 City, State, ZIP Making Headlines...... 34–35

Upcoming Events...... 35 Telephone

Remembering Our Children...... 36–37 E-mail Standing Ovation...... 38–41 Family b $50.00 A Warm Welcome...... 41 Foreign b $80.00 Research News: Hope for the Future...... 42–48 Professionals b $75.00 Volunteer Spotlight...... 49–50 Corporate Memberships Available

Resources | Helpful Information...... 51–59 Would you like your name to appear in our directory? b YES b NO MPS Classifications...... 60

Board of Directors...... 61 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

Please send your membership form and check to: National MPS Society PO Box 14686 Pictured on the cover: Durham, NC 27709-4686 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. 1 “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 Indeed, it’s the only thing that ever has.” Society’s Web site to not only make it responsive for families but more informative for the general This inspirational, yet pragmatic quote was public. We have had a number of federal written by Margaret Mead, an anthropologist legislators, foundations, and other non-profit who studied and worked on cultural and social organizations visit our Web site to authenticate issues. Although I have read a few periodicals on our Society. Our sister organizations rely on our Margaret Mead I always come back to this quote, Web site for up-to-date information. This is an and it remains very applicable today with our area which we must continue to keep updated Society. Without our devoted members, we would and supportive for our members and others. This have never grown so fast and helped so many committee is looking into other innovations that with MPS diseases. can help educate and bring about awareness to Although we all take great pride in the our cause. accomplishments made with our Society’s The Family Support Committee interacts with successes, we cannot sit on our laurels and expect our membership on a daily basis, and we are so the future to be bright. Remembering that many honored to be able to sponsor your child with an of our children do not have treatments and none educational scholarship, to financially assist your have cures, we must continue to push forth in loved one in obtaining hearing aids, to assist you many areas to ensure cures will be found and in attending our conferences and to learn your that MPS and related diseases will be eradicated ideas on how families need support from our

President’s Letter President’s in our future. organization. The Family Support Committee Our goal is to continue to forge new continues to explore other services. paths and directions in a variety of Although we do not mention the Technical areas. As you recently read in our Support Committee as much as we probably previous Courage, a new path for should, these dedicated ad hoc committee our Society is to support and thank members take on technical aspects with pride, Dr. Emil Kakkis for his approach knowing that funding for researchers is vital to to “fixing” the FDA through his our mission of curing MPS and related diseases. foundation’s legislative efforts. Dr. They work closely with our Scientific Advisory Kakkis is primarily known as the chief Board on each and every grant the Society offers medical officer with BioMarin, and and awards. for introducing enzyme replacement therapy into our MPS community. Last, but certainly not least, our fundraising is With his retirement from BioMarin, another critical extension of our Society. For such Dr. Kakkis is not sitting home a small membership with these rare diseases, we swinging on his front porch, but produce some amazing efforts in so many areas: instead is trying to fix what he sees as bake sales, recitals, dances, golf tournaments a broken system when it pertains to clinical trials and our walk/run events. In the first six months for those with the ultra orphan diseases. Please of this year, we have already had more than 30 go to www.curetheprocess.org to read and sign fundraising events held by loyal members and up for Emil’s blogs. their families. These events raise many dollars and critical awareness in our local communities. Another area your Legislative Committee is Our families are not bashful in telling their pursuing is to have an MPS caucus to continue communities that “someone I love needs a cure.” to raise awareness on a federal level. We will Your board of directors is not bashful either. not stop there! We will continue on new paths, and combine efforts with other non-profit Although I give many kudos to those who actively organizations whenever we have common ground participate on all these committees, the praise for issues. This is evident with our combined efforts the successes really belongs to you, our members. with other nonprofits and fighting for H.R.1441, Instead of being cynical because of your diagnosis The Ryan Dant Healthcare Opportunity Act with MPS or related diseases, you take the time of 2009. to thoughtfully tell us when we are deficient in your expectations. You again give us your praises

2 continued for the successes our Society has accomplished to heels for Opal. Thank you for the calls, cards, Executive Director’s Letter help your loved one. Our board of directors and e-mails and wishes for Trent and Amy. staff acts upon all feedback we receive. As I end the President’s Message, I will leave you We have received many calls from enthusiastic with my late mother’s favorite quote by Winston families looking forward to our 2009 Disney Churchill which also is very applicable to the World conference in December. It will be here success of our Society: before you know it, and I look forward to seeing and visiting with everyone. “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 on our board of directors and the Web habits of Generation Y, ages 18–32. interviewing the applicants. The They found that our messages won’t reach the ballot with the slate of candidates right audience unless they are delivered via will be mailed to Society members the appropriate medium and presented in the for their vote in early October. audience’s “conventional” language. “The Web We have set the date for our 24th continues to be populated largely by younger Family Conference, Sept. 30– generations, as more than half of the adult Oct. 2, 2010. The meeting will be Internet population is between 18 and 44 years held at Knott’s Berry Farm Resort old. But larger percentages of older generations Hotel in Los Angeles, CA. Laurie are online now than in the past, and they are Turner and I met with our conference planner doing more activities online…” The National in June, and we are thrilled to be offering this MPS Society, through the work of Kim Frye and opportunity to our families. Knott’s Berry her ad hoc committee, is developing a fresh, new Farm—America’s 1st Theme Park—is steps away Web site that will allow us to embrace today’s from the hotel and offers rides and attractions audience and various means of communication. for the entire family. Another ad hoc committee, the Governance Our current daily focus is DISNEY! We can Committee chaired by Kris Klenke, has researched hardly wait to see everyone again and share in and developed materials geared to enhance the your delight of this very special conference. forward vision of the Society. The Governance The deadline for registering is Nov. 13; you can Committee is responsible for ongoing review download the forms from our Web site, or call and recommendations to enhance the quality, the office to have us send you the forms. Hope future viability and visionary leadership of the to see you in Florida! 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

3 The Family Support Committee The FSC awarded $20,000 to families attending has awarded more than $303,000 the Annual Family Conference to be held at to families since 2004. This money Disney World in December. We received 45 has helped families purchase applications, with families eligible for a maximum durable medical goods, provided of $750 each. In addition, each family also scholarships for post high school qualified for the complimentary guest room for education, waived membership two nights at the Coronado Springs Resort. We dues for families experiencing are funding 29 families who have never attended financial difficulties, funded one of our conferences and three families who regional social events and assisted have previously attended a conference. families to attend our conferences through travel The FSC also has funded 20 $1,000 Continuing scholarships. Education Scholarships. Scholarships were In the first half of 2009, we awarded $45,000 to awarded to three individuals with MPS, 15 siblings families. and two parents.

The Family Assistance Program (FAP) can provide Applications for all our Family Support grants of up to $3,000 for durable medical goods programs are available at www.mpssociety.org/ that have been denied by insurance. Families content/4141/Family_Support_Program/. have been able to purchase hearing aids, hot We hope your family will be able to attend the tubs, adaptive trikes and power seats for the Disney conference with us. While we have family vehicle, just to mention a few of the items. awarded all of our scholarship money, there may Extraordinary Experiences (EE) is our newest be funding available within your community or program, designed specifically for individuals state. We have heard from several families who ages 14–24 with MPS and related disease to have have received funding from state programs and an extraordinary experience. We are helping local civic organizations. It never hurts to ask, a young lady with ML attend band camp this and you may receive good news that funds are summer. 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 coincide with their events, Sponsor a Child for National MPS Society during our a Cure. See page 22 to read about how your 10th anniversary of these events! family can be part of this wonderful experience It’s that time of year again and race if you are unable to attend a walk/run in 2009. coordinators and the Society are Every child and their family can experience the working hard to get the word out satisfaction of raising funds and participate in about MPS and related diseases. these events from afar. Raising awareness and funds is Each month the Society is fortunate for the critical for eventual therapies to phone calls received from families and friends treat all of our supported diseases. across the country asking what they can do to Though we have lost a few events this year, we help raise funds and awareness for MPS and have gained others! This is an opportunity to say related diseases. The creativity of our members is thank you to all of our families for their past years commended! If you are interested in organizing of hard work and dedication to raising funds your own event next year, please give me a call for research. The number of research grants and we can talk through the process. A new event supported by your efforts is significant. guide has been updated for 2009–2010.

Program | Development Director’s Letters Program | Development Director’s This year the walk/run events in North Carolina and L.A. will be launching a new program to

4 Kristi and John Abel Michael and Staci King New Members Hewitt, TX, parents of Evan Abel, MPS III C Jeannette, PA, parents of Mikey King, MPS II Mona Ahmed Elizabeth Kramer Los Angeles, CA, mother of Mohab Alnajjar, MPS II Strausstown, PA, mother of Marcus Kramer, MPS II Isaia Barrie Dawn Laorenza Plano, TX, mother of Amadu Barrie, MPS VI Foster, RI, mother of Aurora Laorenza, MPS III B Meagan Berry Sergio Lemus Salt Lake City, UT, mother of Christopher Ray Berry, Salt Lake City, UT, father of Sergio Lemus, MPS II MPS III Antonio Daniel Corral Lopez and Cynthia Brown Guadalupe Fabela de Corral Lithonia, GA, friend of Jerimiah Stanley, MPS VI Pharr, TX, parents of Walter Corral Fabela, MPS VI Moises Rezende Bueno and Regiane Eunla Oliveira Shelly Maddox Atlanta, GA, parents of Joao Gabriel deOliveira Amarillo, TX, mother of Ian Adams, MPS III Bueno, MPS VI Zoraida Marquez Ana Castillo Bellflower, CA, mother of Nathan Marquez, MPS IV Paterson, NJ, grandfather of Guadalupe Castillo, Rosalba Martinez MPS VI Houston, TX, mother of Fabiela Martinez, MPS VI Chiu-In-O Sandra Miller Hyde Park, MA, mother of Tszkin Leung, MPS II Sebring, FL, sister of Wayne Eppehimer and Jennifer and Chris Christianson aunt of Jason Madison, MPS II Vancouver, WA, parents of Kristofer Christianson, Cassandra Morley MPS II Wyoming, MN, mother of Payton Morley, MPS II Justin Cimolonski Barbara Naporano Deer Park, NY, adult with MPS II Port Richey, FL, mother of Joseph Naporano, MPS II Grant and Mieke Embry Khunsha Numan Moody, AL, parents of Lucas Matthew, MPS III A Glenshaw, PA, adult with MPS IV B Mary Estrada Kimberly Pruett Morris, IL, mother of Sara and Danielle Estrada, Vacaville, CA, mother of Mia Pruett, MPS III C MPS III A Dawn Michelle Rodriguez Maria Figueroa Irving, TX, adult with MPS IV A El Monte, CA, mother of Jeffrey Figueroa, MPS VI Daisy Santiago Julie Layton Fisher Waterbury, CT, mother of Peter Martinez, MPS VII Tacoma, WA, mother of Jessica Fisher, MPS VI Michael Schleter Shaun Flora Minneapolis, MN, friend of Jenny Klein, ML II/III Syracuse, NY, adult with MPS II Rosa Perez Seda Heridania Gonzalez New Bedford, MA, mother of Joseph and Victor Brooklyn, NY, mother of Yelurv Gonzalez, MPS VI Seda, MPS II Gabina Gramajo Shantrice Stanley White Plains, NY, mother of Kelvin and Kenneth Conyers, GA, mother of Jerimiah Stanley, MPS VI Gramayo, MPS VI Aisha Thompson Chester and Jennifer Hembree Winston-Salem, NC, mother of Tyson Thompson, Alcoa, TN, parents of Lucas Hembree, MPS III MPS II Kimberly Hemingway Dave and Hiromi Tilsner Clinton, NC, mother of Christopher “Antonio” Ventura, CA, parents of Max Tilsner, MPS II Hemingway, MPS II Sharon Walker Alia Hernandez Jersey City, NJ, mother of Sharon Walker, MPS III C Santa Ana, CA, mother of Janneth Figueroa, MPS VI Tayyab Zahid Melissa Hogan Glenshaw, PA, adult with MPS IV B Spring Hill, TN, mother of Case Hogan, MPS II Clarence Hopwood Gainesville, GA, adult with MPS II 5 Morgan and Blake Iman Woods Aaron Jackson Donations McDermott Jennifer Vincent Belle Vernon High School Kris Gehl Soccer Booster Club Harry Zuber’s birthday Nicholas Mendelke Darlene and John Duall In Honor of Mel and Millie Anhalt Elizabeth Willis Robert and Evelyn Hiles Jerry Anhalt’s birthday Waverly and Oliver McNeil Betty Jackson Mel and Millie Anhalt Teresa Mendel Donations James and Elizabeth Melvyn Anhalt’s birthday Claudette Richardon McPhillips Barbara and Michael Eaker In Memory of Susan Solomon Max Mingo’s birthday Susan Woodward Nick Boyce Katherine Brownlee Dylan Bontems Joseph Zacovic Simone Melo Helen Kondrich Jo Booth Alexanndra Kreps Andrew Jump Sharon Browne Rachel Brooks Matthew Michalko William and Catherine Michele Satre Jewell and Rita Butcher Donald and Becky Mingo Abernathy III H.C. and Marilyn Douglas Matthew Caldwell Ingrid Gomez-O’Toole Valerie Barnett Richard and Karen Mayfield Mark and Stephanie Alan Schlossberg Sharon Cochenour Caldwell Daniel and Sharon Miller Kevin and Sheila George Toby Mingo’s birthday Bernard and Darlene Moore Arthur and Brenda Hawkins Blair Chapin Katherine Brownlee Lucille Westfall Sandra Jacoby Barbara and David Wiedman Rita Emerick Robert and Patricia Westfall Joann McCaughan Erik Fletcher Ronald Jaffe Melinda and Donald Nau Bobby Bourgeois Jessica Craig Alexanndra Kreps William and Michelle Perkins Donald and Becky Mingo Louise and Gary Salter Judy Grundfest’s birthday Debbie Puckett Dorothy Chambers in Gail Vittitow Mel and Millie Anhalt Hugo Van Der Moer’s birthday and in honor honor of her great grandson Brian and Jessica Wellman Anyssa Guajardo of his granddaughter Luke Chambers Carol Westwood St. Joseph Catholic School Michelle Hopkins Krista Crews Thomas and Evelyn Denton Joe and Jonathan Karas Karina Guajardo Helen Allison Atley and Corrine Sharp Irwin Nack Vic’s Auto Rebuilders Riley Muller Atley and Martha Sharp Haya Yeshaya Cheyenne Hill Debra Karnehm Kelly Crompton Amanda Keith Dawn Hill Austin Nace John Anderson George and Gail Anderson Case Hogan Thomas and Evelyn Seils Ronald and Beverly Johansen Audrey Lawson Jane Overback Leslie Phillips’ graduation Terri Klein Brent Davenport Christopher and Jennifer Maddie Holland’s high Mary Kroohs Kevin Maher’s birthday Moeller school graduation Wake Forest Wesley Joseph and Margaret Maher* Amy and Klane White Foundation Karly Davis Ryan Mask Betty and Bernard Harvilla Mr. and Mrs. Tom Icard Allison Restemayer Women of the Moose Karl and Gwendolyn O’Dell Melissa Bryant Brian and Kristin Gruhot Sellersville Chapter #471 Charles and Donna Rice Sydnee Jensen Megan Rust Esther Pung in honor of her Valerie Floyd Linda Jean Cohen Levin Amanda Stout great grandson Austin Noll Janice Izlar Kraig Klenke Zachary Townsley Mike and Nancy Green Ernest and Debra Dummann Jennifer Radtke William Friedrich Mark and Barbara Holliday Sharon Dickol Robert Idalski Michael Vellard Olivia Lovell Ernest and Agnes Kuebler Claytor Allred and Barb McKittrick Danny Gniazdowski Lisa Albitz Lance and Karol Lynch Susan Taylor Jennifer Vincent Annette Pung Mr. and Mrs. Ken Margolis’ Iman Woods Shane Groth VSA Partners, Inc. Anna Melton anniversary Maddy Wigglesworth’s Hannah Eileen Salcher Mel and Millie Anhalt 10-year transplant Mardel Hayes Peggy Shaper anniversary Austin and Cheryl Noll Eunice Savor Amy and Klane White Spencer Holland Mel and Millie Anhalt Rick Call Steve and Amy Holland*

