Volume 34 | Number 1 | Spring 2010 COURAGE

Magic Moments Outstanding Fundraising in MPS Society Have an at Disney World Member Awards Tough Economic Research Extraordinary Society celebrates Society Times: Program Experience 35th anniversary at recognizes those YES, it is possible! More than Family Support Disney conference who go above $3 million awarded program facilitates and beyond as in research grants unique opportunities volunteers in last decade 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...... 6–9 Diagnosis Making Headlines...... 9

Upcoming Events...... 10 Relationship

Disney Recap...... 11–15 Address Family News...... 16–17 City, State, ZIP Holiday Photos...... 18–19

Fundraising...... 20–30 Telephone

A Warm Welcome...... 31 E-mail Remembering Our Children...... 32 Family b $50.00 Volunteer Spotlight...... 33 Foreign b $80.00 Legislative Update...... 34–37 Professionals b $75.00 Standing Ovation...... 38–40 Corporate Memberships Available

Logo Order Form...... 41–42 Would you like your name to appear in our directory? b YES b NO Research News: Hope for the Future...... 43–51

Resources | Helpful Information...... 52–55 Would you like to receive Courage, the Society’s newsletter? b YES b NO MPS Classifications...... 56 Would you like our publications in Board of Directors...... 57 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 Danny, Wyatt, Braden (all MPS I) Blair (MPS III) and Roger Chapin Maria, Jocelyn and Angelica (all MPS IV) Jonathan (MPS III) with Ronald McDonald Clarke family (Mackenzie, MPS III) 1 As we move into spring I notice the The Society has collaborated several times in past days are getting longer. Deb and I are years to offer a partnership grant. Partnership brainstorming about some different grants are jointly funded by the Society and a ideas for our fundraiser this year. foundation (e.g., a family research foundation), Our MPS friends have done so many or advocacy group (e.g., International Society events with a wide appeal to their of Mannosidosis and Related Diseases). Our targeted friends and donors in their Society has received recognition and praise from communities. Events such as run/ the National Institutes of Health in Washington, walks, golf tournaments and dinner DC, for our outreach to these other foundations. parties are plentiful, but I love the Opportunities such as this ensure that our unique events that I had never thought research dollars allocated to a syndrome-specific of. Just imagine having a phantom run where no category (e.g., MPS I), and are not dormant for one runs, or a party where you make and receive a year as we await additional donations required donated hats that are auctioned off to the highest to fund a grant. It’s also a wonderful opportunity bidder. We also have bowl-a-thons, pool parties, for the MPS community to join together as we race car events, game nights, etc. There are so strive to meet our common goal to find the cures. many great ideas. The clock is ticking. As moms and dads we are desperate for cures Fundraising is a great and worthwhile experience. and will do anything to save our loved ones, However, just when you are finished, the real work however, without a process of checks and of the Society begins. After you do a fundraiser or balances, including a peer review process, your make a donation, you need to be sure the money Society might fund proposals that have little or

President’s Letter President’s is well spent for the purpose it was intended. If no hope of yielding good science to benefit all you are going to fund research you need to make who have MPS diseases. Looking around our certain the process protects your donors and the MPS community we see many opportunities to funds get to the best possible project with the contribute to research funding so we must be greatest chance for success. Your MPS Society has cautious and do so wisely. We as investors in MPS worked and improved the process over several research must always be careful. If a proposal years. Our funding strategies are recognized by seems too good to be true and offers hopes and third parties such as Charity Navigator which treatments where none of our expert scientists ranks nonprofits on their integrity and cost- believe there is merit, we probably should look at effectiveness of fundraising. Our policy dictates other opportunities. no more that 25 percent of a fundraiser may The MPS community worldwide is a small place. go toward the cost of fundraising. We also are We all need to stick together as one. Although recognized by the IRS as a 501c3 charity, so your Deb and I originally funded syndrome-specific donations may be tax deductible. research, we now choose to have our Scientific All of our funding research recommendations Advisory Board be the judge of what proposals come from our Scientific Advisory Board, are best and should be funded. Our Society comprised of the best and brightest investigators funds research that has the best chance to working on MPS cures and treatments, many for succeed and contribute to the MPS knowledge most of their professional lives. This group is base. Good research that has promise for one self-regulating, assuring those researchers who MPS syndrome today may indeed help another receive money do not judge or rate their own syndrome tomorrow. We know now that enzyme proposals. This peer review process allows the replacement therapies developed for MPS I years selection of the most worthy grants. Once the ago may soon start helping MPS III patients. As grant is funded the Society receives progress your board of directors would say, “Let’s not get reports and then disseminates the information splintered in our thinking. Instead, let us all come to the scientific community. The process ensures together to work on our real goal—to eradicate the most benefit for the dollars invested. This is all MPS diseases once and for all.” the course of action also used by the Canadian and U.K. MPS Societies.

2 Executive Director’s Letter 3 Farm Farm Resort in Los Angeles, such as sibling sessions, that many of you requested. In addition, prior to the family conference is Celebrating the Your Child’s Experience (CYCLE) conference, Life a one-day opportunity for bereaved families to join together our and then conference, attend if they the Finally, so a family choose. one-day conference for MPS and related diseases adults will be offered for the with first time, with a focus on independentissues. living Registration and scholarship for materials all three conferences will be mailed and be in April. site available on our Web It is important that we hear the work from we’re you doing about and how we meet can better your needs. Committee is The developing an Education/Publicity survey online addressing these issues member that will soon be e-mailed to you (this will be sent by regular mail to families without e-mail). Information from the survey will help us direction of the Society. determine the future Thank you for your support! As we begin the new we year, welcome two new board members, Jennifer Clarke and Gordon Cochenour Sharon to goodbye say and Wingate, and Steve Chesser. The firstfaces item in the the board new economic the that indicators are there year Although is setting the budget. climate is changing, the board continues with a conservative outlook. We grants wrote consistently Terri which to foundations heard the from in 2009 that their funding is down as much as 40 percent. Hopefully that will change. In the meantime, the tremendous support we received in 2009 from all our donors and families hosted who fundraisers means we can continue offer to the programs upon which families come to rely. have scholarships, education offering be again will We Experience Extraordinary grants, assistance family grants and conference scholarships. In addition to waiving dues for families, allowing everyone the opportunity to be members of our Society, we continue to offer a complimentary one-year membership to newly diagnosed research. to families. allocated is budget The our of part largest $400,000 In 2010 we will be awarding more than in research grants, some for the second year of grants awarded in 2009 and the remaining for new grants. National 24th the to segments new adding are We MPS Society Family Conference at BerryKnott’s It does not seem possible that programs’ funds may all be awarded when you it is already 2010. Last year was apply. If your family is interested in applying an exciting one for the Society, for the Family Assistance Program, I encourage concluding with a magical family you to start the process. We can not guarantee conference in December. It was that funds will be available by year’s end. Some wonderful to see so many old of our other programs are only funded once friends, and also to be able to meet a year, such as our college scholarships and so many of you who made Disney conference scholarships. Please make sure you 2009 your first conference. We return the completed application in advance of are working on making the 2010 the deadline. This is important to ensure you are family conference to be equally as amazing. We eligible for funding. Contact me directly if you hope to see you and your family in Los Angeles have any questions or need assistance. in September. For those of you wondering Please make sure you look over pages 18–19 to see about future conferences, we are excited to be the holiday photos we received. It is a wonderful heading to St. Louis in 2011. The Klenke and time to catch up with friends whom you have not Merrell families will guarantee we have another talked with in a while. We also would love to hear exceptional conference. how things are going for your family. Send in an As some of you are aware, the programs of the update and make sure you include some pictures Family Support Committee are very successful, to share with us in the next issue of Courage. We and as a result we run into the possibility of love to hear from you! depleting budgeted funds. While we wish we had an endless supply of money, we do not, and our

Thank you to members, families As we move forward in 2010, already new families and friends of the National MPS are making contact with the Society to host a Society for making 2009 a success! fundraising event in honor or in memory of a loved one with MPS. I look forward to each and Your efforts last year raised more every contact. Remember, the Society is here to than $280,000 for general research support you in your fundraising efforts. We have in our 2009 walk/run program. materials available to begin the planning process. Fundraising events, large and I have years of experience at hosting events myself, small, raised more than $183,000 and I look forward to helping you. for research, family assistance, scholarships and other supported International MPS Day is Saturday, May 15. If Society programs. your family would like to take the time to increase education and awareness about MPS, please call This edition of Courage includes a summary of our or e-mail me directly. I can be helpful with ideas annual conference presentation on fundraising. to increase your viewing platform. The topic presented was “Creative Fundraising in a Challenging Climate.” Our families gave 150 percent throughout the year by combining both awareness and education of MPS with their fundraising skills to reach success. Educating one person at a time about MPS and related diseases will lead us to find therapies and treatments for those suffering. Program | Development Directors’ Letters

4 Foster Blount Cynthia Hubert New Members Ooltewah, TN, father of Samuel Evan Blount, Fairmount, IL, grandmother of Livia Hubert, MPS III B MPS III A Justin and Stephanie Boyce Saima Hussain Beach Park, IL, parents of Brooklyn and Jayden Springfield, VA, sister of Shahzad Hussain, Boyce, MPS III A MPS II Elizabeth Braulin, MD Thomas Kesler Saint Paul, MN, professional Cherryville, NC, adult with MPS VI John and Julie Brooks Ned Kitfield Bettendorf, IA, grandparents of Jack Fowler, Cambridge, MA, Shire, professional MPS II Chuck and Nancy Lukondi Rick Buzo Irwin, PA, parents of Allison and Lacey Stockton, CA, father of Ricky Buzo Jr., MPS I Lukondi, MPS III D Jennifer Carter Antonia McKenna Stratham, NH, mother of Aidan Jack Carter, North Richland Hills, TX MPS II Patricia Mioduch Alicese Clinton Tacoma, WA, grandmother of John Thornton, Monroe, LA, mother of Kennedy Clinton, MPS III A MPS II Bob Prince Caroline Dabney Suwanee, GA, uncle of Jennifer and Savannah Cambridge, MA, Shire, professional Prince, MPS I Janice Dittmar Marcio Souza Huntington Beach, CA, great-grandmother of Cambridge, MA, Shire, professional Kaitlyn O’Donnell, MPS IV Patricia Stillwell Julie Durnen Berry, KY, mother of Curtis Gordon Stillwell, De Forest, WI MPS I Stephanie Musser Gilmore Tammy True Marion, OH, mother of Broderick Musser, Omaha, NE, mother of Kane True, MPS II MPS I Lauren and Edward Underwood Gordon and Ann Goodell San Diego, CA, parents of Cody and Kyle Alta, WY, parents of Max Goodell, MPS III A Underwood, MPS II Brad and Suzanne Gregory Ann Yeagle Louisville, MS, parents of Quinn Gregory, Dickinson, TX, aunt of Kaitlyn O’Donnell, MPS III A MPS IV Jennifer Houser San Fransisco, CA, aunt of Cecilia Bien, MPS III B

5 Matthew Cassil Karen and Livy Fish Robert and Kimberly Marsh Donations Rob and Diane Cassil* Jessica DeHaan Brenda Moustafa In Honor of Sam Caswell Kimberly Fowler Marilyn and Tom Sidley Mignon Babin* Steve and Cindy Hamblen* Carl and Mary Traina* Hugo and Marylyn Mel and Millie Anhalt Ross A. Lurgio Middle Jacquie and John Harrell Van Der Moer Roy and Janine Levitch School Jack Frye Jeffrey and Kimberly Watten Connor Anhalt T.J. Catanzarite Peter Cario Livia Hubert Mel and Millie Anhalt Anthony and Shirley Renee McFadden Patrick and Kristina Hubert Kay and Joel Levy* Catanzarite* Myrna Stelman Adam Wright Sara Smith Davis Barkley Luke Chambers Sydnee Jensen Amy Barkley DFW Premium Roofing Marcus Garvin Leonard and Linda Terrien Suzanne Hyman Blair Chapin Margaret Offutt* Roxanne Maffitt and Layne Fess Merlin Tracey* Isabel Jurado Bob Harvey* John Abernathy Bryce Chesser Spencer Gates The Barnett family Elizabeth and Michael Karen Patterson* Ryan Kape’s birthday Julie Whitted Burton* Kendra Gottsleben Danielle Arnone Lisa Bachman Cristol Barrett O’Loughlin Maurice and Jeanne Drew* Cochenour family Richard Dawson Tammy Ames Nancy and Bill Fountos* Jacqueline Graham Robert DeNight Mindy Creamer* Catherine and Doug Greg and Toni Graham* Kurt Doten Patricia DiLuzio Coltharp Cameron Green Maureen Loyola Patricia Giles Susan and Loy McKeithen Timothy Blackwell Jenny Mitchell Michelle Hirschfield Christy Stevens James Murphy Cori Lagao Amanda Crawford Lori Turturici Michelle Rasic Kenneth and Sandra Phillip, Emily and Debi Struzan Ledford* Allie Green Debbie Kappel Susan and Loy McKeithen John and Janet Kappel* Freeman Bauerle Matthew Crockett Ruth Bauerle* Billi Jo and Jeremy Crockett* Karina Guajardo’s birthday Beth Karas Ross and Belia Coddington* Melissa Lee Grace Bellontine Camden Crockett Grace for a Cure, Inc.* Billi Jo and Jeremy Crockett* Zach Haggett Allison Kirch Rena Oley Abigail Cohen Cecilia Bien Joseph Delaux Carol Sharpe Ann O’Malley* Jennifer and Rose Marie Jennifer and Rose Marie Houser Howard* Mary and Majdi Haroun Morgan Klessen An Tootill Lisa and Joel Klessen* Molly Birmingham Denmar and Ellen Dixon Patricia Baxendale* Susan and Loy McKeithen Cheyenne Hill Brittany Knapp Michael and Dawn Hill Marilyn and Tom Billington Francis and Sandra Eddie Ducham Robyn and Paul Young* Blanchfield Jean and Al Ducham Trey Lane Susan and Loy McKeithen Sean Dummann Holland family Steve Cuomo Nina Rogers* Michael Bodura Jr. Tilford and Dorothy Cobb* Madison Lewis James and Margret Myrick William Lowenburger Trent and Amy Dummann Wayne and Paige Lewis* Michelle Hopkins Edward and Jan Brown Ben Durcholz Marilyn and John Logan Helen Allison Susan and Loy McKeithen Kent and Nina Peters* Susan and Loy McKeithen Janet and John Arendt Matthew Caldwell Lindsey, Hannah and Kathleen Bailey Joseph Louison Marjorie and Robert Austin Karen Efird John Baird Mary Norton Mark and Stephanie Caldwell Debbie Allen* Mike DeLisle Olivia Lovell Lori Ledoux Mitchell Finzel Geraldine Faucett Susan Taylor* Aidan Carter Stacey and David Aronson* Robert and Donna Hopkins Jack Mahoney Megan Haydasz Laird Barber* Gordon and Nancy Kinley Ann Alden* Rod and Kathy Finzel* Patrick and Carol Kinsella

6 * Annual Fund donor Sarah Mallia Carly Ruhnke Bethlehem School Sunshine Cynthia Cochran Joseph and Catherine Rizzo* Carol Ruhnke* William and Nancy Brodie Kuni Paymaster, LLC Loy and Susan McKeithen Tiffany Sanders Warren and Mary Brown Rachel Stone Ward McKeithen* Rod Sanders Robert Brulhardt Jr. Edie Burke Helen Feingold Millicent Johns Noah Mehling Cara Sanford Robert and Elizabeth Foster Scott Booster Douglas and Lauren Sanford* Kirsten and Douglas Laraby Spyro George Harold McKeithen Jr. Sean and Cody Merrell Ambassador and Giles and Associates Beverly Nivens* Zion Lutheran Youth Group Mrs. Arthur Schechter Consultancy Mel and Millie Anhalt Ethel Greenblat Louis Butts IV Danny Miller Katie Castoro David Beatty* Tyler Seabrook Marie Griffin Ann Kelly Nancy Bucher Heritage Crest Condominium Ryan Christen Association Ferrara family Max and Toby Mingo Sasha Segal Teresa Judd Terry Tanner Sally Ball Linda Burtt* Raimund and Inge Kasner Elliott and Martin Cotkin Cade Mitchell Hannah Shannon Walfred and Sophie Kasner Kayla Cotkin* Anthony and Pamela Lorna Shannon Gail and Bob Kluge Kelly Crompton Paladino* Dorothy Lapnow Ian Smith Bob and Denise Crompton* Lucas Montgomery Sally Rullman* Benton and Dorothy Leach Gene and Cynthia Logan Doris Cutter Jason Leabman Jonathan Taylor Fredy and Christine Luscher Evelyn Suppo Payton Morley Ellis and Jeanette Taylor* Frances McCauley Kristy Knutson Scott and Greg Day Max Tilsner Erna Mlekusch Dan and Linda Day* Austin Nace David Tilsner Mary Policastro Rollie and Lena Harris* Jacqueline Fenaroli Ann Propper Shannon Tootill Tyler Kent Deskins Region 14 Paraprofessional Austin Noll IV Janet Rafferty* Helen and James Carr* Austin and Dorothy Noll* Christina Sciammas Association Harvey Rubin* Zach Durcholz Lawrence and Annette Pung* Sandra Webb Susan Schollin Kent and Nina Peters Kaitlyn O’Donnell Carl and Donna Rose* Scudder and Helen Smith Michael and Erin O’Donnell Marty Elliott Jr. Megan Weisenbach Dagmar Suhr* Ann and Martin Elliott* Henry Paris’ birthday Gerald and Mary Gilmartin James and Bonnie Tully Danny Gniazdowski Mel and Millie Anhalt Ellen and Peter Uram Matthew Wells Tom and Anne Gniazdowski* Branden Patterson Irene and Wilbur Erhardt* Kristofer Arnold Robert Martineau and Ralph and Jane Daniels* Claude and Roselyn Wells* L & A Contracting, Inc. Pamela Eddy* Paul Patterson Richard and Rebecca Kristofer Arnold’s William and Frances Woody* Wildman* Erin Peters 28th birthday Fran Greenberg Brian Engel* Sara Zimmerman Tony and Sherrie Roman Eileen Marchica* James and June Murphy David Zimmerman* Mignon Babin in honor of Sergio and Angela Stasi* Robert Grisham her grandson Sam Caswell Susan Ketchum* Kristen Reeve Donations David and Elizabeth Hosang Stella Reeve* David Hedrick McKenna Bailey Gary and Bonita Ritondaro* Mindy Rennaker In Memory of Steve and LaVonne Bonnie Hoegl Chip and Wendy Rennaker* Blechinger* Paul Adams John and Bonnie Hoegl Rennaker family Tommy Bennett Mariann Adams Spencer Holland Linda and Peter Johnson Julia Bradley Milton Adams Louise Reitan* Nathan Roma Mary Starr Adams Mark Bernbaum Kaylee Kacer Jonathan and Lisa Dols* Stuart and Karin Adams Paul and Leslie Karas* Russell and Kaydi Kacer* Pauline Aiken Richard Rotelli Carter Brotherton Sherri and Scott Baggett Amanda Keith Michael and Veronica Vacca* Herm Brocksmith Charles Bell George and Gail Anderson*

