SPRING 2012

courage Volume 36 | No. 1

08 23 34 41 43 Spring Register Legislative Research Co-pay Cleaning Now! Advocacy Progress Assistance Progresses New board 2012 conference New MPS III B Shire, Genzyme members bring registration Society hires natural history offer programs to fresh skills, now open strategic firm to study, MPS VII offset expenses perspectives advance objectives ERT The National MPS Society’s office (ground floor on left).

Do you have a personal story or an article idea for a future issue of Courage? Please write to us and remember to send photos! issue To submit information to Courage, please send text (preferably via e-mail) Spring to the address below. Photos should be labeled whenever possible. Please submission cutoff date note cutoff dates. Any information received after these dates will be January 1 included in the subsequent issue. issue Summer The articles in this newsletter are for informational purposes only, and do submission cutoff date not necessarily reflect the opinions of the National MPS Society and its April 1 board of directors. We do not endorse any of the medications, treatments or products reported in this newsletter, and strongly advise that you check issue Fall any drugs or treatments mentioned with your physician. submission cutoff date Courage reserves the right to edit content as necessary. July 1 issue Winter submission cutoff date October 1

National MPS Society PO Box 14686 / Durham, NC 27709-4686 t: 877.MPS.1001 / p: 919.806.0101 / f: 919.806.2055 e-mail: [email protected] / web: www.mpssociety.org TABLE OF contents 01

02 Letter from the President ON THE COVER 03 Letter from the Executive Director 04 Letter from the Development Director Jake Elston (MPS III) with siblings Hannah 04 Letter from the Program Director and Luke 05 Financial Summary 06 Board Minutes 08 New Board Members Joseph, Harly, Henry (MPS III), 10 Presidential Proclamation of Courage Melissa and 11 Fundraising News Haley Koker 20 Family News

23 Upcoming Events Kianna White 24 A Warm Welcome (MPS IV) 26 Holiday Photos 28 OSCAR Award 29 Remembering Our Children 30 Standing Ovation 32 Legislative Update 35 Making Headlines 37 Research News 43 Resources and Helpful Information 48 Donations 50 New Members 52 Classifications 53 Board of Directors

MISSION STATEMENT The National MPS Society exists to find cures for MPS and related diseases. We provide hope and support for affected individuals and their families through research, advocacy and awareness of these devastating diseases. LETTER FROM THE 02 president

The Society’s 2012 emphasis on everything NEW was highlighted in our New Year’s card and the beautiful picture Jack Frye drew. His mother, Kim, stumped several of us to recognize exactly what the picture is. Yes, it’s a beautiful butterfly, but what else do you see? (See answer below.) Our Education/Publicity Committee is developing an International MPS Day art contest where we will choose our 2013 New Year’s card picture. We are benefiting by the expertise our NEW board members bring to the Society through their professions and passions. It’s helpful to not just have them asking “Why?” but also providing suggestions and alternatives. This is an effective tactic for growth and reNEWal, and we’re seeing early signs of that within all our committees. We are always on the lookout for NEW committee members. Contact me if you’re interested in serving on a committee. My children have been involved in several clinical trials and they, along with Amy and I, know the commitment involved for everyone. Clinical trials allow NEW treatments to be tested to determine their efficacy before being rolled out as the new standard of care for MPS. Being part of a clinical trial often means months of traveling to the trial site, not knowing if you are getting the treatment drug or a placebo, and whether it is working or not. All the while, the travel and treatment schedule disrupts school, home and family life. Now I am not complaining, because the opportunity to participate is truly a gift. However, the commitment of patients and their families participating in these trials must be acknowledged. With the NEW MPS IV clinical trial and the upcoming MPS VII clinical trial, more of you have made this commitment. I thank you for participating and paving the way to treatments In 2011 one of our sister MPS for those yet to be diagnosed. It’s very special to be a pioneer. organizations learned that a former treasurer of that organization Over the years the Society has partnered with several family foundations to removed almost $140,000 from offer research grants. For the inaugural year of our NEW Grand Challenge their accounts. Questions may arise MPS III Grant, Team Sanfilippo is partnering with us by providing financial such as, “Can that happen to us?” support. I hope to continue our collaborative grant funding with Team We want to reassure our members Sanfilippo and other family foundations to further increase the total that the National MPS Society investments in cures for our children. I encourage you to read the Scientific has internal controls in place that Advisory Board’s (SAB) Future Directions Committee’s grant funding provide oversight for our finances so recommendations on our Web site. I am grateful for the expertise of our SAB not just one officer or staff member as they help direct the Society’s grant program, so our donors can be assured has responsibility for our various their research dollars are invested wisely. accounts. Many of these controls are It’s not too early to register for the Boston family conference and the NEW required by our auditors and others events offered. Boston is a beautiful historic city, and we’re excited to be back have been initiated by the board. If in the Northeast. you have questions, please contact one of our board or staff members Have you figured out that picture yet? Well if you look closely, you will see for more information. that the outline of the butterfly’s wings are formed by two sweet MPS hands— those of Jack Frye (MPS II)! r

Steve Holland LETTER FROM THE executive director 03

I’m not sure I remember a new year that began with so many new initiatives for the Society. All of us in the Society’s office are busy jumping from one project to another, many of them you’ll read about in this edition of Courage. Speaking of Courage, did you notice its fresh new look, color cover and color holiday photos? There’s more: The electronic edition of Courage is in full color! Even if you don’t receive an electronic edition, you can download it from the Members’ Only section of our Web site.

I’d like to welcome our new board that Angela is a certified public Society will be offering a $235,000 members: Dawn Checrallah, Lisa accountant and served as treasurer, MPS III “Grand Challenge Grant” Todd and Roy Zeighami. You can therefore she is knowledgeable in 2012 with support from Team read about them, their families about our policies and database. Sanfilippo, to support an MPS III and their goals on page 8. Having attended our November board On the legislative front, we meeting, they eagerly began their submitted in January the committee work in January and nomination form for MPS I to the were active participants in our Health Resources and Services February board meeting. Stephanie Administration Secretary’s Advisory Bozarth began her tenure as vice Committee on Heritable Disorders president and is the new chair of in Newborns and Children. the Legislative Committee. Kim This is the first step—and the Whitecotton is the new chair of the first MPS disease nominated for Education/Publicity Committee. approval—to the list of newborn Thanks to a generous anonymous screening diseases. In addition, donation, the board approved M+R Strategic Services began clinical trial, or to study either a a new family support program, working with the Society’s legislative therapy or a biomarker that has the Emergency Relief Program advocacy program. The work of passed the proof of concept stage (see page 43). the Legislative Committee has but requires further pre-clinical become too extensive for our or clinical testing. This grant is in Bruce Makous, a professional volunteer committee, and rather addition to MPS II and MPS IV fundraiser and planned giving than hiring a new staff person, the grants. specialist, spoke at our February board elected to initially utilize a board meeting about planned consulting group. After talking with We have been working on the three giving—our latest fundraising our key stakeholders and receiving upcoming 2012 conferences— program. Mr. Makous discussed proposals from several consulting family, CYCLE and SPIRIT—that how we can take this program not groups, Ernie Dummann, Steve will be held in Boston in July. only to our membership, but to Holland and I talked with each of Registration materials have been our communities. the groups. We feel M+R is best mailed and are on our Web site. suited to move the work of the Society I encourage you to register early Angela Guajardo retired as board forward. You’ll be hearing from for the conferences and the hotel. member in December, then began them and the new programs we We are expecting this to be a big her new staff position in January as have planned throughout the year. conference. I hope to see you in part-time accountant. As the Society Boston! r has grown, the role of treasurer Thanks to a new proposal from has become more complex and our Scientific Advisory Committee’s time consuming. We are fortunate Future Directions Committee, the

Barbara Wedehase LETTER FROM THE development director

Spring is in the air, and with if you are ready to get on board—we reflection on 2011 accomplishments need everyone to make a difference! 04 the National MPS Society says thank We are always looking for creative you! In 2011, our fundraising and ideas for our fundraising efforts. walk/run programs raised more If you have any suggestions or than $500,000 for research and are interested in serving on the family assistance; the Sponsor A Fundraising Committee with our Child For A Cure program raised board members, please contact me more than $23,000! Whether you directly at [email protected]. We hosted a large or small event, each Issues will soon be mailed to our look forward to a successful 2012 one made a difference. We are members—we hope you enjoy fundraising year. honored that you continue to work reading this wonderful publication on behalf of our families to raise and perhaps be encouraged to host For all of our families and friends awareness and funds. an event yourself. hosting gatherings and fundraisers in awareness of International MPS In this issue of Courage are program The Web site has been updated with Day on May 15, we send our best for highlights from the successful 2011 all the information and tools you strong efforts and renewed hope! r Annual Fund and the 2011 walk/ could possibly need to support a run program which funds both fundraising or walk/run event. We general and syndrome-specific also have been updating materials to research. A fundraising Between the mail out directly. Please contact me

LETTER FROM THE program director

This is the time of year TerriAssistance Klein Program (MTAP). I enjoy the most—membership Families will now be able to apply renewals, college scholarships, for one hotel night stipend up to conference registrations and new $100 per eligible MTAP trip. Please programs starting. This is when I see the Family Support section of get to talk with you all the most! the Web site for the MTAP application. You might be calling to ask how Don’t forget about our other Family to fill out a form, or to question a Support Programs: The Continuing program, but we also are able to Education Scholarship deadline is share and learn from each other. Program, which will help member March 15; the Conference Travel For some of you, it allows me to families facing a financial crisis. Scholarship deadline is April 1; catch up on what has happened Funding includes, but is not limited Extraordinary Experiences is open over the last year since our last chat, to, utility bills, home and car repairs, to individuals with MPS and related for others, it may have been even rent and mortgage payments, and disease ages 14 and up; and the longer. Yet still, for some of you, we bereavement expenses. We hope Family Assistance Program which talk a lot more and the updates are this program will be able to help provides financial grants up to on a weekly or even daily basis. I our members by providing short- $3,000 for durable medical goods love to catch up and hear the family term financial assistance in a crisis denied by insurance. news and to share in the laughter situation. Thank you to the amazing and the tears. family who made this program Please call or e-mail me—I would possible. Please contact me directly love to see how we can help your The Family Support Committee if you have questions about the family and to hear how everyone was honored to accept a generous program or how to apply. is doing! r anonymous donation allowing us to create the Emergency Relief We also have made some minor changes to the Medical Travel

Laurie Turner NATIONAL MPS SOCIETY financial summary 05

The Society annually obtains an audit of its financial activity and files a Form 990 with the IRS. For additional information, contact the Society’s office.

2011 Actual* 2012 Budget

Beginning Cash Balances Restricted for Endowment, Research $ 1,833,425.92 $ 1,993,791.42 and Family Assistance Unrestricted 1,005,795.13 767,692.69

Inflows Annual Fund 95,485.42 100,000.00 Conference Income 51,445.00 139,000.00 Donations/Fundraisers — General 100,688.27 101,000.00 Donations/Fundraisers — Family Assistance 71,416.42 50,000.00 Donations/Fundraisers — Research 315,339.82 192,000.00 Dues 34,065.00 35,000.00 Interest & Investment Gain/(Loss) 74,302.81 40,000.00 Operating Grant/Sponsored Revenue 118,872.26 70,000.00 Corp. Gifts/Foundation Grants/Major Gifts/Endowment 48,000.00 100,000.00 Walk/Run Research Fundraiser 209,427.42 220,000.00 Sale Items 7,611.56 8,000.00

Total Inflows $ 1,126,653.98 $ 1,055,000.00

Outflows Administrative $ 52,795.04 $ 50,100.00 Bereavement 5,581.64 14,700.00 Conference 144,063.43 239,500.00 Education — Newsletters, Booklets, Web Page 95,557.78 163,000.00 Family Assistance — Direct 56,878.07 79,500.00 Fundraising 71,033.66 59,500.00 Legislative 4,998.63 35,000.00 Membership Database and Directory 18,229.57 20,000.00 Office and Equipment 44,720.14 48,500.00 Personnel 239,600.39 269,475.00 Research 419,200.00 512,000.00 Sponsored Expenses 51,732.57 150,000.00

Total Outflows $ 1,204,390.92 $ 1,641,275.00

Ending Cash Balances Restricted for Endowment, Research $ 1,993,791.42 $ 1,651,691.41 and Family Assistance Unrestricted 767,692.69 523,517.70

* Unaudited 2011 Actuals The bylaws of the National MPS Society require that the board of directors meet three times each year. Below is a general summary from those meetings; complete meeting minutes can be obtained by calling the Society’s office. 06 board minutes

The first board meeting of 2011 was held on Feb. 12 in Dallas, TX, where we welcomed new board members Jeff Bardsley, Stephanie Bozarth, and Hope and Dave Madsen with the new member board orientation. The meeting was preceded by a day of strategic planning led by Bill Bennington, who has been involved with the non-profit community for more than 40 years. He has provided training to 20,000 staff and board members from more than 4,500 charitable organizations in strategic planning, marketing, communications, and board and organizational development.

• Discussed the 2011 budget, • Discussed 2012 appropriations • Approved a change to the FAP including the proposed grants language and plans for a May visit requirement from one grant per to be awarded. to DC. “membership” to one per “affected • Discussed the rheumatology • Discussed the MPS video project to individual.” project, which is sponsored be launched thanks to a generous • Approved providing walk/run through Join the Search. donation from Shire. coordinators the option to allocate • Discussed the success of • Approved adding Dr. Patti Dickson donations to syndrome-specific personal calls made by board and Dr. Kathy Ponder to our research. members on behalf of the Scientific Advisory Board. • Approved edits to the Annual Fund. • Approved the Medical Travel Confidentiality, Office and • Discussed the success of the new Assistance Program to help Employee Leave policies. Sponsor A Child For A Cure families needing to travel more • Approved the new Joint program, which is associated with than 200 miles one way to non- Venture policy. the walk/runs. recurring medical appointments. • Approved the 2011 budget and • Discussed new fact sheets for 2012: 2011 grant awards. diagnostic testing, transitions, continued >> government assistance, endocrine, HSCT for newly diagnosed families, advanced directive; plus a new section in Courage— Outstanding Siblings, Children and Relatives. • Discussed identifying a new software developer for the Web site which will enhance social networking, fundraising and education, and allow for an online directory. • Discussed plans for the development of a Planned Giving campaign in 2011. • Discussed adding a legislative advocacy staff person. Angela Guajardo, Amy Holland, Steve Holland, Kim Frye, Tom Gniazdowski, Anne Gniazdowski, Austin Noll, Jeff Bardsley, Gordon Wingate, Kim Whitecotton, Dave Madsen, Hope Madsen, Stephanie Bozarth, Kris Klenke, Jennifer Clarke. Not pictured MaryEllen Pendleton. 07 board minutes

>> The second board meeting was held July 28, 2011, in St. Louis, MO, prior to our annual family conference.

• Discussed recommendation • Discussed budget with comparison • Discussed plans to identify an of working with a legislative of inflows from this time 2010, also auditor and insurance agent in consulting firm versus hiring a a review of our CD ladder; the first North Carolina. staff person; proposals from firms Annual Fund mailing was sent in • Discussed the 2013 conference in will be obtained, reviewed and early July. San Antonio, TX, and the 2014 two board members will talk with • Discussed the materials developed Disney conference. personnel from the firms. for the Planned Giving program • Approved edit to MTAP to • Discussed the costs of and program goals. remove six-month membership incorporating poster presentations • Discussed various fundraising requirement. at conferences to include our options, e.g. texting a donation, • Approved second year funding of funded researchers given that FirstGiving, etc. many are from outside the United 2010 grants and first year funding States, and the cost/benefit. • Discussed MPS Awareness Day of 2011 grants. initiatives: FB contest and personal • Discussed 2011 fundraisers and • Approved Dr. Calogera Simonaro thank you’s to the Scientific to join the Scientific Advisory reaching out to families at the Advisory Board and researchers. conference (new fundraising Board. booth). • Discussed the Chase Community Foundation grant received.

The final board meeting of the year was held on Nov. 12, 2011, in Dallas, TX. Newly elected board members, Dawn Checrallah, Lisa Todd and Roy Zeighami, whose terms began January 2012, joined this meeting to become acquainted with the workings of the board. To expedite their first official board meeting in 2012, they received their board orientation at this meeting.

• Discussed the MPS I Newborn • Discussed Angela Guajardo • Approved changing the MTAP and Screening Committee and plans taking over the filing of charitable FAP programs to calendar year. to submit the application to solicitation licenses. • Approved the 2011 election committee in January 2012. • Discussed the MPS video, taping process. • Discussed information Barbara of families and professionals • Approved board member Wedehase presented from her with goal of spring 2012 for evaluation process. International MPS Network completion. meeting in Taiwan. • Approved Stephanie Bozarth • Discussed sending New Year’s as vice president. • Discussed the budget, with a cards to members in place of careful review of the inflows holiday cards. • Approved the strategic plan. and expenditures and projected • Approved the North Carolina amount for the Annual Fund. insurance agent. 08 new board members

Although Jennifer Clarke, Kim Frye and Angela Guajardo are no longer on our board of directors, you will continue to hear their names. Jennifer will continue her work on the Planned Giving Committee, the newest initiative of the Fundraising Committee, and Kim will be a presenter at our conference in Boston this summer. Angela, who has her CPA and served four years as treasurer, has assumed a new role as a part-time staff member, providing accounting services. The responsibilities of the Society’s treasurer have become complex and time-consuming, and we’re fortunate that Angela will assume many of these responsibilities.

On Jan. 1, 2012, we welcomed new board members Dawn Checrallah, Lisa Todd and Roy Zeighami.

Roy and his wife Zezee live in McKinney, TX, and are the parents of an 8-year- old daughter, Aziza, and a 4-year-old son, Reed, who has MPS III. Roy is a technical marketing engineer for Cisco Systems and has master’s degrees in electrical and mechanical engineering. For fun he likes to learn about Web development and computers. The Zeighamis have a foundation, Sanfilippo Foundation for Children. Roy describes himself as “passionate” about legislative activity, and actively supported initiatives of the Kakkis EveryLife Foundation and the Children’s Rare Disease Network.