6 Noah Scott John and Isabella Rodrigues Christine Bickley Matching Donations Carl and Donna Rose D.F. and J.B. Nelson Evangelina and Sammy Accenture Gifts Santos Robert Smith Timothy and Michelle Annis George and Athena Alberta Presutto Bank of America B & M Trailers, Inc. Sarantinos CA, Inc. Matching Gifts Kay Barry Harold Sparks and Calogera Simonaro and Program Amir Belson in honor of Aiden Spaeth Edward Schuchman ITW Foundation 3-for-1 B.L. and Ann Bickham Firefighters at Wright Lorna Shannon Matching Gift Program Cheryl Bien* Patterson AFB, OH Greg Sharrits* Merck Partnership for Lorraine and Frank Bien Kevin Sheridan Brian Stanley Giving BioMarin David and Rebecca Silkey Stephen Foland PG&E Corporation Richard and Dorothy Bosse Mike and Barbara Smith Thomas and Monika Campaign for the Fred and Nancy Bucher Jack and Barbara Sorter Williams Community James and Marcelene Casey J. Tanchek Schneider Electric/ Justin Cimolonski Nathan Thomas David and An Tootill Square D Foundation Amanda Crawford* Tom and Kim Whitecotton* Trimble County High School Yum! Brands Foundation, Inc. William and Laura Dapper Claude and Roselyn Wells David Lynn Waddle Dennison Electric, Inc. Tom and Kim Whitecotton* Sulema and Jose Aguillon Debra and Edward Donovan Whitney Young Children’s Charles Ainsworth Fundraisers Susan Downing Foundation Sheryl Alexander Jean and Al Ducham Ascension Health MPS Russell and Alice Witt Robert and Carol Bryce Geri Lynn Edwards* Jeans Day fundraiser Nikki Hirsch Rodney and Kathleen Finzel Chapin family golf Rita Janoe-Ellinger Janet Forde* fundraiser Lucille Klingler Stephen and Kimberly Frye* Clarke family MPS Day Yen-Chi Le Haiyan Fu fundraiser Amy Mullin Timothy and Roslynn Garvin Fletcher family California Phyllis Roberts R.C. and V.A. Gates Pizza Kitchen fundraiser Karen Williams Michael and Marcia Geller Gibson family — Clara’s Genzyme Corporation Peg Weaver Courage fundraiser James and June Murphy Guajardo family Krazy Socks Giles and Associates Stephen Weaver fundraiser Consultancy Ruth and John Heis Help Aiden Spaeth David Giuffrida Larry Hersam Extinguish Hunter Dennis and Christine Goggins Barbara and Joseph Lesak Syndrome Luis and Angela Guajardo* golf fundraiser Susan Healy Susannah Jacqueline White Hill family MPS Day Muhanad Jawad Amy and Klane White* fundraiser Gary and Paula Kacer Jennifer Wingate Kris Klenke — Silpada Mr. and Mrs. James Kalteux Mel and Millie Anhalt jewelry sale John and Janet Kappel Maxine Birch Eric and Vickie Merrell — John and Janelle Kunellis Johnnie and Will Haltom Sean and Cody’s Trivia Cheryl and Lloyd LoCascio Robbin and Anita Hodgkins Night Douglas MacLeod* Ingo Kuenzel Cindy Miller class Troy and Dianne Mitchell* Marilyn and Albert McGee presentation fundraiser Mitchell and Cheryl Moore Myrtle Redus Montgomery MPS Day Scott and Patricia Morris Kay Thompson fundraiser Rene and Patricia M’Sadoques Stacy Turowski Montgomery Links for Lucas Paul Murphy fundraiser Carol Nareski Muller family MPS Day Elizabeh Neufeld fundraiser Mary Anne Oliger* Schnare family Logan’s Thomas and Vickie Patterson Heroes fundraiser Mark and MaryEllen St. John’s Reformed Church Pendleton* MPS Day bake sale in Beth Pletcher honor of Austin Nace * Annual Fund donor St. Patrick’s Church MPS Day fundraiser 7 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 the specialists and three months later Jessica had not know the true meaning of blessings. Jessica a BMT. Again we were blessed to have found a Family News was 17 months when she was diagnosed with donor willing to give a precious gift. MPS I. She had plenty of congestion, a kyphosis Fortunately we also found a great support that doctors said she would outgrow, a heart network. MPS families had a “meet and greet” murmur that didn’t go away after a year, clouded picnic for us and we were instantly connected corneas and glaucoma. She was with the Society. Our family did fundraising and the first grandchild on both sides people we have not been in touch with for years of our families and she was doted stepped forward to help. I was able to care for on constantly. Now she is almost 12 Jessica every day while Jason had the freedom to years old and her perseverance and come and go from work at odd hours depending strength inspire us and those she on Jess’s needs. encounters. Jessica is celebrating her 10th anniversary of the When she was diagnosed our life BMT. She is now going into the 6th grade! She stopped. We locked the doors and loves to swim, dance, sing and ride a bike. She has didn’t answer the phone. We were been in several plays and has earned the bronze in denial that this beautiful little award for Girl Scouts. We hike and camp every girl was going to die if we didn’t put year and Jessica is always determined to make the our faith in the hands of others. best of every situation. She has vision problems, But we were blessed. We live in among others, but she is a remarkable friend, Minnesota about 15 minutes from cousin, student and daughter. She reminds me the University’s Fairview Hospital. to be carefree and live every day as your last. We We saw a special on the news about Jessica Moore (MPS I) have had 10 more years with her and every one another little boy who was having a bone marrow is a gift from God. She is our miracle and a true transplant (BMT) for this disease we had never blessing. heard of and that the University of Minnesota specialized in their care. We were connected with Colleen Moore

Donna Weaver (MPS IV) and her husband Harold 8 Samuel was diagnosed with MPS II when he was 3 years old. He is now a cute Family News 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 must continue to develop his academic, communication and cognitive Samuel Santos (MPS II) and his sister Samline 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 Sasha Segal (MPS III) Division baseball

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!

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 Andrew Cochenour (MPS II) when he gave his report. Patrick Cochenour wearing his Elvis costume 9 Born July 29, 1981, Eddie Bell Jr. weighed 5 lbs., Eddie’s high school years were up and down. 11 oz.—a healthy, normal child; we thought. As He was sick often with respiratory infections. I months passed, Eddie began to have chronic thought I would lose my mind, but I had to stay bronchitis, eye and ear infections, leading strong for Eddie. eventually to tubes in his ears. As parents we In 1998 my mother died, and a year later thought this was normal—all kids have some Eddie’s best friend was killed. Eddie’s prom of these symptoms. We later found out he had Family News and graduation was a time of grief instead of ptosis, which means the eyelid muscles are weak. happiness. In 2000 his hip became dislocated and We felt we could deal with that. At age 2 surgery he developed a restrictive lung disease. Following was done to correct this problem. that Eddie did well until 2003 when he began When Eddie was 4 we began to notice hard to get sick again. In July of that year he began knots on his fingers and wrist. He also started to receive Aldurazyme infusions and his health YOU ARE having migraine headaches. I talked with his began to improve, until 2005 when he developed IMPORTANT pediatrician who said not to worry, he would grow a serious respiratory infection. At present Eddie is TO US, PLEASE out of whatever it was. Eddie then developed an doing well. The treatments have really improved KEEP IN TOUCH. Please remember abdominal hernia; it was one thing after another. his quality of life. It has changed Eddie’s life for to let the Society We still thought these were just normal childhood the better. problems. know if you are I am now legally blind and am no longer able moving. In addition Almost a year later Eddie was diagnosed with to drive Eddie to his doctors appointments. I to helping keep MPS I. This could not be happening. How am no longer working. Due to the stress from printing and postage could this be? It must be a mistake. How could daily living, my job, my condition and Eddie’s costs down, you’ll this happen to us? I thought I would never stop condition, I guess it all caught up with me. It help us keep our crying. The words hurt and pain cannot describe is very important to take care of yourself when database up-to-date. the feelings I felt as a mother for her child. At taking care of a loved one with a critical illness. Keep us informed that moment our lives changed as we knew it. of new addresses, Debra Bell (mother and caregiver of Eddie, MPS I) telephone numbers, As we tried to pick up the pieces in our lives, I e-mail addresses, and grieved my son’s life. I took it hard. From age 5 to any interesting news 12 Eddie’s health was managed by constant care. about your child. 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 Debra and Eddie Bell Jr. (MPS I) months. He never complained, he just wanted to get better.

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 2009 International MPS Awareness Day 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)

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 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 Danny with rare and devastating disorders. So Facebook asking people to wear purple, and to who better to make this plea than the families who take the time to read something, learn something deal with the healthcare system on a daily basis.

International MPS Awareness Day International MPS Awareness and teach something about MPS. I also asked for I will be featured in a video of families talking a few prayers for the families who have lost loved about healthcare and insurance problems they ones to these disorders, for the families currently have come across and asking Congress to “Speak dealing with the real life challenges of MPS, and now for kids.” I was able to give information for the doctors and research teams working to about Hunter syndrome, the cost of enzyme find treatments. replacement therapy, the shortage of local pediatric specialists willing to accept Medicaid, I wore purple at the hospital while Danny was and the hoops we have to jump through to make getting his 136th infusion of Elaprase. During sure Danny keeps his Medicaid so we don’t get this hospital visit I was approached by the senior buried in the deductibles and copays. I hope I marketing manager of the children’s hospital to touch enough hearts in Congress so they take the participate in a video for “Speak Now for Kids,” time they need and really make changes that will an organization that is working with children’s not only make things better for my family, but for hospitals around the nation to urge Congress all the other families out there facing the same not to rush through healthcare reform just for struggle we are and more. the sake of being able to say it’s done. They need to take the time to really look at childrens’ Carolyn Hinton (mother of Danny, MPS II) healthcare and understand that kids’ needs are different from that of adults. Especially kids like

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 Sam’s school had purple ribbons for all of the following week will be “Random Acts of Kindness” International MPS Awareness Day students and teachers to wear for MPS Day. An week at the school. It is amazing that one little announcement was made for the children and letter can bring a school together to help kids staff to wear purple and there were a lot of purple who may have a tougher time fitting in due to shirts coming out of the school upon dismissal, various conditions and circumstances. The books as well as purple ribbons hanging in classrooms I have written about Sam will be out and the kids throughout the school. I had written a letter are making posters with all kinds of information to Sam’s school principal explaining that MPS about MPS to make everyone in the entire school Awareness Day is often celebrated by only the more aware. Sam’s sister, Jenna, and her group family of the child with MPS because it is a disease of friends all wore purple to high school as well, that is not well known. His school is going to have explaining MPS to those who asked why they all another MPS Day in addition to several other had purple on. We also watched a movie as a “disability days.” There will be a skit performed family and just celebrated being with each other. by several children, one of whom will be Sam, We feel truly blessed to have both Sam and Jenna. 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 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 International MPS Awareness Day International MPS Awareness 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.