* Annual Fund donor continued 7 Ines Moreno Shauna Taylor Dakota’s Day golf fundraiser Donations Antonio Nobrega Ellis and Jeanette Taylor* by Clarence Chriss Halloween fundraiser by Priscilla Perreira Nancy Tucker In Memory of Mercedes Johnson in Olympia Pinto Thomas and Stacy Peters continued Virginia Pinto honor of Wynn and Dorian Johnson’s birthday Armando Portela Andrew Watkins Russell and Dougie Kennedy Klenke bowling fundraiser Joao Rebelo Geoffrey Bushko Millicent and Charles by Kris Klenke in honor of John Rodrigues Stephen and Juith Donnelley Kennedy* Alice Johnson Kraig Klenke Maria Rodrigues Lemonade stand fundraiser Joe and Maggie Langford Esther Ruocco Peter Wehrle by Bryn Chesser and Robert and Amy Farrell* Emilia Sapata Mark and Janene Bocchi Renee Congdon Audrey Lawson Manny Silva Paul and Kristin Wehrle* Macy’s Shop for a Cause Robert and Katie Lawson* Chris Rosseau Scott Whitecotton fundraiser by Kelly Hubert Patti Pair* Claire and Michael Chris Lewis in honor of Livia Grace Hubert Constantine* Glen Malina Alleis Wilson Mad Hatter Tea Party Barbara and George Malina* Sally Rowland Pam Kovach* fundraiser by Stephanie Brian McCoy Carey and Hickman Rowland* Jennifer Wingate Bozarth in honor of An- Paul and Catherine Latella Hannah Salcher Cheryl Guidry nabelle Bozarth MPS Dance Fest fundraiser by Christina Salcher William Rice Christopher Migliozzi Chelsea Montgomery in Paige and Joe Migliozzi* Douglas Sampson Michael Zechender honor of Lucas Montgomery Cade Morrissey Shelby and Tim Haslett* Kathryn Bullard Pumpkin Harvest fundraiser by Cynthia Anderson in Nicole Morrissey* Laura and Michael Sheekey Dottie Corbin* memory of David Hedrick Ron and Chris Morrissey Arthur and Marilyn Sheekey Raymond Zechender Rozann Sheppard Katie Shine Chris and Vance Myers Frank and Nancy Aiello* Matching Donations Donald Myers Patricia Harahan Josephina Abreu* Ryan O’Steen Thomas and Mary Shine Gifts AG Communications, LLC* Lawrence and Eileen Robyn and Paul Young* Abbott Laboratories Amicus Therapeutics O’Steen* Geoffrey Shurmantine Employee Giving Campaign Angel’s Hands Foundation Allstate Giving Campaign Brian Aquino Charles Page Sr. David and Lori Vorbeck Ameriprise Financial Christa Armstrong Mary Jo Page* Zachary Szemanski Employee Giving Campaign Leonard and Barbara Brianna Palzer Gail Finney Cargill Matching Gift Program Barcousky* Jeanne and Bruce Palzer* Theresa Szemanski Coviden Employee Matching Richard Barrett* Larry and Tracy Szemanski Gift Program Cheryl Bien* Jill Rennaker Zachary’s 22nd birthday and Genentech Givingstation Todd and Nicole Blancheri* Chip and Wendy Rennaker* David Blum Clinton’s 25th birthday Illinois Tool Works Foundation Diana Rodrigues Merck Partnership for Giving Diana and Tom Boland* (Szemanski) Serafina and William Allison Michael Burke Larry and Tracy Szemanski Maria Amador Janice Burns Helena Amouin Clinton and Zachary Fundraisers Central Rockies Schipperke Szemanski Club* Antonio Cabeleria Barnett birthday fundraiser Steve and Karole Chesser* Maria Cabeleria Mary Ellen Barringer* by Valerie Barnett in Kathleen Christopher Sergio and Fernanda Felix Lois Finney* honor of Steffany Barnett Donald and Michelle Clarke family golf tournament Odilia Flamengo Larry Szemanski in honor of Churchill* by Cindy Clarke in honor Antonio Gaspar his sons Clinton and Zachary Shawn Clennan of MacKenzie Clarke Maria Goja Mary Ellen Barringer Community Foundation of Cornhole toss tournament Joaquim Goncalves Iron City Constructors, Inc. Greater Memphis by Robb and Lisa Muller Anne Krulikawski John Killosky Robert and Laura Cowin* in honor of Riley Muller Seleste and Joao Lucas Jeffrey and Ann Schmucker Ron and Barbara Dengel* Gloria Maura Paul and June Snyder Western PA Finishing 8 Contractors Association * Annual Fund donor Ray Dettmer* Terry Kalna* Kay Rogers* Patricia Dickson* Gary Kirch* Suzanne and Robert Ruchti* Scott and Peggy Dionne* Larry and Susan Kirch* Al and Angela Sarantinos* Marjorie and Robert Carol Kuhn Mark Schlafer* Ditmore* Scott and Gabriella Lich* Peter and Catherine Schreiber Barbara Dodane* Robert and Marjorie Lovell* Mohammad Shawar* Robert Doerr James and Eleanor McCaffrey* Robert and Cheryl Slowey* Phillip and Donna Dudley Arthur and Joann McLendon Mike and Barbara Smith Ernie and Debbie Dummann* Douglas McLeod* Robert and Susan Steiner* Trent and Amy Dummann* Raymond and Amanda Tracey Sullivan Darla Elswick* McPartlin* Becky Tanamachi* Employees Community Fund Richard and Eva Morgan* Leonard and Linda Terrien* of Boeing California Gary Mortensen* The Caterina Marcus Federated Church Shepherd Anne Novak* Foundation Fund Sharon O’Connell* Tilsner Pool Tool, Inc. Patrick Ferreri William Parkerson Juanita Todd* Edward and Maureen Flynn* Thomas and Vickie Patterson Anita Tomren* Janet Forde* Mark and MaryEllen Toms River Intermediate Stephen and Betsey Fowler Pendleton* School East Anna Funkhouser* Personal Assistance Services David and An Tootill* Eileen Gideon* of Colorado Richard Underwood and Joyce Hagosky Andy Ramelmeier Jean Jacobsen* Connie and John Held Tina Ratto USA Couriers* Carole Hopey Karen Ratto* Dale and Carol Walker John and Yvette Iannelli Bernard Ray* John Weaver Roberta Jenkins* Paul and Lilianne Rivera John and Ellen Williams* John and Bonnie Kachmar Gerald Roark* Elaine and Hubert Willman* Emil Kakkis and Shawna Robson* Jenny Soriano Barry Rodgers * Annual Fund donor

Making Headlines

One of the goals of the National MPS Society is to increase awareness of MPS diseases. With the assistance and persistence of our members, we are making great strides. Don’t forget to let the MPS Society know when you are featured in a media story!

Serena and Autumn Cooper (MPS I) were recently featured by KUSI News, San Diego, when the Make-A-Wish foundation gave the sisters a bedroom makeover and backyard playset. To see the video, go to www.kusi.com/features/seasonofwishes/80392407.html.

9 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.

National MPS Society’s 2010 Family Conference Plans are under way for the Society’s 2010 family conference to be held Thursday, Sept. 30, through Saturday, Oct. 2, 2010, at Knott’s Berry Farm Resort Hotel in Los Angeles, CA. In addition to presentations from leading researchers and clinicians, interactive workshops will focus on topics our members have requested. Two additional conferences will be held prior to Upcoming Events Upcoming the family conference: Celebrating Your Child’s Life Experience (CYCLE) for bereaved families, and Independent Living for Adults with MPS and Related Diseases. Information and registration materials will be sent to members soon and posted on our Web site, www.mpssociety.org. Mark your calendars now!

MPS I, MPS II and MPS III added to Social Security’s Compassionate Allowances Program Social Security Commissioner Michael Astrue announced on Feb. 11 the expansion of Social Security’s Compassionate Allowances program, which provides expedited review of disability applications from people with severely disabling conditions.

The National MPS Society is pleased to inform you that MPS I, MPS II and MPS III are now included in the Compassionate Allowances Program along with 37 other conditions which will become effective March 1, 2010. The program, launched under Mr. Astrue’s leadership in 2008, began with a list of 50 diseases, including 25 rare diseases and 25 cancers. This is the first expansion of the disease list.

The Social Security Administration (SSA) selected the newly added 38 conditions from those recommended during public hearings and a process of information-gathering.

In 2007 the National MPS Society was invited by Michael Astrue to participate in the public hearings. Sissi Langford, parent of two MPS children, gave public testimony expressing the need for this service for all who are affected with MPS diseases. In May of 2009, Ernie Dummann and Barbara Wedehase met with Nancy Schoenberg, acting program director of the SSA Compassionate Allowances Program, and provided input regarding MPS and related diseases. The National MPS Society’s Legislative Committee is committed to continue working with SSA administration to ensure that all MPS and related diseases are included in the Compassionate Allowances Program.

For more information go to www.socialsecurity.gov/compassionateallowances.

10 National MPS Society Marks 35th Anniversary Disney Recap with Magic Moments from Disney World Annual family conference at Disney World shares information, strengthens relationships

MPS families from around the world came together Dec. 17–20 at Walt Disney World’s Coronado Springs Resort to attend the annual family conference and to celebrate the Society’s 35th anniversary. More than 650 attendees took advantage of this wonderful opportunity to build new and strengthen existing MPS friendships, and to hear insightful information on a wide range of MPS-related topics from leading researchers.

Thanks to Roger Chapin, there were Disney characters on hand Thursday evening to kick off the event. Great photo opportunities, musical entertainment by West Steiner, balloon hats, face painting, and anniversary cake and cupcakes with the Society’s signature purple frosting rounded out the celebration. Ryan and Erica Manthy from Pure 7 Studios in Destin, FL, photographed families, giving each family a commemorative Disney photo.

During the syndrome breakout sessions families became reacquainted and met many new families attending the conference. Terri Walden and her volunteers entertained the children during these sessions in childcare with Disney movies, a visit from therapeutic dogs and a fun activity making pillows. Susan Chapin arranged for childcare volunteers and entertainment on Friday, including a visit from the Orlando Magic Basketball “Stuff” mascot; Kyle the DJ, courtesy of the Kefauver family; clowns, courtesy of the Fess family; Ronald McDonald, courtesy of Ronald McDonald House; and storyteller Tom and Mr. Richard, singing children’s songs.

The conference ended with a moving remembrance ceremony with music provided by West Steiner and a prayer by Guy Walden while everyone blew bubbles. Families had the weekend to explore the Disney parks.

The conference centered around informative presentations given by experts. Following is a recap of these presentations.

Overview and Management available to families interested in hosting a fundraiser. MPS parents Lantham family Joseph Muenzer, MD, PhD, professor of Stephanie Bozarth, Steve and Jennifer Pediatrics, University of North Carolina at Clarke, and Eric and Vicki Merrell Chapel Hill, discussed each MPS disorder, along discussed their events, providing with the clinical features presented, diagnosis inspirational ideas based on their and management issues highlighted for each experiences. disorder. Policy with Partners Management Issues Austin Noll, member of the National Dr. Muenzer also conducted an interactive session MPS Society Legislative Committee that allowed patients and parents to present and board of directors, focused on the challenging clinical problems, such as “when to Society’s political efforts, including shunt for hydrocephalus” and “when should a what the Legislative Committee does feeding tube be placed,” followed by discussions to effect changes in federal policy Clarke family on ways of managing these problems. and to increase National Institutes of Creative Fundraising Health funding for MPS and other in a Challenging Climate lysosomal diseases. Treatment and Research Updates National MPS Society Fundraising Committee Chair Steve Holland, along with Terri Klein, Mark Sands, PhD, Washington University, Division development director, illustrated the support of Bone Marrow Transplantation and Stem Cell 11 continued Biology, St. Louis, MO, discussed how research been performed in children with MPS, this type into the MPS disorders has progressed rapidly of clinical trial has been performed in children over the last decade. There are now a number with a related disease (Infantile Batten disease). of protein-, small molecule-, cell- and gene-based A brain-directed gene therapy clinical trial for therapies that have demonstrated efficacy in both MPS III B is scheduled to start in Europe in small and large animal models of MPS. Research the spring of 2010. A hematopoietic-directed on protein-based therapies, more commonly gene therapy clinical trial recently was referred to as enzyme replacement therapy performed in children with a related disease Disney Recap (ERT), is progressing. Not only are additional (Adrenoleukodystrophy). forms of MPS being examined as targets for ERT but different routes of administration Adolescence and MPS also are being tested. In addition, the enzymes Kendra J. Bjoraker, PhD, LP, Division of Pediatric themselves are being modified to Clinical Neuroscience, University of Minnesota target different tissues including Medical School, explained that due to medical bone and brain. Small molecule advances, more adolescents are leading drugs are being developed that can productive lives despite experiencing a rare either stabilize or simply increase disorder. Many face complex cognitive, physical, expression of enzymes with specific and psychological challenges during adolescence mutations. Other small molecule and during the transition into adulthood. Given drugs are being developed that the variability and broad spectrum of clinical can decrease production of the symptoms within MPS disorders, this presentation molecules that accumulate and addressed general issues that adolescents with thereby slow the progression of the MPS may experience during this developmental disease. A number of cell-based period. Issues such as developing independence, therapies are being explored using Dorothy Mask and Tyler Sowden (MPS III) transition from adolescence to adulthood, different sources of stem cells body image issues and emotional/psychological such as hematopoietic, neuronal issues. The presentation provided a better and mesenchymal. Gene therapy understanding of adolescents with a diagnosis of strategies also are being developed MPS, offered recommendations, and generated and modified to increase the level a discussion by parents and adolescents about and distribution of the deficient which determinants of quality of life warrant enzymes. This is being accomplished further educational support and clinical research. by modifying the gene transfer vectors and the enzymes that are Living with Loss expressed from the vectors. Michael Campbell, PhD, LCSW, Nemours Recent studies also are showing that Children’s Clinic, Orlando, FL, led an interactive combining these novel therapies that discussion on grief and loss and ways families can target different aspects of disease cope with loss. Dr. Campbell began the discussion Terri Klein and Kraig Klenke (MPS II) can greatly increase the efficacy of by pointing out that MPS impacts the typical any single therapeutic approach. development for families and their children. Virtually all of the approaches above MPS families do not follow the normal stages of are being used clinically either as development that other families follow, which FDA-approved drugs (ERT) or in often leads to uncertainty, fear and isolation. clinical trials in MPS or closely related The normal stages of family development are: disorders. ERT is already available young adult/newly married, birth of first child, for several of the MPS disorders transition years, empty nest and widowhood. and is being tested in several others. MPS alters these normal stages forcing families to Small molecule drugs that target create their own path to follow. Families dealing different aspects of disease (protein with MPS and other life-threatening illnesses must instability, premature stop signals, adapt to their situation and seek the support of substrate reduction, etc.) also are in family and friends who embrace their situation. clinical trials for several disorders. Parents shared their stories with one another. Although brain-directed, neuronal There was both laughter and tears. Karina (MPS III) and Anyssa Guajardo stem cell-based therapies have not

12 continued Connecting with other MPS families who share Reproductive Issues Disney Recap the same challenges provides families with a network of support they may not otherwise Stacie Rosenthal, MS, CGC, began her presentation have available. The MPS family conferences, by explaining that chromosomes are like chapters CYCLE conferences, regional social gatherings, in a book, and genes are like sentences in a fundraising events, and the MPS forum all offer chapter. Mutations are like misspelled words opportunities for MPS families to connect and or the disruption of a sentence; there are form lifelong bonds with other families facing the all different kinds of mutations. Genes are same daily struggles. our body’s blueprint and instructions. They produce proteins that determine how we grow, Palliative Care develop and function chemically. Humans have approximately 25,000–30,000 genes, which always Harriet Miller, PhD, ARNP, Advanced Practice come in pairs—one from the mother Nursing and Research, Orlando Health, and one from the father. These discussed why palliative is sometimes referred to genes are made of DNA. as “comfort care,” designed to provide supportive and dignified care for your child and family. The With the exception of MPS II which focus of care has shifted away from intensive is an X-linked inherited disease, efforts to cure, to intensive efforts to provide all MPS diseases are autosomal comfort and relief from suffering. In some cases recessive. Although both parents are it may help you to plan for a peaceful and natural carriers of the defective gene, the death for your child. What you can do for your one normal copy of the gene allows child and support were discussed. the carrier parents to be symptom free. Dr. Miller began her session explaining that palliative care teams are fairly new. Hospitals may Any child born of carrier parents has Teagan Pevler (MPS I) have had a palliative care nurse or hospice, but a three in four chance of having at palliative care teams that are patient focused and least one normal gene and therefore family centered have only been developed within no disease. Each child also has a one the last five years. A child who has been diagnosed in four chance of inheriting the with a serious illness or life-threatening disease defective gene from both parents can begin receiving assistance from the palliative and being affected with an MPS care team as early as diagnosis, regardless of their disease. There is a two in three life expectancy. The goal of this team is to assist chance unaffected brothers and the family in providing the best quality of life sisters will be carriers of the gene. possible for your child, and to provide complete physical, emotional, social and spiritual support Ms. Rosenthal explained that MPS for the entire family to enhance their capacity to II is an X-linked inheritance. That cope with the life-threatening condition. is, the mutated gene is located on the X chromosome. Males are most To obtain this goal the palliative care team will: commonly affected; females are Luke (MPS III) and Juan Valdez rarely affected but may be carriers • work closely with you and your child’s of the gene. Females who carry the primary care team to develop a treatment/ gene have a 50 percent chance of care plan that best fits your family’s desires passing the gene to their sons with and assist you in implementing the plan. each pregnancy. If an affected male • assist you in obtaining services through your has children, ALL of his daughters healthcare provider. are obligate carriers and none of his sons will be carriers or affected. • assist families in locating resources in their own community. It was explained that DNA testing looks for the specific mutations • provide the family with counseling services. that cause the gene to not function correctly, while enzyme testing • help families transition to hospice care. measures the amount of enzyme Maddy (MPS I) and Craig Wigglesworth • advise families about bereavement being made. DNA analysis is the resources when appropriate. preferred method for prenatal 13 continued testing due to its accuracy. It is important to have DNA analysis done on the affected individual as it can be very useful for other family members. Ideally DNA analysis should be done prior to pregnancy.