Roy ran for the board because he recognized that the Society is a world-wide leader in MPS advocacy and research, and he wanted to be a part of this organization. He noted, “Though my son has Sanfilippo syndrome, I realize we are all in this together. I will work hard to create a better future for all children with MPS and ML and those yet to come.”

Lisa Todd lives in Albuquerque, NM, with her husband, Jerry, and their three sons Jake (17), Jack (9, MPS II) and Jaden (5). She holds a bachelor’s of accountancy and is a certified public account with 14 years of experience as an auditor and business advisor, specializing in non-profits and employee

continued >>

Lisa Todd, Roy Zeighami and Dawn Checrallah You can subscribe to receive a full-color electronic 09 version of Courage magazine or view it in the new board members Members’ Only section of the Web site.

>> benefit plans. She has worked with public charities and foundations, including the Make-A-Wish Foundation. She has been an active volunteer in her community, and her son’s preschool donated proceeds for their annual Breakfast with Santa to the Society in 2011. For fun she enjoys fitness and is always looking for a new physical andDid athletic challenge. You She Knowalso loves to cook, entertain and travel with her family. “When you are passionate about a cause, you want to make a difference,” ? said Lisa. “I am ready and armed to fight the battle for our kids. I feel that up to this point, all of my experience with community service was God’s way of preparing me for this moment. The moment of our diagnosis, the moment I would find my true passion in life—when our lives were changed forever.” Based on her professional and volunteer experience, Lisa said, “I can provide my knowledge for best practices in many areas such as strategic planning, fundraising, accounting, investment policies, etc. I hope I can not only make a difference but also connect and form relationships with other people who have that same goal.”

Dawn Checrallah and her son Nick, who is 19 and has MPS I, live in Riverside, RI.

“My main reason for running for the board was my son Nick,” said Dawn. “His motivation and determination have allowed him to succeed in his life’s goals while living with his disability. The support Nick and I have received through the years from the Society and all associated parties has been instrumental in his quality of life today. I would like to be able to give back to others affected by MPS diseases.”

Dawn has a bachelor’s degree in business administration from Northeastern University, Boston, and has been employed for the past 16 years by an international financial services company as an operations/relationship manager in the risk management field. She has worked with Genzyme on several projects and visited Capitol Hill to advocate for MPS issues. For fun she enjoys reading, cooking, gardening and the New England beaches.

“I hope to be able to provide support to affected children and their families as this support continues to be a critical piece to the success of each family’s quality of life,” said Dawn. “I would like to work toward the need for continued scientific research and clinical trials, as both are essential to all individuals affected by MPS. I also hope to continue to work toward achieving affordable healthcare for all individuals and their families living with MPS.” presidential proclamation of courage

I am the proud father of Spencer, Maddie and Laynie, all of whom were diagnosed with MPS I in 1994. Over the years, my wife, Amy, and I have enjoyed their every triumph and success—from student of the month 10 to religious accomplishments, graduations, driver’s licenses and many things in between. However we have also noticed that due to their MPS conditions, they are less likely to win many types of awards when competing with unaffected children. So, the Society is establishing its own recognition program—the Presidential Proclamation of Courage.

While we would all like our U.S. Commander in Chief to be involved, I suppose I will have to do for now. I would like to honor the special accomplishments during 2012 of our members who have MPS or related diseases. We know firsthand that our children overcome more challenges and obstacles to achieve their goals and that fact alone deserves recognition. I want to honor these individuals by sending a Presidential Proclamation of Courage to them recognizing their accomplishments.

If you or your affected child would like to receive this honor, complete the form below, which will help us personalize the Proclamation of Courage. Events we hope to recognize can include—but aren’t limited to—preschool graduations, participation in a clinical trial, first communions, bar mitzvahs, Student of the Month, Boy Scout/Girl Scout awards, graduations, etc. Check with our office if you have questions about an event or special occasion.

Sincerely,

Stephen E. Holland President, National MPS Society

Presidential Proclamation of Courage Name of individual with MPS or related disease:______

Diagnosis: ______Date of birth:______

Special event or occasion:______

Date of event: ______Is there a formal ceremony or event?______

By what date does the Presidential Proclamation of Courage need to arrive?______

What obstacles or challenges have you/your child had to overcome to achieve this goal?______

______

______

How do you feel about you/your child reaching this goal/receiving this award?______

______

______

______

Please tell us about yourself/your child, and daily activities which will help us to personalize the Presidential Proclamation of Courage.______

______

______

Send completed form to National MPS Society, PO Box 14686, Durham, NC 27709-4686 or via e-mail to [email protected]. fundraising news 11

Annual Fund Campaign Raises Ways to Give $96,385 in 2011 • Renew your membership or sponsor another family An amazing year for the Annual Fund! We reached a new • Gifts in honor of a special person record of giving in 2011. This critical funding stream within the Society keeps the organization strong. Through your tremendous support during • Gifts in memory of a special person difficult times, you have shown the Society you understand the need of our families and those affected by MPS and related diseases. Your gift • Matching gifts through your provides support to families through the Family Assistance Program, employer (check with your funding for federal advocacy initiatives and necessary operating funds. human resource office) 1. Request a matching gift form This year the board of directors reached out by phoning the Society’s from your employer families and friends. We are so encouraged by the conversations we had 2. Complete the employee section with your families. It was a terrific opportunity to say hello and thank you of the form for supporting our efforts. 3. Mail to the Society and we’ll do the rest For everyone who reached into your wallets once again and donated to the • Contribute through the Annual Fund in 2011, the Society gives our sincerest thanks! Combined Federal Campaign if you are employed by the federal A special thanks to our 2011 Annual Fund Chair Beth Karas, correspondent, government—CFC #10943 In Session on truTV (formerly Court TV). Beth shared her story of growing up with two brothers, Joseph and Jonathan, who suffered from ML III, and • Designate the Society as a member of your local United the hope she has for the future of all children and adults who continue to Way. You will need to supply struggle with MPS and related diseases. She has supported the organization them with the Society’s name, on many levels and her sibling love for her family affirms that our address and Federal ID number organization’s mission must stay strong. r (FEIN #11-2734849) • Annual Fund donation Annual Fund Donations • Major gift (usually 10 times that 100,000 of your Annual Fund gift)

90,000 • Planned gift 1. Bequest in your will 80,000 2. Charitable remainder trust or 70,000 charitable gift annuity

60,000 3. Charitable lead trust 4. Life insurance policy 50,000 5. Gift of appreciated assets

Dollars Raised 40,000 (stocks, mutual funds and bonds) 30,000 • Gifts may be applied to the 20,000 Society’s general operating 10,000 purposes or restricted to one 0 of our designated programs. 2002 2003 2004 2005 2006 2007 2008 2009 2010 2011 CONTACT: [email protected]

Annual Fund Year or 877.MPS.1001 12 fundraising Gordon Wingate White and Amy Klane family The Wain Herb Tilsner Tracy of Szemanskiinmemory George and Athena Sarantinos R.A. Foundation, Bryan Inc. Pendleton Mark andMaryEllen JoPage Mary Joe andJanMelnyk Scott andLynn Hopkins Steve andBetsyFowler Dutch’s Daughter Dummann Ernie andDebbie Ron andBarbaraDengel Capone Joe andKelley Foundation Bryson Wayne Bardsley andCatherine Dr. andMrs. Melvin Anhalt andBarbara Raymond Alpert and PaulaKacer Gary Wayne andLoriHummel Steve and of Hollandinmemory Amy Wallis andMonicaHampton aCure Grace for Tom and Anne Gniazdowski Ralph andJaneDaniels Joan Cookinhonorof Constantine John andPatricia Rob andDianeCassil Joel andLeeannBernbaum Beck Ronnie andJaye Frederick andNancy Andrews Starr Adams Mary leader philantropist annual funddonors in memory ofJennifer in memory Wingate ofSusannah in memory White ofRichard in memory Wain Szemanski Clinton andZachary in honorofLukeSarantinos in honorofCharlesandPaulPage in honorofNickMelnyk Fowler in honorofKimberly ofSeanDummann in memory in honorofConner Anhalt in memory of Kaylee Kacer ofKaylee in memory Holland Maddie andLaynie Spencer Hollandandinhonorof in honorofJakeHampton in honorofGraceBellontine Gniazdowski ofDanny in memory in honorofBrandenPatterson Jake andSamanthaSlawson Gniazdowski ofDanny in memory Cassil ofMatthew in memory ofMarkBernbaum in memory Hedrick ofBradley in memory in honorofMitchellFinzel ofPaul in memory Adams $500–$999 in honorofMax Tilsner

$1,000+ $1,000+

volunteer Lou Wurdack Mary Don andLisa Wells Stuart Swiedler Sweeney andMary Larry Sheila Slawson Carlos OteroinhonorofCarlo McCarthy Joseph Gene andCynthiaLogan Wayne andPaigeLewis Laorenza Phil andDawn Terri KleinandMikeSchleter andSusanKirch Larry Wendell andKarenKeith Kenneth andBarbara Velten and AnTootill David Robert MaidenandBecky Tanamachi Edwards andNancySiegfried David Salesmaster FlooringSolutions Alan andDianaPendley Maria MeconiinhonorofDeniseDengel andHopeMadsen Dave Chuck andNancyLukondi Lori LeDoux Herbert Kirchinhonorof Allison Kirch Mark Hopkinson ofSpencer, Hollandinmemory Peggy Roxanne MaffittandRobertHarvey  Finzel Bart andSally Steve andLaVonne Blechinger Bien Cheryl Ruth Bauerle Barkley Shawn Sandy Babel Karin andStuart Adams Art andJudith Ackerman in honoroftheSteveHollandfamily in honorofMatt Wells in honorofDeniseDengel ofJamesSlawson in memory in honorofRhiannaLogan in honorofMadisonLewis of in memory Aurora Laorenza of in memory Amanda Keith in honor of Bryce Chesser in honorofBryce in honorof Allison Kirch in honorof Lukondi Allison andLacey Caldwell ofMatthew in memory ofMarkBernbaum in memory Holland Laynie and inhonorofMaddie Barkley in honorofDavis ofMitchellFinzel graduation in honorofthehighschool ofMckennaBailey in memory in honorofCeciliaRoseBien ofFreemanBauerle in memory Barkley in honorofDavis ofPaul in memory Adams in honorofJackFrye

$250–$499

Alfred andCindyDennison Demkin Elizabeth John and Amelia DeFilippis of Crockettinmemory Billi andJeremy Bob andLauraCowin Steve andBrookeCornwell Leo andJanetCookinhonorof Michael andClaireConstantine Constantine TroyElaine Esther Conrad Cohen Jerrold andMarilyn Ross andBeliaCoddingtoninhonorof Mike, MargaretandGraceCiacciarelli Steve andKaroleChesser Mark andStephanieCaldwell Caroline Butz Paul andNancyBurke John andKimBrady Marie Bonville Mike andGraceBodura Frank andLorraineBien Peter andJackieBates Jane Barkerinhonorof William Sly, MD Bardsley Jeff Laird BarberinhonorofMitchellFinzel Joe andJackieBalukin Mark and of Alberta Ballietinmemory John BairdinhonorofMichelleHopkins B.E. Contracting Warfield Stephen Aselage andBetty Barney Arceneaux Tim andMikki Annis Ralph andMartha Anderson and AdaAlden David Denise Albright Dean andKathy Aker Services A-1 Delivery friend Hubert andElaine Willman Barbara Wedehase Steve andMartha Waters in honorof Autumn RaeannLeader in honorofMarkDeFilippis andCamdenCrockett Matthew Morgan andBlakeMcDermott ofChristopherRousseau in memory Gniazdowski ofDanny in memory ofJoshua in memory Williams andfamily in honorofJackFrye ofKarinaGuajardo the birthday ofMaxCiacciarelli in memory Chesser in honorofBryce Caldwell ofMatthew in memory in honorof Allison Kirch in honorofMichaelD. Bodura in honorofCeciliaBien in honorofMichaelBodura Richard andJenniferBalliet in honorof Amanda Crawford in honorofBradenFarrell in honorofStephanie Annis of in memory Amanda Keith in honorofSam Aker in memory ofSusanne in memory Waters $100–$249

James KremersinhonorofIanSmith Barkley Meg KramerinhonorofDavis Fred andJoyceKoehler Joel andLisaKlessens Kimura Alan andKathleen William andJulieJohnson W. Andrew andLauranJack inhonorofSashaHuff Sandy Huff Todd andJenniferHoward Paul andLaurieHoward Chris andMelissaHogan Scott andSusanHoffmann ofSusannah Christine Hoinmemory White ofScottHealy inmemory Healy Shawn Haslett Shelby Paul Harmatz of andDianeHardisoninmemory Billy Luis and Angela Guajardo Rose MarieGreco Greg and Toni Graham Blake and Graeber Ashley Lee and Tammy Gottschall Miller Dan GotelinhonorofDanny Thomas andJeanGniazdowski Frye Stephen andKimberly Ronald andSheilaFrancis JaneFowler Donald andMary Neil andRuthieForman ofEddieDucham Janet Fordeinmemory Donald andRomonaFinzel of inmemory Gail Finney Rob and of Farrellinmemory Amy Michael andSheilaEpstein Jack and Tara Elston Antonietta Ellard Carla EllardinhonorofKarinaGuajardo Eddy Robert MartineauandPamely Rick andJoAnneDougherty William andBonnieDoster Dickerson Michael B.H. andBarbaraDeVries in memory ofRyanMask in memory ofMorganKlessens in memory Holland in honorofMaddieandLaynie ofKyleJack in memory in honorofJosephDelvaux ofKraigKlenke in memory in honorof Allison Kirchandfamily ofDouglasSampson in memory Brian, ChrisandEricHardison in honorofKarinaGuajardo in honorofJacquelineGraham Graeber in honorofBryant Gniazdowski ofDanny in memory Fowler in honorofKimberly in honorofJackFrye in honorofMitchellFinzel Szemanski Clinton andZachary Langford Joe andMaggie in honorofMillie Anhalt’s birthday in honorofJakeElston in honorofKarinaGuajardo Gniazdowski ofDanny in memory of AndrewWatkins memory in in honorofMitchellFinzel

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>> Doug Kreul Alexandria Ball and Sylvia Reising Lynn Ann Witt in memory of Kevin Witt William and Peggy Cook Renee Lassila in honor of Daniel Bosch in honor of Max and Toby Mingo- Donna Woods in honor of Danny Miller David Lebec in honor of Michael Bodura McDonald Susan Woodward Cathryn Cavanagh and Peter Coppola Ken and Julie Leighton Louise Reitan in memory of Aaron Jackson in memory of Gabriela Giannone in memory of Christina Leighton in memory of Spencer Holland Jim and Alexandra Zambrano Estelle Culpepper in memory of Ron and Monica Leone Gary and Bonnie Ritondaro in honor of Bryce Chesser Geoffrey Anders in memory of Kristofer Arnold in memory of David Hedrick J. Maston and Nancy Davis 13