Jamie Fowler (mother of Jack, MPS II) 14 I made about 400 purple ribbons that I attached to cards that said: “MPS Awareness International MPS Awareness Day 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.

We have received wonderful feedback from people who wore the ribbon and wanted Oliver and Waverly McNeil (MPS III) 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 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.

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. Sasha (MPS III) with her 5th grade class 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.

International MPS Awareness Day International MPS Awareness 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) Skip, JoAnn, Cheyenne (MPS II) and Travis Hill

16 Ciara and Hunter have MPS III, so for MPS Day we all wore purple, of International MPS Awareness Day 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 The Bennett family celebrates MPS Day. balloon to catch up to the others and they all found their way to our MPS angels in heaven.

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.

Celebrity night for MPS was held at the Crabcake House in Poquoson, VA, on Saturday, May 16, to raise Mackenzie with her teacher, Mrs. Heckle 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 I took purple frosted cookies that I made to pharmacy in the back room seeing where they Children’s Hospital. The student pharmacist I compound prescriptions (this is where we put was working with also made cookies with white together the bags with cookies/ribbons, etc.) frosting with purple ribbons. She also bought and to listen to Jake the owner talk about his little bags and purple ribbons and printed out experience when he first met me and looked up templates that had purple ribbon with the word MPS as well as answering all of Ledia’s questions “HOPE” which we tied onto the bags and laid on what MPS is, how it has affected me, etc. and out for anyone coming into the pharmacy to how different it was for her to see someone in take. We also had a lot of different pamphlets. person with the disorder vs. initially just reading I made posters with pictures of our kiddos with about it after Jake talked to her about me. It was the different disorders, as well as put out the neat and totally something different! I think if decorated kite from last year. Overall I think we educated even a couple people and providers it looked really lovely and was a great location (and I’m sure there were a lot more than that as given that most every patient and family had the pharmacy is always very busy) on what MPS is to bypass that area coming from the parking then I think our goal was accomplished! garage to get into the clinics and hospital. It was really kind of neat to be on the ‘inside’ of the Erica Thiel (adult, MPS I) International MPS Awareness Day International MPS Awareness 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 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

International MPS Awareness Day International MPS Awareness 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 Joint Fundraising Policy Fundraising News The Society is fortunate to have families and addition to the Society, are encouraged to friends throughout the year contacting us with conduct separate fundraising events for each the excitement of hosting a fundraising event organization. to increase awareness about our cause and to • If extenuating circumstances exist that make raise funds for the Society. The evolution and separate events impractical, fundraiser creativity of ideas in fundraising have been a coordinators should contact the development pleasure to follow and to see carried out by our director to submit a joint fundraising plan for dedicated families. consideration. Every so often we have the inquiry about hosting • Events must comply with the Family Fundraiser a joint fundraising event, which is an event Reimbursement Policy by keeping thorough hosted by one or more coordinators that raises records of all monies received, expenses funds for two or more unrelated organizations incurred and paid, formal request submissions and their missions. For example, a charity dinner (using the MPS Society reimbursement form) that issues proceeds to both the National MPS and all sponsorship funding recognized. Society and the Cancer Society. • Upon approval of the fundraising plan by the As a nonprofit, we act as the intermediary Fundraising Committee—taking into account between donors and beneficiaries and have an such issues as estimated donations expected, ethical obligation to ensure proper handling clarity to the donors, impact on other Society of funds to carry out our mission. Nonprofit sponsored events, etc.—the joint fundraising fundraising should be conducted according event will be considered a Society sponsored to the highest ethical standards with regard to event subject to the corresponding benefits solicitation, acceptance, recording, reporting and obligations. and use of funds. Nonprofits should adopt clear policies for fundraising activities to ensure It is our obligation as a 501(c)(3) nonprofit to Fundraising responsible use of funds for designated purposes provide clarity, documentation and to protect Committee: and open, transparent communication with our donors. Steve Holland, chair donors. As the Fundraising Committee finalizes the Steve Chesser The Fundraising Committee at this time is development of the new Joint Fundraising Policy, Ernie Dummann finalizing a Joint Fundraising Policy. There are a we encourage any questions or comments you Steven Frye number of issues to consider when coordinating have, which can be directed to Steve Holland, Anne Gniazdowski a joint event: Fundraising Committee chair, at steve@ Angela Guajardo mpssociety.org, or Terri Klein, development • For ease of recordkeeping and reduction of Larry Kirch director, at 919.806.0101. complexities, fundraiser coordinators wishing Terri Klein to raise funds for another organization, in 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 Sponsor a Child for a Cure Each year we have families inquiring how can we with sponsorship forms. Photographs will be do more for our children. How can we make a printed and attached to the assigned walk/run difference and help raise awareness and funds participant who will run on your family’s behalf. for MPS and related diseases research? How can At the end of the race, a photo will be taken we participate in a walk/run event if we are not of the participant and mailed directly to your able to host one ourselves and cannot attend family along with a courage award medallion. another? This is a new program within the walk/run events The Society wants to provide an opportunity for the Society. We are starting this year with two Fundraising News for each family and their loved one affected by events and will grow this program into all walk/ MPS or related disease to participate in a nearby run events next year. The assigned events this walk/run event, even if they cannot be there year will be: in person. We understand how gratifying it is 1. Boone, NC — Terri Klein to help raise funds for research and that each dollar truly adds up! 2. LaVerne, CA — Tami Slawson

Through Sponsor a Child for a Cure, families We encourage your family to participate. Register, can participate in a selected walk/run event on get sponsors and make a donation! This will be behalf of your affected child, young adult or a truly inspiring program and an opportunity for loved one who has passed on by assigning a your family to help make a difference and fight walk/run participant to attend on behalf of your for a cure! family. The family, in turn, can raise sponsorship for their loved one before the race begins. For more information, contact Terri Klein, development director, at [email protected] or 919.806.0101. A photograph of your loved one needs to be e-mailed or mailed directly to the Society office. The Society office will provide families

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 Walking for a Decade, and Still Going Strong! Fundraising News 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 down in buckets. Many avid runners came out even though it was pouring and hoped to run, Dorothy Mask, with the help of her parents, but the course was flooded and too dangerous. Fred and Joyce Koehler, has been hosting Ryan’s Donations came in any way and more than Run every year since 2000. Held at Lenape Park $10,000 was raised that year. Another memorable in Sellersville, PA, more than 200 participants moment was in 2008 when no volunteers were attend this annual event. Dorothy has 30–40 available to lead the singing of the national volunteers, without whose help the event would anthem, so Dorothy’s brother Tom offered to do not be possible. it. He stood up and began singing “My country In 2000, the National MPS Society began tis of thee.” The crowd was confused but began promoting the walk/runs as the key fundraising to sing along. He realized he had messed up event for the Society. Dorothy, a good friend of but it was too late to stop so he kept on singing. Linda Shine who was president of the Society When he was finished he said “Play ball” and left at the time, admired Linda’s dream to have the it at that. They still tease him about it today. walk/runs become the major fundraising activity Every year, Pennsylvania State Representative for the Society as a way to get families involved Paul Clymer attends Ryan’s Run. He always talks in both raising money for research and raising about Ryan which makes Dorothy very proud. awareness of MPS across the country. Dorothy She loves being able to share stories about Ryan’s decided to host an event of her own in her local life. Dorothy’s nephew Jonathon, who is like a community. She received much needed advice brother to Ryan and Jeremy, attends Ryan’s Run from Linda and from her brother, Tom, who likes every year. to participate in runs and marathons. Tom was a big help in getting the first run off the ground. Dorothy doesn’t worry about how much money they raise, what is important to her is having the Every year, Dorothy’s mother plays a key role in opportunity to teach people about MPS and to planning and organizing Ryan’s Run. She solicits keep alive Ryan’s memory. Dorothy continues many of the donations from corporate sponsors. to do fundraising for the MPS Society because it Dorothy’s son Jeremy collects donations from helps release the feeling of helplessness. It allows his classmates at school, his teachers, friends and her to focus her energy on something positive neighbors, and from his boy scout troop. Plaques and it gives her a great deal of satisfaction to are awarded each year for the highest individual know that she is doing something to fight to find fundraiser and the highest group fundraiser. a cure for this devastating disease. Jeremy has won the plaque for highest individual fundraiser for the past six years.

One of the things Dorothy enjoys most about Run for Erin hosting Ryan’s Run is seeing the same people Stacy and Tom Peters have been hosting the come back year after year. She has watched many annual Run for Erin every year since 2000. The children grow up and change over the years. event has been held at the Woodstock High People from every aspect of Ryan’s life come School in Woodstock, GA, for the past nine years. out to support the event. It has meant so much Erin currently attends Woodstock High School. to Dorothy to have them there. Dorothy also Each year, more than 50 volunteers help with loves having the opportunity to educate people pre-event planning, race day duties and post- about MPS. event clean up. Approximately 350 participants For Dorothy, every run is memorable but a few attend this event. Many of the volunteers are stand out as being especially remarkable. In high school students who are classmates of Erin. 2005, the event was rained out. Dorothy and her In the past nine years, Run for Erin has raised parents sat at the park watching the rain come more than $190,000 for MPS research. 23 continued Tom and Stacy were avid runners. When they cheering and applause from participants and received a letter from the National MPS Society onlookers as she completed the race course. in 2000 announcing the walk/runs as the annual Another special moment was when they hung a fundraising event for the MPS Society, they medallion around the neck of Tom and Stacy’s decided to host an event of their own. The only 9-year-old daughter, Kelly, who won her age problem was they knew nothing about planning group the very first year of Run for Erin. They and organizing a 5K run. Participating in a 5K also did the same for Stacy’s father and Tom’s run is a lot different from organizing one. But mother who won their respective age groups. that did not stop them. They attended a few 5K One of the greatest joys of hosting Run for Erin runs in the area to see what takes place and they

Fundraising News is that it brings their entire family together every took a bunch of notes. They went home and year. It is like a family reunion. Family members began the process of recruiting volunteers to come from Ohio and Tennessee the weekend of help plan their first event. Their efforts paid off the run. and they raised $39,000 the first year, an amazing accomplishment for a couple of amateurs. A Run for Erin board of directors has been created and is made up of Gene and Laurie Sanders, To help them celebrate the 10-year anniversary Jana and Randy Clift, Virginia Richards, Ginny of Run for Erin, they will have a reporter from Hardwick, and John and Donna Richardson. the local CBS news station, CBS Atlanta, as the 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.

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 Run for Erin for MPS III B. Erin knows the event is all about her. She sees people from all aspects of her life Grand Marshal. They are hoping to get some TV including family, schoolmates, teachers, friends coverage before, during and after their event and neighbors. She greets them all with her this year, something they have never had. Run joyous expressions and giant hugs. 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 5K for Katie/Do it for Danny with Run for Erin advertised on it and they will Linda and Mike Shine are proud to be among the promote Run for Erin during the morning show. first of the 5K runs beginning in 1999. The event One of the Run for Erin corporate sponsors, has been held at the Log House Pavilion Kerr Chick-Fil-A based in Atlanta, is donating more Park in Downingtown, PA, for the past 10 years. than 100 of their stuffed cows to be distributed at Initially it was just Linda and Mike along with Run for Erin this year. One of the cows will have some friends and family members. Fortunately, a special coupon around its neck and the person many people pitched in to help, some who were who gets this cow will get a free Chick-Fil-A meal directly impacted by family members who had once a week for an entire year. MPS, including Sue Wanstall, Les Sheaffer and Sue Rattman; others were people who wanted to One of Stacy and Tom’s most memorable do more to help with the cause. The effort of moments was in 2006 when they came up with raising money for research for a cure is a very a way to allow Erin to actually participate in the compelling argument for anyone. So, with a 5K walk/run. It became known as “Push for needed cause and a great deal of enthusiasm, Erin.” Volunteer “pushers” pushed Erin in her the first 5K for Katie took place in October wheelchair the entire 5K course to clapping, of 1999. 24 continued 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.

Katie unfortunately only attended the first two 5K for Katie/Do it for Danny 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 care- givers 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 5K for Katie/Do it for Danny and Mike in hosting the run. Amy and Ray brought a great deal of determination to the run with the usual suspects—more than 250 runners and helped expand the effort to raise money for that year, one of the lesser attended events. After research. Linda and Mike were very glad to have the last runners finished and the awards were the added help in expanding the fundraising presented the sky grew dark and the rain started efforts. again.