Initial DNA testing may take four to six weeks and can cost $900–$4,000. Insurance may or may not

Disney Recap cover DNA analysis and in most cases Medicaid is not accepted by specialty labs doing this testing. Other reproductive options include sperm/egg donation from a non-carrier family member or from a bank, adoption and DNA banking. Austin and Austin IV (MPS III) Noll There are three types of prenatal diagnosis:

• Chorionic Villus Sampling during the first trimester, involves inserting a small catheter to obtain placental tissue to do DNA analysis. Risks include a 1 to 1½ percent chance of pregnancy loss and infections.

• Amniocentesis, performed during the second trimester is done by removing a small amount of amniotic fluid. It provides diagnosis of chromosome abnormality or genetic conditions.

• Pre-implantation genetic diagnosis (PMGD) Olivia, Emma and Julia (MPS III) Dopheide tests a fertilized egg for a genetic condition, and only unaffected embryos are then implanted into the uterus.

PMGD requires knowledge of the mutation causing MPS and in vitro fertilization (IVF) must be used. The cost is $7,000–$20,000 for IVF and $5,000–$10,000 for pre-implantation testing; usually not covered by insurance.

Multiple cycles may be needed to get pregnant; there is a 40–50 percent chance of getting pregnant with each cycle depending on maternal age. Prenatal diagnosis by CVS or amniocentesis is recommended. Amber, Eric and Sean (MPS I) Merrell

Ms. Rosenthal also discussed ethics regarding these procedures, such as storage of “extra” unaffected blastocysts and discarding of affected embryos.

14 Jennifer (MPS I) and Jill (MPS I) Underwood Disney Recap

15 and Ernie Dummann Anne and Tom Gniazdowski Anne and Tom Steve Chesser and Ernie Dummann Barbara Wedehase and Christine Lavery Barbara Wedehase Debbie Dummann, Eric and Vicki Merrell, Merrell, and Vicki Debbie Dummann, Eric Lifetime Achievement Award Achievement Lifetime Society MPS U.K. Lavery, Christine Friendraising Award Friendraising Restemayer Allison Browne Sharon Formica Jonathan Sept. 30–Oct. 2, 2010 Knott’s Berry Farm, Los Angeles, CA Knott’s Don’t miss the next MPS Society family conference! Don’t Denise Dengel Denise Merrell Vicki and Eric President’s Awards President’s Debra Dummann Debra family Montgomery Restemayer Jennifer Wojnarowski Rachel and Matt Directors’ Awards Directors’ Outstanding Member Outstanding Chesser Steve Gniazdowski Anne and Tom A A special thanks to everyone whose support and contributions help to strengthen mission. our of goals the meet and Society our The Friendraising Award recognizes individuals who make significant contributions contributions significant make who individuals recognizes Award Friendraising The given are Awards Presidential a fundraiser. or MPS hosting about awareness raising the to commitment unwavering recipients the of because president Society’s the by members. its and Society The The Outstanding Members are selected by the Society’s president for “devotion of time and expertise and valuable contributions to the Recipients National MPS of Society.” the Directors’ Awards are was award Achievement selected a Lifetime In addition, of and expertise.” time recognition by the board of directors “in presented to Christine Lavery of the U.K. MPS Society for her work managing a unique U.K.-wide advocacy service, supporting the needs of more than 1,200 MPS new to access needs, education special adaptations, home of area the in individuals support. post-bereavement and pre- and care, palliative care, respite therapies, National MPS Society Recognizes Outstanding Members Outstanding Recognizes Society MPS National of members MPS the Each year banquet, National awards at the conference family Society who go above and beyond as volunteers are recognized. This group shows visionary flairin suggesting and implementing new programs, unflagging energy hours of providing service, volunteer with and and enthusiasm warmth interacting members. Teagan was chosen to represent our local hospital and the addition they are building this coming year. Teagan has been a big part of the Children’s Miracle Network, helping to raise money for this great local cause. She has participated in a local network telethon and will be featured in the upcoming radiothon. Just recently they put her picture on a billboard here in our town. Stacey Pevler Teagan Pevler (MPS I) Family News

YOU ARE IMPORTANT TO US, PLEASE KEEP IN TOUCH. Please remember to let the Society know if you are moving. In addition Montgomery family Rachel Longston (MPS III) to helping keep printing and postage costs down, you’ll help us keep our database up-to-date. Keep us informed of new addresses, telephone numbers, e-mail addresses, and any interesting news about your child.

Zach Murphy (MPS II) Trey Lane (MPS IV) Kane True (MPS II)

16 Family News

Teagan Pevler (MPS I) Marie, Jonathan and Ryan (MPS II) Hunt visit the Society’s office.

Urbana ’09 was an amazing international conference I was able to attend thanks to the MPS Extraordinary Experience Scholarship Award. More than 17,000 college students representing 79 nations attended this five-day convention, held in St. Louis, MO. It was an incredible experience. This conference is run by an organization I am involved with at my college called InterVarsity Christian Fellowship (IVCF). IVCF seeks to reach college-aged students with the story of Jesus and how he can impact your life. As I went to this conference I didn’t exactly know what to expect. When I arrived I met and shared stories with people from all over the world. I was able to share with other students the struggles I go through as a disabled person, but yet still I’m able to live life fully and happily. The main focus of the conference was reaching people in poverty and learning how to love and help people around you. They talked about how, in the college atmosphere, the community that one experiences is unlike any you will most likely experience again. It was cool to think about the opportunities I have for friendships and relationships right now, and how I can better serve and love the people I know. I learned so much while I was there and it has encouraged me to get more involved at my university. I have tried and succeeded at managing my time better which has given me more time to invest in relationships with other students. This has given me so much joy this new semester. Urbana taught me these things, and I am so grateful to the MPS Society for aiding me in this John Scott (MPS IV) trip. I would like to encourage other students who have an MPS disorder to also apply for the Extraordinary Experience scholarship and go to a camp, conference or convention that will help them live life more fully.

I would like to share an idea I had for an MPS awareness raiser. Starbucks sells insulated coffee mugs ($10) that you can make and print your own collage at Snapfish (FREE) to fit inside. Mine says, “Ask Me About MPS” and of course I take it everywhere. Being a student nurse I have so many doctors and other healthcare professionals asking me about MPS! Donna Kay Langan, mother of Tyler (MPS III)

Tyler’s MPS coffee mug 17 18 Chet, Luke(MPSI)andBethanyChambers Loren McClelland(MPSI) Holiday Photos Annabelle (MPSIV)andMadelineBozarth Allison (MPSIII)andHelenKirch Jim, CristolandChloe O’Loughlin Ella, Mackenzie (MPS III) and Zachary Clarke Paul, Laurie,JackandClay(MPSII)Howard Jacob (MPSIII)andSydneyBailey Carter andMakenzie Bays Eddie Ducham(MPSI) Will andJohnCowin(MPSII) Jenna andSam(MPSI)Caswell Ethan andClara(MPSIII)Gibson Maria, JayandDanny(MPSI)Latham Elizabeth Dean Bob, Pam,Jonathan (MPSI)and Opal Dummann Holiday Photos 19 Mason Whittle (MPS III) Chris, Mercedes, Ben, Alex, Dorian (ML II) Chris, Mercedes, and Wynn (ML II) Johnson Jensen Sydnee (MPS I) and Andrew Robb, Trish,

Jake (MPS II), Natalie and Nicole Hampton Wojnarowski family (MPS III) Wojnarowski Sherri, Josh, Tyler and Ethan Ethan and Tyler Josh, Sherri, Sowden III) (MPS Andrea, Chris, Zach and Rachel (MPS III) Andrea, Longston Waverly (MPS III) and Oliver (MPS III) McNeil III) (MPS Oliver and III) (MPS Waverly Tom, Stacy, Erin (MPS III), Kelly and Stacy, Tom, Ben Peters Lou and William Slavik (MPS II) Ashley and Allison (MPS I) Restemeyer Danny (MPS II) and Haley Miller Logan Piefer (MPS II) Tom, Theresa, Kayla, Abbey and Megan Theresa, Tom, (MPS III) Weisenbach Luke, Hannah and Jake (MPS III) Elston Luke, Hannah and Jake Jack (MPS II) and Nicole Frye Nicole and II) (MPS Jack Barbara Wedehase Laurie Turner Naureen Sayani PendletonMaryEllen Terri Klein Kirch Larry Angela Guajardo Tom Gniazdowski Anne Gniazdowski Shane Gibson Jenifer Gibson Steven Frye Ernie Dummann Steve Holland, chair Committee: Fundraising 20 Fundraising News businesses facingtoughtimes. and families ways to sensitive about are we honest that message the be sending thus to fundraising, in us costs our cut asks can we also Pitman day. every us inspire children our how of examples stories tell to but apologize, or desperate sound about our children and families not and their strengths. As passionate advocates we can easily to give many is theory His recruiting. or asking when of author Pitman, A. Marc your feelingsofsuccess.Itshowsthemthatyouwereagoodstewardthemuch-neededdollars. in share to them allow will went money the where specifically and raised you much how supporters helped. efforts their how show to doesn’tlarge be to have previous results. Tell our them know specifically thethem amountlet ofto money yourneed fundraiseralso We brought times. in.many The amount too them thank can’tWe support. their for again to According we needtobecomemoresavvyinourfundraisingefforts. But cause. special very our support to friends and family our on Society.counted have Wewe know MPS National the for advocates and family,friends are who us of those for news good very is This feel thatpeoplewanttogivewheretheyknowtheirhard-earneddollarswilldothemostgood. Economists hearts. their to close hold they groups the to give to continuing are donors individual Fromlarge funds. raise to trying organizations for nonprofits to small, it has been a tough are year to receive things corporate donations. The difficult good news is that how about abound Statistics YES, itispossible! Fundraising inTough EconomicTimes: by Let ourfamiliesandchildrenbeinspirationforsuccessful fundraisingin2010! ask foraspecificamount;letthemcontrolwhatthey feel theycancontribute. times but make our case for funds positive. When asking for donations from tough friends acknowledge and we stores, don’tif involved all for rewarding be can 2010 in fundraising that advise Experts dollarraisedbringsusclosertoacure! mentioned butcan’t bestressedenough,every previously As area. your to unique be may that ideas creative of think and run imagination your Let flowers for day,selling a for bagger grocery Valentine’s raffle, day, dogwash…thepossibilitiesareendless! 50/50 drop, ball golf bingo, chip cow night, There also are Web fundraising ideas. Some sites Internet that ideas can are: offer casino wonderful In addition,21familiesheldwalk/runsin2009andraisedmorethan$285,000. Courage fundraiser, wedding Day, Charity Premier GalaandDressDownDay. Macy’s dance-a-thon, bowl-a-thon, stand, lemonade for a Cure, Tupperware fundraiser, Mad Hatters Tea Party, cornhole Pumpkin tournament, Harvest, Kitchen, jeans day at work, Krazy socks, bake sale, Pampered Chef, online auction, Swings and Shots Pizza California fundraiser, golf sale, jewelry Silpada night, trivia recital, piano fundraiser, Cookie andsuccessfulfundraisers.Thoseinclude: in. OurownMPSfamilieshavehadsomewonderful you. If you have been hesitant to have a fundraiser,for worked start small has and what do change something you to have have don’tan interest you past, the in fundraiser successful a held have you If Getting started MaryEllen Pendleton w ne t sat y hnig u peiu dnr tm and time donors previous our thanking by start to need we fundraiserhelp.com, says fundraisers in this economy need to be positive be to need economy this in fundraisers says Fear!, Without Ask says that telling your telling that Fundrasierhelp.comsays Annual Fund Campaign Raises $73,500 in 2009 Fundraising News | Annual Fund

Every year support for the Annual Fund increases. This critical component of the overall funding strategy keeps the organization strong. Through your tremendous support during difficult economic times, you have shown the Society that you understand the need of our families and those affected by MPS and related diseases. Your gift will provide support to families through our Family Assistance Program, provide funding for federal advocacy initiatives within our legislative program, and provide much-needed operating funds. For all of you who reached into your budgets and donated to the Annual Fund in 2009, the Society gives our sincerest thanks! We can continue working strong within our mission, supporting families and funding research for a cure.

Philanthropist $1,000 or more Robert and Suzanne Washburn Ron and Barbara Dengel in honor of Erik Fletcher Ernest and Debbie Dummann Tom and Kim Whitecotton Dutch’s Daughter, Inc. in honor of Scotty Whitecotton Tom and Anne Gniazdowski in memory of Danny Gniazdowski Volunteer $250–$499 Grace for a Cure, Inc. in honor of Grace Bellontine Mary Starr Adams Charles and Kendra Lesta Laird Barber in honor of Mitchell Finzel in memory of Christopher Lesta David Beatty in honor of Danny Miller Robert and Marjorie Lovell Cheryl Bien Douglas Macleod John, Jenny, T.J. and Molly Birmingham Joe and Jan Melnyk Steve and LaVonne Blechinger Mark and MaryEllen Pendleton in memory of McKenna Bailey Raymond and Barbara Alpert Foundation Michael and Elizabeth Burton in honor of Bryce Chesser in honor of Bryce Chesser Tracy Szemanski Patricia Dickson in memory of Clinton and Zachary Szemanski Scott and Peggy Dionne Amy and Klane White Charles and Josephine Ellard in memory of Susannah White in honor of Karina Guajardo Bart and Sally Finzel in memory of Harold Espinal Leader $500–$999 Donald and Romona Finzel Judith and Art Ackerman in honor of Jack Frye in honor of Mitchell Finzel Ann Alden in honor of Jack Mahoney Janet Forde Mel and Millie Anhalt Stephen and Kimberly Frye Joel and LeeAnn Bernbaum Matthew, Roberta and Dexter Jenkins in memory of Mark Bernbaum John W. Hancock Foundation Rob and Diane Cassil in honor of Bryce Chesser in memory of Matthew Cassil John and Janet Kappel in honor of Debbie Kappel Julie Dopheide in honor of Julia Dopheide Joel and Lisa Klessens Rod and Kathy Finzel in honor of Mitchell Finzel in memory of Morgan Klessen Steve and Amy Holland Fred and Joyce Koehler in memory of Ryan Mask in memory of Spencer Holland Lori Caldwell LeDoux in honor of Matthew Caldwell Elizabeth Karas Wayne and Paige Lewis in honor of Madison Lewis in memory of Joseph and Jonathan Karas Robert Harvey and Roxanne Maffitt Wendell and Karen Keith in honor of Davis Barkley in memory of Amanda Keith Gary and Sunni Markowitz Larry and Susan Kirch in honor of Connor Anhalt Mary Jo Page in memory of Charles Page Sr. Maria Meconi in honor of Denise Dengel Bernard Ray Austin and Dorothy Noll in honor of Austin Noll IV Louise Reitan in memory of Spencer Holland Alan Pendley in honor of Bryce Chesser Nina Rogers in honor of the Holland family Naureen Sayani

continued 21 James and Sheila Slawson in honor of Matthew and Camden Crockett Ruben Solis Linda and Dan Day in memory of Scott and Greg Day Susan Taylor in honor of Olivia Lovell Robert Desnick David and An Tootill Ray Dettmer USA Couriers Jerry and Sue Deutser Kenneth and Barbara Velten John and Elissa Di Carlo in honor of Bryce Chesser Sharon Dipkin in honor of Tyler Langan Helen and Bill Vespe in honor of Caitlin Vespe Mr. and Mrs. Dols in honor of Nathan Roma Barbara Wedehase Bonnie and William Doster Don and Lisa Wells in honor of Matthew Wells in honor of Mitchell Finzel Hubert and Elaine Willman Trent and Amy Dummann in honor of Sean Dummann Friend $100–$249 Carla Ellard in honor of Karina Guajardo AG Communications, LLC Toni Ellard in honor of Karina Guajardo Betty and Barney Arceneaux Robert and Amy Farrell in honor of Braden Farrell in memory of Joe and Maggie Langford David and Stacey Aronson Gail Finney in honor of Mitchell Finzel in memory of Clinton and Zachary Szemanski