Charles and Kendra Lesta Tony and Sherrie Roman donor $26–$99 in memory of Karly Davis fundraising in memory of Christopher Lesta in memory of Kristofer Arnold Bob and Caryn Ahern Michael Day in memory of Janine Levitch in honor of Conner Anhalt Carl and Donna Rose in honor of Molly Birmingham Greg and Scott Day Mike Longo in memory of Sandra Webb Debbie Allen Mike, Lisa, Marcia, Molly, Gracie Carolyn and Mike Managan Peter and Rosemary Rotelli in honor of the Efird family and Johnny Day in memory of in honor of Ricky Hodgkins in memory of Richard Rotelli Richard and Carol Anderson Greg and Scott Day Eileen Marchica Carey and Hickman Rowland in memory of Amanda Beth Keith Laurence and Connie Delvaux Robert and Constance Martineau in memory of Sally Rowland Mr. and Mrs. Philip Archard Janice Dittmar in honor of in memory of Danny Gniazdowski Lisa Schmidt in memory of Paul Adams Kaitlyn and Sadie O’Donnell Dorothy Mask in memory of Ryan Mask Alan and Deborah Schmidt John and Janet Arendt Jonathan Dols Caroline Masur in honor of the in memory of Mark Bernbaum in honor of Michelle Hopkins Mary Dozbaba birthdays of Mel and Millie Anhalt The Sciammas family Joe and Susan Babic Geri Edwards in honor of Danny Miller Frances McCauley in honor of Shannon Tootill in honor of Sydnee Jensen Howard and Susan Eisler in honor of in memory of Paul Adams John and Sue Scott Scott and Sherri Baggett the 7th birthday of Andrew Eisler Jim and Janet McColgan in honor of Davis Barkley Kathy Bailey in honor of Michele Hopkins Carol Elwell in memory of in memory of Bill Reifsteck Thomas Cleaver and Mary Shine Patrick and Michelle Baldwin Randall and Steven MacDonald Laura McKeithen in memory of Katie Shine in honor of Logan Marcotte Karen Emmes in memory of Edie Burke Richard and Marjorie Sieb Amy Barkley in honor of Davis Barkley Brian Engel in honor of Erin Peters Raymond McPartlin in memory of Richard Wain Mary Ellen Barringer in memory of Terry Epps in honor of Mykonos Hardy George and Ann Mech Burt and Leenie Skolnik Clinton and Zachary Szemanski Wilbur and Irene Erhardt in honor of Amanda Crawford William and Alberta Stanley Don and Christine Benware in honor of Matt Wells David and Donna Michelmore in memory of Brian Stanley in memory of Kenny Trow Helen Fallon in honor of Michael Bodura Don and Joan Miller Mr. and Mrs. Sergio Stasi Lloyd and Janet Berning Geraldine Faucett in honor of Danny Miller in honor of Erin Peters in honor of Colin Berning in honor of Michelle Hopkins Thomas and Selma Mirante Bob and Susan Steiner Robert Park and Elizabeth Binkley Peggy Joy Fehlman Mitchell and Cherylynne Mitchell in honor of Jennifer Steiner Dr. Ned and Emelyn Blymire in honor of Sydnee Jensen in memory of Mitchell Moore II Peter and Sarah Storlie in honor of Maddy Wigglesworth Ben and Pam Feldman Richard and Eva Morgan in honor of Allison Kirch Mike Bodura Sr. Lois Finney in memory Clinton and Bernard and Evelyn Morgan Pauline Stukus in honor of Sarah Mallia in honor of Michael D. Bodura Zachary Szemanski Ron and Chris Morrissey James Stultz in memory of Joe and Kay Bonville Mr. and Mrs. Steven Foshay in memory of Cade Morrissey Joe and Maggie Langford in honor of Allison Kirch in memory of Katie Foshay Gary Mortensen Susan Taylor in honor of Olivia Lovell Don and Frances Bryant Foster Wick Family in honor of Michael and Anita Muonio in memory Terra Properties, Inc. in honor of Bryant Graeber Clay Howard and family of Joseph and Zachariah Muonio in memory of Kraig Klenke Kathryn Bullard in memory of Joyce Fox Anne Novak Eleanor Tobin in honor of the Michael Zechender Maurice Frey in memory of Kraig Klenke Ann O’Malley in honor of Allison Kirch Hopkins family and Helen Allison David and Jackie Burchfield Anna Funkhouser Thomas and Barbara O’Malley Carol Treutlein in honor of Jill Appleman in honor of Davis Barkley Tom and Barbara Palmer Elaine Troy Kevin and Kim Burke Beverly Gerard in honor of Ryan and Brayden Kapes in memory of Danny Gniazdowski in memory of Edie Burke in honor of John Thornton Bruce Palzer Eric and Laurie Turner Linda Burtt in honor of Sasha Segal Michael and Fran Goldberg in memory of Brianna Palzer USA Couriers Phil and Renee Busch in memory of Susannah White Melvaree Pate in memory of Parinaz Vahabzadeh in honor of Sydnee Jensen Jack and Lynn Griffin Spencer Holland and in honor of in memory of Richard Rotelli Tony and Claudia Busse Charles and Shirley Hagermann Maddie and Laynie Holland Kathryn Ward in honor of Bryce Chesser in honor of Erica Thiel in memory of Tom Hagermann Kent and Nina Peter in memory of Kenneth and Victoria Warner Denise Caswell in honor of Sam Caswell Natalie Haggett Zach and Ben Durcholz in memory of Bradley Chapman Anthony and Donna Cataldi in honor of Zach Haggett Jeff Peters in honor of Erin Peters Paul and Kristin Wehrle in memory of Cara Sanford Warren and Lamar Hall Dr. and Mrs. Anthony Pisa in memory of Peter Wehrle Kathy Cavanaugh in memory of in honor of Sydnee Jensen Larry Pung in honor of Austin Noll IV Tom and Theresa Weisenbach James Kirch and in honor of Rodney and Donna Hardy Keith and Barbara Pushee in honor of Megan Weisenbach his granddaughter Allison Kirch in memory of Adam Tyler Hardy in memory of Mark Lessing and Claude and Roselyn Wells Ryan and Tiffany Chisholm Jack and Sherry Harrison in honor of Casey Lessing in honor of Matt Wells in memory of Alyssa Louden in honor of Sydnee Jensen Janet Rafferty Gary and Tracy Wells Steven and Jennifer Clarke Larry and Barbara Hays in honor of Shannon Tootill Margaret and Skip Wilkis Larry and Saundra Clarke in honor of Rylie, Lyle and Jade Hays John and Debby Ratto in honor of Aidan Carter in memory of Devon Clark James Schaefer and Elaine Hendricks in honor of Maria Ratto J.M. and E.R. Williams Bobby and Pat Coffey in honor of Amanda Crawford in memory of Jeffrey Orr in honor of Sydnee Jensen

continued >> >> Robert and Marguerite Iannacone J. Harold McKeithen in honor of John and Karen Saucier patron $5–$25 in memory of Kristofer Arnold Malloy and Susan McKeithen Tom and Donna Schidlmeier Beckie Adams in honor of John Cowin Allan and Linda Iezzi in honor of Judith McKinstry in memory of in memory of Jaret Schidlmeier Allen Cook and Lisa Albitz Waverly and Oliver McNeil Adam Hale Mark Schlafer in memory of Danny Gniazdowski Richard Underwood and Jean Jacobsen Susan Gilbert and Nic McPhee Alan and Debbie Schmidt Sally Armstrong in honor of Logan Piefer George Johnson in honor of Mitchell Finzel in memory of Mark Bernbaum James and Helen Carr 14 in honor of Amanda Crawford Mary Ann Messick in honor of Peter and Catherine Schreiber in memory of Tyler Kent Deskins Rick and Jeanne Joiner Russell and Alexandra Browne Rick and Cathy Schuett Ann and Edward Cummiskey in honor of Riley Joiner David and Lorraine Miller in honor of Jessica Moore in memory of Andrew Watkins Skip and Jane Jones Paul Miltgen in memory of Alex Sobie Pam Seamans Feldman Barbara Fisher in honor of Sydnee Jensen Robert and Linda Montanino Ron Shebik Alan and Karen Gibson Russell and Kaydi Kacer Scott and Patricia Morris Robert Sheridan Jennie Gladysz in memory of in memory of Kaylee Kacer in honor of Joe Morris in honor of Michael Sheridan Danny Gniazdowski James and Mary Kalteux Marilyn Nehus David and Becky Silkey Marlys Herring Heidi Kanealy in honor of Matt Allen David and Frances Notley Charles and Marie Sledge in honor of Joann Holder in memory of fundraising Rich and Beth Kania in memory of Nancy Notley Hannah and Cassidy Gosey Spencer Holland in honor of Alexia Kirch Mary Anne Oliger in memory of Robert and Cheryl Slowey Mr. and Mrs. Wayne Howser Janet Kappel in honor of Debbie Kappel James Oliger in honor of Joseph Delvaux in memory of Jennifer Wingate Paul and Leslie Karas Tim O’Malley in honor of Allison Kirch Mike and Barbara Smith Paul and Alicia Leach Irwin and Gloria Katz Butch and Debbie Osander Julie Smith in memory of in memory of Ryan Mask in honor of Jack Frye in honor of Sydnee Jensen Greg and Scott Day Norine Lippens Chuck and Millicent Kennedy Larry and Eileen O’Steen Sally Suchor in memory of Freddy and Christine Luscher in memory of Russell and in memory of Ryan O’Steen Edward Yelland in memory of Paul Adams Dougie Kennedy Florence Paolilli in honor of Austin Nace Donald and Rachel Swicker in memory of Merritt and Madeline Moseley Henry and Ardis Ketterer Linda Parsons in memory of Jonathan and Joe Karas in memory of Edie Burke in memory of Peg Ketterer Greg and Scott Day Noel and Nancy Talcott Bernadine Nardin in memory of Ryan and Christina Kilpatrick Ronda Paullin in memory of Natalie Talcott Daniel Nardin in honor of Ryan and Brayden Kapes J.N. and H.W. Peters Ellis and Jeanette Taylor in memory of Shirley Pelletier Kathleen Kimura in honor of the Kapes family Shauna and Jonathan Taylor Ambrose and Patricia Perreault Brian and Kris Klenke Leslie Phillips in memory of Kraig Klenke Joseph and Jeanette Taylor in honor of Logan Marcotte Allen Koehler in honor of Jeremy Mask Charles and Ellyn Phillips Jackie Theriot in memory of Mr. and Mrs. Douglas Pica Louise Kofron in honor of Millie Anhalt Blake and Lance Dutile Julia Rice in honor of Mary Kramer in honor of Jack Mahoney Tom and Carrie Porzel Nita Todd Serrina and Autumn Cooper Clint and Nikki Kremer in memory of Robert Alvarado James and Bonnie Tully Don and Janet Schmidt in honor of Ava Kremer Ed and Stephanie Rabuse in memory of Paul Adams Ellen Sidman in memory of Ryan Mask Carol Kuhn in memory of Paul Adams Tom Uebelacker in memory of Myrna Stelman in honor of Jack Frye Benton and Dorothy Leach Floyd and Sharon Reed Brendan Carter Richard and Rebecca Wildman Kenneth Ledford in memory of Evan Reed Michael and Veronica Vacca in honor of Matthew Wells in honor of Amanda Crawford Stella Reeve in honor of Kristen Reeve in memory of Richard Rotelli John and Linda LeJeune Marianne Reid in memory of Harry and Janice Vanhorne in honor of Brittany LeJeune Mallory Moore in memory of Rishi Garg Scott and Gabriella Lich Ralph and Bonnie Rennaker Steve and Anna Webersen in honor of Megan Lich in memory of Jill Rennaker and in memory of Edie Burke Dawn Lingo in honor of Kyle Lingo in honor of Mindy Rennaker Don and Dottie Weissman Fundraising Committee: Nick and Beth Lombardo George and Carol Rice in honor of in memory of Michael Zechender Jennifer Clarke in memory of Kris Arnold Autumn and Serrina Cooper Joann Werner in memory of William Lowenberger Catherine Rizzo in honor of Mark Bernbaum Ernie Dummann in honor of Michael Bodura Jr. Sarah Mallia Lewis Whitaker Jr. Anne Gniazdowski Jay and Pam Lyden Mr. and Mrs. Kay Rogers in honor of Logan Piefer Tom Gniazdowski in honor of Sydnee Jensen Kelly Rose Darrell Whittle Don and Carol Manning Carol Ruhnke in honor of Carly Ruhnke Ron and Kim Wiest Steve Holland in memory of Kyle Joe Manning Thomas and Carolyn Russo in honor of Noah Wiest Larry Kirch Gary and Lana Marble in memory of Stefanie DeAngelis John and Patricia Wyers Terri Klein in memory of Evan Reed Katheryn Ruthruff in honor of Sean Wallace John and Jennifer Martin in honor of Julie Thorsrud Raymond Young Dave Madsen in memory of Kelly Wayne Hales Millie Ryan in memory of Kaylee Kacer Hope Madsen Clayton Martin in memory of The Sagarwala family Doris Zigler in honor of Austin Noll Audrey Lawson in memory of Disha Sagarwala Sean and Cody Merrell Lupe Martinez in honor of Christine Saladino in memory of Bob and Kate Zimmerman MaryEllen Pendleton, chair Kaitlyn Evie O’Donnell Gabriella Giannone in honor of Aidan Carter Kelly Rose Debbie May in honor of Sydnee Jensen Dr. and Mrs. A.L. Sarantinos David Zimmerman Lisa Todd Stephen and Marie McClurg Suorchi and Thavy Sasry Andrew and Louise Zygmuntowicz in memory of Dylan Michael McClurg in memory of Samantha Sasry in memory of Amanda Keith Laurie Turner Barbara Wedehase Sponsor A Child For A Cure 2011 Fundraising Reminders Families across the country raised $23,000 in 2011 for this wonderful and heartfelt program. Each year with renewed hope we reach • Don’t forget to submit a brief out to families so they too can make a difference and help raise money article for Courage about your 15 for research. fundraising success stories and fundraising suggestions—they are terrific It is easy, and the rewards are tremendous. Thank you to the following resources for other families families who embraced the challenge. We HAVE made a difference together planning events. and HOPE is stronger than ever before. • Check out the fundraising section on the Web site for more Anderson family, Nathan Roma, Migliozzi family, Christopher information or to post your event. MPS VI Joseph, MPS I Boni family, Danica, MPS I Podesky family, Adam and • For free MPS Society brochures Benjamin, MPS I and donor envelopes, or to Caswell family, Sam, MPS I submit information for the Web Rice family, Amelia, MPS III Cavanagh family, Scott, MPS IV site or Courage, send an e-mail to Fowler family, Jack, MPS II Robson family, Jaeda, MPS III Terri Klein at [email protected]. Gibson family, Clara, MPS III Szemanski family, Clinton and Keep in mind—the Annual 5K Zachary, MPS III Kemp family, Zain Semones, MPS II Walk/Run and the Annual Fund Waddell family, Ethan, MPS I are great ways to raise money for Kirkpatrick family, Wendy and the National MPS Society. Kaylee, MPS I Yard family, Christian, MPS II Laorenza family, Aurora, MPS III

Action for Aidan, Exeter, NH

National MPS Society Earns 4-Star Rating

The National MPS Society has received four out of a possible four stars from Charity Navigator, America’s premier charity evaluator. The four-star rating indicates that the Society adheres to good governance and other best practices that minimize the chance of unethical activities and consistently executes its mission in a fiscally responsible way. Approximately one quarter of the charities evaluated by Charity Navigator have received the four-star, or highest rating, indicating that the National MPS Society outperforms most other charities in America. This exceptional designation differentiates the Society from its peers and demonstrates to the public it is worthy of their trust. Walk/Run Program Celebrates 12th Anniversary Raising Awareness and Funding Research Discovering New Hope 16 For 12 years National MPS Society members, families and friends have committed to walk/run fundraisers throughout the country. Each of these events has brought us one step closer to finding treatments and cures for MPS and related diseases. This past year families raised money for both the general research program and syndrome-specific research. This program continues to be a success year after year. Remarkably, these

fundraising events have raised almost $4 million since they began in 2000. In 2011, 14 events generated approximately $200,000. One additional event, Action for Aidan, raised another $100,000 for MPS II research. Whether large or small, each event was successful at raising awareness, reaching out among Run With Us in 2012 communities and involving thousands of people in cities nationwide. —We Need You! The Society thanks all of the coordinators and many volunteers for their hard work at these successful events. r Have you ever wanted to host a walk/run event? Our walk/run family reunion. Run for Erin also program strictly funds research participated in Sponsor A Child For dollars and we need your help. A Cure. Our goal is to host races across the country and let everyone know we 5 for fiVe, Race for a Cure 5 will not rest until there are cures Sept. 10, 2011 for MPS and related diseases. Event Coordinator: Michelle Storm-Butts Get on board, have fun and raise The 5 for fiVe second annual walk/ awareness in your community. run was held in Saratoga Springs, Children around the country will NY, in memory of Louis Butts V thank you. 12th Annual Run for Erin 4 Sept. 24, 2011 (MPS I). The event hosted E-mail Terri Klein at Event Coordinator: Stacy Peters 55 participants and 20 volunteers [email protected] or call The Peters family, along with on a warm sunny day at the local park. 919.806.0101 to request a 25 volunteers, hosted the 12th The event was inspiring for fundraising packet, which Annual Walk/Run for Erin. This Michelle and her family because includes all of the tools year 200 participants ran, walked many donations were received from necessary to host a successful and raised more than $13,000 for the community. 5 for fiVe raised event! You also can visit the MPS III research. The event is held more than $4,000 and continued a Web site at www.mpssociety.org. in honor of their daughter Erin platform of awareness about Louis (MPS III). Since 2000, the event and his heroic spirit. This walk/ has been held at Woodstock High run also participated in Sponsor School, GA, where Erin attended A Child For A Cure with three for four years, and has raised more participants. than $233,000 for research. The board of directors planned the run and volunteers helped with the raffle, which raised $1,600. Each year the Peters family finds many rewards in hosting the event as they are able to combine it with a Cameron’s 5K Walk/Run for Cures 5 May 14, 2011 Event Coordinator: Julie Mollett Friends and family gathered in 17

Ashland, KY, for the inaugural fundraising Cameron’s 5K walk/run. The Mollett family has held fundraising Action for Aidan 4 Beat MPS 5K Walk/Run events in the past but wanted to June 19, 2011 Delaware 45 join the walk/run program. Event Coordinators: June 12, 2011 More than 100 participants Brooke Carter & Jennifer Carter Event Coordinators: Carl & Jennifer Kapes supported Cameron and raised The Carter family held their This second annual walk/run was more than $3,000. Community inaugural walk/run in Exeter, held in Wilmington, DE, in honor of spirit, friends and donors NH, in honor of Aidan who was Ryan and Brayden Kapes who have encouraged the Mollett family diagnosed with MPS II. The event MPS III. Hundreds of participants to host again in 2012! hosted 300 participants and 50 and volunteers attended. volunteers with tremendous support Families traveled from different from corporate donors and families. states to support the Kapes and The day was sunny, warm and filled they raised more than $22,000 for with many fun activities. There was MPS III research. an auction, barbecue, balloons, en- tertainment and crafts for children. The Carters worked for more than a year planning this extraordinary event and the support was tremen- dous. They used both the National Kenton’s Cause 5 MPS Society Web site and Firstgiving April 17, 2011 to raise more than $100,000 from Event Coordinator: Amanda Fults across the country for MPS II research. This first walk/run was held on a beautiful day in Lincoln, IL, in BioMarin MPS Run memory of Kenton Fults who lost for Your Life 6 his struggle with MPS I. Oct. 2, 2011 The event had more than 100 Event Coordinator: Kathie Ward participants and volunteers. This 9th annual walk/run was held Together this inspiring group raised in sunny Novato, CA, with 110 more than $9,000 with donations participants and 20 volunteers. This from friends and family throughout motivating group raised more than the community. $36,000. Altogether supporters have raised almost $350,000 for research. This walk/run also participated in Sponsor A Child For A Cure and had eight participants. BioMarin continues to support our families from coast to coast.