Over the years there have been many different Everyone scurried to their cars, their eyes were as hands helping to raise awareness of the struggle wet as their faces knowing their guardian angels the families impacted by MPS face every day. The had worked their magic with the weather to allow fact that so many organizations offer gifts and the run to take place. They realize that those contribute in so many ways has made the efforts who attend are but a few of the many who work very worthwhile. The runners who turn out, “behind the scenes” to help make it happen. from high school teams to senior communities, makes the hard work seem easier—once the run Most years names of the sponsors are printed is finished and the park is cleaned up! on the shirts. This year they will have the names of the many children who have succumbed to Many different events take place in conjunction MPS since they started the race imprinted on with the run—from pony riders to a cheerleading the shirts. Each represents a family and a child competition. The Shine and Miller families whose life has been altered due to a very rare have been fortunate to have had almost perfect genetic disease. While we all question why it weather each day of the run. One of the more happens, it happens. dicey situations was when they had rain in the days before the run. There were flood warnings, We realize that much has been done and there is strong winds and severe weather warnings for always more to do. The money raised by 5K for the area. They were all very anxious but reported Katie/Do it for Danny and the many other events to the park at 5:30 a.m. as always, but watching have made a difference in the lives of those who the creek in the park and all eyes were on the sky. come to run, to walk or to lend a helping hand… The run was to start at 8:30; at 8:00 the sun came for that we are forever grateful. out and the winds stopped. The race went off

25 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

Fundraising News 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 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”!

Because of the devastating flood of 2008 in neighbor invited us to play in this year’s Links for Cedar Rapids, IA, with many companies and Lucas outing and seeing them (Lew and Stacey) corporations forced to reduce staff, tightly in action and what they are doing for their son managing budgets and cutting back on donations and others like him is unbelievable. We had toward nonprofit events, we were hit with many never heard of MPS until now. You can tell they challenges in the planning of our 2009 Links for love their children. You can count on us every Lucas MPS Golf Outing campaign. Not knowing year.” what to expect, we were successful at attracting In addition to the participation we were more than 30 teams to the Saddleback Golf fortunate to receive generous donations from Course in Solon, IA, for a four-man best shot the JM Swank Company and several local outing on June 26, 2009. Our attendance was retailers who provided gift certificates, golf balls, stellar with 30–40 additional family, friends and coupons, golf attire and giveaways. In addition spectators who came out to support our kids. We to meeting our immediate goals, awareness were honored to have two other MPS families, and fun, we anticipate more donations will be the McDermott and Valdez families, participate directed to the Society in the upcoming months and take part in the joy of the day’s activities. as word of mouth continues to spread. We ask Lucas (MPS III) was on hand to enjoy his event that other families who are considering taking and attention from all of the pretty ladies (always on an awareness event to just do it! Our kids will his favorite). Other families and friends made reap the overall award. the event worth every minute spent planning, organizing and asking for donations. Stacey and Lew Montgomery 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 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 27 continued • 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

Fundraising News 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 tobe 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 On Your Mark, Get Set, GO! Fundraising News 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 Krusade for 5K for Katie/ for MPS Khunsha & MPS Do It for Danny 8/29/09 9/19/09 10/11/09 Clarksburg, OH Allison Park, PA Downingtown, PA Sharon Cochenour Khunsha Numan Linda Shine [email protected] [email protected] [email protected]

Laps for Lucas MPS & Mito Walk/Run MPS Run for 8/30/09 9/19/09 Their Lives 5K Cedar Rapids, IA Eagen, MN 10/12/09 Stacey Montgomery Krysten Myking Fort Worth, TX [email protected] [email protected] Scott Hardin [email protected] River Run for Ryan Nathan’s North 9/5/2009 Carolina Walk/Run MPS Walk/Run L.A. Guttenberg, IA for MPS 10/17/09 Jonathon and Marie Hunt 9/26/09 LaVerne, CA [email protected] Boone, NC Tami Slawson For more information Terri Klein [email protected] or to register for Miles for MPS [email protected] an event, go to 9/12/09 Post Office Café’s Grand Rapids, MI BioMarin 5K Walk/Run Annual Fun Run www.mpssociety.org Laurel Radius 9/27/09 for MPS [email protected] Novato, CA 10/17/09 Kathie Ward Babylon, NY Sowden Family & [email protected] Kerri Rose Friends Walk for a Cure [email protected] 9/13/09 10th Annual Run Auburn, MI for Erin Evan Reed Family Josh and Sheri Sowden 10/3/09 Fun Run [email protected] Woodstock, GA 10/24/09 Stacey Peters Mountain Grove, MO Jack’s Run for MPS [email protected] Laura Hiler 9/19/09 [email protected] Eden Prairie, MN Ryan’s Run Dara Persson 10/10/09 Thank you to the following walk/ [email protected] Sellersville, PA runs already held in 2009: Maria Mask Kassi’s Kause, Travis Air Force The Heartland Run [email protected] Base, CA, May 2009 for MPS 9/19/09 MacKenzie’s 5K Strides for Sara, Fair Haven, Ames, IA Walk/Run NY, June 2009 Alyssa Hajek-Jones 10/10/09 [email protected] Poquoson, VA Jennifer and Steve Clark [email protected]

29 We are formally kicking off our Policy with Opportunity Act of 2009. At printing this Partners (PwP) program, and by now you should proposed legislation has 46 cosponsors and have received correspondence from the Society is growing by the day. These members, along on this exciting new legislative movement. With with other MPS families, called in advance to the 111th Congress abuzz with topics ranging make 50+ appointments during their brief visit. from special education, healthcare reform, etc. After returning from their trip Vicki and Eric July 2009 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 Society members join Mark Dant in Washington to support H.R.1441 out your PwP form, and give us your ideas and suggestions as well as any legislation you find Merrill sent this note to the Society: “I think we that can help our membership, or due harm to were received very well on Capitol Hill. Vicki our families. If you have not received your PwP and I had seven meetings ourselves, and were letter and form, please call our office or refer to amazed by the way people responded to our our Web site. plight. When we showed pictures of Sean and Cody, and discussed their struggles to date and In May, Legislative Committee member Steve the challenges they face in future, you could Holland accompanied MPS members Mark see that they understood the boys’ struggles.” Dant, Eric and Vicki Merrell, Dawn Chercrallah We thank all our MPS families and staff for and Melissa Bryant to call on the House of diligently writing, e-mailing and calling their Representatives to gain additional support Legislative Update #48 representatives whenever we need our voices for H.R.1441, The Ryan Dant Healthcare heard in our nation’s capitol!

Legislative Vice President Joe Biden Announces Kareen Dale as Committee: Special Assistant to the President for Disability Policy Ernie Dummann, chair First time a president has had a special assistant focused exclusively on Steve Chesser disability policy Debbie Dummann Stephen Frye Vice President Joe Biden recently announced Kareem Dale as special assistant to the president for Tom Gniazdowski Disability Policy. “The commitment that the president and I have to Special Olympics and people Steve Holland with disabilities is deep and abiding. And we are backing up those words with real action at the White Terri Klein House,” said Vice President Biden. “This is our first step to ensure we have a strong advocate for Austin Noll people with disabilities at the highest levels of our administration.” MaryEllen Pendleton Dale, who is partially blind, will have direct access to the president in this role and he will coordinate Laurie Turner the administration’s efforts to see that people with disabilities are on a level playing field with all Barbara Wedehase Americans. Kim Whitecotton 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.

30 Department of Health and Human Services (HHS) Legislative Update | July 2009 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 astate 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, disease- specific 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 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

Legislative Update | July 2009 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 physician- Dr. Collins has a longstanding interest in the geneticist noted for his landmark discoveries of interface between science and faith, and has disease genes and his leadership of the Human written about this in The Language of God: A Genome Project, served as director of the Scientist Presents Evidence for Belief (Free Press, National Human Genome Research Institute 2006). He has just completed a new book on (NHGRI) at the NIH from 1993–2008. With Dr. personalized medicine, The Language of Life: Collins at the helm, the Human Genome Project DNA and the Revolution in Personalized Medicine consistently met projected milestones ahead of (HarperCollins, to be published in early 2010). schedule and under budget. This remarkable Collins received a bachelor of science degree in international project culminated in April 2003 chemistry from the University of Virginia, a PhD with the completion of a finished sequence of in physical chemistry from Yale University, and the human DNA instruction book. In addition an MD with honors from the University of North to his achievements as the NHGRI director, Dr. Carolina. Prior to coming to the NIH in 1993, he Collins’ own research laboratory has discovered spent nine years on the faculty of the University a number of important genes, including those of Michigan, where he was an investigator of the responsible for cystic fibrosis, neurofibromatosis, Howard Hughes Medical Institute. He has been Huntington’s disease, a familial endocrine elected to the Institute of Medicine and the cancer syndrome and, most recently, genes for National Academy of Sciences, and was awarded adult onset (type 2) diabetes and the gene that the Presidential Medal of Freedom in November causes Hutchinson-Gilford progeria syndrome. 2007.

32 The 111th Congress: Legislation We Continue to Follow: Legislative Update | July 2009

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 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

Making Headlines 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=Search- www.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.

Disney Family Conference Upcoming Events 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.

35 36 Remembering Our Children Chad PyperwithhisfatherMark Mark Pyper returned home. has angel My others. serving in found is happiness true that demonstrates Chad’slife time. in turn, in us, of each by faced be to reality a is death that illustrates He unpredictable. short, is life that you been extended. Chad did not live in vain. His race is finished, but our time continues. Chad reminds have lives many as almost and possible made been have transplants 10 than registry,more marrow freedom, andwhodiedasaMormompioneerafterarrivinginUtah. religious seeking 1847 in Enland left who Barton, Kathryn grandmother great great, great, his from came “Barton” name middle His Scottish. in “warlike” means name first His ago. years 20 Phoenix the past 13 years, Chad lived with son. me Chad and was what born fun in we had! Chad was the perfect For him. with had I moment every and each relished and heartbeats his counted have I born teacher,was my he been day has the Chad Since years. 20 for inspiration my and life, my of love the 12/10/88–12/30/08 Chad Pyper, MPSII Bobby Bourgeois Diana Rodrigues Kristofer Arnold 13, MPSIIIA,6/10/09 27, MPSVI,7/19/09 19, MPSIII,8/4/09 13, MPSII,6/09 Rishi Garg Chad, a blessing I will always cherish. Because of Chad’s donors to the Arizona with years additional 18 us gave counsel spiritual This 36. number been have would Chad helped. were none survived, half transplants, received had boys prompted me to stop that pursuit. Six months later we learned that 35 Hunter prayer,lengthy after Spirit when, the mismatch a involving transplant marrow a with proceed to about were I and Sarah Chad. for match no But size. in it was raised and 5,000 donors were added to the Arizona donor registry, tripling $500,000 than more where drives, donor and events spearheadedfundraising match, marrow a Greeley,in neighborhoodand Arcardia CO, the in have neighbors our whereupon not did we insurance, having Despite option. an to be thought was transplant marrow bone a Initially, hope. us give doctors could who with meeting Washington, of University the and Carolina North of had and Chad I traveled to that the University of Minnesota, us University of Michigan, informed University He Hunter’s lives. syndrome and wouldn’t live past the age of 12. After that time, Sarah our Children’s changed Phoenix forever at doctor who a with Hospital met I and Sarah 1990, 14, March On Stephen Weaver Andrew Watkins 10, MPSII,7/18/09 42, MPSII,7/12/09 30, MPSII,5/3/09 Dan Rudny Brigham James Reneer, MPS II Remembering Our Children 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 38 Standing Ovation not justme,butalotofotherpeoplecangetthislife-saving drug. Savannah, had gotten the true drug, yet I did not. Luckily, the FDA approved the medicine and now also was getting somewhat less stiff, and she gained more energy. Everyone figured out that my sister, family knew who got the drug. After my sister began to improve, by the flattening of her stomach, she trial to get Adurazyme clinical the in be to approved were I and sister my thing, important most the probably Lastly,and Neuschwanstein Castle,inBavaria. called actually is which Cinderella’sCastle, the and lived Einstein Albert where see to got I Austria. her and cousin my visit to Zurich to husband for 11 days. They me took me throughout Switzerland and parts of Germany,flew as well as parents parts of my gift, graduation my For travel. to love I who haveitworsethanIdo,butfeelspecialtoreceivesuchagreataward.Thankyou. MPS with people know I surprised. was I award this a got I out found I when why is which girl normal just am I people. new meeting and things different many so enjoy I book. a non-fiction or historical book romantic good a reading room my in found be also can I But, music. great to listening Not only do I love sports. I also enjoy going to concerts with my friends. I love being with my friends and theHawks. Braves, the at tomahawk the game, Falcons Atlanta the at dance Bird” “Dirty the doing Thrashers, I loudly. cheer and face, my Atlanta the for puck-hat a wearing Georgia), paint of University the jersey,(except teams hometown my support the wear I up. dress I to go I game every at because with joke me to likes Johnathan list. my of top the at are Jackets TechYellow Georgia the and sports, We giveastandingovationto: every day. and MPS with envisioned an living award to of honor the individuals struggles who also battle daily MPS each and the knows who I, MPS with adult an Dengel, Denise by created was award This MPS. having of challenges many the facing while life for resilience,passion their and tenacity courage, for family MPS our in people Awardamazing Ovation honors Standing The Let’s GiveaStandingOvationto… Jennifer Prince,22,MPSI ® ; however, the trial was a double-blind placebo, so neitherthedoctornor my favorite school of all time, Georgia Tech. I am a HUGE fan of fan HUGE a am I Tech. Georgia time, all of school favorite my to goes he Craps, Johnathan boyfriend, amazing an have I to beableworkforGenzyme. State University to continue on with my major, marketing. I want College in Lawrenceville; however,Gwinnett I Georgia am to trying to go get I into now,Georgia of As class. during me teaching is in my to school understand book what trying my professor was nose my or computer my on constantly am I morning, next the due is that assignment an do to night at late up stay I student: college typical your am I I. MPS having with blessed been have I and GA, Lawrenceville, from am I Prince, Jennifer is name My David Radius, 15, MPS II Standing Ovation 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 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 Standing Ovation 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 A Warm Welcome 41