Fundraising News | Annual Fund Stephen Aselage Nancy and William Fountos Robert and Marjorie Austin in honor of the Cochenour family in honor of Matthew Caldwell Betsy and Steve Fowler Mark and Alberta Balliet in honor of Kimberly Fowler in memory of Richard and Jennifer Balliet Donald and Mary Jane Fowler Jane Barker, MD in honor of Kimberly Fowler Dwight and Debbie Barkley Ronald and Sheila Francis in honor of Davis Barkley Noelle and Jonathan Frye in honor of Jack Frye Amy Barkley in honor of Davis Barkley Shane and Jenifer Gibson in honor of Clara Gibson Richard Barrett Thomas and Jean Gniazdowski Ruth Bauerle in honor of Freeman Bauerle in memory of Danny Gniazdowski Patricia Baxendale in honor of Molly Birmingham Russell and Catherine Goodale Brad and Cherre Bickham in memory of Danny Gniazdowski in honor of Loren McClelland Blake and Ashley Graeber Mike and Grace Bodura in honor of Bryant Graeber in honor of Michael Bodura Luis and Angela Guajardo Thomas and Diana Boland and family Charles and Shirley Hagermann Katherine and Joe Bonville in honor of Allison Kirch in memory of Tom Hagermann Bruart Collision Johnathan and Brenda Haggett in honor of Zachie Haggett Linda Burtt in honor of Sasha Segal Sheryl and Gerald Hall in honor of Julie Hall Mark and Stephanie Caldwell in honor of Matthew Caldwell Billy and Diane Hardison in memory of Brian, Christopher and Eric Hardison Anthony and Donna Cataldi in honor of Cara Sanford Shelby and Tim Haslett in memory of Douglas Sampson Tony and Shirley Catanzarite Mark Hopkinson in memory of Mark Bernbaum Michelle and Don Churchill Todd and Jennifer Howard Michael, Margaret and Grace Ciacciarelli in honor of Joseph Delvaux in memory of Max Ciacciarelli James and Saundra Huff in honor of Sasha Segal Ross and Belia Coddington in honor of Karina Guajardo Mike and Joanne Huff in honor of Sasha Segal Michael and Claire Constantine Steve and Pat Irish in honor of Jacob Irish in memory of Chris Rosseau Barbara M. Ives in honor of Mackenzie Clarke Kayla Cotkin in memory of Elliott and Martin Cotkin W. Andrew and Lauran G. Jack Bob and Laura Cowin in memory of Kyle Jack Kevin and Djuna Crawford Gary and Paula Kacer in honor of Kaylee Kacer in honor of Amanda Crawford James and Mary Kalteux Billi and Jeremy Crockett Raimund and Inge Kasner in honor of Paul Adams 22 continued Fundraising News | Annual Fund Kevin and Mary Kimmet in honor of Andrea Kimmet Sue and John Scott Terri Klein Nisreen and Mohammad Shawar James Kremers and Sally Rullman Mary and Thomas Shine in memory of Katie Shine in honor of Ian Smith Tami Slawson John and Joyce Lane Robert and Cheryl Slowey Robert and Katie Lawson Mike and Barbara Smith in memory of Audrey Lawson Alberta and William Stanley David Lebec in memory of Brian Stanley Kenneth and Sandra Ledford Sergio and Angela Stasi in honor of Erin Peters in honor of Amanda Crawford Bob and Susan Steiner Monica Leone in memory of Kristofer Arnold Peter and Sarah Storlie in honor of Allison Kirch Kay and Joel Levy in honor of Connor Anhalt Kim and Bill Swartz in memory of Alex Sobie Lloyd and Cheryl LoCascio Merlin Tracey in honor of Marcus Garvin in memory of Logan LoCascio Jeff and Mary Von Handorf Gene and Cynthia Logan Jim and Kathy Ward in honor of Bryce Chesser in honor of Rhianna Logan Kenneth and Victoria Warner Robert Maiden and Becky Tanamachi in memory of Bradley Chapman Barbara and George Malina in memory of Glen Malina Meghan Wedehase Stark Eileen Marchica in memory of Fran Greenberg Paul and Kristin Wehrle in memory of Peter Wehrle Pamela Eddy and Robert Martineau Tom and Theresa Weisenbach in memory of Danny Gniazdowski Claude and Roselyn Wells Stephen and Marie McClurg in honor of Matthew Wells in memory of Dylan McClurg Gary and Tracy Wells Ray McPartlin John and Ellen Williams Bernard and Evelyn Morgan Lynn Ann Witt Richard and Eva Morgan Ron and Chris Morrissey Donor $26–$99 in memory of Cade Morrissey Dagoberto and Josefina Abreu Gary Mortensen Richard and Claudia Ackerman in honor of Jack Frye Elizabeth Neufeld Frank and Nancy Aiello in memory of Katie Shine W.M. and Katherine Noble Dean and Kathy Aker in honor of Samuel Aker Austin and Cheryl Noll in honor of Austin Noll IV Debbie Allen Anne Novak in honor of Lindsey, Hannah and Karen Efird Ann O’Malley in honor of Allison Kirch Ralph and Martha Anderson Sharon O’Connell in memory of Amanda Keith Margaret Offutt in honor of Marcus Garvin George and Gail Anderson Thomas and Barbara O’Malley in memory of Amanda Keith Karen Patterson in honor of Spencer Gates Gerald and Susan Anhalt in memory of Nell Eiser Kent and Nina Peter Timothy and Michelle Annis Jeff Peters in honor of Erin Peters in honor of Stephanie Annis Anthony and Latona Pisa Leonard and Barbara Barcousky and family Thomas and Sharyln Pope in honor of Lauren Pope Mary Ellen Barringer Flossie Pryor in honor of Andrew Cochenour Don and Nina Bergquist Michele Purves in honor of Tristan Heinz Lorraine and Frank Bien Janet Rafferty in honor of Shannon Tootill Todd and Nicole Blancheri Karen Ratto David and Stephanie Bowser Ralph and Wendy Rennaker in honor of Maddy Wigglesworth in memory of Jill Rennaker Don and Frances Bryant Gerry Roark in honor of Bryant Graeber Sherrie and Tony Roman Kevin and Kim Burke in memory of Edie Burke in memory of Kristofer Arnold Caroline Butz Carl and Donna Rose in honor of Sandra Webb Central Rockies Schipperke Club Hickman and Carey Rowland Steven and Jennifer Clarke in memory of Sally Rowland Esther Conrad in memory of Joshua Williams Harvey Rubin in memory of Paul Adams 23 continued Mindy Creamer Judy McKinstry in memory of Adam Hale in honor of Cristol Barrett O’Loughlin Joe and Paige Migliozzi Barbara and Ron Crecco in memory of Christopher Migliozzi in memory of Mark Crecco David and Lorraine Miller Estelle Culpepper in memory of Geoffrey Anders in memory of Clinton and Zachary Szemanski Bill and Laura Dapper Jacqueline Miraglia in memory of Andrew Watkins Barbara Dodane Troy and Dianne Mitchell Jeanne and Maurice Drew Scott and Patricia Morris in honor of Kendra Gottsleben Nicole Morrissey Tara and Jack Elston in honor of Jake Elston in memory of Cade Morrissey’s 9th birthday Darla Elswick Michael and Anita Muonio Brian Engel in honor of Erin Peters in memory of Joseph and Zachariah Muonio Pam and Ben Feldman Emmett and Pauline Murray in honor of Amy and Davis Barkley in honor of Kimberly Fowler Sergio and Fernanda Felix Carol Nareski in memory of Diana Rodriguez Beverly Nivens in memory of Edie Burke Patrick and Amy Fitzgerald Mary Anne Oliger in memory of James Oliger Jr. in honor of Lee Matthews Eileen and Larry O’Steen

Fundraising News | Annual Fund Odilia Flamengo in memory of Diana Rodriguez in memory of Ryan O’Steen Edward Flynn Anthony and Pamela Paladino Anna Funkhouser in honor of Caden Mitchell Dennis and Chris Goggins Jeanne and Bruce Palzer in honor of Brianna Palzer Lee and Tammy Gottschall Robert Park and Elizabeth Binkley in memory of Danny Gniazdowski Ronda Paullin Greg and Toni Graham Teresa Peecook in honor of Jacqueline Graham Carolyn Leer Porzel Natalie Haggett in honor of Zachie Haggett in memory of Robert Alvarado Jeffrey and Barbara Harrell Lawrence Pung in honor of Austin Noll IV in honor of Kimberly Fowler Stephanie and Edmund Rabuse Lena and Rollie Harris in honor of Paul Adams in memory of Scott and Greg Day Stella Reeve in honor of Kristen Reeve Michelle Hayes Bonnie and Ralph Rennaker Roy and Goldie Hedrick Fred and Donna Reyes Jean Jacobsen and Richard Underwood in memory of Clinton and Zachary Szemanski STAMBG Johnson in memory of Edie Burke Gary and Bonita Ritondaro Patricia Jones in memory of Zachary Jones in memory of David Hedrick Paul and Leslie Karas Joseph and Catherine Rizzo in memory of Mark Bernbaum in honor of Sarah Mallia Charles and Millicent Kennedy Shawna Robson in memory of Russ and Doug Kennedy Kay Rogers Susan Ketchum in memory of Robert Grisham Suzanne and Ronald Ruchti Ardis and Henry Ketterer in memory of Peg Ketterer Edward and Carol Ruhnke Gary Kirch in honor of Carly Ruhnke Andy and Meg Kramer Thomas and Carolyn Russo Scott and Gabriella Lich in memory of Stephanie DeAngelis Edward Ludloff Doug and Lauren Sanford in honor of Cara Sanford Patricia Madeux A.L. and Angela Sarantinos Joseph and Jeanne Mallia in honor of Sarah Mallia Mark Schlafer Don and Carol Manning Ellen and Neal Schoepp in memory of Kyle Joe Manning Greg Sharrits in memory of Edie Burke Michaelle and Wolfgang Mauch John and Jennifer Shepherd in memory of Paul Adams Magill Shipman Ward McKeithen David and Rebecca Silkey in honor of Loy and Susan McKeithen Burt and Leenie Skolnik

24 continued Fundraising News | Annual Fund Julia Smith in memory of Greg and Scott Day Cindy and Steve Hamblen Pauline Stukus in honor of Sarah Mallia in honor of Kimberly Fowler Peter and Dagmar Suhr in memory of Paul Adams Marlys Herring in honor of Bob Simmons Donald and Rachel Swicker Robert and Marguerite Iannacone in memory of Joseph and Jonathan Karas in memory of Kris Arnold Ellis and Jeanette Taylor in memory of Shauna and George and Linda Johnson in honor of Jonathan Taylor in honor of Amanda Crawford Nita Todd Russell Kacer in memory of Kaylee Kacer Ruth and Matthew Travis Terry Kalna Eric and Laurie Turner Rick and Beth Kania Michael and Veronica Vacca Brian and Kristine Klenke in honor of Richard Rotelli Louise and Edward Kofron in honor of Erin Peters Marie Wegener Pam Kovach in memory of Alleis Wilson in memory of Laura and Michael Sheekey Clint and Nikki Kremer in honor of Ava Kremer Joan Werner in memory of Mark Bernbaum Carol Kuhn Foster and Mary Ann Wick in honor of Clay Howard Paul and Alicia Leach in memory of Ryan Mask David and Diana Zimmerman Ralph and Lenore Liff in memory of Sara Zimmerman Barry Lyons in honor of Rachel Cumpain James and Eleanor McCaffrey Patron $5–$25 Madeline and Merritt Moseley Bob Ahern in memory of Edie Burke Wade V. Baise Bernadine Nardin in memory of Daniel Nardin in memory of Erich and Garrett Baise Rena Oley in honor of Zach Haggett Charles Bell in memory of Paul Adams Rick and Amy Owen in honor of Eric Fletcher Steven and Teresa Bell Mary Page in memory of Danny Gniazdowski Rose Ann and Dominic Bencivenga Patti Pair in memory of Audrey Lawson in memory of Stephanie DeAngelis Dave and Michelle Patterson Walter and Olive Blough in honor of Karina Guajardo Jimmy and Helen Carr in memory of Tyler Deskins Charles and Ellyn Phillips Steve and Karole Chesser in honor of Mel and Millie Anhalt Kent and Karlene Classen Douglas and Mary Pica in memory of Karlee Rae Classen Terry and Nicole Rode in honor of Kraig Klenke Dorothy and Tilford Cobb Barbara Russo in memory of Amanda Keith Bob and Denise Crompton Mildred Ryan in memory of Kelley Crompton Paul and Kathy Rysz Mike, Lisa, Maria, Molly, Sarah, Johnny and Richard and Ellen Sidman in memory of Ryan Mask Gracie Day in memory of Greg and Scott Day Leonard and Linda Terrien Marjorie Ditmore Anita Tomren Geri Lynn Edwards Carl and Mary Ann Traina Martin and Ann Elliott in honor of Michelle Hopkins in memory of Marty Elliott Jr. Rick and Rebecca Wildman Wilbur and Irene Erhardt in honor of Matthew Wells in honor of Matthew Wells Olen and Donna Evans Bill and Fran Woody in honor of Blake and Paige Halk in memory of Danny Gniazdowski Peter and Elena Fairchild Robyn and Paul Young Geraldine Faucett in honor of Michelle Hopkins Raymond Young in honor of Kaylee Kacer Lois Finney Andrew and Louise Zygmuntowicz in memory of Clinton and Zachary Szemanski in memory of Amanda Keith Barb Fisher in honor of Allison Kirch David and Leesa Galloway John and Jennie Gladysz in memory of Danny Gniazdowski Jeff Granzotto Bob Guletz in honor of Sabrina Gabriel

25 Dakotah ArthurSmith(MLII) Fundraising News 26 emotions. my contain hardly could I out, everyone send to time came it When eyes. our from flowing were was Blue Dakotah’s say. favorite color. Tears to of joy and success like we as sky” blue “Dakotah total a to up opened sky The great. was day that weather the importantly Most golfers. more 130 than had We them.” sent Dakotah and said, “God and smiled I from?” come people the all WeWebefore. fundraiser a done never have did We were unsure of the outcome. We were afraid. Golf Outing. Society MPS and Day Dakotah’s first the had we 2007, 20, April On grandson. little beautiful our to honor to Society MPS the for fundraiser decided a have grandparents) (Dakotah’s Chriss Peggy and Clarence year,we, that of December head. were in the process of placing a shunt in his little doctors the as table operating the on passed He We lost Dakotah Arthur Smith on April 20, 2006. Dakotah’s DayGolfOuting coming. Our broker asked, “Where did “Where asked, broker Our coming. kept they and came golfers The prizes. sponsors, got volunteers, we the course, caterers and door success, great With best. local the for hoped and the prayed Weknew. we in ad people the all contacted and newspaper an placed out sent mailers, We us. accommodate course would what or get would we sponsors of number the know not did We the area. through coming storm huge nor’easter a of talk was There concern. big another was weather who The come. golfers would of number the know not The CaddyShack. the and members, staff its and course sponsors, golf Armitage and participants the Linda all Kalbfleisch, Cullen, Evelyn Muchmore, Vivian and Allen Judd, Linda Robinson, Lyn John Sharpe, and Shirley Hensel, Spike Priar, Kathy Smith, Jeffrey James Lusk, Jameson, Judy Jeannie Michelle Vandenbrugh, Melham, Addams, Linda Michele Meckley, Kostjal, thank: to want Suzette we people many so are There help achildandtheirfamily. to funds have will Society the and remembered be always will name Dakotah’s that insure to all our give Society.Wewill the for funds more net will outings future Wefor outcome the pray also shine down upon that day will and the ones Father to follow. heavenly our that pray We 2010. in again it do to decided we year.So following the The wonderful participants were inquiring about not were there. sponsors the but great golfers, a of had turnout We $4,000. sending are we 2009, year,This outing. golf 2008 the from $8,500 for check a Society the to send to pleased were We given. two years we kept an following account of what The amount was things. do we way the corrected received a donation amount. Since then, we have we sent all the money to the Society and we never and year first our Society.was However,the that for $11,000 about raised had we moment that at that committee the of head the by stated was It prizes. skill the out Wegave volunteers. the and dinner,for course committee the introduced we When it was over and everyone returned from the Fundraising News | Walk/Run 27

- continued Sharon Cochenour Cochenour Sharon more than $17,000. Run for is held Erin and annually has a board of directors. Each year the Peter’s family family Peter’s the year Each directors. finds many rewards in hosting the event as they are able to combine it with a family reunion. ‘n Roll for MPS Walk Andrew’s Aug. 29, 2009 Coordinators: Event and Barbara Pryor OH, this seventh Held in Clarksburg, $3,500 than more raised event annual The in Cochenour. of honor Andrew event includes a family picnic attendees. for

Raising Awareness and Funding Research Related Diseases for MPS and Society MPS National celebrated program walk/run 10th anniversary participants ran, walked and raised The Peter’s family, along with more 10th their hosted volunteers, 50 than honor in held is event The walk/run. of their daughter, Erin. Since 2000, Woodstock at held been has event the High School and has year raised This research. for $200,000 than more children who have succumbed MPS and to related diseases since the first run. 10th Annual Run for Erin Oct. 3, 2009 Stacy Peters Event Coordinator:

anniversary of the walk/run program of program the walk/run anniversary memory in Shine Linda to tribute the a is began Linda Katie. daughter, her of walk/run program for the National MPS Society. Amy Miller is the co- coordinator of this annual event in raised They Danny. son, her of honor research. MPS for $20,000 than more imprinted was logo above the year This on T-shirts with names of all the Held Held in Downington, PA, the 10th 5K for Katie/Do It for Danny Oct. 11, 2009 Event Coordinators: Linda Shine and Amy Miller For a decade, National MPS Society members, walk/run families fundraisers and throughout friends the have country. committed Each to of step closer these to finding treatments and events cures for MPS and has related diseases.We continue brought to us one This program continues to be a success year after year. Remarkably, these events have raised raised have events these Remarkably, year. after year success a be to continues program This more than $2,806,000 since they began in 2000. In 2009, 21 walk/runs generated approxi making in work hard their for volunteers many and coordinators the of all thanks Society The each event successful. increase awareness and funds for research by educating one person at a time. by educating one and funds for research awareness increase mately $285,000. Whether large or small, each event was successful at raising awareness, nationwide. cities in people of thousands involving and community the among out reaching Fundraising News | Walk/Run 28 raised $3,000. and participants 58 support, school wonderful had event The IV). (MPS high by school senior Khunsha Numan, hosted was and PA, Pittsburgh, in held was walk/run first-time This and VickyMansfield Event Coordinators: KhunshaNuman Sept.19, 2009 Krusade forKhunsha for research. $6,000 than more raised and teers, volun- 50 and participants 200 than more had event The area. the from brought many MPS families together and auction silent a vendors, food activities, children’s had event This at Travis Air Force Base in California. Kassi’s Kause was a first-year event held and AmyAdams Event Coordinators: May 30,2009 Kassi’s Kause more raised than $1,300forresearch. event IA, Ames, this completedDr.by Matthew Ellinwood, research MPS of honor in students University State Iowa by Organized Event Coordinator: EmmyHogue Sept. 19,2009 Heartland RunforMPS a brisk41degrees. was and participants 73 hosted event The $1,000. than more raised MO, Grove, Mountain in held Run, Fun Family Reed Evan Annual 4th The Event Coordinator: LauraHiler Oct. 24,2009 Evan ReedFamilyFunRun The event raised more than $49,000. families. and support donors corporate from tremendous with unteers vol- 15 and participants 111 hosted event The CA. Novato, in run/walk annual seventh its hosted BioMarin Event Coordinator: KathieWard Sept. 27,2009 “Run forYour Life” BioMarin/MPS Trisha Offenbacher