It Works 1st Annual Miles for MPS 5 A total of 242 participants ran Sept. 17, 2011 or walked and raised more than Event Coordinators: $7,500. Altogether MPS Run For Steve & Laurel Radius Their Lives has raised almost 18 Miles for MPS celebrated its 10th $55,000 for research. anniversary walk/run in honor of David (MPS II) and in memory MPS 5K Run 4 Oct. 29, 2011 Chip (MPS II). On this beautiful Event Coordinator: Kate Martin day family and friends came out to embrace the Radius family while Almost 75 participants weathered they were relocating to Florida and the rain and wind in Bradenton,

fundraising hosting this extraordinary event. FL, for this inaugural walk/run. It Works hosted the 5K in honor The event raised nearly $5,000 and of the Radius family who has altogether has raised more than relocated to the area. $63,000. Together they raised $5,000 and MPS Society Walk/Run LA 4 Oct. 22, 2011 had tremendous support from their Event Coordinator: Tami Slawson employees. It Works introduced awareness about MPS and related Held in southern California, diseases to the community of the MPS Society walk/run LA Bradenton and more importantly celebrated its 11th anniversary embraced the Radius family with and has graciously retired after a heartfelt welcome! years of extraordinary efforts! It Works also participated in The event had more than 200 Sponsor A Child For A Cure and participants and 20 volunteers. had four participants. Again this year the event hosted a post-race speaker and picnic for families. MPS Run For Their Lives 5 Oct. 22, 2011 This event has grown within the Event Coordinators: community and among families. Scott Hardin & Steve Holland They have raised nearly $30,000 MPS Run For Their Lives celebrated and altogether have raised more its 10th anniversary in Fort Worth, than $360,000 for research. This TX. This event is held in honor of event has truly been inspiring for Maddie and Laynie Holland and in all of our walk/run coordinators memory of Spencer Holland. across the country. Laps for Lucas 4 Sept. 18, 2011 Event Coordinators: Lew & Stacey Montgomery The Montgomery family hosted their 5th Annual Laps for Lucas in honor of their son Lucas (MPS III). Family and friends raised more than $3,500 for MPS III research. Laps For Lucas altogether has raised more than $63,000. 19 fundraising

Strides for Sara 4 June 11, 2011 Event Coordinator: Monique Dickerson The 4th annual Strides for Sara was held in Fair Haven, NY. Hundreds Post Office Café 5K Walk/Run for of participants and 35 volunteers Mark and Casey Lessing 4 raised more than $5,000 and had Oct. 15, 2011 tremendous support from the Event Coordinators: community. Kerri Rose & Mark Lessing The event included raffles and Held in Babylon, NY, this 6th food. The Dickersons are thankful annual event raised more than for the community support and $12,000 in honor of Casey Lessing look forward to next year’s event. and in memory of Mark Lessing Jr. Altogether they have raised more for MPS III research. than $16,000. The event hosted 600 participants and 40 volunteers and continues to grow each year as the community comes to support the Lessing’s children. Altogether, the Post Office Café has raised almost $115,000.

River Run for Ryan 7 Aug. 13, 2011 Event Coordinators: Jonathon & Marie Hunt This 4th year event held in Guttenberg, IA, raised more than $12,000 for research with 190 participants and 20 volunteers. The event is held in honor of Ryan Hunt (MPS II) and grows each and every year. The Hunt family receives donations from as far away as Canada. Altogether they have raised $61,000 for research. 20 family news

On June 9, 1998, I knew my life Boy was I wrong! Our lives changed would never be the same; but if you forever as the doctor informed would have told me then what I us Henry’s test indicated he was know now I would have called you positive for MPS III A. He informed crazy. Henry was my first child and us of his prognosis and that no I expected a million challenges treatment existed for this group of along the way, and knew it would be diseases. I left feeling like it was all a flurry of emotions to be a parent. a bad dream. Henry did everything like all my So much has happened since friends’ kids were doing and life that sad time of our lives. Henry was good. About the time I became is now 13, Haley is 11 and Harly pregnant with my second child, is 9. We have all had a lot of time Haley, I started noticing things to adjust to Henry’s life being were not going so smoothly with different. We are so blessed by Henry’s development. Haley was his presence in our life every day. born May 29, 2000, and I continued We relocated from Indianapolis, an internal and external battle for IN, to an amazingly supportive Haley, Harly and Henry (MPS III) Koker answers about Henry’s seemingly community that we proudly call worsening delay of fine and gross home, McPherson, KS. We moved motor skills. to McPherson the year Henry was Over the next two years we saw diagnosed, and I am so glad we did. many specialists, we asked questions The love, kindness and support and received minimal information. we receive from the members of I again found I was expecting, our town make this journey a little another girl, Harly, who was born more bearable. Harly Koker is the 3rd place winner March 13, 2002. I was at the end in the fourth grade division of this Henry’s health has been a roller of my rope and was starting to feel year’s KPTS Young Authors Contest. coaster ride to say the least. Henry a little crazy. After nearly six years Harly’s story, “Henry the Duck,” has had a terrible time maintaining of seeing more than 20 doctors is about her brother, Henry, who his pulmonary health and has from different fields of specialty has MPS III, and features her own spent more time in the hospital and getting turned away with no creative illustrations. To see Harly than at home during 2006–2010. In answers, a genetics doctor at our read her winning story, go to www. October 2010 we made a difficult local children’s hospital finally youtube.com/watch?v=4oJOnWpXG decision and had a tracheotomy called us to give us the results 2k&feature=share. performed. Since then Henry’s from the most recent round of health has improved significantly! testing. I assumed this would be He has spent less than seven days in like every other appointment we the hospital in the past 15 months. had been to over the past few years: We are thankful to have him home, a disappointing waste of our time. happy and healthy.

continued >> >> These days life is moving faster We lean on our faith to make it than I can keep up. I have been through the hardest of times and home caring for Henry for nearly thank our Lord for the great times. two years. My second husband We have no idea what tomorrow and love of my life, Joseph, works is going to bring but we will never 21

hard to provide for our little quit living life to the fullest. We will family news family. Joseph stepped into an never quit counting our blessings impossibly hard situation and and we will be forever grateful for never looked back. He has been every day we are given to love our the reason I am able to spend these Henry. We truly look forward to all too important days with Henry. being part of a community that Nick Boyce (MPS I) and Sam Caswell (MPS I) Haley and Harly are growing into understands where we are, where finally got the chance to meet in Boston on Dec. 28, 2011, at the Mass Eye and Ear absolutely lovely young ladies. we have been and where we are Infirmary. Both were there for post-cornea I have never met children with headed on this journey, so thank transplant surgery follow-up appointments. such hearts to help others, and you for the opportunity to share a to care on such a deep level for little about our little family. r their brother’s well being makes me all fuzzy inside. At their young ages they have already taken the initiative to learn how to provide all of Henry’s care. They truly amaze me! We enjoy spending time with our family and extended family and many friends as much as possible. Melissa Koker

Alena Galen (MPS VI) I Can’t Deny…

That I’m: sad. worried. frustrated. overwhelmed. confused. scared. mad.

I’m only human, right? I need to admit something. I try really hard to have an exterior that exudes strength and happiness. It’s not always a true front! There are days that I have this candy coated shell, while inside I’m screaming and think this pit in my throat is going to constrict my ability to breathe. I’d like to blame my ongoing mood on the lack of sunshine, but that’s not true. I think I’m just sad. I feel alone and I’m tired of worrying. Karina Guajardo (MPS III)

Did anyone notice the list above is shaped like a diamond? Totally unintentional on my part, but maybe it was meant to be.

After I typed the first paragraph I literally wanted to stop and slap myself across the face. I HATE blogging like this. Yes, it’s honest and real, but I don’t like to complain. I thought about erasing and starting over because who

continued >> >> doesn’t have SOMETHING and who wants to read my sob story? But I didn’t. I kept reading that list over and over again and then noticed that it looked like a diamond. So, I decided to Google “diamond” and after reading what Wikipedia defined diamond as, my blog now had form. Literally.

A diamond—something that is unbreakable. Obviously that does not define 22 me. However, the unbreakable bond that I have with Liv is something pretty spectacular. We have something different between the two of us that is hard to explain. I understand her and know what she wants. This bond and mutual understanding is something I don’t think everyone gets to experience. I have a bond with Finley, a great one, but it’s very different than Liv’s. Diamonds are remarkably beautiful and have a luster that make them treasured by everyone. Have you ever heard anyone say, “Yuck, I

family news never want a shiny diamond”? Probably not. There aren’t many diamonds out there that are perfect. Some have small flaws. I would never describe my kids as “flawed.” But we all are in some way. When you start dating someone, you notice their flaws that annoy you or maybe attract you. Livia has a pretty major flaw, a genetic deformity, to be exact. But so do I, Jake does, and so does Finley. You know what? There is a large percentage of people who have some sort of genetic mutation and don’t even know it. But does that mean you aren’t beautiful and unique? So often I find myself really upset when I see Livia around “typical” kids her own age. Kids and adults notice there is something different about her. I put my defenses up and am ready to pounce and defend her if needed. I think I need to change my attitude. I have a chance to teach kids and adults compassion to others. It’s hard though, because you don’t want to dive into details of why Livia won’t talk back to you or why she likes to chew the arms off her Barbie. I need to just compassionately tell people that Livia is like a diamond…she’s beautiful, unique and different. Ok, so I probably wouldn’t ever tell someone that my child is like a diamond, but you get my point!

Livia Hubert (MPS III) Also I can’t deny… That I’m: ok. lucky. blessed. encouraged. faithful. strong. me.

This diamond was formed on purpose. My candy coated shell didn’t just form overnight, and isn’t always just a front. I’m allowed a few tears here and there and I think this post helped put perspective back in its place.

(mom of Livia, MPS III) http://huberthoneys.blogspot.com/

Kelly Hubert upcoming events 23

National MPS Society 2012 Conferences Family Conference—July 26–28, 2012 CYCLE (Celebrating Your Child’s Life Cycle)—July 29, 2012 SPIRIT (Strength, Purpose, Independence, Resilience and Initiative Together)—July 28–29, 2012

The 26th Annual National MPS Society Family Conference will be held July 26–28, 2012, in Boston, MA. The Boston Park Plaza Hotel & Towers is located in the heart of historic Back Bay and is one of Boston’s most recognized and renowned landmarks. Rich in history, The Boston Park Plaza has distinguished itself with classic elegance and personalized service that continues to attract travelers from all over the world who visit Boston for business, leisure or special events. The hotel is located three miles from Logan International Airport and only 200 yards from the nation’s first public parks, Boston Common & the Public Garden. The hotel is easily accessible to shopping along world renowned Newbury Street, Faneuil Hall Marketplace, the theatre and financial districts and most historic landmarks. This conference promises to offer all the updates on research, medical care and other topics that you’ve requested.

Following the family conference are the specialty conferences held every two years: SPIRIT for adults with MPS and related diseases, and CYCLE for bereaved families. Both conferences are held at The Boston Park Plaza; attendees of these conferences are welcome to also attend the family conference.

Registration and scholarship information for all three conferences have been mailed. Information can also be found on our Web site. Register early and join your friends in one of America’s most historic cities.

12th International Symposium on MPS and Related Diseases June 28–July 1, 2012 Noordwijkerhout, The Netherlands

By bringing patients, parents and families together with professionals, this international symposium will share information on all aspects of MPS and related diseases. The overall objective is to advance the quality of care and treatment. As well as musculoskeletal disease and MPS, the brain and MPS, and new approaches to treatment, the main topics of the symposium will be pricing and reimbursement. All will be covered in joint sessions attended by doctors, scientists, patients and patients’ families. Separately, doctors and scientists also will attend more detailed sessions on the central nervous system, bone disease and novel approaches to treatment.

Families will not only have opportunities to meet peers from other countries, but will be able to attend sessions on optimizing care, dealing with clinical issues and surgery in MPS, and “living fully with MPS.”

The symposium will be held at the four-star NH Leeuwenhorst conference center in Noordwijkerhout, which is approximately 20 minutes from Amsterdam Schiphol airport and 30 minutes from the city of Amsterdam. Noordwijkerhout lies very near to a coast with long sandy beaches, and various major cities and sites of interest are within easy reach. Special activities will be organized for young patients and their siblings, who will be accompanied by trained volunteers.

To register to attend the conference or for more information, visit www.mps2012.eu. A Warm Welcome introduces new Society members/families and offers members yet another chance to connect with one another. If you have a moment, please contact the new family or member to say hello and welcome them into our MPS family. If you have been 24 a member for a longer period of time, but would like to introduce your family to the rest of the Society, please e-mail Laurie Turner at [email protected]. a warm welcome

The National MPS Society welcomes Arthur Cabral, an adult with MPS IV B.

My name is Arthur Cabral and I have Morquio syndrome. I was born in 1978 and I am the youngest of four children. My parents, who are both from Mexico, moved to Pleasanton, CA, where I have lived my whole life. Being the only one in my family with MPS IV has had its challenges, but I have been blessed with many friends and family who have supported me and been there for me through tough times. Living with MPS IV has not deterred me from accomplishing goals I have set for myself. I started working when I was 15 years old; I have worked for a Fortune 500 company for the last 12 years. I am only 33 years old and not only do I already own a home but I am in the process of buying a second home with my girlfriend. As you can see, having MPS IV has not been a disability for me but, rather has encouraged me to strive for a better life.

I started showing signs of MPS at age 7 when it began affecting the way I walked. My mother started taking me to doctor to figure out what was wrong. After years of consulting and research, in 1989 at the age of 11, Shriners Clinic in San Francisco diagnosed me. As a child, I had two major spinal fusions, both in my upper and lower spine. This disease stunted my growth and at the time, I was tall for my age. I am now only 5 feet tall. The doctors advised me I would need hip surgery at a young age, but it would be best for me to hold out as long as I could so that hip replacements would improve as the years go on. I waited to get my first hip replacement until I was 25 and had my second a year later. The surgeries were a success, my limp was dramatically improved, and I now am able to straighten my stand.

A few years after the hip replacements, the doctors said I would have to have my ankles fused. Not willing to accept that as my only option, I did my own research and found a medical office in Oakland, CA, that was doing trials for ankle replacements. As soon as the ankle replacement procedure passed FDA regulations, I was first in line to have them done. I had my first ankle replacement done in 2007 and the following year had my other ankle replaced. I have limited motion with lifting my foot up and down, and side to side. I am glad I chose to have the ankle replacement as opposed to

continued >> >> getting the ankle fusion, which would have caused me to have no motion at all. A side effect from the ankle replacements is swelling, but I do my best to prevent and limit this.

Living my life to the fullest is my passion and not letting this disease keep me from achieving my goals. The funny thing is the doctors only 25 a warm welcome diagnosed me with “Morquio syndrome type B;” they never once advised me that it was MPS IV. I recently just discovered this while searching the Web for information regarding Morquio B. I came across a Web site, www.morquiob.com, where I found someone like me. I have never heard, seen or believed that someone else could also have Morquio syndrome type B. I was just living my life with my struggles thinking I was a rare case in the medical field. This year I went to Vancouver to meet a boy with MPS IV B, a boy who, like me, had the same symptoms. I made it a point to educate myself about this disease and had the privilege of speaking at a fundraiser for the research and cure for MPS IV B. You can view my speech online at www.morquiob.com.

I have found a big world that I did not know existed much less belonged to. I am very appreciative for the opportunity to have met great people through the MPS Society and I plan to continue to keep in contact with them. I will keep raising money for MPS IV B research and will not stop Art and girlfriend Laura until there is a cure! It is not a matter of if, but a matter of when.

I appreciate everyone who is involved with the MPS Society. I would like to thank my parents, brother and sisters, family and friends for all the support they have given me and continue to give. Life has a better meaning for me and I intend to live it to the fullest and embrace whatever the future holds for me.

[email protected]

ArthurInternational Cabral MPS Awareness Day is May 15! Each year the Society celebrates International MPS Awareness Day on May 15. This is a day devoted to raising awareness of MPS and related diseases, to honor everyone in our community, to recognize, remember and rejoice in each other.

In 2012 we’re asking all our members, friends and supporters to do something, big or small, to mark MPS Awareness Day.

Visit www.mpssociety.org for more information or give us a call at 919.806.0101. 26 2

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1 Jenna and Sam (MPS I) Caswell 2 Olivia and Sophia (MPS III) Lovell 3 Carter and Makenzie Bays 13 4 Sydney and Jackson (MPS II) Dunn 5 Mason, Sheri, Josh, Tyler and Ethan (MPS III) Sowden 14 6 Ben, Alex, Dorian (ML II), Wynn (ML II) and 15 Luna Johnson 7 Blair (MPS III) and Grey Chapin 8 Lou and William (MPS II) Slavik 9 Mike, Jill, Morgan and Blake McDermott 18 (MPS III) 10 Jacob, Ryan and Jessica Moore (MPS I) 11 Loren McClelland (MPS I), with his service dog 12 Bryce (MPS II), Steve, Bryn and Karole Chesser 16 13 Chris, Elizabeth, Willow and Bella (MPS IV) Hoff 14 Ashley and Allison (MPS I) Restemayer 15 Maddy, Annabelle (MPS IV) and Charlotte Bozarth 16 Chadd, Amy, Maura and Audrey Fisher 17 Jim, Cristol and Chloe O’Loughlin 17 18 Laura, Jack and Liza (with Edie in our hearts) 20 22 19 21

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32 19 Steven, Zach, Mackenzie (MPS III), Jennifer and Ella Clarke 20 Wallis, Monica, Jake (MPS II), Natalie, Nicole and Ruby Hampton 21 Paul, Laurie, Jack and Clay (MPS II) Howard 34 22 Tripp, Jen, Aidan (MPS II) and Avery Carter 23 Eric, Vicki, Sean (MPS I), Cody (MPS I) and Amber Merrell 24 Clara (MPS III) and Ethan Gibson 25 Jeff, Kim (MPS III), Betsy and Steve Fowler 26 Opal Dummann 27 Helen and Allison (MPS III) Kirch 28 Dean family 29 Jacob (MPS I) and Sammie (MPS I) Slawson 33 36 30 Scott, Lynn, Christopher and Michelle (MPS I) Hopkins 31 Jake, Jaden and Jack (MPS II) Todd 32 Spencer (ML III), Sydney, Andrea and Kevin Gates 33 Jake (MPS III), Hannah and Luke Elston 34 Karen, Lindsey (MPS III) and Hannah Efird 35 Luis, Angela, Anyssa and Karina (MPS III) Guajardo 36 Fredy, Jeanette, Jasmine and 35 Dominic (MPS II) Henriquez Outstanding Sibling, Children and Relatives 28 OSCAR award

The National MPS Society’s OSCAR award honors the brothers, sisters, children and relatives of our children with MPS and related disease. This special group of individuals provides support, humor, direction and most of all unconditional love. In each issue of Courage we will honor super siblings who shine each and every day. To nominate someone in your family for an OSCAR award, please send an e-mail to Laurie Turner at [email protected].