Christopher Dutcher (MPS II) University, University, and I graduated this past May with a dual MBA in marketing and management. At present I am living in the area Tampa and have been looking for a job. I business or management account doing position would like to get a friends with time spending enjoy I development. I’m Kurt also Vonnegut a and big family. reader, is my favorite author. Christopher My name is Jenny Klein and I am a senior at Dexter High School. School. High Dexter at senior a am I and Klein Jenny is name My diagnosed was I Before III. ML with diagnosed was I 8 of age the At I participated in all kinds of sports. I played softball soccer, and basketball. I also was a As dancer. I got older my gymnast, mobility became limited, but that ice did skater and not stop competitive me. I still enjoyed the everyday activities that children as danced competitively. my age did as well Currently I enjoy music. I marching band. I enjoy play dancing, jet skiing, going to the the beach, clarinet and acting/performing and am hanging out with friends. I in am a senior the our out helping and them with time spending love I so Scout Girl as just having fun. community as well in 2000. I was the first person first the was I 2000. in TM I graduated from the University at Albany-SUNY in 2005 with I a began degree graduate in school in communications. 2006 at Hofstra in the study but I later found out I was receiving the placebo. I wasn’t actually put on the until drug six months later. I received UNC the Albany Medical Center drug and most recently at county. Suffolk western of office oct/hemo the at I am now receiving infusions at Florida Cancer specialists in Clearwater. The National MPS Society welcomes Society MPS National The I was diagnosed when I younger brother was Cody and I 6 both have MPS years II. old; my I graduated from Brentwood High School Long on Island where I grew up. I started the FDA Elaprase for study but would like to introduce your family to the rest of the [email protected]. Society, please e-mail Laurie Turner at Dutcher (MPS II). A Warm Welcome introduces new Society members/families hello and say also to family offers new the members contact yet please moment, another a have you If another. one with connect to chance and welcome them into our MPS family. If you have been a member for a longer period of time, A Warm Welcome A Warm Jenny Klein, 17, ML III III 17, ML Klein, Jenny I take every day as it comes. I definitely had my share of ups and downs but that does not stop me can do whatever I set my mind to. Sometimes what I want. I have learned that I from accomplishing ML Having goals. your accomplishing in risk a always is there but agree always not might doctors the anyone as hard as twice work to have I time the of Most easy. not are life in things that me taught has help to there always are friends and family my fail I Whenever stronger. me makes only that but else me pick up the pieces. They are the ones who get me through the and day, without them I do not know where I would be. throughout hard worked have I choice. my of university the to going is accomplishment proudest My build helped I that say to proud am also I off. pay it see finally to nice is it and career school high my a labyrinth in the Huron Metro park with my Girl Scout troop. Three days on our hands and knees tribute great a been has it that seeing it, worth all was it but thunderstorms during dirt the in digging to our community. 42 Research News: Hope for the Future chemists. Discovery of new medicines and therapies requires careful scientific experimentation, scientific careful requiresdevelopment and evaluation. therapies and medicines new of Discovery an chemists. is research Biomedical cures. and andbiologists includingscientists, treatments many experimentationbycareful requiring process evolutionary effective developing of goal ultimate the with diseases and processesbiological study researchersbiomedical techniques, biotechnology Utilizing of both the life and physical sciences. causeillnessanimals.peopledeathandinin and Thisgeneral researchfield of includes many areas Biomedical research is the broad area of science that looks for ways to prevent and treat diseases that What IsBiomedicalResearch? contact Chelsea Rankin at 614.355.2897 or [email protected]. at Institute Research Nationwide The Children’s at Hospital, or Columbus, OH.office provider’sFor healthcaremore informationlocal and yourto make atan appointment,place take will study The A blood test will be done to measure blood cell count. To participate, patients must: This research project will focus on how the immune system is affected in patients with MPS III A or B. MPS III patients needed for research study other research methods whenever feasible. with animals replace and experimental techniques refine results,valid obtain to neededanimals of numbers the reduce to ways for look to continue Scientistsjudicious. and appropriate humane, is Thoseworking thefieldin biomedicalof research dutyconducthave to a research manner a in that than one percent of all the animals used in research. specificallyprimateslessrodents otherbred account laboratory research.and for and cats for Dogs, humans.However, approximately percent95research of animalsUnitedthe inStates rats,are mice, and animals afflicting both diseasesof study the for modelsuseful very provideanimals of variety A what benefits and complications they are likely to see in humans. medical of researchersgive better idea conductedanimalclinicalstudies to arefirst a trial.The a in and safe be to effective.seems If itthe resultswhether of thesee animal tostudies animalsare good, inthen humantested volunteers is are asked it to promising,participate seems therapy new the If discoversuchdrugsproceduresand usingalternative research methodsinvolvenotthatdoanimals. Animals are used in research to develop drugs and medical procedures to treat diseases. Scientists may the course of a disease. most that is used are people animals feel it would why be wrong reason to deliberately primary expose human a Finally, beings to people. health risks with in order todo observe to difficult be would which lighting), temperature, (diet, animals around environment the control easily can scientists they can easily be studied throughout their whole life-span or across several generations. In addition, to similar biologically are Animalshumans. They are reasons.susceptible to many ofof the same health variety problems, and they a have short life cycles for so subjects research good make Animals Animals are necessary to medical research because it is impractical or unethical to use humans. organisms. living in studied be only can that processesinvolve problems health and diseases Some Medical researchers need to understand health treatments.problems medical before newthey can of developsafety ways theto treatassure them. to and problems, health about more learn to animals use Scientists animals. and humans both affect that diseases treating and diagnosing for methods The use of animals in some types of research is essential to the development of new and more effective Why are animals used in biomedical research? • not have respiratory, urinary or other infections at the time of enrollment • not use medications that suppress the immune system at time of enrollment • be less than or exactly 20 years of age with a confirmed diagnosis of MPS III A or B 2009 Research Grants Research News: Hope for the Future 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 University of California, San Diego, CA “AAV2/5CMV-IDS therapy in MPS II mice: “Substrate reduction strategy for MPS III A” correction of CNS defects through IDS delivery across the blood-brain barrier” MPS are inherited metabolic disorders in which cellular polysaccharides (glycosaminoglycans) Children affected by MPS II lack the activity of can no longer be degraded, causing aberrant the enzyme iduronate 2-sulfatase (IDS). They storage of partially degraded material in accumulate compounds in their body that lysosomes. Children born with these diseases gradually kill their cells and damage all of their exhibit developmental abnormalities, organ visceral organs. A gene therapy approach was failure and mental retardation, defects that often initiated to treat this central nervous system result in death within the first few decades of (CNS) disease in a mouse model of MPS II. life. A subset of MPS diseases result from enzyme Affected pups were injected with viral particles deficiencies required by cells to degrade a class that targeted all of the visceral tissues. High of glycosaminoglycans known as heparan sulfate. levels of active IDS were produced, secreted into This research proposal will test if altering heparan the plasma and also taken up by the brain. This sulfate biosynthesis is an effective method of approach gave important results, as the mice preventing its accumulation in one of these were cured of their visceral organ defects, and diseases, specifically MPS III A. The approach surprisingly, they also showed amelioration of consists of genetically disrupting heparan sulfate the CNS phenotype. We now plan to extend this biosynthesis in MPS III A patient cell lines and approach to adult and juvenile MPS II mice and mouse models. Its efficacy will be assayed by to more specifically study how the IDS enzyme reduction of lysosomal storage and restoration of reaches the brain, in terms of its crossing of the normal cellular turnover of glycosaminoglycans. blood-brain barrier, which was thought not to be Positive results would justify and encourage permeable to high molecular weight proteins, the development of small molecule inhibitors such as the IDS. We plan to carry out these of heparan sulfate biosynthesis as a way to studies with a variety of different approaches. If accomplish substrate reduction therapy in successful, our studies should allow us to set up patients. The major advantage of substrate more efficient treatments for the cure of the CNS reduction is that these agents might access phenotype of patients with Hunter syndrome. the brain where glycosaminoglycan storage is highly detrimental and existing therapies appear ineffective.

continued 43 Dr. Alessandro Fraldi valve abnormalities from developing. Collagen is TIGEM, Naples, Italy the major protein that provides strength to the heart valves. We have found that the amount “Developing a systemic AAV-mediated gene therapy to cross the blood-brain barrier and of collagen is markedly reduced in heart valves treat the brain pathology in MPS III A” of MPS I and MPS VII dogs, and propose that this is what weakens the valve. We hypothesize MPS III A is an inherited disease caused by the that reduced amounts of collagen are due to deficiency of sulfamidase (SGSH), a gene that abnormally high levels of an enzyme that can encode an enzyme needed for the degradation degrade collagen, cathepsin K. If that is the case, of a large macromolecule called heparan sulfate. it might be possible to prevent heart valve disease As consequence, such substrate accumulates with inhibitors of cathepsin K that are currently in the cells and tissues of the affected patients being used to treat osteoporosis. This project may causing cell damage. The central nervous system identify a drug to prevent the development of is the predominant target of damage and in fact, heart valve disease in MPS. the MPS III A patients experience severe mental retardation and neuropathological decline that ultimately leads to death. Gene therapy is a Dr. Calogera Simonaro therapeutic option for several inherited diseases. Mount Sinai School of Medicine, New York, NY The aim of gene therapy is to substitute the “Novel anti-inflammatory therapies for the defective gene with a functional one. Often a mucopolysaccharidoses”

Research News: Hope for the Future modified not-pathogenic virus is used as vehicle to transport the gene in the affected tissues. In Enzyme replacement therapy (ERT) currently this study we will test the efficacy of a therapeutic is available for three MPS diseases, although the approach based on the delivery, via intravenous effects of this therapy on bone and cartilage are injection, of an adeno-associated virus (AAV) very limited. Thus, new treatment approaches bearing a functional SGSH. The AAV have a are clearly needed, alone or as adjuncts to tropism for the liver, so that upon injection the ERT. Our research will use animal models to virus will reach the liver that consequently will explore such new therapies. In particular, we will produce the functional SGSH. The functional comprehensively evaluate the bones and joints of SGSH will be then secreted from the liver and will MPS VI animals treated with the FDA-approved enter into the brain throughout the blood torrent. anti-inflammatory drug, Remicade. This drug Importantly, the SGSH will be opportunely targets the inflammatory pathway we have found modified to be secreted more efficiently from to be activated in MPS patients (TLR4). Our the liver and to make it able to efficiently pass the results to date have shown that Remicade can blood-brain barrier and transduce the brain. substantially reverse or prevent inflammation in MPS VI rats, and we now plan to comprehensively evaluate the bones and joints in animals treated Dr. Katherine Ponder with Remicade alone or in conjunction with ERT TM Washington University, St. Louis, MO (Naglazyme ). Since Remicade currently is “The role of cathepsin K in cardiac valve disease FDA-approved for the treatment of arthritis and in MPS” other inflammatory diseases, we are hopeful that completion of these animal studies will lead to MPS is due to a genetic deficiency in the activity clinical trials and approval for MPS patients. We of an enzyme that degrades glycosaminoglycans. also will complete the analysis of an important One of the serious manifestations of MPS is the “proof of principle” experiment in which the development of heart disease, which can result TLR4 inflammatory pathway is inactivated in in reduced delivery of oxygenated blood to the MPS VII mice. These results will provide the body and require surgery to replace the valve. basis for the continued development of anti- This can involve thickened heart valves that block inflammatory treatment strategies for MPS VI the flow of blood into the heart. Heart valves also and other MPS disorders, and identify new can be leaky, which allows blood to flow in the molecular targets for drug therapy. wrong direction. The goal of this project is to understand what causes heart valves problems, and to identify a therapy to prevent these heart 44 2008 First-year Reviews Research News: Hope for the Future 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 Dr. Adriana M. Montano Baylor College of Medicine, Houston, TX Saint Louis University School of Medicine, “HDAd gene therapy for lysosomal storage St. Louis, MO disorders” “Identification of genes for keratin sulfate biosynthesis: toward development of RNAi Dr. Brett E. Crawford mediated therapy” Zacharon Pharmaceuticals Inc., La Jolla, CA “Glycosaminoglycan inhibitors as substrate Dr. Mark S. Sands reduction therapies for MPS II” Washington University School of Medicine, St. Louis, MO Dr. Andrea Ballabio “Metabolic adaptions and phenotypic TIGEM, Naples, Italy consequences of blocking lysosomal recycling” “Modulation of autophagy as a potential therapeutic approach for MPS” Dr. Marta Serafini Dulbecco Telethon Institute at M.Tettamanti Dr. Brian Bigger Research Center Clinica Pediatrica Univ., Royal Manchester Children’s Hospital, Monza, Italy Manchester, UK “Marrow mesenchymal stem cell therapy for “The effect of heparan sulphate on stem cell MPS I” homing and engraftment in MPS I” 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 Dr. Mark Haskins Mt. Sinai School of Medicine, New York, NY School of Veterinary Medicine, “Pathogenesis and treatment of the University of Pennsylvania, mucopolysaccharidoses Philadelphia, PA “Lentiviral Vector Therapy for MPS VII” Dr. Alessandra Biffi San Raffaele Telethon Institute for Gene Dr Maria Fuller Therapy (HSR-TIGET), Milano, Italy Children, Youth and Women’s Health Service, “Novel efficacious and safe gene therapy North Adelaide SA, Australia approaches for the treatment of MPS I” “Membrane microdomains and improved clinical management for the mucopolysaccharidoses”