Steven andJenniferClarke Event Coordinators: Oct. 11,2009 MacKenzie’s RunforMPS past threeyears. than $78,000 for MPS research in the more raised has family Montgomery The $4,500. than more raised run walk/ year’s This IA. Rapids, Cedar AnnualLucasin4thforLaps thefor Montgomery’s the joined Families Stacey andLewMontgomery Event Coordinators: Aug. 30,2009 Laps forLucas more than$17,500. raised and 11 KARE TV was covered by event The lunch. and auction silent 50 a events, race joined for volunteers participants 275 than More MN. Prairie, Eden in held was MPS for Run Jack’s Annual 4th The Heather AldenPope Event Coordinator: Sept. 19,2009 Jack’s RunforMPS

in 2010withacharitydinner. research community for funds raise to hope and the among awareness raising enjoyed for have They research. $1,100 approximately raise to walk/run annual eredfourth the for gath families MN, Valley, Apple In Event Coordinator: KristinMyking Sept. 19,2009 MPS andMitoWalk/Run 2009 for $6,000 research. than more raised and II MPS with Radius David and Chip MI.This event isinhonor ofbrothers Rapids, Grand in walk/run annual eighth its celebrated MPS for Miles Event Coordinator: LaurelRadius Sept. 12,2009 Miles forMPS The event raised more than $12,500. goodies. home-baked enjoyed one - Every MPS. to awareness bringing posters, with streets the lined team and volunteers. Mackenzie’s amazing walkers runners, by represented well was school high The club. Kiwanis wellvolunteersas fromthePoquoson friends as helped and Family crowd. the didn’tof rain spirits the dampen and skies cloudy The MPS. for Walk the 7th Annual Mackenzie’s 5K Run/ surrounding in of support in out came communities and participants VA, 300 Poquoson, than More continued -

Fundraising News | Walk/Run 29

her to focus her energy great a her gives it and positive thing on - some deal of satisfaction to know that she for cure a find to something doing is disease. this devastating Family & Friends Sowden for a Cure Walk Sept. 13, 2009 Event Coordinators: Josh and Sheri Sowden Auburn, in day sunny beautiful a On MI, the Sowden family hosted their second annual Walk/Run for MPS research. The Sowden family hosted also a golf tournament to event. Walk/Run their for awareness raise They had 185 honor in held participants is event and The volunteers. 15 of their sons, Ethan and and Tyler, raised more than $24,000. Strides for Sara June 6, 2009 Event Coordinator: Monique Dickerson The 2nd Annual Strides was for held Sara in Fair Haven, beautiful NY, on summer a day. There were 229 participants and 33 volunteers. The event, which raised more than $3,900, included hotdogs and beverages a at the finish raffle,line. The Dickerson’s and are thankful for the community event! look forward to next year’s support and

to her is having the opportunity to teach people about MPS. Dorothy continues to do fundraising for the MPS Society because it helps release the feeling of helplessness. It allows This This year was the 10th anniversary for Ryan’s Run for MPS. The event is held each year in Sellersville, PA. There were 85 participants and 20 volunteers who came out on a rainy day to raise awareness for MPS and $7,000 for research. Dorothy does not worry about how much money people many how about or raise they important is What year. each up show formats formats that contributed their time to spreading awareness throughout the community. Café Annual Post Office Fun Run for MPS 5K Run/1K Oct. 17, 2009 Kerri Rose Event Coordinator: raised event this NY, Babylon, in Held Mark of honor in $16,000 than more for research. and Casey Lessing River Run for Ryan Sept. 5, 2009 Event Coordinators: Hunt Jonathon and Marie This second-year Guttenberg, event IA, raised held more $13,000. than in The event honor of is Ryan more held than 200 participants Hunt and in 30 beautiful sunny day. a on and volunteers had 10th Annual Run for MPS Ryan’s Oct. 10, 2009 Dorothy Mask, Event Coordinators: and Fred and Joyce Koehler

The families throughout worked the community very raising awareness hard and funds for MPS. On the day of the event 100 participants and many volunteers raised than more $12,000 for event included a silent auction research. and The luncheon for families and of friends the Bivens. are The very coordinators thankful to all media This event was held in Boone, NC, in in NC, Boone, in held was event This with MPS II. of Bivens honor Nathan MPS Walk/Run LA MPS Walk/Run Oct. 17, 2009 Slawson Tami Event Coordinator: families many October in day hot a On and friends came out in support of the 9th Annual MPS Walk/Run LA. volunteers many with participants 450 annual The $34,000. than more raised North Carolina Nathan’s Walk/Run Sept. 26, 2009 Event Coordinators: Klein and Terri Emily Trivette consecutive consecutive year. More participants and than 40 volunteers came 290 aware- raise to day beautiful a on out ness and event. funds the for into MPS. A western incorporated was theme Courage medallions were provided to the many children who came to the event, which raised more than $9,500. event hosts many MPS families from around California and is followed by meeting. family and picnic regional a MPS Run for Their Lives Run for MPS 17, 2009 Oct. and Scott Hardin Event Coordinators: Steve Holland MPS Run for Their Lives was held in Fort Worth, TX, for the eighth 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

Fundraising News 3. Mail to the Society and we’ll do the rest • Contribute through the Combined Federal Campaign if you are employed by the federal government — CFC #0845 • Designate the Society as a member of your local United Way. You will need to supply them with the Society’s name, address and Federal ID number (FEIN #11-2734849) • Annual Fund donation • Major gift (usually 10 times that of your Annual Fund gift) • Planned gift 1. Bequest in your will 2. Charitable remainder trust or charitable gift annuity 3. Charitable lead trust 4. Life insurance policy 5. Gift of appreciated assets (stocks, mutual funds and bonds) • Gifts may be applied to the Society’s general operating purposes or restricted to one of our designated programs. CONTACT: [email protected] or 877.MPS.1001

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.

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. 30 A Warm Welcome 31 Finley Hubert Livia Hubert (MPS III)

Jake, Kelly, Livia and Finley Hubert www.huberthoneys.blogspot.com [email protected] [email protected] in our life, but it does not rule our life so that we that so life our rule not does it but life, our in is it important how know now We function. can’t to have more good days than bad. We are such an active and happy family. It’s not find us often sitting still. you Livia’s diagnosis has opened our eyes in a experience. way When we most were first learning people about don’t Livia’s condition, get I kept focusing on to the future. things horrible these of all about thinking kept I that No MIGHT one happen knows to what her. their future holds. I’m able to “LIV” each and every day to its get fullest. to We experience our lives and the lives of our children in a way that me, this is a was different before July 8, 2009. To or life, my in this want don’t I course Of blessing. Livia’s life, but it is and I’m determined to give her the best life she deserves. Livia is such a vibrant speech still and isn’t where happy it should child. be, but Her she gaining is more words each day. some sign language She that she enjoys also helping me does teach Finley. Some of Livia’s favorite things include reading, dress-up, The Wiggles, dolls, horses, Sesame You Tube Street, (specifically Beyonce’s baby “Single Ladies” video), coloring into anything and she can getting get her She Liv. by artwork original bear doors and hands walls on! Our loves music, and Santa brought her a piano for Christmas this year. Livia loves her baby and Finley sister is such a trooper enduring all of her hugs and kisses. Jake and I have been married for five years.We are both very into fitness and are running our first half marathon this spring. Our girls are our life. When we get free time we enjoy movies and playing games. We have a very supportive and loving family and group of friends. From the Hubert household to yours, here to we listen, cry are and laugh with. This life is a journey and no one has to travel it alone! Hubert but would like to introduce your family to the rest of the Society, please e-mail of the your Society, family but to would the like rest to introduce at [email protected]. Laurie Turner The National MPS Society welcomes the family. We are the Hubert family from Roscoe, IL. My principal. assistant school high a is Jake husband girls: beautiful two with mom stay-at-home a am I Livia Grace (2½) and Finley Faith (8 months). Before I was blessed with my current situation, I was a surgical technologist. 2009. 8, July on A III MPS with diagnosed was Livia Finley was 8 weeks old. Our lives upside were turned down and we still of “How have can our this moments be our her life?” Livia developmental hit milestones all as of a it baby came until to walking. She did not walk until was 18 she months old. Livia has “episodes” that we thought were seizures. After neurologic exams, no seizure activity was noted and the doctor said it was a habit she had formed. When her speech wasn’t developing like we thought it should, we therapy. speech for intervention early out sought Her therapist suggested that characteristics for Livia which we might want to see had a some geneticist. I shrugged it had off. her We hearing tested and it was indicated she may have a slight This ENT. an to referred were we so loss, hearing doctor thought she had fluid build-up and that tubes would help with her hearing and, in turn, thought this was going We to solve speech delay. all the of ENT our problems. surgery, After Liv’s informed us that during her surgery he across some came things that were questionable This geneticist. and a with up follow to want might we was the second time we heard geneticist, but it still didn’t register that something was During wrong. one of her our routine well-baby nurse checks, practitioner geneticist. Third time mentioned was a charm for seeing me and I scheduled the appointment. I’m pretty sure all a of you know where the story goes from here. A positive urine test and blood test confirmed the her and immediately tested was Finley diagnosis. results were that she was like her mommy and a carrier. daddy, This diagnosis has changed our lives in so many ways. We’ve always had a strong faith, but it has been renewed 10-fold! We’ve also decided that this diagnosis does not Thisdefine is our family. A Warm Welcome A Warm A Warm Welcome introduces new Society members/families and also offers members yet another chance to a connect moment, please with contact one the new another. family If to say you into hello our MPS If and family. you have have welcome been a them member for a longer period of time, Olivia Armand Joey Raftery 4, ML II, 12/11/09 21, MPS III, 1/21/10 Carter Brotherton Brett Sessions 3, ML II, 12/6/09 14, MPS III, 1/3/10 Ezekiel “Zeke” Powell 9, MPS III, 11/6/09

Jennifer Wingate, MPS III 6/25/96–3/9/09

My sweet daughter Jennifer Wingate passed away peacefully in her sleep on March 9 of last year at the age of 12. Her last day was a great one. She and I went to the dog park with our dog Hailey and watched the dogs play in the cool afternoon. We went to the store, came home and watched Barney. She had a bath with lots of hugs from Daddy and went to bed. If there had to be goodbye, it was just the right one.

Jenny brought more joy and happiness to my world than I could ever express. As I have said before, this is not a journey that any parent would ever choose, but I am glad it was chosen for me. She also blessed the lives of her wonderful grandmother, her brothers, loving cousins, aunts and uncles, special friends and amazing caregivers, all who made sure she was loved and happy.

Jenny and I attended nearly every MPS family conference since she was diagnosed with Sanfilippo syndrome in 2000. Through the MPS Society she made a lot of friends, and she loved to visit new places. We saw the ocean in Los Angeles, the mountains in Vancouver, snow in Washington, DC, and the desert in Arizona. She saw cows and horses in Ft. Worth, the Mississippi in St. Louis, and of course everything Disney in 2004. She met senators and congressmen on Capitol Hill and in being there she told her MPS story. In between, she traveled to other places with Cheryl and me: to see buffalo in Bellville, seagulls in Galveston, and many other sights and sounds. Hers was a rich life.

Of all these things, Jenny loved watching Barney the most. Jenny loved Barney’s world, and we all Remembering Our Children loved sharing it with her. Through a strange turn of events and an e-mail friendship with one of the show’s writers, Barney got to know Jenny, too, and he said his own goodbye to Jenny. We all heard it for the first time at the end of her memorial event. It was a most special gift from her special friend.

When Jenny was first diagnosed I felt like I had been robbed of my only daughter in an unfair twist of fate. What I found was that I was given a rare opportunity to live with a different Jenny, in a different world. Every day had to be lived for itself, because I knew every day she would drift away a little more. No moment was unimportant. I loved a child that only the fortunate ones of us get the chance to know. Jenny made me who I am and touched many other people in her short time here. Her legacy will be in how we take it from here.

Bye-bye, baby. Love, Daddy. Gordon Wingate (Jennifer’s father) See all four Jennifer Wingate event videos by searching for gwingatetx on Youtube or Facebook. Jennifer Wingate (MPS III)

32 Volunteer Spotlight Volunteer Spotlight Volunteers have been very instrumental in making the Society what it is today. While the Society is here to support our families, our members also contribute much of their time, energy and talents. Everyone has something to offer! In this issue, we interview Dr. Mark Sands. If you know of someone you would like to have featured in a future issue contact us at [email protected].

I currently am a professor in the Departments of and developing more effective treatments for Internal Medicine and Genetics at Washington these devastating diseases. The MPS Society has University School of Medicine (St. Louis, MO). continued to support me and my trainees while My academic background is a bit unusual pursuing directions that would be considered with degrees in medical technology, nuclear too risky for funding by the National Institutes medicine technology, and doctoral training of Health (NIH). We have successfully converted in molecular biology. I have studied lysosomal several of these “high risk” projects into projects storage diseases, and MPS disorders in that have been funded by the NIH. I have been particular, since 1990. I first became interested an active member of the Scientific Advisory in lysosomal storage diseases during my post- Board for greater than 10 years, and served doctoral training at The Jackson Laboratory as its chairperson from 2006 to 2009. I have (Bar Harbor, ME). The MPS VII mouse had trained more than 15 graduate students and just been described by Dr. Edward Birkenmeier post-doctoral fellows, some of whom continue to and this model system provided an opportunity work on these rare inherited disorders. My lab to combine my clinical/medical interests with members and I have participated in numerous my molecular biology training. We cloned the regional fundraisers, family gatherings and GUSB gene from the mouse and determined national conferences. We have learned a great the mutation leading to the enzyme deficiency. deal from these experiences. Most importantly, We then began experimenting with various however, these experiences are vivid reminders therapeutic approaches including bone marrow of why we are doing this research. My trainees transplantation, enzyme replacement and gene and I are continually inspired by the strength therapy. Learning the biology of these diseases and courage exhibited by the children and and developing various therapeutic approaches families. After seeing how the children struggle was very interesting. However, I didn’t appreciate with these diseases and how hard the families the true significance of the work until I attended work to better their lives we are eager to return my first MPS Society meeting in Philadelphia in to the laboratory and work even harder toward 1994. That was the first time I had an opportunity effective treatments. My experiences with the to meet and interact with affected children and MPS Society and the many families I’ve come to Mark S. Sands, PhD their families. This had a profound effect on me know over the years have changed my perspective personally and put my research in perspective. on the world and continue to drive my career. From that point on I have been committed to As for my personal life, my significant other, researching these diseases in the hope of finding Alice Martin, and I recently returned from a effective therapies. magnificent trip to the Galapagos Islands where The MPS Society played an important role at we had the chance to experience some of what a critical juncture in my career. I was one of led Charles Darwin to his groundbreaking the first recipients of the Raymond Bryan IV theories. I have two very high-energy Australian Fellowship while I was a post-doctoral fellow cattle dogs that help keep me on my toes. We also at the University of Pennsylvania. Shortly after enjoy spending weekends at my family’s small that I established my own research laboratory “farm” in rural Missouri. It’s a wonderful place at Washington University in 1994 with the goals to get away and gives me a chance to recharge of better understanding the pathophysiology for the challenges of the laboratory.

33 2009 was an exciting year! One of the Legislative “I am not going to walk away just because it’s hard.” Committee’s immediate priorities for 2009 was – President Obama (on Healthcare Reform) the mentoring of new members on the committee President Obama made it clear to an enthusiastic while giving full support to our members on their crowd on Jan. 28, 2010, that he is not giving questions and concerns regarding congressional up the fight for health reform that protects delegation, communicating their family’s needs consumers from insurance company abuses, to congress, the National Institutes of Health lowers costs, and help businesses and families (NIH), the U.S. Food and Drug Administration

January 2010 around this country. (FDA) and other governing bodies that pass legislation which affect our MPS population. The “I didn’t take up this issue to boost my poll Legislative Committee was able to fund a number numbers or score political points—believe me, of trips to Washington, DC, including sending a if I were, I would have picked something a lot number of Society members to advocate for our easier than this,” said President Obama. “No, MPS needs. As a collective group, our members I’m trying to solve the problems that folks here attended more than 100 meetings on Capitol in Elyria and across this country face every day. Hill in 2009. Our advocacy efforts focused on And I am not going to walk away just because increasing funding from the NIH, increasing it’s hard. We’re going to keep on working to get funding for local respite care providers, urging this done with Democrats, Republicans—anyone the Social Security Administration to include who is willing to step up. Because I am not going all lysosomal diseased persons to qualify for to watch more people get crushed by costs, or compassionate allowances without a long and denied the care they need by insurance company arduous process. We launched our Policy with bureaucrats, or partisan politics, or special Partners (PwP) program and have nearly 100 interest power in Washington.” members and friends who will help us on a moment’s notice. As 2010 arrived, our Society The president told the crowd he is working joined the Rare Disease Congressional Caucus closely with Congress to complete work on (see below). Our focus for 2010 will continue healthcare reform that will bring security and to support families through federal legislation stability to Americans who have insurance and and partnering with other organizations and provide affordable options to those who don’t. nonprofits on common issues. Legislative Update #50

Legislative Caring for Caregivers Committee: In January 2010 the Middle Class Task Force unveiled a series of initiatives in the president’s FY2011 Ernie Dummann, chair budget that are aimed at helping families with soaring childcare costs, balancing work with caring for Steve Chesser elderly relatives or people with disabilities, paying for college and saving for retirement. The nearly Jennifer Clarke $103 million investment proposed by the Middle Class Task Force will support more respite care, Debbie Dummann counseling, training, referrals and adult day care. Steve Holland President Obama has said that Vice President Biden’s Middle Class Task Force’s recommendation Terri Klein to increase funding for the National Family Caregiver Support Program and Lifespan Respite, along Dave Madsen with strengthening supportive services through Title III-B of the Older Americans Act, represents a Austin Noll huge investment in community-based programs that support the independence of older Americans MaryEllen Pendleton and their caregivers. These funds will enable them to access and get the critical services that they need Laurie Turner while avoiding unnecessary and more expensive institutional care or spending down to Medicaid. Barbara Wedehase The extra funding proposed by the Task Force will allow nearly 200,000 additional caregivers and Kim Whitecotton three million more hours of respite care to be provided. It adds funding to programs that provide transportation help, adult day care, and in-home services including aides to help bathe and cook.