In this issue, we honor Stephanie and Mark Caldwell. Their son, Matthew (MPS II), passed away on March 11, 2011, at the age of 17.

The love and devotion Stephanie and Mark gave Matthew was an inspiration to everyone. It was a true example of unconditional love. Matthew’s brother, Drew, learned by his parents’ example at an early age not to treat him any differently just because of his disabilities. Family vacations were always planned so Matthew could be included. His needs always came before their own. They cared for him tirelessly and never complained.

Mark, Stephanie, Drew and We will always remember the strength and courage they all displayed in Matthew (MPS II) Caldwell Matthew’s brief but meaningful life.

submitted by (mother of Stephanie and mother-in-law of Mark)

My Brother, MPS, and Me!

Written by Dawn A. Laney and Stephanie R. Cagle,Marjorie this book was Austin developed to help explain MPS conditions and treatments from the perspective of a young child. Revenue from the sale of this book will support the Emory Lysosomal Storage Disease Center, which provides diagnosis, evaluation, management and treatment services for patients from all over the United States.

Order copies by contacting Dawn Laney, MS, at [email protected] or 404.778.8518. The book also is available on Amazon.com at www.amazon.com/My-Brother-MPS-Dawn-Laney/dp/1463698909. REMEMBERING our children 29

Danette Baker Mali Larrow 38, MPS IV, 12/3/11 8 months, MPS I, 2/5/12 John Cowin Lee Matthews 17, MPS II, 1/30/12 10, MPS II, 1/28/12 Gabe Creese Nicole Pagliero 7, MPS II, 2/16/12 28, MPS III C, 12/1/11 Sagarwala Disha Hannah Taulton 18, MPS III C, 11/19/11 15, MPS III, 1/21/12 Olivia Guidry Kason Troehler-Hill 20 months, MPS I, 1/25/12 17 months, ML II, 1/14/11

A Letter from Heaven by

To my dearest family, some things I’d like to say. But do not be afraid to cry; it does relieve the pain. But first of all, to let you know, that I arrived okay. Remember there would be no flowers, unless there was I’m writing this from heaven. some rain. Here I dwell with God above. Here, there’s no more tears of sadness; I wish that I could tell you all what God has planned. Here is just eternal love. If I were to tell you, you wouldn’t understand. But one thing is for certain, though my life on earth PleaseRuth do not Ann be unhappy Mahaffey just because I’m out of sight. is over. Remember that I am with you every morning, noon I’m closer to you now, than I ever was before. and night. That day I had to leave you when my life on earth There are rocky roads ahead of you and many hills was through. to climb; God picked me up and hugged me and He said, But together we can do it by taking one day at a time. “I welcome you.” It was always my philosophy and I’d like it for you too; That as you give unto the world, the world will give to you. “It’s good to have you back again, you were missed while you were gone. If you can help somebody who is in sorrow and pain; As for your dearest family, they’ll be here later on. Then you can say to God at night…My day was not in vain. I need you here so badly, you are part of my plan. And now I am contented…that my life was worthwhile. There is so much that we can do, to help our mortal man.” Knowing as I passed along the way I made somebody smile. God gave me a list of things, that he wished for me to do. And foremost on the list, was to watch and care for you. So if you meet somebody who is sad and feeling low; And when you lie in bed at night, the day’s chores put Just lend a hand to pick them up, as on your way you go. to flight. When you’re walking down the street and you’ve got God and I are closest to you…in the middle of the night. me on your mind; I’m walking in your footsteps only half a step behind. When you think of my life on earth, and all those loving years. And when it’s time for you to go…from that body to Because you are only human, they are bound to bring be free. you tears. Remember you’re not going…you’re coming here to me. standing ovation 30

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: Marcail Dickerman, MPS I

My name is Marcail Dickerman, I am 16 years old and a junior in high school. Some of my favorite things to do are to hang out with friends, go to movies and Starbuck’s. I also love to eat out! I am an animal lover. I am happy when I go to Iowa with my family and ride horses with all of my cousins. I have two dogs, a beagle and a maltipoo, who love to cuddle with me while I watch TV. I am on the honor role this semester and have been in choir since junior high. I love to sing with my big brother James; he plays the piano and I sing. I also enjoy texting and Facebooking. I have four nephews ages 6–2; I really enjoy being with them and helping to watch them.

Justin Gentile, MPS II

My name is Justin Gentile and I am 9 years old. I like building trains from Legos and creating an amusement park using KNEX to make roller coasters, ferris wheels and swings. I also enjoy making wood projects, which I began doing at the hospital during my enzyme treatments when I was 4. I now attend woodworking camp every summer, and last summer I made a reversible robot and an electric dog (I named him Spot).

I collect action figures and have a large collection of Ben 10 action figures (my favorite superhero). I also like to collect all types of toy and model trains, which I exhibit in area train shows. Twice a year, I set up all my trains at the largest train show in the state. When the kids come to my exhibit, I ask them for a donation to support the local soup kitchen.

I have taken private karate lessons since I was 5. I am working on earning my 6th karate belt. Last year, I learned how to ice skate and this year I am taking skiing lessons run by my physical therapist. My sister Leah and I also attend swimming classes every week. I enjoy spending time with my sister, cousin Lindsay, and all of my friends. I like music and sing a lot. My favorite foods are pizza and ice cream. I love going to school and my teachers recently told my parents that I’m one of the happiest kids they know.

Izzy Jurado, MPS III

Isabel is 9 years old. Before MPS began to rob her of skills, Izzy loved to be read to, put together puzzles, color and watch Elmo. Fine motor tasks are now very difficult for her but she remains a highly visual child. She has always loved to study people’s faces and will become mesmerized by patterns and designs. Dora, Barney, and The Wiggles have brought a smile to her face for years. continued >> >> These days Izzy just loves to see everyone and go anywhere. She loves going for rides in the car and her golf cart. Izzy loves to be outdoors. She loves her friends and teachers at school. She has been involved in extracurricular actives such as swimming, horseback riding, baseball and cheerleading. She leads her peers each spring in a balloon release for MPS day. Through her foundation Izzy’s life has also made a positive impact on others living with MPS diseases. 31 standing ovation

Kianna White, MPS IV

My name is Kianna White and I am 16 years old. I love to go shopping and find lots of cute clothes. I also LOVE Justin Bieber. Some of my favorite places are Jamba Juice, my home, Panda Express and Red Robin. I really try to be happy every day because I know how fortunate I am to have a family that loves me and supports me in whatever I do. I love life and cherish every moment I am given. The way I see it is I was chosen special for the opportunity to see life in a whole new perspective that no one else can really see. I would never take that back in a million years because this life was chosen for me. Even though my life has a few more obstacles than other people, that doesn’t mean I will settle for “okay;” I am going to live my life just in a different way. My proudest accomplishment is being able to handle all of this and realizing this isn’t a bad thing, but a gift because I wouldn’t be chosen if I couldn’t handle it.

Mitchell Finzel, MPS VI

I was diagnosed with MPS VI when I was 5 years old. At the time the only treatment option was a bone marrow transplant, but the risks made my parents wait. Two years later, thanks to the marvel of modern science, I began the clinical trial for an enzyme replacement therapy. It’s been 11 years, and now I’m getting ready to go to college where I plan to study chemistry and biology in the hopes that I might serve the world in the form of genetics.

Over the years I have come to understand that MPS VI doesn’t hold me back, but rather enables me to live a unique and full life. I enjoy a broad array of activities such as robotics, acting and building computers. Currently I am enrolled in Math League, Knowledge Bowl, Speech, Robotics, the One Act play and Business Partners of America. I try to stay in good physical shape by lifting weights. MPS has molded me into the man I am today, and in the end I wouldn’t trade my life experiences for anything!

Zach Haggett, ML

My name is Zach, I am 11 years old and in fourth grade. I like going to the movies and I HAVE to go on opening day! My mom, brother Chico (a chihuahua) who licks my face constantly, and daddy make me happy. I love cookies and cream milkshakes, eating snack and lunch at school, Syracuse University and NBA basketball, and the Yankees. I also love hotels! I like to lie in bed and watch TV and order room service.

My hip was broken last year and the doctor said it’s broken forever. I say, “When you fall down, you gotta get back up! You just gotta keep going.”

I tell people who ask why I’m so small that that is just the way God made me. My proudest accomplishment is being able to bounce in the stander at school—it’s kind of like walking. January 2012 #58 32 legislative update

As the new chairperson of the Legislative Committee, I realize I have big shoes to fill from our former, very knowledgeable chair, Ernie Dummann. Ernie has graciously offered to stay on the committee, help with the transition, and be a part of our new advocacy efforts for 2012.

Just a little about me…I am married to Austin Bozarth and am the mother Legislative Committee: of Annabelle (age 5, MPS IV A), Maddy (age 3) and Charlotte (4 months). Stephanie Bozarth, chair I am a master-level medical social worker and in my former professional Jeff Bardsley life spent most of my career running through the halls of Children’s Amy Barkley National Medical Center in Washington, DC. Through that experience, Chip Brady I spent my time crisis counseling, advocating, helping parents to navigate Dawn Checrallah the medical system, educating, and creating new ways to better serve Ernie Dummann the families that came to our hospital. It was quite a twist of fate that put Steve Holland me and my family on the receiving end of all those services following Terri Klein Annabelle’s diagnosis at 6 months old. In one sense, it gave me an extra leg MaryEllen Pendleton up on navigating the medical community and advocating for my child, but Kelly Rose it didn’t stop the unbelievable amount of deep pain of learning about the Laurie Turner diagnosis and that there was no cure or treatment. That pain has driven me Barbara Wedehase to want to do more. I feel the urgency to share our stories, to push research Kim Whitecotton forward faster, efficiently and effectively, and to provide opportunities for Roy Zeighami individuals with MPS and related diseases to thrive in our society. That is exactly where legislative advocacy became such a key piece to this very complex puzzle.

I am excited to report that we have hired a legislative advocacy firm to assist us with moving our advocacy goals forward. One very important goal is to empower and train all our members to advocate on behalf of their family member with MPS, themselves and the National MPS Society. Every voice matters and I encourage you to let yours be in heard in 2012 as we continue to advocate for our MPS community. Stay tuned as we roll out advocacy training modules, educational information about new legislation, opportunities to contact your representative and share your story on behalf of important legislation, and continue to educate about MPS and the very urgent needs of our loved ones.

Chair, Committee of Federal Legislation

Stephanie Bozarth Take Action! Let your representative know what matters to you

The Committee on Federal Legislation reviews legislation important to the Society. Ask your representative to sponsor the legislation listed below 33

at www.rarediseaseadvocates.org. Go to the Take Action box on the home legislative update page. You will find a draft support letter and the Web site will automatically find your congress member for you. All you need to do is enter your address and add a personal note about why it’s important to you.

• H.R. 3737, Unlocking Lifesaving Treatments for Rare Diseases Act of 2012

The Unlocking Lifesaving Treatments for Rare Diseases Act of 2012 will improve access to the FDA’s Accelerated Approval process for very rare diseases, provide a more predictable regulatory process, bring down development costs, and spur investment in the development of treatments. Additionally, this bill requires the FDA to use the best science available, ensuring treatments are safe and effective and reach patients sooner.

• H.R. 3059, Support the Creating Hope Act S.606

This legislation provides private market incentives for development of drugs for pediatric rare diseases through the extension of the priority review voucher program to children with rare diseases. The Creating Hope Act is cost-neutral—it does not require any appropriation.

• Ask your congressman to join the Rare Disease Caucus

With the caucus now introduced in the 112th Congress, we need your help to drive membership. The caucus will help to further educate our legislators about the special needs of our MPS community and other rare disease communities with similar issues. You will be able to determine if your congressman is in the caucus at www.rarediseaseadvocates.org.

National Center for Advancing Translational Sciences Established New center to speed movement of discoveries from lab to patients

In December, the National Institutes of Health established the National Center for Advancing Translational Sciences (NCATS). The new center will serve as the nation’s hub for catalyzing innovations in translational science. NCATS will work closely with partners in the regulatory, academic, nonprofit, and private sectors to identify and overcome hurdles that slow the development of effective treatments and cures. To learn more about NCATS, visit www.nih.gov/about/director/ncats/index.html. National MPS Society Hires M+R Strategic Services

After consulting with our key legislative stakeholders, we contacted several 34 legislative advocacy firms that specialize in work with non-profits. Ernie Dummann, Steve Holland and Barbara Wedehase reviewed their proposals and talked with the firms’ consultants. The board of directors reviewed the information and determined that M+R Strategic Services was best suited to move forward the Society’s legislative advocacy objectives.

M+R is a full-service national firm with nearly 20 years of experience helping nonprofit and foundation clients advance their interests and win support for their causes at the city, state and federal levels. Their staff includes specialists in government relations, public relations, media, online and offline engagement, advocacy, policy and field organizing. legislative update M+R Strategic Services is uniquely positioned to assist the Society with grassroots development to advocate for its 2012 policy agenda and beyond. With a great deal of experience assisting disease-specific organizations like the American Heart Association, the Susan G. Komen Foundation and the National MS Society, M+R understands how to engage patients, survivors and their families in grassroots advocacy, building their confidence and skills and creating meaningful yet easy opportunities for them to have significant impacts.

MPS I Nominated for Newborn Screening

In early January the Society submitted the nomination form for MPS I to the Health Resources and Services Administration (HRSA) secretary’s Advisory Committee on Heritable Disorders in Newborns and Children. A committee comprised of Dr. Lorne Clarke, Dr. Paul Harmatz, Dr. Joan Keutzer, Dr. Paul Orchard, Dr. Ron Scott and Barbara Wedehase completed the nomination form which outlines the evidence for formal consideration for screening MPS I in the newborn period. Following receipt of a federal administrative review, the Advisory Committee reviews the nomination form and then an evidence-based review by an external body is initiated. Once the process is completed, the Advisory Committee provides the Society with feedback on the strengths and weaknesses of the nomination. We expect to hear from the committee in May 2012.

Based on the data submitted, including the data provided by Dr. Ron Scott from the MPS I newborn screening pilot study in Washington, we are encouraged that MPS I will be approved. Although the diseases to be screened are ultimately determined by each state, having a disease approved by the HRSA Advisory Committee provides credibility.

For more information, go to www.hrsa.gov/advisorycommittees/ mchbadvisory/heritabledisorders/nominatecondition/index.html. 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! 35 making headlines

LaGrange Family Struggles to Save Twins Born with Rare Genetic Disorder

Sitting inside a room at the Cleveland Clinic Children’s Hospital one An excerpt from an article featured by cold day in December, when most people were busy Christmas shopping, The Chronicle-Telegram, Elyria, Casey Hurst gently rocked her infant son, Bryce. She was there waiting for OH, Dec. 31, 2011. Written by Melissa Bryce’s brother, Baen, to be discharged after being treated for two weeks, Linebrink. To read the complete article, and thinking back to the day when she and her husband learned she was go to: carrying twins. http://chronicle.northcoastnow. While the babies looked healthy on the outside, Hurler syndrome, a rare com/2011/12/31/lagrange-family- genetic disease, was already starting to take over their tiny bodies. The struggles-to-save-twins-born-with-rare- Hurst twins are the only documented identical twins on record who have genetic-disorder this rare disease.

The LaGrange parents learned that the only chance their young boys would have to live longer is by receiving a bone marrow transplant. A leader in successful bone marrow transplants for Hurler syndrome patients, the University of Minnesota is currently involved with a research trial that is the first of its kind to inject enzyme replacement into the spinal cord in an effort to stop the neurological deterioration that comes with having Hurler syndrome.

Bryce and Baen Hurst have been accepted into the clinical trial, where they will receive an unusual bone marrow transplant and enzyme replacement therapy.

Camp Korey

Looking for a free camping environment in the great Northwest with other kids with MPS? Located in Carnation, WA, on the site of the original 818-acre Carnation Dairy Farm, Camp Korey is designed to help campers with medical challenges blossom. Camp Korey offers therapeutic recreation programs throughout the year, including adaptive equestrian programs, universally-accessible ropes course, arts and crafts, swimming, fishing, boating and much more. This year a special MPS week is being offered, July 16–20, 2012. The MPS medical staff from Seattle Children’s Hospital will be at camp, as well as an abundance of specially trained staff/volunteers (often 1:1 camper to attendant, based on needs). The camp session is free for individuals with MPS and related diseases. Campers not local to the area will be responsible for travel expenses to and from Camp Korey. For more information, visit www.campkorey.org. To apply for the MPS week, go to http://campkorey.org/camper-programs/apply. Putting People First

A Letter to the Editor submitted by I’d like to address the issue regarding words people use when talking about 36 Kendra Gottsleben (MPS VI), social individuals who have a disability. In the area of disabilities, there has been media coordinator at Center for a movement of People First Language since 1988 by many advocacy groups Disabilities, that was run in the Argus in the United States. This movement is all about individuals who have a Leader, Sioux Falls, SD, Jan. 17, 2012. disability being known as a person first rather than their disability first. I know for a fact that’s how people with disabilities would like to be perceived because I have a disability and that’s how I want to be acknowledged.

When using People First Language, the goal is to prevent preconceptions that could lead to a feeling of dehumanization when conversing about people with disabilities. So, in other words, it’s a way of creating a form of disability etiquette or politeness. making headlines The simple idea is to use the name of the person first and the condition second. If you’ve noticed, I have done in my earlier paragraphs. But for a clearer example, “people with disabilities” rather than “disabled people.” This first example emphasized that they are people first despite having a disability. Another example would be people with autism rather than autistic people.

I’ve read many different newspaper headlines and not all of them use People First Language. I’ve even cringed at times when reading some. I’d like to see the Argus Leader set the journalistic example for our state by always using People First Language.