45 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

Research News: Clinical Trials [email protected]

Clinical Trials improvement in mobility, by six-minute walk MPS I test each month; improvement in spinal cord Intrathecal ERT for Spinal Cord compression by MRI imaging and somatosensory Compression evoked potentials at baseline and four months; improvement in lysosomal storage by spinal fluid One Year Extension Study Approved glycosaminoglycan levels at each treatment. Enzyme replacement therapy (ERT) has been Secondary Outcomes: Improvement in spinal developed for MPS I. ERT helps many physical fluid pressure, by opening pressure measurements ailments due to the disease, but does not treat the at each intrathecal treatment; improvement in central nervous system due to inability to cross hydrocephalus and other brain lesions by MRI at the blood brain barrier. The purpose of this study baseline and four months. is to test delivery of ERT to the spinal fluid via Expected total enrollment: 10 intrathecal injection in patients with MPS I. In this pilot study, recombinant human a-L-iduronidase Additional information can be obtained at will be administered intrathecally once per www.clinicaltrials.gov/ct/show/NCT00215527 month for four months to individuals age 8 and ?order=1 or by contacting the principal older with the Hurler-Scheie and Scheie forms investigator, Dr. Patricia Dickson, at 310.222.4145 of MPS I and spinal cord compression. For or [email protected]. questions regarding age, please contact Principal Investigator Dr. Patricia Dickson at 310.222.4145 MPS I Intrathecal ERT for Children or [email protected]. Being Considered for Transplantation If successful, intrathecal delivery could represent The University of Minnesota recently has a practical, straightforward method of treating obtained U.S. Food and Drug Administration central nervous system disease due to lysosomal (FDA) approval for the delivery of laronidase storage. into the spinal fluid of children with Hurler syndrome being considered for marrow/cord Primary Outcomes: Safety of intrathecal enzyme blood transplantation. The goal of these studies treatment by blood and spinal fluid tests each is to decrease the neuropsychologic decline that month; improvement in neurologic signs related has been observed in children with Hurler from to spinal cord compression, by neurologic the time the patients are initially evaluated to the examination and Japanese Orthopedic time they are one year from transplantation. The Association Scale each month; improvement hypothesis is that there is a significant delay in in neurologic symptoms related to spinal cord achieving sufficient enzyme levels in the brain compression, by subjective assessments and following transplantation, and that this may be independence of functioning scale each month; overcome by giving enzyme into the spinal fluid 46 continued Research News: Clinical Trials 47

. continued II Low ® www.shire.com -acetylgalactosamine -acetylgalactosamine N and have adequate TM intrathecal implantable access system TM hearing hearing (with or complete for shunt without a developmental have they if assessments. eligible hearing not are Patients II MPS with aids) to cord a had have hydrocephalus, of treatment the blood or bone marrow transplant or have other individual the place may that conditions medical at an increased risk during the trial. investigational clinical If you information are about interested the contact Dr. Joseph in Muenzer at clinical 919.966.1447 or trial, obtaining the please study more coordinator, Heather Preiss, Carolina of North RN, University at the 919.843.5731 at NC. Hill, Chapel at Profile MPS III MPS Shire Pharmaceuticals Group, as research part to evaluate of new its problem approaches of treatment to of the the is system, hoping to move its MPS III A program central nervous forward. If the trial to directly enzyme administer the into the hopes Shire II is successful, MPS with individuals central nervous system to of expand its is site Web Shire The A. research III MPS initiatives to include IV MPS The board of directors of Vivendy Therapeutics announced in late 2008 that medical they further as will well as stop program history the natural project development the of scope the in activities for enzyme replacement therapy treatment of A. IV MPS BioMarin clinical I/II phase Pharmaceutical a of Inc. initiation the announced 2009, 21, April on trial for BMN-110 or 6-sulfatase (GALNS), intended for the treatment treatment the for intended (GALNS), 6-sulfatase of MPS IV A, or company expects to Morquio report initial results A in the syndrome. The 2010. of half first group eligible to receive intrathecal enzyme after after enzyme intrathecal receive to eligible group a six-month observational period. The monthly intrathecal administration will of be given idursulfase-IT using a Port-A-Cath manufactured manufactured by Smiths Medical MD, Inc. (St. implantation. surgical requires that MN) Paul, be To eligible for the investigational intrathecal enzyme replacement clinical trial, study patients needs to have some developmental delay, cannot but be severely impaired, have received and tolerated a minimum of six months of intravenous weekly Elapraise

This phase I/II clinical trial is planning to enroll to enroll is planning trial clinical I/II phase This 16 patients with MPS II between the ages of to 8 3 years with evidence of early neurocognitive decline using an a both have initially will trial open-label, clinical This design. three-dose control a trial and patients) study (12 group treatment group (four study patients) with the control Currently Currently there is no treating the approved brain and therapy spinal cord for with in the severe form of MPS patients II. The goal of this study is to give a new preparation of iduronate- 2-sulfatase (idursulfase-IT) directly fluid surrounding into the brain the (intrathecal and administration). The spinal new cord form of iduronate-2-sulfatase has not been used before in patients with investigational. It has MPS not been approved by the II and agency. regulatory other any or FDA is considered Shire Shire Human Genetic Therapies is a sponsoring 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 developmental children delays. “A phase I/II with safety and ascending MPS dose II ranging study administration with via an of intrathecal drug idursulfase delivery device in pediatric patients with demonstrate evidence of MPS central nervous system II who involvement and who are receiving with Elapraise,” treatment said MD, Joseph PhD, Muenzer, trial. clinical the for investigator principal MPS II Intrathecal Enzyme Enzyme Intrathecal II MPS Trial Clinical Replacement MPS II MPS until until this occurs. Patients with Hurler syndrome who are between 8 and 36 months of age who have not previously received and enzyme are therapy being considered for at transplantation the University Patients of receiving laronidase in the Minnesota spinal fluid are also eligible. will be on intravenous laronidase prior to transplant. The study will of involve laronidase given four during a doses 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 at be reached can who Orchard, Paul is Dr. study 612.626.2961, or by e-mail at [email protected]. [email protected]. at e-mail by or 612.626.2961, Alternatively, Teresa Kivisto, nurse coordinator, can be reached at 612.273.2924 or by e-mail at [email protected]. Research News: Treatment Therapies 48 eeoe ad s rdcd y hr Human Shire by produced is was and Elaprase developed Europe. in countries many and Canada States, United the in use for approved been has which II MPS of diagnosis confirmed a il eev wel itaeos nuin of infusions intravenous weekly receive will subjects study, the of phase escalation dose the During identified. been already have study the continuation phase. All in patients to be enrolled in trial escalation approximately 20 patients dose followed by a open- treatment within-patient an as label, designed is study I/II phase The this exciting development.” Children’sHospitalhonored very ispartbeto of withinreach for these patients, and Birmingham now is therapeutic a of therapy.Hope potential patientsour havewhobeenwaiting longa for so Hospital, added, Children’s“This is a very exciting announcement for Birmingham Disorders, Metabolic in consultant MD, Hendriksz, Chris sulfate.” keratan clear to lysosome the reaches and vitro in chondrocytes Morquio human into up taken Ourexperiments have also shown that GALNS is calcified bone and importantly, the growth plate. different zones of the bone such as bone marrow, and cartilage including tissues important reach to mice in shown been has “GALNS BioMarin. of officer medical chief MD, Fuchs, new Henry said a world,” the around patients bringMorquio untreated to of number significant the to expertiseoption therapeutic regulatory and “Weplanleverageto ourclinical, manufacturing Elaprase MPS II Aldurazyme MPS I Treatment Therapies at 800.745.4447. at obtained be www.aldurazyme.comGenzyme contacting by or can information Additional responsibilities to Genzyme. BioMarin,worldwidemarketingtoandandsales assigns commercial manufacturing and thatresponsibilities agreement venture joint BioMarin a under Genzyme by developed was Aldurazyme disease. the of manifestationsnon-neurological confirmedwitha treat diagnosistheto I, MPS of patients in (ERT) therapy replacement enzyme long-term for Union European the of countries 15 in and States United the in approved been TM is a long-term ER long-term a is ® amnsee oc-eky has once-weekly, administered , T for patients with patients for T

r y otcig OnePath contacting at by obtained or be www.shire.com can information Additional sufficient quantities. that Hunter syndrome patients fail to produce in as weekly infusions to replace the missing enzyme given is and TKT), (formerly Therapies Genetic I. diinl nomto cn e on at found be www.morquioBMRN.com can information Additional III. will program MorCAP improve a patient’s the chances of being in the phase in Being centers. many from patients 50–100 include might that for study controlled placebo situation double-blind III phase a have disease to expect they the Finally globally. patients evaluate will and countries many in centers 15 about involve thatwill MorCAP or Morquio Program a Assessment conductingClinical be will also BioMarin dose of GALNS for future studies. pharmacokinetics, optimal safety, the identify to evaluate and pharmacodynamics to be will study I/II phase the of objectives The intervals. dosing 12-week consecutive three in BMN-110 pending additional holddata. on put been has syndrome, Sly also as known VII, MPS for trial clinical therapy gene A MPS VII n Pyiin upr a 869660 or 866.906.6100 at [email protected]. Support Physician and For more information, contact BioMarin Patient and stair-climbing capacity. walking improve Inc., to shown been has Naglazyme Pharmaceutical, BioMarin by and and produced Developed States countries. United European the many in in use for been has approved and VI MPS of diagnosis confirmed a with individuals for ERT the is Naglazyme™ MPS VI access, and MPSII. product insurance, Elaprase about education and centers treatment provides with OnePath assistance 866.888.0660. at toll-free for developing place treatment options for ML II/III. in programs no are currently There ML II/III . SM

Volunteers have been very instrumental in making the Society what it is today. Volunteer Spotlight 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, the support of this organization and their family tell us something about them. that it inspired us to try an event ourselves. We held our first walk/run in 2003, then followed We have two boys who were diagnosed with with others in 2004 and 2005. They were very MPS I: Sean, 17, and Cody, 15. We also have successful and extremely personally rewarding. a daughter, Amber, 12. Amber is a carrier, Our children were able to participate and invite but is not affected. Sean will be a junior in their friends, which gave them such a boost high school this coming year and loves music after struggling so much from the reality of the (anything country), concerts, cars, and has been disease. Every year we gained more support a manager for several sports teams including and more funds. It was very rewarding knowing cross-country, basketball and baseball. Cody will this was all going to directly support the Society be a sophomore and spends most of his hours and many other families that we were getting to drawing detailed pictures of dragons. He hopes know so very well. Then, for a change of pace, to become a cartoonist/graphic artist. He also we decided to sponsor our first “Trivia Night” in loves Spyro the Dragon video games…he has honor of Sean and Cody at our local church. It conquered every game system out there! 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 Amber, Sean and Cody Merrell is what finally led him to send us to the genetic specialist at St. Louis Children’s Hospital. beat out all three years of the walk/run and our What volunteer activities have you community loved this event! It was very successful, done for the Society? How long and everyone got to relax, enjoy and learn more after you joined did you begin about MPS in between rounds. Sean was able to volunteering? give his first ever public speech, which ended with a very moving standing ovation--memories Becoming members in 2000, we began searching that he will never forget. for answers, grasping for an understanding of this disease. We soon found out we lived very close What do you gain from your to another family with an MPS diagnosis, Brian volunteer efforts? and Kris Klenke, and their children Kraig and It gives our family a way to keep our minds Chelsey. Kris is our current vice president. They from the negative, and focus on the fact invited us to a walk/run they were sponsoring in that advocating and giving back are not only early 2001. We were so touched by the passion satisfying, but necessary. When you keep yourself and love that was shown by their community for busy with helping others, you find that you get

49 continued Volunteer Spotlight 50 that even in our “off” years, you can still support still can you years, “off” our in even that found have We them. for not maybe is and challenge that years, the over people many seen have We everyone. for be not may Fundraisers about volunteeringfortheSociety? What wouldyoulikeotherstoknow wonderful! donate may not have much, but they give. It to is absolutely love (who that businesses small-town retirees goodies), homemade fun!), of are lot really a (they Teenagers places. refreshing and unexpected most the of some from come volunteers the and hearts, our to close so is that cause a for together come community a watch to inspiring been has It more! times three back Eric andVicki Merrell in years. recently from Destin, FL, our first family vacation returned just as we and park, the well at time spending as family a as movies the We to Society. going the love for directors of board the on oneterm Family SupportCommitteeandserved time volunteering on the Legislative Committee, spent have also We DC. Washington, in 1441) support for The Ryan Dant Healthcare Act (H.R. gathering in Dant Mark assisting are currently we teacher,and school Sunday and school bible in our church, Eric as an elder, a both as a vacation for insurance representative. We tech are both very active manufacturing a pharmaceutical company and Vicki is a part-time as works Eric Tell us about yourself and your family. immeasurable. is it for all it doing are you those of faces the on you smiles the when and benefits the see and event around look your of day the of end the at together,all it but put and commitments for ask help, for ask organize, you when work hard is It lives. our in experiences rewarding most the of one is It it! use is, suit strong your Whatever out. helping and there being by just families other New NAGLAZYME.com Web Site Up and Running Resources | Helpful Information 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)