Rare Disease Congressional Caucus Announced National Organization of Rare Diseases (NORD) Board of Directors Vice Chairman and CureTheProcess Advisory Committee Member Frank Sasinowski announced the formation of a Rare Disease Congressional Caucus to seek creative solutions to problems faced by patients and to serve as a forum for discussion of issues related to access, research and increased innovation. The caucus also will seek to increase funding for two government agencies: the NIH Office of Rare Diseases Research and the FDA Office of Orphan Products Development. In addition, it will address regulatory issues 34 continued Legislative Update | January 2010 Legislative Update | January facing the pharmaceutical, biotechnology and medical device industries. One of our legislative priorities in 2009, spearheaded by Legislative Committee member Austin Noll, was to initiate or join an lysosomal disease caucus. With the help of NORD and CureTheProcess, this will become a reality. The National MPS Society was one of the first to join as partners in the formation of this caucus.

NIH Awards $18.3 Million in Recovery Act Funds to Support Science, Technology, Engineering and Mathematics Education To remain competitive in our 21st century global economy, the nation must foster new opportunities, approaches, and technologies in math and science education. This begins with a coordinated effort to bolster science, technology, engineering and math (S.T.E.M.) education nationwide, starting at the earliest stages in education. Developing a more diverse and academically prepared workforce of individuals in S.T.E.M. disciplines will benefit all aspects of scientific and medical research and care. As part of this national effort, the NIH announced it is awarding approximately $18.3 million to researchers over two years to strengthen and enhance efforts to attract young people to biomedical and behavioral science careers, and to improve science literacy in adults and children. The Recovery Act funds provide an opportunity to fuel the growing interest in mathematics and science, and apply rigorous scientific methods to educational research to develop practical interventions for tomorrow’s classrooms. “Attracting the best and brightest students in science and medical careers is critical to developing a workforce capable of addressing the emerging and complex challenges in biomedical research,” said NIH Director Francis S. Collins, MD, PhD. “S.T.E.M. education has the added value of advancing scientific literacy, a high priority for our nation.”

U.S. Approves New Stem Cell Lines for Publicly Funded Research Thirteen stem cell lines have been added to the pool that scientists can use for taxpayer-funded research, and many more such lines will soon be made available, U.S. health officials announced. These are the first additional embryonic stem cell lines approved for research funded by the NIH since President Obama last spring lifted restrictions on stem cell research that were imposed eight years ago by then-President George W. Bush. “With these [lines] now becoming available for federally funded researchers, we believe it will speed up the process of investigating ways in which this remarkable new area of developmental biology can be explored,” said NIH Director Dr. Francis S. Collins. Collins noted that during the past eight years, hundreds of embryonic stem cell lines have been created using private funds. Currently, 96 more human embryonic stem cell lines are under review to see if they meet the criteria for NIH-funded research, Collins said. Only one of the Bush-approved stem cell lines is among the 96 under consideration. “There is still a ban against the creation of new stem cell lines with federal funds,” Collins stressed. At present, 31 NIH research grants, worth $21 million, are on hold, awaiting approval of these stem cell lines. With the approval of the 13 lines, researchers can begin to look at these lines to see if they are appropriate for their projects. Those projects include efforts to grow heart muscle, neurological stem cells and neurons. Other research is focusing on ways to produce more stem cells so they can be available in greater quantities to researchers. Embryonic stem cells are thought to be especially useful to medical science because they can be manipulated to become any type of body cell. Scientists hope to use these cells to create replacement tissues to treat a variety of diseases, such as diabetes, Parkinson’s, spinal cord injuries and Alzheimer’s disease. 35 Brownback/Brown Amendment to FDA Appropriations Bill (H.R. 2997 & 740) Passes! “The beginning of treatment requires knowing that you are sick.” Francis Collins (before becoming NIH director) talked with Sen. Brownback (R-KS) regarding rare and neglected disease regulation that led to an amendment sponsored by Sen. Brownback and Sen. Brown (D-OH) to the 2010 FDA appropriation bill. The amendment directs the FDA to assemble a team to evaluate various aspects of the regulatory process for rare and neglected diseases and provide a report to the commissioner. This is a great gift to our efforts this year and we were happy to discover this amendment had been submitted and approved by unanimous consent. The amendment went to the Conference Committee in which the differences between the House and Senate Appropriations bills are ironed out. The House bill did not have the same amendment and the Conference Committee must decide what stays and what goes out of the bill to reach a consensus bill. The committee met last week, and the Brownback/Brown amendment was retained in the bill. The language was strengthened to say that the FDA “shall,” not just “may,” put these review groups together to evaluate their policies around rare diseases. This amendment is a first step toward establishing what the problems are and what changes are needed at the FDA for rare and neglected diseases. This works well with our goal to create science- Legislative Update | January 2010 based changes to public policy around rare diseases. If the group is able to better define the problems, we can set the agency and regulatory process down a path of improvement. To be able to CureTheProcess, we have to detail how the process is sick, and getting a group to clearly define that within the FDA is a step toward treatment and recovery. The amendment is saying, “Call a doctor.” We would hope to help with the diagnosis. The passage of the Brownback/Brown amendment is an important step forward and an important first success for our CureTheProcess campaign. We look forward to working with the FDA and others on scientifically sound improvements to regulatory policy.

-- by Emil Kakkis, president, Kakkis EveryLife Foundation

FDA Launches Orphan Drug Workshops The FDA announced the launch of an orphan drug workshop series—an opportunity for academics, biotechnology companies and larger pharmaceutical firms to spend two days creating applications for orphan status designation under the guidance of staff from the FDA’s Office of Orphan Products Development (OOPD). The first successful workshop was held in February; the second will take place this August. The intent is to simplify and demystify entry into orphan drug development. There will be an introductory lecture, but most of the time during the two-day period will be spent writing an application for orphan designation for specific products, which will be submitted at the close of the workshop. Having a product designated an “orphan” provides important incentives and can be done at any time prior to submission of a marketing application. Applying for orphan designation requires convincing the FDA OOPD that the proposed drug is for a rare disease (one with a patient population of fewer than 200,000 people) and holds promise for treating the rare disease.

Legislative Committee Member Austin Noll addresses the membership at the legislative workshop recently held at the Society’s 2009 Disney Family Conference.

MPS Added to Social Security’s Compassionate Allowances Program, see page 10 for more details 36 NIH Appoints Director of National Human Genome 2010 Legislative Update | January Research Institute Francis S. Collins, MD, PhD, director of the NIH, recently announced the appointment of Eric D. Green, MD, PhD, as director of the National Human Genome Research Institute (NHGRI), one of the 27 institutes and centers that comprise the NIH. “Dr. Green is the perfect choice to be NHGRI director. He grew up professionally with the genome era and has been on the cutting edge of genomics research for more than two decades,” Dr. Collins said. “As NHGRI scientific director, Dr. Green has overseen spectacular growth and diversification of the institute’s intramural research program. Some of his notable contributions include founding and ably directing for more than a decade the NIH Intramural Sequencing Center, establishing the Social and Behavioral Research Branch, and the NIH Center for Research on Genomics and Global Health, and helping to launch innovative programs such as the Undiagnosed Diseases Program.”

NIH gets $1 bil boost in 2011 budget A $1 billion boost for the National Institutes of Health (NIH) announced in the 2011 budget this morning (Feb. 1) has quelled fears that U.S. President Barack Obama’s proposed non-security discretionary spending freeze would decrease budgets at federal science agencies. Numbers released from the White House’s Office of Management and Budget (OMB) tell of slight increases in the budgets of the NIH, the Department of Energy’s (DOE) Office of Science, and the National Science Foundation (NSF). Obama requested $32.1 billion for the NIH in 2011, calling for the agency to “Initiate 30 new drug trials in 2011, and double the number of novel compounds in Phase 1–3 clinical trials by 2016,” according to information from OMB. The president requested—and got—$30.8 billion for the NIH last year. Overall, Obama requested $81.3 billion for all of the Department of Health and Human Services in 2011, an increase of almost $2 billion over the $79.6 billion HHS got in last year’s final budget. The DOE’s Office of Science stands to get $5.1 billion in the president’s budget, $1.8 billion of which would go toward basic research into new ways to produce, store, and use energy. The NSF would get $7.4 billion in 2011, a nearly 8 percent increase over its budget of just under $7 billion last year. Though the president’s budget drops the budget of the U.S. Department of Agriculture by $1 billion, it requests $429 million for competitive research grants through the U.S. Department of Agriculture’s Agriculture and Food Research Initiative. If this figure survives Congress, it would be the highest funding level ever for the program. This article was reprinted from thescientist.com. Posted by Bob Grant, Feb. 1, 2010.

Kim Whitecotton, Legislative Committee member, at the Policy with Partners (PwP) display at the 2009 Disney Family Conference with Tammy Dean and her daughter Amanda (MPS VI). Issues we advocate for include increased funding for MPS research to the National Institutes of Health, Medicaid and Social Security Income, respite care, special education and other legislation that affects our lives on a daily basis. If you are willing to spend a few minutes advocating for your loved ones with MPS we urge you to join PwP by contacting any of the Legislative Committee members.

37 Let’s Give a Standing Ovation To… The Standing Ovation Award is intended to honor amazing people in our MPS family for their resilience, courage, tenacity and passion for life while facing the many challenges of having MPS. This award was created by Denise Dengel, an adult with MPS I, who knows the daily struggles of living with MPS and envisioned an award to honor the individuals who also battle MPS each and every day. We give a standing ovation to:

Alicia Hemingway, MPS I, age 23, Shelburne Falls, MA

Tyler Trahan, MPS II, age 3, Tomball, TX Standing Ovation Max Goodell, MPS III Max is the happy little boy with the big smile whom everyone knows. He loves kids, dogs and horses. He loves to smile at people and loves to receive smiles in response. He loves to hold hands.

Max is 8 years old. It’s winter in Wyoming now, and we go skiing and sledding. Max is a good little skier. Mostly, though, he loves the gear. Skis, boots, poles…all that stuff. It’s so much fun. Skis can be thrown on the ground, stepped on, kicked; we don’t even have to ski on them to have fun. And now Carly, Max’s service dog, rides the ski lift with him, and loves running down the slope beside him. That makes us laugh.

At school and around town, Max and Carly are famous. For Halloween last fall they dressed up as Charlie Brown and Snoopy. Everyone says “hi” to Max, calls him by name and gets a big smile in response. He seems to spread joy. Sometimes we think this is his job. Everyone wants a smile or a high-five from Max. But our favorite things are those that make him laugh. When something is funny, Max knows how to laugh. He went to a junior high friend’s basketball game, sat in the front row, and laughed and laughed. Watching all those kids running around, chasing the ball, chasing each other…that was funny. It’s contagious. We had never really realized just how funny basketball is.

But he’s not a jester. He looks at the world very seriously, too; he tries to figure it out. And when he turns that gaze on us, he melts us. There’s not a lot of affection anymore. He’s mostly lost interest in hugs, and in kisses on the nose. But connecting with those eyes is enough.

38 Kaitlyn Evie, MPS IV Standing Ovation My name is Kaitlyn Evie, and I am 3½ years old. I will be a big sister this summer and I am so excited. I don’t know if I’m having a brother or sister yet, but I know that being a big sister is an important job so I’m practicing with my dollies. I hope I have a little sister!

I go to preschool now. My teachers say I get along with everyone in my class, even the boys! I pick my own clothes out every morning and I’m getting really good at it because I’m a big girl now. I do lots of things by myself now. Sometimes it’s hard to do something all by myself, but my mommy tells me to keep trying. When I finally do it all by myself I feel so good!

My favorite things to do are dance and sing like a princess, make artwork to show daddy, play with my friends, eat cheese-flavored Pringles, tell stories and play with my dog, Buzz.

Jeffrey Figueroa, MPS VI Jeffrey has his infusions at the hospital and loves playing with and talking to the nurses. For the first hour of the infusion he jumps continually in his cradle and talks to everyone who comes into the infusion center, both patients and staff. He says a friendly “hola” to everyone as they enter and a “bye bye” as people leave the room. For the second hour of the infusion he usually falls asleep after so much activity. For the third hour he eats—typically macaroni and cheese (his favorite food), meat and fruit. For the last hour, he resumes socializing with everyone in the infusion center until it’s time to leave.

Jeffrey never stops moving. Friends and family say he’s had a can of Red Bull because he’s so active—opening all the drawers in the kitchen, removing all the silverware, moving furniture and running everywhere. His mother is the one who needs a nap in the afternoon.

Jeffrey loves dancing and singing to Michael Jackson. His favorite TV shows are Sponge Bob and Diego. He loves to sing along with the Sponge Bob theme song. What Jeffrey hates most is the word “no.” He’s very active and inquisitive and doesn’t like to be held back. One of the therapists he’s working with said he was VERY smart. His mom showed him a photograph of 30 people and he was able to point out his mother in the picture.

39 Teddy Andrews, VII “Out beyond ideas…there is a field. I’ll meet you there. When the soul lies down in that grass, the world is too full to talk about.” – Rumi That’s when everyone will KNOW what my life is about, because it’s real hard to describe when my body and senses don’t work so well anymore. If it wasn’t for my Chief Angel, my mom, I wouldn’t be turning 30 years old this June. That is my greatest accomplishment!

Standing Ovation When I was younger I rode horses and earned VIP and a gold metal in jumping for equestrian Special Olympics. I was honored to be poster boy with Patrick Duffy for a local charity horseshow, as well having my picture with a pony on the 4-H Hearts brochure. I also enjoyed running in Special Olympics and eventually wheelchair races. When I was a kid I had various rabbits and chickens. I would take the baby rabbits in my scooter basket to neighborhood stores and sell them. I loved to watch and listen to the chickens and throw food to them. I helped collect eggs and even sold some of them. But most of all I loved my poodle named Lassie. Another accomplishment was my commencement from San Marcos High School Special Ed on June 14, 2001. I wheeled myself across the stage. My mom, aunt, cousin and even my cousin from Hawaii all cheered me on. I have always liked to be around people. Due to my recent hydrochephalus it’s hard for me to talk, so I like to “people watch.” I love people. They give me lots of energy. But my greatest passion, my main mission in life for which I’m known far and wide, is collecting soda cans and recycling them. They call me “the can man.” Everybody in the county helps me collect them. They toss bags of them into our yard. I cruise the ally behind our house and my mom has special baskets hung for people to put their cans in for me. I’ve had a lot of surgeries that my mom and the medical people always told me how much courage I had. I never cried. Where the courage came from I’m not sure; I think it must be a God-given thing. I have a painting of a wild and free Lipizzan running that faces my bed in my room, it reads: “For God has not given us a spirit of fear; but of power, and of love and of a sound mind.” II Timothy 1:7

Autumn Tobey, ML My name is Autumn Tobey and I am 33 years old. I was diagnosed with ML III at age 17, after being misdiagnosed for 10 years. I am the only known case of ML in Arkansas were I was born and raised and still reside. My school years were very challenging for me because of all the surgeries I had to have. On Feb. 10 I had my 10th surgical procedure. One of my greatest accomplishments was when I graduated from college in 2004. For the last few years I have lived with my sister and our two Shih Tzu’s, Sam and Max. My dog Sam only has one eye and my sister’s dog Max was badly burned in a fire in 2003. They are so much fun to watch and they love everybody. They are very good company for me since I am unable to work. I like reading, watching TV and spending time with my family. Even though ML has caused me a lot of pain it also has made me a stronger person. It has helped me deal with life’s ups and downs and to have greater compassion for others who are truly suffering. 40 Logo Order Form Show Your Support! Order MPS logo merchandise

100% of proceeds directly fund Family Support Programs

Screen Print Short-sleeve T-Shirts “Someone I Love Needs a Cure” Men’s Short-sleeve: white or ash gray $15; purple $18; Sizes: S, M, L, XL, XXL, XXXL Ladies’ Short-sleeve: white or ash gray $15; purple $18; Sizes: S, M, L, XL, XXL, XXXL Youth Short-sleeve: white or ash gray $10; purple $12; Sizes: S, M, L

Screen Print Long-sleeve T-Shirts “Someone I Love Needs a Cure” Men’s Long-sleeve: white or ash gray $20; purple $22; Sizes: S, M, L, XL, XXL, XXXL Ladies’ Long-sleeve: white or ash gray $20; purple $22; Sizes: S, M, L, XL, XXL, XXXL Youth Long-sleeve: white or ash gray $15; purple $18; Sizes: S, M, L

Polo Shirts 100% cotton pique Men’s Polos: white, ash gray, black, purple; Sizes: S, M, L, XL = $25; XXL = $27; XXXL = $29 Ladies’ Polos: white, black, pink, purple; Sizes: XS, S, M, L, XL = $25; XXL = $27; 1X = $27; 2X = $29

T-Shirts Heavyweight 50/50 poly/cotton blend Colors: white, black, ash gray, pink Youth sizes: XS (2-4), S (6-8), M (10-12), L (14-16) = $14 Adult sizes: S, M, L, XL = $15; XXL = $17; XXXL = $19

Hoodies Heavyweight 50/50 poly/cotton blend Colors: purple, black, heather gray, navy, white Youth sizes: XS (2-4), S (6-8), M (10-12), L (14-16) = $23 Adult sizes: S, M, L, XL = $29; XXL = $31; XXXL = $33

Sweatpants Heavyweight 50/50 poly/cotton blend; elastic cuff and waistband **Youth sizes only** Colors: black, heather gray, navy, white Youth sizes: XS (2-4), S (6-8), M (10-12), L (14-16) = $14

Fleece Jackets Men’s Jackets: midnight heather, black; Sizes: XS, S, M, L, XL = $35; XXL = $37; XXXL = $39 Ladies’ Jackets: light pink, black, midnight heather; Sizes: XS, S, M, L, XL = $35; XXL = $37; 1X = $39; 2X = $39

Fleece Vests Men’s Vest: stone, midnight heather, gray heather, black; Sizes: XS, S, M, L, XL = $30; XXL = $32; XXXL = $34 Ladies’ Vest: light pink, black, midnight heather; Sizes: XS, S, M, L, XL = $30; XXL = $32; 1X = $34; 2X = $36 Youth Vest: black, grey heather, midnight heather, light pink; Sizes: XS (2-4), S (6-8), M (10-12), L (14-16) = $30

All-Season Jackets Waterproof 100% nylon shell with micro-fleece body lining Color: black with chrome Men’s jacket sizes: XS, S, M, L, XL = $60; XXL = $62; XXXL = $64 Ladies’ jackets sizes: XS, S, M, L, XL = $60; XXL = $62; 1X = $64; 2X = $64

Hats Contact Laurie Turner Ball caps: Adjustable back, low-crown hats. Black, white, khaki = $15 at [email protected] Bucket hats: black, white, khaki = $20 with questions about Knit beanie caps: black, white, gray, pink = $12 MPS logo merchandise. Fleece Blanket with Carry Strap 50" x 60"; 100% polyester fleece Thank you for your order. Colors: purple, pink, royal blue, black = $23

Backpack Color: black = $20

Laptop Bag OGIO Jack Pack offset ingenious features, including an airline ticket pocket, oversized and padded laptop sleeve, and lots of extra zippered pockets for superior organization. Fits most 15" laptops. Dimensions: 14"h x 17"w x 5"d; 1,050 cubic inches. Color: black = $60 41 MPS Logo Items Order Form

Purchased By:______Please print clearly!