When a person uses People First Language, the listener internalizes the notion that the disability is a secondary trait and not a characteristic of that person’s sole identify. People with disabilities want to be known as people, just like everyone else in society. They also want to be treated with the same dignity and respect that anyone else would in the community. No one likes to be labeled, and neither do individuals who have disabilities. Everyone needs to have dreams, goals and people who believe in them and support them.

Alli’s MPS Adventure

Allison Restemayer (MPS I) recently became an author. Each child in her 5th grade class wrote and illustrated their own story, to be made into a hardcover book. To order copies, go to www.askformybook.com, click “Order Now” and enter PIN #1330412. research news 37

MPS International Congress 2011 by

On Dec. 8–10, 2011, my wife Zezee Dr. Bigger described his detailed and I joined parents and researchers experiments in mice using high- from around the world at the dose pure genistein. He showed MPS 2011 International Congress that, after several months of held in Geneva, Switzerland. treatment, untreated diseased mice The conference was organized were hyperactive and showed a lack by FondationRoy Zeighami Sanfilippo (www. of fear, while the mice that were fondation-sanfilippo.ch). The main treated with high-dose genistein focus of the conference was MPS III. were calmer and displayed a normal sense of fear. During the meeting, Dr. John Hopwood presented the first These data were collected based on interventional study on intrathecal studies done in test tubes and mice enzyme replacement therapy (ERT) and may not translate to humans. Roy Zeighami, Charlotte (MPS III) and Fred Morel for Sanfilippo. He presented data Dr. Bigger is collaborating to pull that showed if the treatment was together a full-fledged double-blind non-subject measure. This is started after symptoms present, placebo-controlled drug study of important because it shows that ERT alone is not expected to fully genistein in Manchester. a purely objective and analytical reverse the damage of the disease. Dr. Patrick Haslett, Shire HGT, test can accurately predict an In other words, it may stop the presented on an MPS III A natural important but subjective clinical disease but residual brain and history study. Shire has identified measure, cognitive ability. central nervous system damage several new biomarkers and learned would not be fully corrected. This • Cerebrospinal fluid GAG levels are much about the disease through was a complementary study done by fairly constant with time. In other this study, led by co-principal Dr. Hopwood and Dr. Kim Hemsley words, they do not increase with investigators Drs. Chet Whitley where it was shown that infant, pre- disease progression. and Elsa Shapiro at University of symptomatic mice would develop Minnesota. These biomarkers are • Two new biochemical markers almost normally if treated very early. important, not only to understand were found through an assay of Professor Gregory Werzgyn and what works from a treatment biological material sampled as part Professor Brian Bigger presented perspective, but also to move drugs of the natural history study. data on the use of genistein. Prof. through the approval process. • Patients diagnosed before age Werzgyn stated that the synthetic Key findings of the study include: 6 tend to demonstrate a more version of genistein is highly rapid rate of decline than those superior to the natural version. • Brain volume of MPS III A patients diagnosed after. The data were Assays of the supplement version decrease with time. This decrease provided separately from the of the compound showed very wide was shown to correlate well with mutations so there is no way to variation in the concentration of cognitive decline, as measured correlate them. Presumably that the active ingredient. Also, many of by the ratio of cognitive age to will be done later. the natural formulations contained chronological age. compounds that seemed to have an Study details can be found at www. adverse affect on the disease in vitro. • Brain volume can be clinicaltrials.gov/ct2/show/NCT01 computationally measured by 047306?term=Sanfilippo+Syndrome analyzing MRI data, a completely &rank=3.

continued >> >> Prof. Marc Tardieu and Karen can begin formal toxicology and Aiach, CEO of Lysogene and proceed toward a phase I/II study in mother of an MPS III A girl, spoke humans. The National MPS Society about the gene therapy study being has provided funding for this work, conducted in Paris for MPS III A. “Glycosaminoglycan inhibitors as 38 The treatment is delivered via intra- substrate reduction therapies.” cerebral injection directly to the Dr. Haiyan Fu provided an update brain of affected patients. on the MPS III B gene therapy Study details can be found at www. program that she is leading at clinicaltrials.gov/ct2/show/NCT01 Nationwide Children’s Hospital 474343?term=Sanfilippo+Syndrome in Ohio. Dr. Fu’s approach differs &rank=5. from the Lysogene approach in the use of a novel gene therapy vector Professor Tardieu is a pediatrician to transfer the NAGLU gene. The research news in Paris and is following patients vector they used is AAV9 vector that post-treatment to understand has the ability to cross the blood- efficacy and to assess safety. He said brain barrier. The treatment being it is still too early to understand developed by her team can be whether the treatment is working administered intravenously versus but said that they have seen no through direct injection to the safety issues so far. There are plans brain. Dr. Fu highlighted excellent to begin a phase I/II intra-cerebral results in mice and has begun gene therapy trial for MPS III B toxicology studies in non-human next year. primates. Their goal is to move Dr. Robin Jackman, CEO of toward human clinical trials for Zacharon Pharmaceuticals, MPS III B. presented details of their substrate Dr. Doug McCarty provided an optimization therapy that is update on his follow-up MPS III A intended to target the heparan gene therapy project. He talked Roy Zeighami, Dr. Fu, Dr. Dao Pan and sulfate (HS), which is implicated in Dr. Doug Mccarty about developing new vectors for the pathology of not only MPS III, MPS III A that are much more but also the neurological aspects efficient than the vector used for of MPS I and MPS II. He explained MPS III B, because the SGSH gene that, for any of the MPS diseases, is much smaller than the NAGLU the body can metabolize most of the gene. A more efficient vector HS. However, only a small fraction means the treatment can deliver of the HS cannot be metabolized a therapeutic benefit while using and builds up in the lysosomes fewer vectors. This means it will be causing damage. Their compound even safer and cost less. They have hopes to tweak the chemistry of the been testing systemic delivery of the problematic HS allowing it to be SHSG gene in MPS III A mice using broken down. AAV9 vector, and a new AAVRh74 Their approach is especially vector that also can cross the blood- interesting because it is a small brain barrier. Their preliminary molecule. Some small molecules results showed promise in these have the advantage that they can approaches. cross the blood-brain barrier and Research for Sanfilippo is reaching target the brain and central nervous critical mass. The field is rapidly system without being administered evolving and the next few years intrathecally. It also would have the promise much hope for progress in benefit of potentially treating the the fight against this disease. r disease systematically. Zacharon hopes to identify a drug candidate soon, at which point they Treatment Therapies MPS III Patient Registry MPS I Aldurazyme®, administered once-weekly, has been approved in the United Team Sanfilippo is working with the States and in 15 countries of the European Union for long-term enzyme Coordination of Rare Diseases at 39 Sanford (CoRDS) organization to replacement therapy (ERT) in patients with a confirmed diagnosis of research news MPS I, to treat the non-neurological manifestations of the disease. Aldurazyme build a patient registry for MPS III was developed by BioMarin and Genzyme under a joint venture agreement (Sanfilippo). Information obtained that assigns commercial manufacturing responsibilities to BioMarin, and through the registry would be worldwide sales and marketing responsibilities to Genzyme. available for future U.S. clinical trials, and will accelerate future Additional information can be obtained at www.aldurazyme.com or by research by providing researchers contacting Genzyme at 800.745.4447. with access to an existing database MPS II of pre-screened individuals who are willing to participate in rare disease ® Elaprase is a long-term ERT for patients with a confirmed diagnosis of research. It also will notify patients MPS II which has been approved for use in the United States, Canada and of opportunities for clinical trials many countries in Europe. Elaprase was developed and is produced by should they be eligible. Shire Human Genetic Therapies (formerly TKT), and is given as weekly infusions to replace the missing enzyme that Hunter syndrome patients fail How can I enroll? to produce in sufficient quantities. If you or a family member have Additional information can be obtained at www.shire.com or by contacting been diagnosed with a rare genetic OnePathSM toll-free at 866.888.0660. OnePath provides assistance with disease, you are invited to submit insurance, product access, treatment centers and education about Elaprase information to the registry. Patients and MPS II. or their parent/legally authorized representative should contact MPS VI CoRDS via e-mail at CoRDS@ Naglazyme® is the ERT for individuals with a confirmed diagnosis of MPS VI sanfordhealth.org or by phone at and has been approved for use in the United States and in many European 605.312.6413 and provide: countries. Developed and produced by BioMarin Pharmaceutical, Inc., • name Naglazyme has been shown to improve walking and stair-climbing capacity. • contact information (mailing and e-mail address, phone number) For more information, contact BioMarin Patient and Physician Support at • preferred method of contact and 866.906.6100 or [email protected]. best time to contact

CoRDS personnel will contact the MPS IV A Clinical Assessment Program individual to briefly discuss the (MorCAP) registry, answer questions and send patients a consent form and a short The MorCAP has been designed to provide a better clinical understanding questionnaire. of the natural history of MPS IV A (Morquio A) syndrome by measuring For more information or to ask various aspects of the disorder, including endurance and respiratory questions about the CoRDS registry, function in affected patients. These insights may help BioMarin contact: Pharmaceutical Inc. design future clinical studies. Participation in the MorCAP study will require one or more visits yearly to a clinic or hospital Liz Donohue for up to 10 years. Experimental drug will not be administered during these CoRDS administrator visits. MorCAP is a multinational study and includes sites located in the 2301 East 60th St. North United States, United Kingdom, South America, Canada, Europe and Asia. Sioux Falls, SD 57104-0589 For more information, call toll-free 1.866.961.8212. phone: 605.312.6413 e-mail: [email protected] www.sanfordresearch.org/cords Clinical Trials MPS I MPS I Intrathecal ERT for Children Being MPS I Intrathecal Enzyme Replacement Considered for Transplantation 40 Clinical Trial The University of Minnesota recently has obtained The Los Angeles Biomedical Research Institute at FDA approval for the delivery of laronidase into the Harbor-UCLA Medical Center in Torrance, CA, and the spinal fluid of children with Hurler syndrome being University of Minnesota are collaborating on a Study of considered for marrow/cord blood transplantation. Intrathecal Enzyme Replacement Therapy (ERT) for The goal of these studies is to decrease the cognitive decline in patients with MPS I. neuropsychologic decline that has been observed in children with MPS I from the time the patients are The purpose of this research study is to find out initially evaluated to the time they are one year from whether giving ERT with Aldurazyme® as an injection transplantation. The hypothesis is that there is a

research news directly into the cerebral spinal fluid (the fluid around significant delay in achieving sufficient enzyme levels the spinal cord and the brain) can stabilize (keep in the brain following transplantation, and that this from getting worse) or improve cognitive decline in may be overcome by giving enzyme into the spinal patients who have MPS I. The term “cognitive decline” fluid until this occurs. refers to a change for the worse in the ability to think and learn. Difficulty with thinking, memory, language, Patients with MPS I who are between 8 and 36 months concentration and decision making are some signs of of age who have not previously received enzyme cognitive decline. therapy and are being considered for transplantation at the University of Minnesota are eligible. Patients To be eligible for this study, you or your child must be receiving laronidase in the spinal fluid also will be on willing and able to comply with the study procedures intravenous laronidase prior to transplant. The study and meet certain criteria. You or your child must: will involve four doses of laronidase given during a • be 6 years of age or older lumbar puncture (spinal tap) approximately three months before transplantation, at the time of admission • be diagnosed with MPS I to the hospital for the transplant, three months after • show evidence of cognitive decline on a screening the transplant and six months after the date of the evaluation transplant.

Study participants will have: The principal investigator of the study is Dr. Paul • up to 10 treatments given one to three months apart Orchard, who can be reached at 612.626.2961 or over two years (treatment group) or four treatments by e-mail at [email protected]. Alternatively, given three months apart beginning at month 12 Teresa Kivisto, nurse coordinator with this study, (control group); can be reached at 612.273.2924 or by e-mail at [email protected]. • physical examinations (general and neurological); • neuropsychological testing for cognitive decline and an MRI of the brain; and MPS II • reimbursement/payment of travel expenses. MPS II Intrathecal Enzyme Replacement Additional details about this clinical trial can Clinical Trial be found at www.clinicaltrials.gov; search under Shire Human Genetic Therapies is sponsoring a clinical “mucopolysaccharidosis.” trial at the University of North Carolina at Chapel Hill If you are interested in this study or would like more to learn if direct administration of recombinant enzyme information, contact: into the fluid around the brain and spinal cord is safe and a possible treatment for children with MPS II with Dr. Agnes Chen developmental delays. The principal investigator for 310.222.4160 / 310.782.2999 (fax) / [email protected] the clinical trial “A phase I/II safety and ascending or dose ranging study of idursulfase administration via an Dr. Patricia Dickson intrathecal drug delivery device in pediatric patients 310.781.1399 / 310.782.2999 (fax) / [email protected] with MPS II who demonstrate evidence of central

continued >> >> nervous system involvement and who are receiving rhHNS for patients with MPS III A. rhHNS is being treatment with Elapraise” is Dr. Joseph Muenzer. administered into the cerebrospinal fluid via a surgically implanted intrathecal drug delivery device Currently there is no approved therapy for treating (IDDD), because when administered intravenously the brain and spinal cord in patients with the severe it does not cross the blood brain barrier. form of MPS II. The goal of this study is to give a new 41

preparation of iduronate-2-sulfatase (idursulfase-IT) This study is a multicenter, multiple-dose, dose- research news directly into the fluid surrounding the brain and spinal escalation study designed to evaluate the safety, cord (intrathecal administration). The new form of tolerability and clinical activity of up to three dose iduronate-2-sulfatase has not been used before in levels (two doses [10 and 45mg] monthly and one dose patients with MPS II and is considered investigational. [45mg] every other week for six months) of rhHNS It has not been approved by the FDA or any other administered via a IDDD in patients with MPS III A regulatory agency. ages greater than or equal to 3 years of age.

This phase I/II clinical trial is planning to enroll The phase I/II clinical trial began June 2010. The 16 patients with MPS II between the ages of 3 to 8 years study is expected to be completed March 2012, and the with evidence of early neurocognitive decline using an duration of the study for each patient is nine months. open-label, three-dose trial design. This clinical trial Patients who have completed all study requirements will initially have both a treatment group (12 study in this study will be invited to participate in an open- patients) and a control group (four study patients) with label extension study that will be designed to evaluate the control group eligible to receive intrathecal enzyme long-term safety and clinical outcomes of intrathecal after a six-month observational period. Monthly administration of rhHNS. intrathecal administration of idursulfase-IT will be given using a Port-A-Cath® II Low Profile™ intrathecal The phase I/II clinical study is being conducted at two implantable access system manufactured by Smiths sites: Emma Children’s Hospital, Academic Medical Medical MD, Inc. (St. Paul, MN) that requires surgical Center in The Netherlands, by Dr. Frits Wijberg; and implantation. the St. Mary’s Hospital in Manchester, UK, under the direction of Drs. Simon Jones and Ed Wraith. The To be eligible for the investigational intrathecal enzyme letter to the Society from Shire about the study can replacement clinical trial, study patients need to have be accessed on our Web site under the Clinical Trials some developmental delay, but can not be severely section. impaired, have received and tolerated a minimum of six months of weekly intravenous Elapraise and have Additional information about the clinical trial can be adequate hearing (with or without hearing aids) to obtained at http://clinicaltrials.gov/ct2/show/ complete developmental assessments. Patients with NCT01155778?term=MPS+III+intrathecal&rank=1 MPS II are not eligible if they have a shunt for the or by contacting Tiffany Crump at 484.595.8257 treatment of hydrocephalus, have had a cord blood or [email protected], or Daryll Heron at or bone marrow transplant or have other medical +44 1256 894572 or [email protected]. conditions that may place the individual at an increased risk during the investigational clinical trial. An Observational Prospective Natural History Study of Patients with MPS III B For more information about the clinical trial, contact Dr. Joseph Muenzer at 919.966.1447, or the study Shire HGT announced in January 2012 that it will coordinator, Heather Preiss, RN, at 919.843.5731. sponsor a natural history study for individuals with MPS III B. This study is expected to begin recruiting once required ethics committee approvals are secured, MPS III initially at a site in the United States. When the study begins recruiting patients, the location of the site A Phase I/II Safety, Tolerability, Ascending Dose and details of the inclusion and exclusion criteria will and Dose Frequency Study of Recombinant be posted on www.clinicaltrials.gov. The objective of Human Heparan N-Sulfatase (rhHNS) Intrathecal this study is to evaluate the natural, unaltered disease Administration Via an Intrathecal Drug Delivery progression of MPS III B and has been designed Device in Patients With MPS III A similarly to an interventional clinical trial. This is a longitudinal, prospective, observational, natural history Shire Human Genetic Therapies is developing a study to identify endpoints that may be used sulfamidase enzyme replacement therapy (ERT)

continued >> >> for future ERT trials via standardized clinical Additional information can be found at www.bmrn.com biochemical, neurocognitive, developmental, and http://clinicaltrials.gov/ct2/showNCT00787995?te behavioral and imagining measures. They expect that rm=MPS+IV&rank=1. the results of this study will provide key disease insights, similar to what would be measured in an untreated 42 control group in an interventional clinical trial. MPS VII