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 52 the DepartmentofEducation. copy of their states rules and regulation through for your child. I door encourage all the parents to obtain unlock a will that key the is This child. your for mean laws education special the what the law, and do not rely on anyone else to tell you governing special education. Read the law, learn rules and regulations, laws, the of knowledge is in effective being educators special and regular with collaborating for foundation basic The your childastheyenterschoolthisfall. assist The help to learn. offered are to suggestions following order is in curriculum “regular” services the than more requiring children with many parents educational for frustrating often and overwhelming for Advocating educational services. is which of one child, their for Families services of range of conditions. population wide a chronic monitor and identify,coordinate, obtain, general with the children from developmentally often disabled and fragile their are medically skill who of children differentiates level demands care high the and their arise. ofconditions nature also continuous and uncertainty complex feelingsThe and fear, (LSDs), anxiety, diseasesof storage lysosomal with families for true holds this although And supplies. and clothes shoes, new year…buying school new the for ready children your getting of excitement the again; year of time that is It “ By Advocating foryourChild’sEducationalNeeds dcto i te es rsrcie environment. restrictive least the in education that with a disability, the processes benefits of a free appropriate student each actual provide to order in follow four schools the first The reflect principles. principles six has IDEA The Education Act(IDEA) Individual withDisabilities University ofMinnesota can befoundatwww.curetheprocess.org. through education and changes in the process regulating disorders the rare development of very therapies. with Information patients of treatment the improving to dedicated is Foundation EveryLife Developed by Dr. Emil Kakkis, who discovered the enzyme replacement therapy for MPS I, the Kakkis Foundation Kakkis EveryLife to achild!” Succeeding inschoolisoneofthemosttherapeuticthingsthatcanhappen Kendra J.Bjoraker,PhD,LP

illness andtreatments areentitledbyfederal law life-threatening of trauma the experience toddlers who and Infants 0–3). (ages Intervention Early toddlers, and infants to services provide to or adaptive development. Also, a state may choose development, emotional or social development, opment, cognitive, devel development, physical communication areas: following the of more one or in qualify may 3–9) (ages Children early. services receiving begin also LSDs with Children 504, soparentsbeware. a under IEP an have children the do nor laws, these under children serving for incentive less is there so accommodations, 504 providing for money federal receive not does 504 Section Act. Rehabilitation the of 504 Section under eligible child will not be eligible under IDEA but may be is but It does not need special education services, the inattention). important to realize that if a child has a disability language, (orthopedic, syndrome Hunter symptoms the and it define would you of II), (MPS diagnosis a with have child you a if example, For the in setting. manifested educational is it how and what is knows disease the teacher, the including team, the that important is IEP.It the to added is this of child’s disease is clearly defined and a description their sure make to need parents meeting, (IEP) Program Education Individualized the During her educationalperformance. needed because the disease adversely affects his/ alertness, or are services related and education special where vitality limited strength, in resulting limited problem health acute or chronic a includes term The Impaired.” Health “Other Children with LSDs typically are classified under outthefirstfourprinciples. for carrying students can use to hold the schools accountable The last two are the procedures that parents and -

Resources | Helpful Information to early-intervention programs that try to head or neuropsychologists who know the child and off developmental delays. These services do not the child’s specific medical conditions. The depend on a family’s ability to pay. According IEP team can then include appropriate services to a child’s and family’s needs, the child may designed to extend current skills throughout receive physical and occupational therapy, the child’s enrollment in school, especially if speech therapy, and special instruction. The the disease results in negative progression and family may be entitled to family services, such cannot be fully corrected or stabilized. as training, counseling, or case management to Remember, because your child’s medical help coordinate services. status often changes, an IEP team meeting Home and Hospital Services can be requested more than once a year. The contents of an IEP should include: the present Because the treatment for some lysosomal levels of academic achievement and functional storage diseases can involve bone marrow performance, annual goals, educational transplantation, many children qualify for progress, and special education with related home and hospital educational services. Home services. Also included should be statements and hospital teaching is designed to provide of the special education and related services, instruction to public school students who are supplementary aids and services (based on peer- unable to attend a regular school program due reviewed research), program modifications to a physical or emotional condition which is or supports for school personnel, and finally, verified by a physician. Instructional services accommodations and alternate assessments. are available to all qualified students during convalescence or treatment time in a medical Accommodations, modifications, and alterna- institution or therapeutic treatment center, or tive assessments may be necessary for a special at the student’s place of residence. The length needs child to succeed at school. The terms of instruction for students in a full-day program accommodations and modification are frequently is six hours per week; however, parents should used interchangeably, but they are not identical know this time is not fixed and can be increased in their effect on teaching and learning and have through a team decision. important differences. Both terms are included in IDEA and are described below. Some children with LSDs also receive enzyme replacement therapy (ERT); therefore, missing Accommodations are defined as alternative ways school up to one day a week. In the state of for students to acquire information or share what Minnesota, there is a section in our rules and they have learned with you. Accommodations do regulations entitled “Care and Treatment.” not lower the difficulty level nor expectations Children receiving ERT qualify to receive direct for the student’s achievement, although there instruction at the facility in which they are may be changes in teaching materials used, receiving ERT or another agreed upon place. testing materials, or even in the instructional Parents need to check with their state regulations environment. Once these changes are made, to receive services for their child’s excessive the standards of achievement remain the same. absences due to medical treatment. For example, a child may be unable to read an Individualized Educational Program assigned textbook; therefore the accommodation (IEP) would permit the student to listen to a taped version. Once the student has heard the story, The IEP is not a “one-size-fits-all” program. however, he or she must take part in all required Individualized Educational Programs are unique testing and assigned work. Accommodations are when a child has a neurodegenerative disease. individualized to suit the student learning style For children with degenerative conditions, and developmental level. Other examples are the IEP may include related services such as highlighting, rehearsal, color coding, memory physical and occupational therapy or other joggers, visual cues, number lines, alphabet services to address the child’s needs in the areas strips, flip charts, organization/transition cards. of self-help, mobility, and communication. This Modifications are more intensive changes is to help maintain the child’s present level of to the difficulty level and/or the quantity of functioning for as long as possible so that the material to be learned. Modifications also may, child benefits from special education. The IEP in fact, change the way material is presented team is required to review a child’s existing and the nature of testing. Modifications create a health data which may include evaluations and different standard for children whose disabilities information from parents, medical professionals require more intense adjustments. An example

53 continued Resources | Helpful Information 54 n dctoa porm uig h summer the months (orbreaks). during program educational an significantly jeopardized if they are not provided by be will derived year school regular the benefits during child the the whether is issue The functioning. of level prior the regain to takes it time of in amount the interruption is Recoupment an education. from result can that skills and knowledge in decline a to refers Regression ESY oneofwhichisregressionandrecoupment. for eligible is child the if deciding in consider should team IEP the that factors IEP. six the are There on identified as developed has child are services the behaviors or ESY skills the maintain to provided school. summer (ESY). not Year is School This Extended for eligible be both are LSDs should many involved, cognitively and medically with children some Because visual, hearing,orlanguageimpairments. orthopedic, significant with LSDs with children in considered is technology Assistive device.” a surgically implanted, or the replacement of such is that disability,”device medical “a excludes but or improve functional capacities of a child with a less of its origin, that is used to increase, regard- maintain, item, “any includes technology Assistive a for used given gradelevelorsubject. normally than concepts or skill of area different a measure assessments Alternative an alternate assessment may be most appropriate. needs, special complex more with students For making onthedailyandlong-termbasis. decision- educational for guide a as serve they and program, educational child’s the for goals long-range become decisions modification Basic studied. be to words of number the reduces that of the modification may be seen in a spelling test •  •  •  inMeetings: Parent Participation special children withdisabilities. former of parent and a as a well as myself, teacher parents education being from have from years I professionals, the that over suggestions gathered are following The Parent Participation dct te em n Ss Ti wl give child’seducational program. your will plan to This information LSDs. more them on team the Educate he/she trulybelieveallchildren canlearn? Does principal. your of philosophy the Know prepared, and askforclarification. your factual, be allow interfere; to Don’t emotions positive. be team atmosphere effective an maintain and establish To

of lifeforyourchild. quality the improve ultimately and process this professional advocates that will assist you through knowledgeable many are there up; voice. give not her Do or with his becoming children means needs health care have special with child who a Having disabilities. families those to In closing I would like to extend encouragement •  •  •  •  After theMeeting: •  •  •  •  •  •  •  During theMeeting: •  •  •  •  ae ae f oref r o wl become will you or exhausted andburnout.Paceyourself. yourself of care Take did Isaykeepwrittenrecords. Keep written records, keep written records, oh, went that issues and unresolved. to, agreed what school of the understanding your Include letter. you thank brief a and happened what recollections about your of letter follow-up a Send files. your to conference the from documents Add Take ithomeandread it. unsure. if meeting the at IEP the sign not Do together afterwards. meeting don’t the process you can so and vulnerable advocate feel or friend a If front. take unified not a present and meeting attend the should parents both possible all at If happened! never it down, written not is it If notes. Take issues. important Prioritize negotiator. a be to Learn Stay ontask. issues, describe and problems, andoffersolutions. define questions, Ask will ultimatelymakethedecisions. Sit next to the administrator or the person who Write downquestionsandconcerns. disability affecthisorherabilitytolearn? term goals for your child, how does your child’s long- your are what year, this achieve to them want you do what weaknesses, their and are strengths What meeting. records. child’s the your to Review pertinent are that records Gather all your child’s medical and educational Dress professionally. Learn abouttestsandmeasurements. Resources | Helpful Information 55