Name______Ship to: (If different than Purchased By) Address______Daytime Phone______Evening Phone______E-mail Address______

color ADULT child SPECIAL LETTERING PRICE total ITEM DESCRIPTION QTY choice SIZE SIZE INSTRUCTIONS – PRINT EACH EACH

ITEM TOTAL S&H

TOTAL AMT. DUE

Shipping and Handling Charges Make check or money order payable to: NATIONAL MPS SOCIETY, INC. # Items S&H Charge Mail payment and Big Stitch Embroidery 1-2: $9.00 order form to: 1730 E. Elliot 3-5: $11.00 Suite 8 6-8: $13.00 Tempe, AZ 85284 9-10: $15.00 11 or more: $17.00 PLEASE ADD APPROPRIATE SHIPPING & HANDLING TO YOUR ORDER. Questions? Contact [email protected] You may need to use multiple lines on this order form to complete this order! Thank you for your purchase! If you choose to add special lettering to your logo item, please print exact lettering 100% of proceeds go to the National MPS Society’s Family Support Committee. you want on the order form. Special lettering is not available on screen printed items. Please allow at least three weeks for delivery. MPS III patients needed for research study Research News: Hope for the Future This research project will focus on how the immune system is affected in patients with MPS III A or B. A blood test will be done to measure blood cell count. To participate, patients must:

• be less than or exactly 20 years of age with a confirmed diagnosis of MPS III A or B

• not use medications that suppress the immune system at time of enrollment

• not have respiratory, urinary or other infections at the time of enrollment The study will take place at your local healthcare provider’s office or at The Research Institute at Nationwide Children’s Hospital, Columbus, OH. For more information and to make an appointment, contact Chelsea Rankin at 614.355.2897 or [email protected].

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, at 612.624.4459 or [email protected].

MPS II and MPS VI patients needed for research study A research study to better understand the brain basis for learning difficulties sometimes found in MPS II and VI is being conducted at the University of Minnesota. Individuals must be over the age of 6 and under 35 and able to cooperate in an MRI imaging study without any sedation. The goal in studying the central nervous system is to better understand the brain changes in MPS disorders to find better ways of treating these problems. The MPS I portion of this study has been completed. Contact Dr. Elsa Shapiro at 612.625.1618 ([email protected]) or Dr. Kate Delaney at 612.625.1143 ([email protected]) for more information.

Surrogate Endpoint Trial (SET) for individuals with MPS III A Sponsored by Shire Human Genetic Therapies SET is a one-year, multi-center study designed to study the natural progression of Sanfilippo A syndrome, or MPS III A, in approximately 20 patients. During a period of 12 months participants in the study will be evaluated to assess the severity and progression of MPS III A, as measured by developmental age and milestones, central nervous system function (including cognition, speech and motor skills) and biochemical markers of the condition (levels of heparan sulfate and its breakdown products in blood urine and cerebrospinal fluid). Additional information can be found at www.clinicaltrials.gov (identifier NCT01047306), or contact: Shire HGT Medical Information, 484.595.8850, [email protected] or Amy K. Fisher, MS, CGC, Shire HGT Global Medical Affairs, at 857.413.9553 or [email protected].

43 Clinical Trials MPS I Intrathecal Enzyme MPS I Replacement Clinical Trial for MPS I Intrathecal Enzyme Spinal Cord Compression Replacement Clinical Trial for The Los Angeles Biomedical Research Institute Cognitive Decline at Harbor-UCLA Medical Center in Torrance, The Los Angeles Biomedical Research Institute at CA, is conducting a study of intrathecal enzyme Harbor-UCLA Medical Center in Torrance, CA, replacement therapy (ERT) for spinal cord and the University of Minnesota are collaborating compression in patients with MPS I. on a study of intrathecal enzyme replacement The purpose of this research study is to find out therapy (ERT) for cognitive decline in patients whether giving ERT (with Aldurazyme®) as an with MPS I. injection directly into the spinal canal (called The purpose of this research study is to find intrathecal injection) can help reduce spinal out whether giving ERT with Aldurazyme® as cord compression due to MPS I and can provide an injection directly into the cerebral spinal an alternative to surgery. fluid (the fluid around the spinal cord and the To be eligible for this study, you or your child brain) can stabilize (keep from getting worse) must be willing and able to comply with the study or improve cognitive decline in patients who procedures and meet certain criteria: have MPS I. The term “cognitive decline” refers Research News: Hope for the Future to a change for the worse in our ability to think • 8 years of age or older and learn. Difficulty with thinking, memory, • diagnosed with MPS I language, concentration and decision making • diagnosed with spinal cord compression are some signs of cognitive decline. Study participants will have: To be eligible for this study, you or your child must be willing and able to comply with the study • up to 16 intrathecal ERT treatments given procedures and meet certain criteria: one to three months apart over one and a half years; and • 6 years of age or older • physical examinations (general and • diagnosed with MPS I neurological); • show evidence of cognitive decline on a • other diagnostic tests; and screening evaluation • reimbursement/payment of travel expenses. Study participants will have: Study centers other than at Harbor-UCLA may be • up to 10 treatments given one to three months available. apart over two years (treatment group) or four treatments given three months apart Additional details about this clinical trial can beginning at month 12 (control group); be found at www.clinicaltrials.gov; search under • physical examinations (general and “mucopolysaccharidosis.” neurological); If you are interested in this study or would like • neuropsychological testing for cognitive more information, contact: decline and MRI of the brain; and Dr. Patricia Dickson • reimbursement/payment of travel expenses. 310.781.1399 [email protected] Additional details about this clinical trial can be found at www.clinicaltrials.gov; search under “mucopolysaccharidosis.” MPS II If you are interested in this study or would like more information, contact: MPS II Intrathecal Enzyme Replacement Clinical Trial Dr. Agnes Chen or Dr. Patricia Dickson Shire Human Genetic Therapies is sponsoring a 310.222.4160 or 310.222.4145 clinical trial at the University of North Carolina [email protected] or [email protected] at Chapel Hill to learn if direct administration

44 continued Research News: Hope for the Future 45

. www.shire.com -acetylgalactosamine -acetylgalactosamine N . MPS VII MPS A gene therapy clinical trial for MPS VII, known as also Sly syndrome, has been put on data. hold additional pending II/III ML There currently are no programs in II/III. ML for options treatment place developing for 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 BioMarin clinical I/II phase Pharmaceutical a of Inc. initiation the announced 2009, 21, April on trial for treatment the for intended BMN-110 (GALNS), 6-sulfatase or of MPS IV A, or company expects to Morquio report initial results A in the syndrome. The 2010. of half first The phase I/II study is designed label, as an within-patient treatment open- a by followed dose patients 20 approximately escalation trial in enrolled be to patients in All phase. continuation the study have already been identified. During the dose escalation phase of the study, subjects will receive weekly BMN-110 intravenous in three consecutive infusions 12-week dosing of intervals. The objectives of the phase I/II study will be to pharmacodynamics and evaluate to identify the safety, optimal pharmacokinetics, studies. future for GALNS of dose BioMarin also will be Clinical conducting Assessment a Program Morquio or MorCAP will that involve about 15 centers in many countries and will evaluate patients globally. Finally the they expect to disease have a phase III double-blind situation placebo controlled study for that might include 50–100 patients from many centers. Being in phase the in being of chances the patient’s a improve MorCAP program will III. Additional information can www.morquioBMRN.com be found at

II Low ® ,” ,” said Joseph Muenzer, MD, TM intrathecal implantable access system TM 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 clinical This open-label, design. three-dose control a trial and patients) study (12 group treatment group (four study after enzyme patients) intrathecal receive to eligible group with the control a six-month observational period. The monthly intrathecal administration will of be given idursulfase-IT using a Port-A-Cath Currently Currently there is treating no the brain approved and therapy spinal cord with for the in severe form of MPS II. patients 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 form cord of iduronate-2-sulfatase has not been used before in patients with investigational. It has not MPS been approved by the II and agency. regulatory other any or FDA is considered PhD, principal investigator for the clinical trial. clinical the for investigator principal PhD, Profile of 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 administration study with via an of intrathecal drug delivery idursulfase device in pediatric patients with demonstrate evidence of MPS central nervous system II who involvement and who are receiving with treatment Elapraise If If you information are about interested the contact Dr. Joseph Muenzer in at clinical 919.966.1447 or trial, obtaining the please study more coordinator, Heather Preiss, Carolina of North University at the RN, 919.843.5731 at NC. Hill, Chapel at To be To eligible for the investigational intrathecal enzyme replacement clinical trial, study patients needs to have some developmental delay, cannot be but severely impaired, have received and tolerated a minimum of six hearing adequate have months and Elapraise of intravenous weekly (with or without developmental hearing assessments. aids) Patients with to MPS II complete are not eligible if they have a treatment shunt for of the hydrocephalus, have had a blood or bone marrow transplant cord or have other individual the place may that conditions medical at an increased risk during the trial. clinical investigational manufactured manufactured by Smiths Medical MD, Inc. (St. implantation. surgical requires that MN) Paul, Treatment Therapies Genetic Therapies (formerly TKT), and is given MPS I as weekly infusions to replace the missing enzyme Aldurazyme®, administered once-weekly, has that Hunter syndrome patients fail to produce in been approved in the United States and in 15 sufficient quantities. countries of the European Union for long-term Additional information can be obtained at enzyme replacement therapy (ERT) in patients www.shire.com or by contacting OnePathSM with a confirmed diagnosis of MPS I, to treat the toll-free at 866.888.0660. OnePath provides non-neurological manifestations of the disease. assistance with insurance, product access, Aldurazyme was developed by BioMarin and treatment centers and education about Elaprase Genzyme under a joint venture agreement that and MPS II. assigns commercial manufacturing responsibilities to BioMarin, and worldwide sales and marketing responsibilities to Genzyme. MPS VI Additional information can be obtained at Naglazyme™ is the ERT for individuals with a www.aldurazyme.com or by contacting Genzyme confirmed diagnosis of MPS VI and has been at 800.745.4447. approved for use in the United States and in many European countries. Developed and produced by BioMarin Pharmaceutical, Inc., MPS II Naglazyme has been shown to improve walking Research News: Hope for the Future ElapraseTM is a long-term ERT for patients with and stair-climbing capacity. a confirmed diagnosis of MPS II which has been For more information, contact BioMarin Patient approved for use in the United States, Canada and Physician Support at 866.906.6100 or and many countries in Europe. Elaprase was [email protected]. developed and is produced by Shire Human

National MPS Society Research Program The National MPS Society exists to find cures for MPS and related diseases. We provide hope and support for affected individuals and their families through research, advocacy and awareness of these devastating diseases. We are committed to funding researchers who are dedicated to developing the cures. For many years the Society has awarded fellowships to aspiring young researchers. Funding is provided through research donations received from our members and supporters. In recent years the Society has significantly increased research funding. continued

46 Research News: Hope for the Future 47

continued Dr. Yoshio Nishimura Yoshio Dr. “Substrate deprivation therapy for MPS: iminosugar inhibitors of sulfotransferase” total $50,000, MPS III grant in grant, Two-year honor of Mitchell Stump Japan Tokyo, Institute of Microbial Chemistry, $2.8 million in research dollars (see graph on previous page). We are very grateful to 2001 Anne Hennig Dr. gene therapy vector to perform gene in utero “AAV therapy in MPS VII mice” total $50,000, general research grant, Two-year funds University School of Medicine, Washington St. Louis, MO NATIONAL MPS SOCIETY GRANTS AWARDED NATIONAL Recent advances in research have led to treatments for some of the MPS diseases and the promise of treatments for others. We remain committed in our support of this critical research to identify treatments and ultimately cures. The National MPS Society is unique among rare disease support groups in that we support Our research philosophy thatdiseases, each the of which is many defined by a specific enzyme deficiency. treatment or cure developed for one disease can benefit the other MPS diseases also applies to the general category of LDs. In 2004 we joined with other lysosomal disease (LD) support groups to form the Lysosomal Storage Disease Research Consortium (LSDRC). The LSDRC improve CNS treatments for LDs. The LSDRC entered an focus agreement with the National Institute of is on funding research Neurological Disorders and to Stroke for the purpose findof a jointly or sponsored program, researchers, CNS 13 to Therapy allocated was $390,000 of Funding Disorders. Storage Lysosomal for Development National Institute of Health grants. four of whom subsequently received Over the years the stretches program This project. research Society a fund to group advocacy disease lysosomal has a or foundation funded Partnership Grants, where we our join research dollars and provides the with researcher with additional funds a to advance their project. private It MPS also ensures that our research money does not languish in the bank, waiting for the funds required to offer a grant. Funded researchers are required to submit a yearly review of their research and site. financial are included in Courage and also on our Web Grants awarded and the research reviews report. The list of grants offered and a request for a three-page letter of intent is e-mailed to around researchers the world each February and posted on our site. Web The letters of intent are reviewed proposal. by complete a submit to asked be will researchers which determine who SAB, our of members The SAB committee reviews the proposals and recommends to the board of directors the grants to are approved by the board of directors. be funded. The final funding decisions the run organizers, the supporting families and all the donors. During this same period of time, At the beginning of each fiscal year the board of directors sets the budget and assesses the amount categories. research syndrome-specific and research general the both in available money research of Input from our Scientific Advisory Board (SAB) helps determine the focus of the grants. Based on the recommendations of the SAB, the Society over the years has focused on central nervous system (CNS) research, bone and joint research, and general research. Offering general research grants encourages innovative treatments that can benefit all the MPS diseases. Historically, the Society’s research grants are offered for two years. Grants are only awarded when money for the life of the grant is “in the bank.” In 2000 the Society launched generated have the walk/runs the decade last the In annual $100,000. raised runs seven 5k year, first The program. walk/runs with proceeds allocated to our research more than $3.17 million has been awarded in research grants, with an additional $439,000 to be awarded 2010. in Money for research is received from the walk/run program and from individual and family donations fundraisers that are allocated for research. Donations for research can be allocated for for syndrome-specific research. general research or Mark S. Sands, PhD Elena Aronovich, PhD “Human hematopoietic stem cell-directed gene “Sleeping Beauty transposon-mediated gene therapy therapy in a murine xenotransplantation model of for MPS I” mucopolysaccharidosis VII” Two-year grant, total $60,000; $30,000 from Two-year grant, total $50,000, general research general research funds, $30,000 from MPS I funds research funds Washington University School of Medicine, Pediatrics and Institute of Human Genetics, St. Louis, MO Minneapolis, MN

Mark E. Haskins, VMD, PhD Judith Ogilvie, PhD “Develop a canine model of MPS III B” “Intravitreol gene therapy in MPS III B mice” Two-year grant, total $50,000, MPS III research Two-year grant, total $60,000; funded by an funds MPS III grant from the R. A. Bryan Foundation University of Pennsylvania, Department of Central Institute for the Deaf, St. Louis, MO Pathobiology, Philadelphia, PA Philippe Moullier, MD 2002 “Gene therapy in canine MPS III B” Two-year grant, total $60,000, from general Dr. Doug Brooks research funds “GGA proteins and I-Cell disease” CHU Hotel-Dieu, Nantes, France Two-year grant, total $60,000; $45,000 from Dr. Sharon Byers

Research News: Hope for the Future general research funds, $15,000 from ML research funds “Inhibition of GAG synthesis as a therapy for Lysosomal Diseases Research Unit, North MPS IV A and VI” Adelaide, Australia Two-year grant, total $60,000; $30,000 from general research funds, $30,000 from MPS IV Ms. Briony Gliddon research funds “Enzyme therapy in the CNS of MPS III A mice” Women’s and Children’s Hospital, North Two-year grant, total $60,000; $7,400 from Adelaide, Australia general research funds, $52,600 from MPS III research funds Calogera Simonaro, PhD Lysosomal Diseases Research Unit, North “Joint and bone disease in MPS VI” Adelaide, Australia Two-year grant, total $60,000; $30,000 from general research funds, $30,000 from MPS VI Dr. R. F. Wynn research funds “Autologous marrow stromal stem cells as a target of Sinai Medical Center, New York, NY genetic manipulation in the management of MPS II” Two-year grant, total $60,000; $35,000 from Urs Giger, DVM general research funds, $25,000 from MPS II “Pathological and molecular characterization of feline research funds mucolipidosis II - first model of human I-Cell” Manchester Children’s Hospitals, Manchester, Two-year grant, total $60,000 from general England research funds Medical Genetics, University of Pennsylvania, 2003 Philadelphia, PA

Mark Haskins, VMD, PhD John Hopwood, PhD “Evaluation of neonatal gene transfer in dogs and “Sleeping Beauty transgene vehicle — potential new cats with MPS” therapy for MPS III A” Partnership grant with the Ryan Foundation, One-year partnership grant with the Sanfilippo total $40,000 for one year; $35,000 from general syndrome medical research foundation, total research funds, $5,000 from MPS II research $40,000 from general research funds funds Women’s and Children’s Hospital, North University of Pennsylvania, Philadelphia, PA Adelaide, Australia