On Jan. 5, 2012, Ultragenyx Pharmaceutical, Inc., MPS IV a biotechnology company focused on developing treatments for rare and ultra-rare genetic disorders, BioMarin Pharmaceutical Inc. announced Feb. 1, announced it has in-licensed an ERT program from 2011, that it has initiated a pivotal phase III trial for St. Louis University to treat MPS VII. The in-licensed N-acetylgalactosamine 6-sulfatase (GALNS or program is a treatment for an ultra-rare genetic, BMN 110), intended for the treatment of MPS IV A metabolic disorder that results from the deficiency of

research news (Morquio A syndrome). the beta-glucuronidase (GUS) enzyme. Also known as Sly syndrome, the disorder was first identified in 1973 The study will be conducted at approximately by William S. Sly, MD, a world-renowned researcher 40 centers worldwide, including Brazil, Japan, in inherited diseases, who is currently professor and Taiwan, most Western European countries, Canada chairman emeritus, Department of Biochemistry and and the United States. The trial is expected to enroll Molecular Biology, at St. Louis University School of approximately 160 subjects and will be the largest Medicine. Dr. Sly will collaborate with Ultragenyx on ERT trial conducted. There are no therapeutic the MPS VII development program. options for MPS IV A patients who have a high unmet medical need. “We are pleased to have the opportunity to develop this treatment for MPS VII which has been in the research The phase III trial is a randomized, double-blind, stage for a long time and has yet to be made available to placebo-controlled study to evaluate the efficacy and patients,” said Emil D. Kakkis, MD, PhD, chief executive safety of GALNS in patients with MPS IV A. The study officer of Ultragenyx. “We look forward to working in will explore doses of two mg/kg/week and two mg/kg/ collaboration with Dr. Sly and the MPS community on every other week for a treatment period of 24 weeks. this program.” The primary endpoint is the six-minute walk test, and the secondary endpoints are the three-minute stair Dr. Sly noted, “After so many years of research by my climb test and urine keratan sulfate concentration. laboratory and my research colleagues, I am pleased to finally have the chance to see if MPS VII patients Highlights from the phase I/II study: can be successfully treated with enzyme replacement • Endurance improvements with GALNS were therapy. I have confidence in Ultragenyx’s ability consistent with and, in some cases, better than those to advance the MPS VII program through the observed in pivotal studies of approved ERTs. development process and fulfill our shared goal of • Clinically meaningful improvements in two measures bringing this potentially life-changing therapy to of endurance (six-minute walk distance and three- patients. We look forward to working closely with the minute stair climb) were achieved at both 24 weeks Ultragenyx team on this program.” and 36 weeks as compared to baseline. On Feb. 28, 2012, Ultragenyx Pharmaceutical, Inc. • Clinically meaningful improvements in two measures announced that the FDA Office of Orphan Products of pulmonary function (forced vital capacity and Development granted orphan drug designation for maximum voluntary ventilation) were achieved at 36 UX003 for the treatment of MPS VII. weeks as compared to baseline. • Keratan sulfate levels decreased shortly after the initiation of treatment and fell further as the study ML II/III progressed. There currently are no programs in place for • The frequency and severity of infusion reactions were developing treatment options for ML II/III. comparable to those observed with Naglazyme and Aldurazyme. RESOURCES AND helpful information 43

Genzyme Co-pay Assistance Program for Shire Announces Enzyme Replacement Therapies New Co-pay Assistance For more than 20 years, Genzyme has provided personalized support and assistance to the genetic disease community. As a part of its commitment to Program ensure access to treatment, it has expanded its support programs to include Shire believes that costs associated the Genzyme Co-Pay Assistance Program for enzyme replacement therapies. with rare disease treatments should Individuals in the United States who are enrolled in the 2012 Genzyme not be a barrier to patient access. Co-Pay Assistance Program will receive assistance for their eligible drug In 2011, Shire was able to help related out-of-pocket expenses such as co-pays, co-insurance and deductibles. patients in the United States with In order to provide support to as many people as possible, the Genzyme their co-pay expenses and is pleased Co-Pay Assistance Program is open to eligible U.S. citizens or legal residents to announce enhancements to the who have primary commercial insurance and are prescribed treatment with program for 2012. one of Genzyme’s enzyme replacement therapies regardless of financial status. Shire will assist eligible patients in the United States who have In accordance with the law, the Genzyme Co-Pay Assistance Program is not commercial insurance with 100 available to individuals who are residents of Massachusetts or have coverage percent of their 2012 Shire enzyme for prescriptions paid for in part or full under any state or federally funded replacement therapy co-pay healthcare program including Medicare and Medicaid. If you are not expenses, including co-insurance eligible for the program, do not wish to participate, or need help with out- and deductibles, regardless of of-pocket expenses that are not covered by the program, call your Genzyme financial status. case manager who can review coverage options and refer you to other financial assistance programs that are available. For more information, call OnePath®, the product support Genzyme Case Managers are available to help answer any insurance related center for Shire’s enzyme questions, including questions about the Co-Pay Assistance Program replacement treatments, at and eligibility criteria. Call your Genzyme case manager directly or call 1.866.888.0660 or visit 800.745.4447, Option 3. www.onepath.com.

New Family Support Program

The National MPS Society has created the Emergency Relief Program to help qualified member families facing a crisis. Funding includes, but is not limited to, utility bills (heating, cooling, electricity, phone, water and sewer), home and car repairs, rent and mortgage payments, and bereavement expenses. This program provides relief to members facing a situation that threatens their immediate health and safety, or that causes a terrible hardship. It is intended to provide short-term financial assistance in a crisis situation, and is not intended to address long-term financial challenges.

For more information, contact Laurie Turner, program director, at 207.843.7040 or [email protected]. Applications are available at www.mpssociety.org/support/family-support-programs. www.mpsforum.com

In 2000 the MPS/ML Forum opened its doors to parents who have made lifelong friendships. Eleven years later the forum is still providing ways for families to connect. 44 If you’ve never been to the forum, please drop in and meet everyone. If you haven’t been for awhile, come back home.

“The forum is such a wonderful “The MPS/ML Forum has been “The MPS/ML Forum is the best and useful place. Years ago, a lifeline for me over the years. place where I go to find a wealth before the forum, it was more Knowing where I can go for of information and support from difficult to get instant answers to support, information and the other MPS/ML families that truly questions about what to do with dearest of friends (sometimes understand our unique challenges our children. If they were going in in a very private setting) means in life. The forum is really like for some surgery, procedure, or we the world. I also very much a family and the support I have just had questions until we tracked appreciate the archive of gotten there has helped me down another family and called, valuable information that is easily through some very rough times. or wrote something in Courage, searchable.” I love my forum family!” it took awhile for a response. Now with the forum you post and (mother of Jon and Jason Vanderpool, (mother of Steffany, 6/29/95–2/26/11, you get not just one opinion but ages 24 and 21, MPS III) MPS III, and Steven, 13, MPS III) several. It is wonderful.” “When Jake was diagnosed, one of “To me, the forum has been an (mother of Adam, 31, MPS II, and his doctors told us we were not invaluable lifeline, a connection, an

resources and helpful information Hope, 26, carrier for MPS II) alone. I never understood what extended family, a refuge, a place he meant until I found the forum. to go where people understand “The forum provides me so much DebbieIt is the only Vanderpool place I can truly feel Valeriewhat we are Barnett going through because information on MPS & Hunters. like everyone understands how I they live it themselves on a daily I take that to Alerico’s doctors, feel, regardless of MPS type.” basis. All that and much more than nurses and students and educate words can possibly express.” Joanthem also. Cohen The knowledge that (mother of Jake, MPS III) comes from here is irreplaceable.” (mother of Ricky, MPS III) “A diagnosis of MPS for my son (mother of Alerico, MPS II) left me feeling helpless and “The MPS/ML Forum is the first lacking in knowledge. At the place I turn when I need support “Our forum has been my family forum, I receive the much needed or answers and to share news, lifeline. When all around me physical information, but also good or bad. On the forum, you felt like chaos, my forum friends Taracomfort, Elston understanding, and can often find help from other brought calm, honesty and the companionship that I need Anitamembers Hodgkins right away, even when information, but most of all love, to cope with the many unique they aren’t available, because old Tinacare and empathy. I can never challenges that face me and my posts are archived and can be thank my forum friends enough!” family.” searched.”

(mother of Will, MPS II) (mother of John, 10, MPS III) (mother of Logan, MPS II)

“The forum is a place where I can find answers to my questions, find support, talk to someone who really ‘gets it,’ help others, and get a big cyber hug when I need it most!” Laura Brodie Diane Dalton Robin Piefer (mother of Shannae, 4, MPS I)

Sandi Hunter Disease e-clinic First Hand

Hunter disease e-clinic is a virtual training clinic, designed specifically for Foundation the purpose of learning to diagnose and manage patients presenting with Strives to Change characteristic of rare genetic metabolic diseases. For more information, Children’s Lives 45 visit www.sickkids.ca/lysosomalresearchgroup. around the World, resources and helpful information One Child at a Time The Miracle League In 1995, Cerner Corporation, a The Miracle League is an organization that affords children with disabilities leading supplier of healthcare the opportunity to play baseball. Players are paired up with a buddy and information technology, founded everyone has a chance to play—batting, running the bases, etc. Even the First Hand Foundation. children without the use of their arms or legs can participate. The Miracle A nonprofit organization, First League has more than 200 leagues across the country, as well as Puerto Hand assists individual children Rico, with 100 specialized rubberized fields (for safety) and 100 fields with health-related needs when under construction. It serves more than 80,000 children and young adults insurance and other financial with various disabilities. resources have been exhausted. For more information, visit www.miracleleague.com, call 770.760.1933, or The Foundation helps with clinical send an e-mail to [email protected]. necessities (such as medication and surgeries), medical equipment Drug Safety Information and travel related to a child’s www.fda.gov/cder/drugSafety.htm care. Additionally, the Foundation implores doctors, hospitals and The U.S. Food and Drug Administration (FDA) has added a new feature to equipment providers to discount its Web site that provides consumers with specific safety information about their services below listed prices. individual drug products. The new Drug Specific Information Web page Funding is distributed directly to presents information on more than 200 approved drugs. Each drug has a the child’s immediate healthcare “core page” with links to all information about the product on the FDA’s provider. Web site, including general risk information and any past alerts issued about the drug. Since inception, the First Hand Foundation has distributed Health Care Coverage Options $10 million to 85,000 individuals www.nahu.org/consumer/healthcare in 66 countries. The National Association of Health Underwriters has created a database For more information or that provides information on health insurance options for low-income to apply for funding, go to U.S. residents and people who change jobs or have pre-existing health www.cerner.com/firsthand. problems. The Health Care Coverage Options Database provides a state- by-state list of public health insurance programs for low-income residents, such as Medicaid and the State Children’s Health Insurance Program. It Genetics Home also lists 32 states that offer high-risk health insurance pools for those with Reference pre-existing health problems. http://ghr.nlm.nih.gov/handbook MedGift This Web site contains a comprehensive “Guide to Founded by ovarian cancer survivor Diem Brown, MedGift offers a way to Understanding Genetic accept, organize and keep track of offers of assistance from friends, family Conditions,” with basic information and co-workers. MedGift also has a gift registry through which family about genetics in clear language and friends can help those suffering from serious illness pay for hospital and links to online resources. bills and prescriptions, as well as treats to brighten their spirits. For more information, visit www.medgift.com/web/guest/vision. Grottoes Brings Smiles to Special Needs Children

The Grottoes of North America Humanitarian Foundation is a not-for-profit organization dedicated to funding dental care for children with special needs. Headquartered in Gahanna, OH, the group believes “that children with 46 special needs should live life as fully and as independently as possible. We are passionately committed to helping alleviate the suffering and improving children’s quality of life by providing dental care for those who otherwise might go without, One Smile at a Time.”

The Foundation’s Dental Care for Children with Special Needs program, established in 1970, helps cover the costs of dental treatment, including hospital and anesthesia costs when needed, for children under age 18 with cerebral palsy, muscular dystrophy (and related neuromuscular disorders), organ transplant recipients or those with mental retardation. In addition to providing funding, the program’s volunteers can help to connect special needs children and their families with trained dental professionals.

Last year, the Grottoes’ Humanitarian Foundation paid $895,000 to assist 1,428 special needs children. The program does not place a limit on the amount of support per child, but there are maximum fees for allowable dental procedures. The only stipulation is that patients not be enrolled in Medicaid.

For more information about the Dental Care for Children with Special Needs program, contact the Grottoes of North America Humanitarian Foundation, 430 Beecher Road, Gahanna, OH 43230; call 614.933.0711; e-mail [email protected]; or visit www.hfgrotto.org.

Mercy Flight Mini-Miracles

resources and helpful information Southeast Offers Mini-Miracles is an adaptive clothing line designed for the special needs Free Flights for child. Their philosophy is to promote dignity, comfort and quality of life Those in Need for every child, while giving back to the community by donating to local Canadian charities. The mission of Mercy Flight Southeast is “Coordinating free Mini-Miracles clothing line consists of items chosen to meet the basic air transportation for children needs of the special needs child. They reflect the research and experience and adults with medical or that the owner, pediatric special needs nurse Victoria Allen, has acquired compelling humanitarian needs.” working with special needs children. For more than 25 years, Mercy The clothing is made of the highest quality Peruvian cotton and has Flight Southeast has coordinated different options available for different needs (e.g., gastro-intestinal feeding these FREE missions, which are tube access pocket, cut to fit diapers, etc.). generously flown by a team of volunteer pilots who give of their Featured adaptations: Suitable for: aircraft, their skills and their fuel, • Flat seams to reduce friction • Limited range of motion and • Discrete adaptations so clothing impaired dexterity to help those who are in need. looks normal • G-tube feeding For more information, visit • Easy access—snaps, Velcro, • Wheelchair www.MercyFlightSE.org. stretchy fabrics • Cerebral Palsy • Roomy seat to accommodate • Muscular Dystrophy diapers (all ages) • Developmental disabilities • Longer rise in the back to • Contractures accommodate • Toilet/changing needs sitting in a wheelchair • Catheters and colostomy bags • Elastic waist for ease of dressing • IV tubes and increased comfort • Rigidity • Meets Health Canada regulations for safety and flammability

Visit www.minimiracles.ca for more information. Morgan’s Wonderland: Brave Community Finally, a place where everyone can play! Offers Customized

Located in San Antonio, TX, Morgan’s Wonderland is the world’s first ultra Information about accessible family fun park designed specifically for children and adults Rare Diseases 47 with special needs, their family members, caregivers, friends and the entire resources and helpful information BraveCommunity.com provides community. This 25-acre park is a unique oasis which, through the spirit of a dynamic source of news, inclusion, allows people of all abilities to play, learn and share life-changing information and personal insights experiences together, in a fun and safe environment. about certain rare diseases for For more information, go to www.morganswonderland.com/index.html. patients and their families, friends and healthcare professionals. The Web site searches the Internet and Tissue Bank Aims to Improve Treatment of posts Web content and news stories Developmental Disorders relevant to certain rare genetic diseases to help you stay informed. The National Institute of Child Health and Human Development (NICHD) BraveCommunity.com also provides Brain and Tissue Bank for Developmental Disorder at the University of disease summaries, information Maryland in Baltimore is a tissue resource center designed to further about the clinical trial process and research aimed at improving the understanding, care and treatment of relevant publications. Users can developmental disorders. sign up to personalize content and share own stories. The NICHD Brain and Tissue Bank serves as an intermediary between the research community and people who wish to donate tissue for Learn more at research upon the time of their death. The Bank safely stores the tissue www.BraveCommunity.com. until qualified researchers request the tissue for research which has been approved by their Institutional Review Board. Both people with developmental disorders and people free of disorders are encouraged David’s Project to register and donate tissue. Often times it is the comparison of the Offers Camperships unaffected with the affected which unlocks the medical mystery of a disorder. In honor of their son, David, John Downing and Michelle The availability of tissue from donors with MPS and other storage diseases is McGehee founded David’s Project especially limited. As more tissue becomes available and more researchers to help children and adults with dedicate their life’s work to this disorder, new discoveries can lead to new MPS or related diseases enjoy treatments and, perhaps one day, to a cure. It is only through the study of the summer camp experience as donated tissue that important answers will be found. David did for many years. At this If you are interested in becoming a registered donor, or if you have time, camperships are limited to questions regarding the donation process, contact Melissa Davis, project camps in the Pacific Northwest. coordinator, at 800.847.1539. Visit www.davidsproject.org or call 360.643.3798 for more information. Aaron Jackson Ryan Mask Susan Woodward Fred and Joyce Koehler* Dorothy Mask* Kaylee Kacer Ellen Sidman* Gary and Paula Kacer* donations Russell and Kaydi Kacer* Mitchell Moore II Mitchell and Cherylynne Mitchell* 48 Jonathan and Joe Karas Tyler Kent Deskins Beth Karas Cade Morrissey in memory of… James and Helen Carr* Michael Palumbo Rozann Sheppard Paul Adams Heather Dettmer Donald and Rachel Swicker* Karin and Stuart Adams* Chris and Vance Myers Ray Dettmer Mr. and Mrs. Philip Archard* Barbara Keeney Donald Myers Amy Barkley Raimund and Inge Kasner Drew Dickol Daniel Nardin Frances McCauley* Laura Dickol Amanda Keith Bernadine Nardin* Ralph and Martha Anderson* Joey Angiolino Eddie Ducham Nancy Notley Andrew and Louise Zygmuntowicz* Diane Bates Janet Forde* David and Frances Notley* Kevin Keith Kris Arnold Sean Dummann Margaret Offutt in honor of Don and Sue Colbath Nick and Beth Lombardo* Ernie and Debbie Dummann* Marcus Garvin James and Sherry Conrad Shirlene Campbell Mckenna Bailey Zach and Ben Durcholz John and Marianne Greyer Timothy and Roslynn Garvin Steve and LaVonne Blechinger* in memory of Zach and Craig and Norma Hackler Lisa Irvin in honor of Ben Karen Hughes Danette Baker Karolynn Moore Kent and Nina Peter* Janet Johnson David Berkowitz Sean Offutt Geraldin Kahlig Niko Borrelli Russell Forkas Melisa Stewart Nancy Kocurek Meteor Solutions Lennie Forkas Florence Macklin Jeffrey Orr Mark Bernbaum Katie Foshay Ralph and Ida McGarity J.M. and E.R. Williams* Joel and Leeann Bernbaum* Mr. and Mrs. Steven Foshay* June Miller Alan and Debbie Schmidt* Stephen and Ruth Mueller Evan Reed Rishi Garg Gary and Lana Marble* Edward and Kirsten Nelson Terry Bodine Harry and Janice Vanhorne* Pat and Cindy Shannon Robert and Katie Lawson Bill Reifsteck Gabriela Giannone James and Carolyn Strickland Jim and Janet McColgan* Edie Burke Cathryn Cavanagh and Peter Coppola* Sandra Thompson Richard Rotelli Kevin and Kim Burke* Danny Gniazdowski Westlake Hills Presbyterian Church Laura McKeithen* Searcy and Deane Willis Rebecca Rotelli Mignanelli Allen Cook and Lisa Albitz* Greg Sharrits* Gary and Debbie Ball Russell and Dougie Kennedy Christopher Rousseau Steve and Anna Webersen* John and Patricia Constantine* Chuck and Millicent Kennedy* Michael and Claire Constantine* Matthew Caldwell Robert Martineau and Pamely Eddy* Jim Kirch in honor of his Sally Rowland Robert and Marjorie Austin Jennie Gladysz* granddaughter Allison Kirch Carey and Hickman Rowland* Lori LeDoux Robert Martineau* Lorraine Baron Dan Rudny Owen Caldwell Tom Hagermann Kraig Klenke Michelle Towell Bob and Jo Fossity Charles and Shirley Hagermann* Stephen and Denise Clayton Michael Fries Disha Sagarwala Tom Hart Maurice Frey* James Woods and family Sagarwala family* Ellen Faulds Leslie Phillips* Bradley Chapman Hannah Salcher Paul Hartmann Morgan Klessens Kenneth and Victoria Warner* Christina Salcher Karen Rosenberg Joel and Lisa Klessens* Tyson Cowan Douglas Sampson Bradley Hedrick Joe and Maggie Langford Joey Howell Shelby Haslett* Ronnie and Jaye Beck Jody Shapiro and Joel Bloom* Mikhail Sawyer Matthew and Bonnie Hoegl James Stultz* Camden Crockett Anonymous John and Marianne Hoegl Christina Leighton Billi and Jeremy Crockett* Jaret Schidlmeier Elizabeth Hogan Ken and Julie Leighton* Karly Davis Tom and Donna Schidlmeier* Joan Giammarino Mark Lessing J. Maston and Nancy Davis* in honor of Casey Lessing Laura and Michael Sheekey Spencer Holland and Art and Marilyn Sheekey Greg and Scott Day in honor of Maddie and Keith and Barbara Pushee* Michael Day* Marie Wegener* Laynie Holland Randall and Steven Linda Parsons* Peggy Holland* MacDonald Brian Stanley William and Alberta Stanley* Stefanie DeAngelis Ruby B. Hunt Carol Elwell* Thomas and Carolyn Russo* Martha Garwood Glen Malina Clinton and Zachary M.K. Desai Orangeburg County Relay for Life George and Barbara Malina* Szemanski V. Desai Committee Mary Ellen Barringer* Lois Finney* continued >> *annual fund donor >> Natalie Talcott Russell and Alex Browne The Efird family Livia Hubert Noel and Nancy Talcott* Mary Ann Messick* Debbie Allen* Jessie Dehaan Timothy Riga Shauna and Jonathan Taylor Andrew Eisler’s 7th birthday Sasha Huff Ellis and Jeanette Taylor* Sharon Browne Howard and Susan Eisler* Sandy Huff* Rose Co Richard Wain in memory of Braden Farrell Sara Beth Hughes Samantha Mo his nephew Matthew and Bruce and Tasha Farrell Anne Hughes White 49