left b right b Gina Stephenson 396 Floyd Fork Drive Shepherdsville, KY 40165 Shepherdsville, girl. b boy or b If 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 of the armpit to the bottom of the port Hunter disease e-clinic to learning of purpose the for specifically designed clinic, training virtual a is e-clinic disease Hunter diagnose and manage patients presenting with characteristic of rare genetic metabolic diseases. For . more information, visit www.sickkids.ca/lysosomalresearchgroup 5) Indicate which side the subclavian port is on. 5) Indicate which side the subclavian 4) Measure the circumference of the stomach (all the way around). ______inches 4) Measure the circumference of the 3) Measure the width from shoulder to shoulder using the back side. ______inches 3) Measure the width from shoulder 2) Measure from the top of the shoulder to the bottom of the abdomen. ______inches 2) Measure from the top of the shoulder 1) Measure from the clavicle to the bottom of the port. ______inches 1) Measure from the clavicle to the Please take the time to measure accurately. Telephone number (______) ______Telephone Address ______SIMPLE SHIRT ORDER FORM ORDER SIMPLE SHIRT Name ______Gina is donating 10 percent of the profitsquestions. with [email protected] or 502.641.1559 Simpleat Gina Contact Shirts Society. toMPS the National The Simple Shirt was created by Gina Stephenson, are shirts unisex The II). a (MPS Barkley Davis patient, her by inspired home was who infusion nurse measurements the on based made custom are and cotton, or fleece in available a perfectprovided ensuring fit. The Simple Shirt Is Simply Wonderful Shirt Simple The Wonderful Is Simply offers Shirt Simple the side, left or right the either for access port allowing By all ages. infusions for convenience during comfort and All shirts will be made from fleece unless 100% cotton is requested. Because shirts are custom made, custom are shirts Because requested. is cotton 100% unless fleece from made be will shirts All specific delivery dates cannot be given. Make checks payable and send to: = $35.00 plus $10.00 postage LARGE AND EXTRA LARGE SHIRTS = $30.00 plus $10.00 postage SMALL AND MEDIUM SHIRTS shipment. Checks must clear bank before 6)  8) Is this shirt for a 7) Measure the head circumference. ______inches 7) Measure the head circumference. Resources | Helpful Information 56 Send [email protected] ifyouneedyourmembersigninandpassword. already. Alsorememberthissectionisconstantlyupdated,sovisitoftenfornewsandupdates. so haven’tdone you Webif our site of section Member’sOnly the visit to minutes few a take Please before it is mailed, so if you can’t wait for the latest issue to arrive in your mailbox, stop by to read it. reports are just a few of the publications available for download. In addition, missing out! National MPSSocietyWeb siteyet?Ifnot,youare Have youvisitedtheMember’sOnlysectionof For programguidelinesand eligibilityrequirements,visittheUHCCFWeb siteatwww.uhccf.org. insurance plan. must meet economic guidelines, reside in the United States and be covered by a commercial health Families grant. a for eligible considered be will services healthcare for assistance financial of need Any child 16 years old or younger living in any UnitedHealthcare region of the United States and in and aids, hearing braces, wheelchairs, eyeglasses; andorthodontiadentaltreatments. as such equipment medical sessions; psycho-therapy therapy,and physical therapy, speech include grants UHCCF by covered services medical of of Examples types life. the of quality and for health children’s $5,000 their to improve up help of will that grants for services healthcare apply to eligible be will country the across caretakers and Parents by covered fully not services health insurance. medical for grants assistance with States United the across children of needs the meet to support offering is (UHCCF) Foundation Children’s UnitedHealthcare The to Offer MedicalAssistanceGrants UnitedHealthcare Children’s Foundation MPS Publications Information Contact Directory Membership Remembering Our Children Memorials MPS The Member’s Onlysiteoffers: just afewclicksofyourmouse. with changes theses of know Society the Youlet address. can e-mail or number phone address, new out abouttheirfriend’s passing. it is often several months after a child has passed that members receive their copy of MPS and related disease. This section was created at the request of our membership. Due to timing, computer, soyouwillalwayshaveitreadywhenwanttochatwithothermembers. address and can’t find your membership directory? Now you can download a copy and save it to your families can submit a memorial tribute and photo to be viewed online by other members of the of members other by online Society. Toviewed submitamemorial,contactLaurieTurnerbe [email protected]. to photo and tribute memorial a submit can families — A new section recently added by the Family Support Committee where Committee Support Family the by added recently section new A — — Past issues of — We know it is hard to remember to tell everyone when you have a have you when everyone tell to remember to hard is it Weknow — — Do you need to find another member’s phone number or number phone member’s another find to need you Do — — A memorial listing of those who have lost their battle with Courage, Angels Among Us, Guide to Special Events and annual Courage is usually posted Courage and find Resources | Helpful Information 57 www.mpssociety.org or by Limited range of motion and impaired dexterity •  • G-tube feeding • Wheelchair • Cerebral Palsy • Muscular Dystrophy • Developmental disabilities • Contractures needs • Toilet/changing • Catheters and colostomy bags • IV tubes • Rigidity Suitable for: 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 • Flat seams to reduce friction • Discrete adaptations so clothing looks normal stretchy fabrics • Easy access—snaps, Velcro, • Roomy seat to accommodate diapers (all ages) •  •  •  Featured adaptations: Featured for more information. Visit www.minimiracles.ca The clothing is made of the highest quality Peruvian cotton and has different options available for feeding tube access pocket, cut to fit diapers, etc.). different needs (e.g., gastro-intestinal Mini-Miracles clothing line consists of Victoria nurse items needs special chosen pediatric to owner, the meet that experience the and research basic the reflect needs They child. of the special needs needs children. Allen, has acquired working with special Mini-Miracles is an adaptive clothing line designed for the special needs child. Their philosophy is by community the to back giving while child, every for life of quality and comfort dignity, promote to donating to local Canadian charities. Mini-Miracles More information about Extraordinary Experiences can be found at The National MPS Society thanks you, Spencer, and everyone with MPS being and an related inspiration diseases to for many. Special thanks to BioMarin/Genzyme LLC to have an extraordinarywhich will allow special young adults experience. for this wonderful gift or 207.843.7040. at [email protected] contacting Laurie Turner Extraordinary Experiences was initiated in response to a grant the National MPS Society received from BioMarin/Genzyme LLC to honor Spencer Holland (MPS trailblazer for many individuals diagnosed with MPS. He and his sisters participated in clinical trials I). Spencer was a pioneer and for enzyme replacement therapy. They openly shared their life experiences which inspired other have a special place in our hearts. affected with MPS. Spencer will always children and adults This program was developed specificallyrelated diseases. Grants of up to for$1,000 are available for special camps, events, class trips and other individuals ages 14–24 diagnosedunique opportunities. The Society will with partner with MPS and the individual and cover registration his fees and travel or expenses, and her other fees associated family with his or to her extraordinary help experience. Have an Extraordinary an Have Experience Family newest the Experiences, Extraordinary introduce to pleased is Committee Support Family The Support program. Extraordinary Experiences was developed to help all of our unique and special own extraordinary to create their diagnosis or abilities, regardless of their children, experience. Resources | Helpful Information 58 available to patients. Visit services and references other and trials,clinical on-going diagnosis, disease, the on information valuable provides site This I. MPS on resources provide parents and topatients Genzyme with by developedinformation been and has site Web A www.MPSIdisease.com MPS IWeb site o hr wt fml mmes euaos and healthcare providers. educators members, family with share to information about MPS VI which may be helpful and education provides site This VI. MPS with for healthcare professionals who care for patients (Maroteaux-Lamy syndrome), their families, and VI MPS with individuals site, for especially designed Web BioMarin’s www.MPSVI.com MPS VIWeb site to update and expand the site on a regular basis. becomes available on the site. Shire HGT expects II MPS aboutinformation new as informedstay to ability the as well survey,asoutcomes patient professionals,information clinicalon trials anda healthcare and patients for resourcesincluding II, MPS of overview comprehensive a provides site Web the addition, In process.development informationdrug theasabout well as II, MPS of management and diagnosis, genetics, the about informationaccesscommunityto II MPS the for (Huntersyndrome). The site is aresource center Shire HGT educational Web site focuses on MPS II www.hunterpatients.com MPS IIWeb site for moreinformation. 17021 ext. 1.800.745.4447 call to physician your Ask world. the around from data aggregate to it your physician can access your data and compare understanding of MPS I. With the MPS I Registry, the improving to dedicated is that professional care health or physician your for available now is Genzyme by developed resource A rarity. its of because limited is disease the on information However, I. MPS providing with patients for to care best the critical is information to Access MPS IRegistry www.MPSIdisease.com is www.MPSVI.com, .

timely manner. Visitwww.Aldurazyme.com. a in query your to respond will who Genzyme at professional healthcare a reach to this mechanism anything use to free or Feel treatment. I to related to else MPS link regarding a questions includes ask site The Aldurazyme. on information with patients and parents provide to Genzyme by developed been has site Web A www.Aldurazyme.com Aldurazyme Discussions orMemberpage. the either on directory,register member the on details and forums discussion the all access To inheritance LSDs. specific about and information plus patterns, symptoms (LSDs), diseases has general information about lysosomal storage Website, GOLD The disease. to dedicated improving the lives organizations of all patients with a lysosomal commercial and of collaboration scientific international and medical associations, an patient groups is (GOLD) The Global Organization for Lysosomal Diseases www.goldinfo.org GOLD Web site community. VI MPS your with connect to free for Register MPS VIcommunityand: Log into the first Web site devoted entirely to the www.MPSVI.net Web site MPS VICommunity of thedrug. approval the supporting and effectiveness drug of IV,evidence MPS providing for treatments of development for critical is information history that updates be made at least yearly. This natural with MPS IV. Once registered, it is recommended child their register can families and register can is the Morquio registry where adults with MPS IV at found be can www.morquio.com. Also available at this Web IV site MPS about Information www.morquio.com MPS IVRegistry • Searchpostingsbytopic • Chatinrealtime • Tell yourstory • MeetotherpeoplewithMPSVI ® Web site www.goldinfo.org,

Resources | Helpful Information 59

Genzyme Treatment Treatment Genzyme I MPS Offers Support Insurance Families Counseling Genzyme Treatment Support confidential is service staffed by a professionals team of a care nurses, health other free and workers, social and confidential provide and advocates patient as act one-on-one insurance counseling to and their patients families. For more information, call 1.800.745.4447, Monday through Friday. Shire HGT Offers Offers HGT Shire Support II for MPS www.hunterpatients.com Shire Human Genetic Therapies OnePath support introduced center to the complex issues coverage, pertaining help to ERT, understand coding and reimbursement. OnePath, When you’ll you be assigned call manager a who personal will help case address any or questions concerns associated case managers with have access to ERT. many OnePath important resources; they also get to know you anticipate your and needs. can 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 “Guide comprehensive basic with Conditions,” Genetic Understanding to and language clear in genetics about information resources. online to links BioMarin has developed a free and confidential service designed insurance to questions. assist The and with Physician BioMarin Support healthcare Patient program help families (BPPS) evaluate their can current healthcare insurance coverage, provide potential healthcare insurance information options that may on insurance educate and state, your in available be companies about MPS VI. To contact patient a BPPS advocate, call their 1.866.906.6100. toll free number BioMarin Offers Help BioMarin Offers with Insurance Questions for MPS VI www.nahu.org/consumer/healthcare Underwriters Health of Association National The information provides that database a created has U.S. low-income for options insurance health on residents and people who change jobs or have pre-existing health problems. The Health Care Coverage Options Database provides a state-by- state list of public health insurance for low-income programs 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 health problems. those with pre-existing Health Care Health Care Options Coverage Drug Safety Information DrugSafety has www.fda.gov/cder/drugSafety.htm (FDA) Administration Drug and Food U.S. The that site provides to its Web a added new feature about information safety specific with consumers Specific Drug new The products. drug individual 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 issued about the drug. any past alerts 60 MPS Classifications age asmore cellsbecomedamagedbytheaccumulationofcellmaterials. with develop symptoms and signs birth, at apparent be not may disease the the heart, bones, joints, respiratory system and central nervous system. While body,including the throughout damage progressive cause may and properly perform not do cells result, a As body. the of of cell storage every virtually in the materials in resulting process, recycling proper the prevents enzyme in insufficient or missing the materials diseases, related and MPS with recycleindividuals In cells. and down break to enzymes uses body the Normally, body’sthe by caused diseases enzymes. producestorage specific to inability lysosomal genetic are diseases related and (MPS) Mucopolysaccharidoses ML II/III MPS IX MPS VII MPS VI MPS IVB MPS IVA MPS IIID MPS IIIC MPS IIIB MPS IIIA MPS II MPS I Syndrome polydystrophy I-Cell, Pseudo-Hurler Sly Maroteaux-Lamy Morquio B Morquio A Sanfilippo D Sanfilippo C Sanfilippo B Sanfilippo A Hunter Hurler-Scheie Hurler, Scheie, Eponym

phosphotransferase N-acetylglucosamine-1- Hyaluronidase b-Glucuronidase (arylsulfataseB) N-Acetylgalactosamine 4-sulfatase b Galactosidase Galactose 6-sulfatase N-Acetylglucosamine 6-sulfatase acetyltransferase Acetyl CoA:a-glycosaminide a-N-Acetylglucosaminidase Heparan N-sulfatase Iduronate sulfatase a-L-Iduronidase Enzyme Deficiency Board of DIRECTORS Ernie Dummann, president; Steve Holland, chair, STAFF chair, Legislative Committee Fundraising Committee Barbara Wedehase, Debbie Dummann Amy Holland executive director 6721 St Ives St. 1752 Hilltop Circle [email protected] Anchorage, AK 99504 Fort Worth, TX 76114 907.337.6014 817.625.6999 Terri Klein, [email protected] [email protected] development director MPS III parents MPS I H-S parents [email protected] Kristine Klenke, vice president; Austin Noll Laurie Turner, chair, Family Support Committee 3735 Redwood Circle program director 7604 Sherry Creek Road Palo Alto, CA 94306 [email protected] Worden, IL 62097 650.521.0089 Naureen Sayani, 618.888.2204 [email protected] office manager [email protected] MPS III parent [email protected] MPS II parent MaryEllen Pendleton Angela Guajardo, treasurer 56 E. Vinedo Lane SCIENTIFIC Luis Guajardo Tempe, AZ 85284 1815 Post Oak Road 480.831.2157 ADVISORY BOARD Edinburg, TX 78539 [email protected] Alessandra D’Azzo, Ph.D. 956.287.2887 MPS III aunt Gideon Bach, Ph.D. [email protected] Tami Slawson Lorne A. Clarke, M.D. MPS III parents 1342 Oak Mesa Drive Robert Desnick, M.D., Ph.D. Kim Frye, secretary; chair, LaVerne, CA 91750 Matthew Ellinwood, D.V.M., Ph.D. Education/Publicity Committee 909.593.1237 Louis Elsas, M.D. Stephen Frye [email protected] Mark Haskins, Ph.D., V.M.D. 3625 E. Thousand Oaks Blvd., MPS I parent STE 217 John Hopwood, Ph.D. Dr. Klane and Amy White Westlake Village, CA 91361 Laird Jackson, M.D. 3421 West Laurelhurst Drive, NE 818.263.7420 Seattle, WA 98105 Joseph Muenzer, M.D., Ph.D. [email protected] 206.523.2727 Elizabeth Neufeld, Ph.D. MPS II parents [email protected] Beth A. Pletcher, M.D. Steve Chesser MPS I parents Mark Sands, Ph.D. 4764 Candleberry Ave. Kim Whitecotton Edward Schuchman, Ph.D. Seal Beach, CA 90740 1413 Emigrant Way 562.594.7814 William Sly, M.D. Modesto, CA 95358 [email protected] Charles H. Vite, D.V.M. 209.544.2708 MPS II parent [email protected] Steven Walkley, D.V.M., Ph.D. Sharon Cochenour MPS II parent David Wenger, Ph.D. 273 Brown Chapel Road President Emerita Chester Whitley, M.D., Ph.D. Clarksburg, OH 43115 Marie Capobianco John H. Wolfe, Ph.D. 740.993.2753 Steve Holland Ed Wraith, M.D. [email protected] Mary Majure Couture MPS II parent Linda K. Shine Tom and Anne Gniazdowski 315 Meadowview Court Springboro, OH 45066 937.748.8809 [email protected] MPS II parents NON-PROFIT ORG. National MPS Society U.S. POSTAGE PO Box 14686 PAID Durham, NC 27709-4686 CHAPEL HILL, NC PERMIT #74