48 continued Research News: Hope for the Future 49 continued 2007 ISMRD Partnership ML Grant: $19,000 from ML research funds (funded in 2008) Mark Haskins Katherine Ponder and Dr. Dr. vector-mediated gene therapy for MPS I” “Retroviral Partnership one-year MPS I grant with Ryan Foundation: $19,000 from MPS I research funds Ponder), University (Dr. Washington St. Louis, MO 2006 general research funds LSDRC $60,000 from Joseph Muenzer Dr. therapy for mucopolysaccharidosis II” gene “AAV MPS II grant, total $120,000 from Two-year research funds Carolina, Chapel Hill, NC University of North MD, PhD Shunji Tomatsu, system “Development of a therapeutic bone-targeting for MPS” grant, total $80,000 from general Two-year research funds Department of Pediatrics, Associate Professor, St. Louis MO Saint Louis University, Brooks Doug Dr. for “Evaluation of enzyme enhancement therapy mucopolysaccharidosis III A” grant, total $90,000 from general Two-year research funds Hospital, North and Children’s Women’s Adelaide, Australia Pia Cosma Maria Dr. therapy of the Hunter syndrome gene “AAV-mediated in the MPS II mouse model” grant, total $80,000 from MPS II Two-year research funds Institute of Genetics & Medicine, Telethon Naples, Italy Dr. Sharon Byers Sharon Dr. of cartilagepathogenesis “The in degradation MPS VI” from general grant, total $100,000 Two-year funds research North of Genetic Medicine, Department Australia Adelaide, Dr. Calogera Simonaro Dr. of bone and joint disease “Pathogenesis and treatment in the mucopolysaccharidoses” total $100,000 from general grant, Two-year research funds NY Mt. Sinai School of Medicine, New York, Dr. Donald Anson Dr. “Lentiviral-mediated gene therapy for MPS III A” total $60,000 from MPS III grant, Two-year research funds Department of Genetic Medicine, North Adelaide, Australia Dr. Matthew Ellinwood Matthew Dr. to the CNS” “Therapy for MPS III B: Naglu targeting grant, total $60,000 from MPS III Two-year research funds Department of Animal Iowa State University, Science, Ames, IA 2005 Mark Sands, PhD “Characterization of the systemic inflammatory to lysosomal storage” response grant, total $60,000 from general Two-year research funds of Medicine, University School Washington St. Louis, MO Dr. Maria Pia Cosma Dr. II” “Gene therapy for MPS MPS II grant, total $60,000 from Two-year research funds Institute of Genetics & Medicine, Telethon Naples, Italy Elsa Shapiro, PhD Shapiro, Elsa Kendra Dr. for fellowship Neuropsychology Bjoraker $8,750 from training grant, total One-year funds general research Neuroscience, Pediatric Clinical Division of MN of MN, Minneapolis, University to targeted CNS LSDRC initiative dedicated total $170,000 from translational research, general research funds 2004 Dr. Alessandra Biffi Nicola Brunetti-Pierri, MD “Novel efficacious and safe gene therapy approaches “HDAd gene therapy for lysosomal storage disorders” for the treatment of MPS I” Two-year grant, total $65,000 from MPS II Two-year grant, total $100,000 from general research funds research funds Baylor College of Medicine, Houston, TX San Raffaele Telethon Institute for Gene Therapy, Milano, Italy Brett E. Crawford, PhD “Glycosaminoglycan inhibitors as substrate reduction Mark Haskins, VMD, PhD therapies for MPS II” “Lentiviral vector therapy for MPS VII” Two-year grant, total $65,000 from MPS II Two-year grant, total $100,000 from general research funds research funds Zacharon Pharmaceuticals Inc., La Jolla, CA University of Pennsylvania, Philadelphia, PA Dr. Andrea Ballabio Calogera Maria Simonaro, PhD “Modulation of autophagy as a potential therapeutic “Pathogenesis and treatment of the approach for MPS” mucopolysaccharidoses” Two-year partnership grant, total $60,000; Two-year grant, total $100,000 from general $30,000 from MPS III research funds, $15,000 research funds from Ben’s Dream Foundation and $15,000 Mount Sinai School of Medicine, New York, NY from the Children’s Medical Research Foundation Dr. Maria Fuller

Research News: Hope for the Future Telethon Institute of Genetics & Medicine, “Membrane microdomains and improved clinical Naples, Italy management for the mucopolysaccharidoses” Two-year grant, total $90,000 from MPS II funds Brian Bigger, PhD Lysosomal Diseases Research Unit, North “The effect of heparan sulphate on stem cell homing Adelaide, Australia and engraftment in MPS I” Two-year grant, total $60,000 from general Synthia H. Mellon, PhD research funds “Neurosteroid treatment of MPS III A” University of Manchester, Manchester, U.K. Two-year grant, total $80,000 from MPS III research funds Adriana M. Montano, PhD University of California, San Francisco, “Identification of genes for keratin sulfate biosynthesis: San Francisco, CA toward development of RNAi mediated therapy” Two-year grant, total $60,000 from general 2008 research funds Saint Louis University, St. Louis, MO Expert Newborn Screening meeting: $15,000 from general research funds Mark S. Sands, PhD “Metabolic adaptations and phenotypic consequences ISMRD partnership ML grant of blocking lysosomal recycling” (carry over from 2007) Two-year grant, total $60,000 from general Dr. Sara Cathey research funds “Natural history study for mucolipidosis” Washington University School of Medicine, One-year grant, $19,000 from ML funds St. Louis, MO Greenwood Genetic Center, Charleston, SC Marta Serafini, PhD Partnership Grant with International “Marrow mesenchymal stem cell therapy for MPS I” MPS Network Two-year grant, total $60,000 from general Prof. Grzegorz Wegrzyn research funds “Development of gene expression-targeted isoflavone STEMMPS Unit, Dulbecco Telethon Institute therapy for MPS III” at M. Tettamanti Research Center Clinica, One-year grant, $4,000 general research funds Monza, Italy University of Gdansk, Gdansk, Poland

50 continued Research News: Hope for the Future 51 Dr. Jeffrey Esko Jeffrey Dr. III A” for MPS strategy reduction “Substrate $26,500 from grant, total $80,000; Two-year from MPS III funds, $53,500 general research funds research La Jolla, CA California San Diego, University Fraldi Assessandro Dr. therapy gene AAV-mediated “Developing a systemic the blood-brain barrier the brain to cross and treat A” pathology in MPS III from grant, total $80,000; $26,500 Two-year $53,500 from MPS III general research funds, research funds of Genetics & Medicine, Institute Telethon Naples, Italy Katherine Ponder Dr. valve disease of cathepsin K in cardiac “The role in MPS” grant, total $80,000 from general Two-year research funds St. Louis, MO University, Washington Simonaro Calogera Dr. “Novel anti-inflammatorythe therapies for mucopolysaccharidoses” grant, total $80,000 from general Two-year research funds NY York, Mount Sinai School of Medicine, New Dr. Maria Pia Cosma Maria Dr. in MPS II mice: correction therapy “AAV2/5CMV-IDS IDS deliveryof CNS defects through the blood- across brain barrier” grant, total $80,000; $28,800 from Two-year MPS II general research funds, $51,200 from research funds Institute of Genetics & Medicine, Telethon Naples, Italy Lysosomal Disease Network grant activities” core “Neuroimaging research One-year grant, $25,000 from general funds Fund, Minnesota Medical Foundation LDN Minneapolis, MN Richard Steet, PhD Richard the cartilage of “Investigation ML II of pathogenesis and MPS” from general grant, total $60,000 Two-year funds research Foundation, of Georgia Research University Athens, GA Sara Cathey Dr. “Natural history for mucolipidosis” study ML Grant, $7,000 One-year ISMRD Partnership funds from ML research Charleston, SC Center, Grenwood Genetic 2009 52 Resources | Helpful Information [email protected]. visit information, more For adults withvariousdisabilities. morethan80,000 childrenandyoung fields (forsafety)and100 fields underconstruction.Itserves has more than 200 leagues across the country, as well as Puerto Rico, with 100 specialized rubberized League Miracle The participate. can legs or arms their of use the without children Even etc. bases, baseball. Players are paired up with a buddy and The MiracleLeagueisanorganizationthataffordschildren withdisabilitiestheopportunitytoplay The MiracleLeague more information,visitwww.sickkids.ca/lysosomalresearchgroup. For diseases. metabolic genetic rare of characteristic with presenting patients manage and diagnose Hunter disease e-clinic is a virtual training clinic, designed specifically for the purpose of learning to Hunter diseasee-clinic makes writingeasierforkids therapy. ThenewWeb sitealsohasexpandedfeaturesandfunctionality. bu MS I is igoi ad ramn wt NAGLAZYME with treatment and diagnosis its VI, MPS about The new New NAGLAZYME.comWeb SiteUpandRunning Amazon forlessthan$2.00.Formoreinformation,visitwww.penagain.com/twistnwrite.html . and Max Office CVS, Depot, Office Walgreens, Staples, at sold being is It more). many and ADHD arthritis, tunnel, (carpal needs special with those for great is It position. “tripod” school-taught the fun in writing. A thick 2 mm pencil lead never needs sharpening. The wishbone shaped design forces The Twist ‘n Write pencil is a new model specifically designed to fit smaller hands and bring back the Twist ‘nWrite For moreinformationortoapplyforfunding,gowww.cerner.com/firsthand. in individuals 85,000 to million 66 countries. $10 distributed has Foundation Hand First the inception, Since the child’s immediatehealthcareprovider. and hospitals to directly distributed is Funding prices. listed below services their discount to providers equipment doctors, implores Foundation the Additionally, care. child’s a to related travel and The Foundation helps with clinical necessities (such as medication and surgeries), medical equipment related needswheninsuranceandotherfinancialresourceshavebeenexhausted. First Hand Foundation. A nonprofit organization, First Hand assists individual children with health- In 1995, Cerner Corporation, a leading supplier of healthcare information technology, founded the lives around theworld,onechildatatime First HandFoundationstrivestochangechildren’s NAGLAZYME.com is now live and available for you to visit. You will find expanded content TM PenagainPencil cl 707013, r ed n -al to e-mail an send or 770.760.1933, call www.miracleleague.com, has a chance to play—batting, running the everyone ® glufs) nye replacement enzyme (galsulfase)

Resources | Helpful Information MPS I Web site Aldurazyme® Web site www.MPSIdisease.com www.Aldurazyme.com A Web site has been developed by Genzyme to A Web site has been developed by Genzyme to provide parents and patients with information and provide parents and patients with information resources on MPS I. This site provides valuable on Aldurazyme. The site includes a link to information on the disease, diagnosis, on-going ask questions regarding MPS I or anything clinical trials, and other references and services else related to treatment. Feel free to use this available to patients. Visit www.MPSIdisease.com. mechanism to reach a healthcare professional at Genzyme who will respond to your query in a MPS I Registry timely manner. Visit www.Aldurazyme.com. Access to information is critical to providing the best care for patients with MPS I. However, MPS IV Registry information on the disease is limited because of www.morquio.com its rarity. A resource developed by Genzyme is Information about MPS IV can be found at now available for your physician or health care www.morquio.com. Also available at this Web site professional that is dedicated to improving the is the Morquio registry where adults with MPS IV understanding of MPS I. With the MPS I Registry, can register and families can register their child your physician can access your data and compare with MPS IV. Once registered, it is recommended it to aggregate data from around the world. Ask that updates be made at least yearly. This natural your physician to call 1.800.745.4447 ext. 17021 history information is critical for development for more information. of treatments for MPS IV, providing evidence of drug effectiveness and supporting the approval MPS II Web site of the drug. www.hunterpatients.com Shire HGT educational Web site focuses on MPS II MPS VI Community (Hunter syndrome). The site is a resource center Web site for the MPS II community to access information www.MPSVI.net about the genetics, diagnosis, and management Log into the first Web site devoted entirely to the of MPS II, as well as information about the drug MPS VI community and: development process. In addition, the Web site • Meet other people with MPS VI provides a comprehensive overview of MPS II, • Tell your story including resources for patients and healthcare • Chat in real time professionals, information on clinical trials and a • Search postings by topic patient outcomes survey, as well as the ability to Register for free to connect with your MPS VI stay informed as new information about MPS II community. becomes available on the site. Shire HGT expects to update and expand the site on a regular basis. MPS VI Web site www.MPSVI.com BioMarin’s Web site, www.MPSVI.com, is designed especially for individuals with MPS VI (Maroteaux-Lamy syndrome), their families, and for healthcare professionals who care for patients with MPS VI. This site provides education and information about MPS VI which may be helpful to share with family members, educators and healthcare providers.

53 Resources | Helpful Information 54 eea rs ifrain n ay at alerts past any issued aboutthedrug. and information risk general including site, Web FDA’s the on product the about information all to links with page” “core a has drug Each drugs. approved 200 than more on information presents page Web Information individual drug products. The new Drug Specific consumers with specific safety information about featurenewaddedaWebits toprovides sitethat The U.S. Food and Drug Administration (FDA) www.fda.gov/cder/drugSafety.htmhas SafetyDrug Information ain avct, al hi tl fe number free toll 1.866.906.6100. their call advocate, BPPS a patient contact To VI. MPS about companies be available in your state, and educate insurance on may that options information insurance healthcare potential provide coverage, insurance healthcare current can their evaluate (BPPS) families help program Patient healthcare Support BioMarin Physician with and The assist questions. to insurance designed service confidential and free a developed has BioMarin for MPSVI with InsuranceQuestions BioMarin Offers Help pre-existing with those health problems. for pools insurance health high-risk offer that states 32 lists also It Program. Insurance Children’sHealth State the and Medicaid as such residents, programs low-income for insurance health public of list state state-by- a provides Database Options Coverage Care Health The problems. health pre-existing have or jobs change who people and residents on health insurance options for low-income U.S. has created a database that provides information The National Association of Health Underwriters www.nahu.org/consumer/healthcare Coverage Options Health Care links to online resources. information about genetics in clear language and to Understanding Genetic Conditions,” with basic comprehensive“Guide a containssite Web This http://ghr.nlm.nih.gov/handbook Genetics HomeReference 866.888.0660 number: Toll-free ERT. to related issues other and insurance about questions address also can managers case OnePath can needs. and your anticipate you know to get also they resources; important OnePath many ERT. to access have with managers case associated concerns questions or any address case help will personal who a manager call assigned be you you’ll When OnePath, reimbursement. and coding understand ERT,to help pertaining coverage, issues complex the to center introduced support OnePath Therapies Genetic Human Shire www.hunterpatients.com forMPSII Support Shire HGTOffers 1.800.745.4447, MondaythroughFriday. call information, more For families. patients their and to counseling insurance one-on-one act as patient advocates and provide confidential and social workers, and free other health nurses, care a of team professionals a by staffed service is confidential Support Treatment Genzyme Counseling Families Insurance Support Offers MPS I Genzyme Treatment

Have an Extraordinary Experience Resources | Helpful Information The Family Support Committee is pleased to introduce Extraordinary Experiences, the newest Family Support program. Extraordinary Experiences was developed to help all of our unique and special children, regardless of their diagnosis or abilities, to create their own extraordinary experience. This program was developed specifically for individuals ages 14–24 diagnosed with MPS and related diseases. Grants of up to $1,000 are available for special camps, events, class trips and other unique opportunities. The Society will partner with the individual and his or her family to help cover registration fees and travel expenses, and other fees associated with his or her extraordinary experience. Extraordinary Experiences was initiated in response to a grant the National MPS Society received from BioMarin/Genzyme LLC to honor Spencer Holland (MPS I). Spencer was a pioneer and trailblazer for many individuals diagnosed with MPS. He and his sisters participated in clinical trials for enzyme replacement therapy. They openly shared their life experiences which inspired other children and adults affected with MPS. Spencer will always have a special place in our hearts. The National MPS Society thanks you, Spencer, and everyone with MPS and related diseases for being an inspiration to many. Special thanks to BioMarin/Genzyme LLC for this wonderful gift which will allow special young adults to have an extraordinary experience. More information about Extraordinary Experiences can be found at www.mpssociety.org or by contacting Laurie Turner at [email protected] or 207.843.7040.

Mini-Miracles Mini-Miracles is an adaptive clothing line designed for the special needs child. Their philosophy is to promote dignity, comfort and quality of life for every child, while giving back to the community by donating to local Canadian charities. Mini-Miracles clothing line consists of items chosen to meet the basic needs of the special needs child. They reflect the research and experience that the owner, pediatric special needs nurse Victoria Allen, has acquired working with special needs children. The clothing is made of the highest quality Peruvian cotton and has different options available for different needs (e.g., gastro-intestinal feeding tube access pocket, cut to fit diapers, etc.).

Featured adaptations: Suitable for: • Flat seams to reduce friction • Limited range of motion and impaired • Discrete adaptations so clothing looks normal dexterity • Easy access—snaps, Velcro, stretchy fabrics • G-tube feeding • Roomy seat to accommodate diapers (all ages) • Wheelchair • Longer rise in the back to accommodate • Cerebral Palsy sitting in a wheelchair • Muscular Dystrophy • Elastic waist for ease of dressing and • Developmental disabilities increased comfort • Contractures • Meets Health Canada regulations for safety • Toilet/changing needs and flammability • Catheters and colostomy bags • IV tubes • Rigidity

Visit www.minimiracles.ca for more information.

55 56 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. Jennifer Clarke MPS I parents Mark Sands, Ph.D. 186 Odd Road Kim Whitecotton Edward Schuchman, Ph.D. Poquoson, VA 23662 1413 Emigrant Way 757.868.7569 William Sly, M.D. Modesto, CA 95358 [email protected] Charles H. Vite, D.V.M. 209.544.2708 MPS III parent [email protected] Steven Walkley, D.V.M., Ph.D. Tom and Anne Gniazdowski MPS II parent David Wenger, Ph.D. 315 Meadowview Court Gordon Wingate Chester Whitley, M.D., Ph.D. Springboro, OH 45066 16319 Jordyn Lake John H. Wolfe, Ph.D. 937.748.8809 Tomball, TX 77377 Ed Wraith, M.D. [email protected] 832.498.1724 MPS II parents [email protected] MPS III parent President Emerita Marie Capobianco Steve Holland Mary Majure Couture Linda K. Shine NON-PROFIT ORG. National MPS Society U.S. POSTAGE PO Box 14686 PAID Durham, NC 27709-4686 CHAPEL HILL, NC PERMIT #74