in honor of Stacy Wain Aidan Carter donations Mitchell Finzel Sydnee Jensen Tammy Desbrough Christie Castanino Donald and Romona Finzel* Joe and Susan Babic* Beth Makela Margaret and Skip Wilkis* Susan Gilbert and Nic McPhee Phil and Renee Busch* Caroline Rehberg Bob and Kate Zimmerman* Bobby and Pat Coffey* Mitchell Finzel’s Eleanor Walker Sam Caswell Peggy Joy Fehlman* high school graduation Mildred Baird Denise Caswell* Warren and Lamar Hall* Bart and Sally Finzel* Ronald and Linda Orkney Jack and Sherry Harrison* T.J. Catanzarite Martha White Kimberly Fowler Skip and Jane Jones* Tom and Laura Catanzarite Jeff Fowler Linda Levin Andrew Watkins Pamelia Farthing Steve and Betsy Fowler* Jay and Pam Lyden* Rick and JoAnne Dougherty* Wooster Elks Lodge Debbie May* Jack Frye Susannah White T.J. Catanzarite’s birthday Butch and Debbie Osander* Richard and Claudia Ackerman Klane and Amy White* Anthony and Shirley Catanzarite Jerrold and Marilyn Cohen* Riley Joiner Michael Zechender Bryce Chesser Stephen and Joan Spitzberg Rick and Jeanne Joiner* Kathryn Bullard* Steve and Karole Chesser* Myrna Stelman* Ryan and Brayden Kapes Don and Dottie Weissman* Kathryn Ward* Denise Taylor Ryan and Christina Kilpatrick* Jim and Alexandra Zambrano* Marcus Garvin Tom and Barbara Palmer* Rebecca Clarke Zeta Allen The Kapes family in honor of… Mackenzie Clarke Theresa Russell J.N. and H.W. Peters* Rachel Adams Margaret Koehler Bryant Graeber Mr. and Mrs. Pete Loomis Allison Kirch Serrina and Autumn Cooper Blake and Ashley Graeber* Joe and Kay Bonville* Joey Angiolino Julia Rice* Jacqueline Graham Rich and Beth Kania* Diane Bates John Cowin Greg and Toni Graham* Herbert Kirch* Conner Anhalt Beckie Adams* Tom and Linda Kirch Judy Grundfest Janine Levitch* Ann O’Malley* Mel and Millie Anhalt Amanda Crawford Peter and Sarah Storlie* Conner Anhalt’s birthday James Schaefer and Karina Guajardo Mel and Millie Anhalt Elaine Hendricks* Allison Kirch and family Jerry and Charlotte Campbell George Johnson* Scott and Susan Hoffmann* Millie Anhalt’s birthday Antonietta Ellard* Kenneth Ledford* Michael and Sheila Epstein* John Iannelli Jennifer Klein Julianne Grundfest Lynn Crumbling Cynthia McCabe Karina Guajardo’s birthday Sydney Levy Robert Crumbling Ross and Belia Coddington* Kraig Klenke’s 20th birthday Mel and Millie Anhalt’s Bryce Czekanski Brian and Kristine Klenke* Jake Hampton birthdays Paul Rector Wallios and Monica Hampton* Henry Koker Caroline Masur* Mark DeFilippis Friends of Powertrain Charity for Kids, Inc. Rylie Hays Davis Barkley John and Amelia DeFilippis* Chris Douville Ava Kremer Shawn Barkley* Denise Dengel Jade Hays Clint and Nikki Kremer* Lori Fresina Maria Meconi* Meg Kramer* Rylie, Lyle and Jade Hays Autumn Raeann Leader Darlene Sweeney Roxanne Maffitt and Robert Harvey* Larry and Barbara Hays* Alfred and Cindy Dennison* Larry and Mary Sweeney* Davis Barkley in honor of Rebekah Lehto Jerry Deutser’s birthday Bob Hess’ 50th birthday James Maffitt’s birthday Don and Eloise Berg Thomas Boster Joel and Kay Levy Amy Barkley John Brown Dr. Keith Levine Daniel Dobrowolski David and Rosemary Deahl Grace Bellontine Healthcare Trust of America Paul and Kathy Dobrowolski Alan and Ann Nager Grace for a Cure Tim and Fran Wilcox Madison Lewis Julia Dopheide Colin Berning Wayne and Paige Lewis* Julie Dopheide Ricky Hodgkins Lloyd and Janet Berning* Carolyn and Mike Managan* Mr. and Mrs. Barry Lewis’ Julie Durnen Jackson Dunn-Kraus anniversary Linda Delp Michelle Hopkins Michael Bodura Jr. Mel and Millie Anhalt Patrick Dunn John Baird* William Lowenberger* Olivia Lovell Lindsey Efird The Hopkins family and Susan Taylor* Kimberly Morgan Helen Allison Eleanor Tobin* continued >> *annual fund donor >> Olivia Lovell’s birthday Maria Ratto NEW MEMBERS Rebecca Jorgensen Deborah Ratto Jack Mahoney John and Mary Ratto Ann Alden Tina Ratto Ana Becerra Charles Litchfield Mary Kramer* Long Beach, CA, mother of Bonneau, SC, father of Madison Mindy Rennaker and Manuel Becerra Jr., MPS III Litchfield, MPS IV B 50 Sarah Mallia in memory of Jill Rennaker Catherine Rizzo* Ralph and Bonnie Rennaker* Brook Benefield Ruth Major Moss Point, MS, adult with MPS IV Maumee, OH, mother of Aric Daniel Logan Marcotte Amelia Rice Arthur Cabral Major, MPS II Patrick and Michelle Baldwin* Jimmy and Willow Rice San Ramon, CA, adult with MPS IV B Tekia McIntyre Caroline Masur Matthew Rosoto Deanna Cisneros Cincinnati, OH, mother of Ashan Mel and Millie Anhalt Kathleen Buckley League City, TX, mother of Abner, MPS I Cadyn Cisneros, MPS IV A Erika Miranda

donations Morgan and Blake Ian Smith McDermott James Kremers* Gabe and Natalie Corbett Killeen, TX, mother of Joshua Miranda, Leo and Janet Cook* MPS II Jennifer Steiner Midlothian, VA, parents of Isaac Corbett, MPS I Barry and Carol Mitchell Malloy and Susan McKeithen Bob and Susan Steiner* Lake Forest, IL, grandparents of Declan J. Harold McKeithen Kamran Elahi The Terrien family Lahore, Pakistan, parent of Mitchell, MPS II Waverly and Oliver McNeil Edward Osander Muqadas Kamran, MPS IV Constance Offenbacker Russ and Kasey Hitt Erica Thiel Jeanette Espinola Alexandria, VA, grandparents of Waverly and Oliver McNeil’s Tony and Claudia Busse* Fairfax, VA, mother of Dominic Kasandra Offenbacker, MPS III A birthdays John Thornton Henriquez, MPS II Alex and Edith Pakasuk Andrew and Laurie McNeil Beverly Gerard* Thomas and Kelly Gamache Laconia, NH, parents of Lejukole Danny Miller Michael and Sheila Thornton Geneva, OH, parents of Bethany Pakasuk, MPS II David and Rosemary Beatty Gamache, MPS III C Linda Perry Julie Thorsrud Don and Joan Miller* Albuquerque, NM, grandmother of Katheryn Ruthruff* Andrew and Stephanie Glock John and Diane Stabb* Williston, VT, parents of Travis Glock, Jack Todd, MPS II Declan Mitchell Max Tilsner MPS I Dana Riddick-Fernandez Herb Tilsner* Abby Kovacs Linda Gonzales Park Ridge, NJ, mother of Hunter Fernandez, MPS II Lucas Montgomery Jack Todd Chula Vista, CA, mother of Lise Aissen Bill and Cheryl Lehman Krystal Marie Gonzales, MPS I Rodney and Rochelle Ryan Elizabeth Royer Holly and Scott Hanewacker Clearfield, UT, parents of Madison Jessica Moore Shannon Tootill Ortonville, MI, parents of Ryan, MPS I Rick and Cathy Schuett* The Sciammas family Derek Hanewacker, MPS I Kirstin Simpson Richard Morris Inchicore, Dublin, Ireland, sister of Ethan Waddell Brian and Casey Hurst Nina Hulsey Mark Simpson, MPS VI Beverly Waddell Lagrange, OH, parents of Bryce and Theresa Morris Baen Hurst, MPS I Chris and Amanda Taylor Sean Wallace Nina Hulsey Janice Jacks Columbus, MS, parents of Christopher John and Patricia Wyers* Clay Taylor, MPS II Austin Nace Connelly Springs, NC, mother of Leslie Weiss’ birthday Andrea Jacks, MPS III D Ashley Thomas The C. Edward & Gloria Herder Mel and Millie Anhalt Bradenton, FL, mother of Ja’Darien Foundation, Inc. Paul and Nga Keith Austin, TX, parents of Kevin Keith, Anderson, MPS II Austin Noll IV Mr. and Mrs. Sidney Weiss’ anniversary MPS II Cameron and Rachelle Trejo Larry Pung* Mel and Millie Anhalt Jeffrey and Stephanie Kell Mesa, AZ, parents of Tosh Trejo, MPS II Charles and Paul Page Matthew Wells Saint Paul Park, MN, parents of Jodi Westerlund Mary Jo Page* Richard and Rebecca Wildman* John Kell, MPS III A Naches, WA, adult with MPS VI Mr. and Mrs. Henry Paris Tracey Kemper Amy White Scotty Whitecotton Mel and Millie Anhalt Owenton, KY, mother of Erin Kemper, Greenville, OH, mother of Lennie Forkas MPS I Timothy White, MPS II Branden Patterson Kelly King Ralph and Jane Daniels* Melissa Koker Christine Wood Scotty Whitecotton and McPherson, KS, mother of Capron, VA, mother of Kaleb Wood, Erin Peters in memory of Russell Forkas Henry Koker, MPS III A MPS III A Mr. and Mrs. Sergio Stasi* Tom and Kim Whitecotton Brian Engel* James and Kelly Larrow L. John Zogg Maddy Wigglesworth Lakeland, FL, parents of Liam and Salt Lake City, UT, grandfather of Logan Piefer Dr. Ned and Emelyn Blymire* Mali Ida Larrow, MPS I Anika Rose Motsinger, MPS III A Sally Armstrong Reed Zeighami Caroline Lewandowski Stacey Aruch Roy and Zezee Zeighami Lockport, NY, mother of Michael Lewandowski, MPS II continued >>

*annual fund donor Alan and Karen Gibson* Partners in Marketing >> fundraisers donations Jack and Lynn Griffin* Thomas and Vickie Patterson A Wish for Evan dinner David and Ada Alden* Coy Heldermon Alan and Diana Pendley* Breakfast with Santa in honor of Angel’s Hands Foundation Dianna Hines Personal Assistance Services Jack Todd Christa Armstrong David and Donna Hines of Colorado Cabi Clothing Party in honor of Marjorie Austin Scott and Lynn Hopkins* Samuel Ramsey Michelle Hopkins Sandy Babel* Wayne and Lori Hummel* Bernard Ray 51

Car wash in honor of Cadyn Cisneros Scott and Sherri Baggett* James and Mary Kalteux* Julia Rice* donations Lukondi gift basket raffle in honor of Sandra Barstow Paul and Leslie Karas* Mr. and Mrs. Kay Rogers* Allison and Lacey Lukondi Peter and Jackie Bates* Paul and Nga Keith Millie Ryan* Mekel’s Music for MPS VI in honor of Tom and Kiana Boland* Greg and Christy Kelley Dr. and Mrs. A.L. Sarantinos* Mekel Stevens Marie Bonville* Mary Kimmet Mark Schlafer* Olivia Lovell birthday fundraiser Paul and Nancy Burke* Larry and Susan Kirch* Don and Janet Schmidt* Studebaker Middle School Advanced Rick Call Norine Lippens* Peter and Catherine Schreiber* Reading Class fundraiser Joe and Kelley Capone* Richard and Julie Mancini Ron Shebik* Together in Harmony concert in honor Deanna Cisneros Eileen Marchica* David and Becky Silkey* of Erin Peters Steve and Brooke Cornwell* David and Donna Michelmore* Lachlan Smith Bob and Laura Cowin* Patricia Mioduch Mike and Barbara Smith Laurence and Connie Delvaux* Barry and Carol Mitchell Nita Todd* matching gifts Elizabeth Demkin* Gary and Carol Moll* David and An Tootill* B.H. and Barbara DeVries* Robert and Linda Montanino* Tim Turner Abbott Laboratories Fund Matching Michael Dickerson* Richard and Eva Morgan* Judy Turschack Gifts Program Jonathan Dols* Carol Morrison* Elise Urhan EQT Foundation Mary Dozbaba* Gary Mortensen* USA Couriers* Hewlett-Packard Sarah Dunwody Marilyn Nehus Gary and Tracy Wells* Houghton Mifflin Dutch’s Daughter Elizabeth Neufeld Hubert and Elaine Willman* Microsoft Karen Emmes* Anne Novak* Fanny Zambrano Prudential Foundation Matching Gifts Joyce Fox* Zachary Palmese David Zimmerman* UBS Financial Services

*annual fund donor

national mps society membership form

b $50 Family your name b $80 Foreign b $75 Professionals affected individual’s name date of birth Corporate Memberships Available

diagnosis relationship Would you like your name to appear in our online directory? b Yes b No

address Would you like to receive Courage, the Society’s newsletter? b Yes b No city / state / zip Would you like our publications in b electronic (e-mailed) format or phone b hardcopy (mailed) format

e-mail

Please send your membership form and check to: National MPS Society / PO Box 14686 / Durham, NC 27709-4686

Join or renew your membership online at www.mpssociety.org/become-a-member. Mucopolysaccharidoses (MPS) and related diseases are genetic lysosomal storage diseases caused by the body’s inability to produce specific enzymes. 52 classifications

Syndrome Syndrome Normally, the body uses enzymes to break down and recycle materials MPS I MPS IV A in cells. In individuals with MPS Eponym Eponym Hurler, Scheie, Hurler-Scheie Morquio A and related diseases, the missing Enzyme Deficiency Enzyme Deficiency or insufficient enzyme prevents a-L-Iduronidase Galactose 6-sulfatase the proper recycling process, resulting in the storage of materials Syndrome Syndrome in virtually every cell of the body. MPS II MPS IV B As a result, cells do not perform Eponym Eponym properly and may cause progressive Hunter Morquio B damage throughout the body, Enzyme Deficiency Enzyme Deficiency including the heart, bones, joints, Iduronate sulfatase b Galactosidase respiratory system and central nervous system. While the disease Syndrome Syndrome may not be apparent at birth, signs MPS III A MPS VI and symptoms develop with age as Eponym Eponym more cells become damaged by the Sanfilippo A Maroteaux-Lamy accumulation of cell materials. r Enzyme Deficiency Enzyme Deficiency Heparan N-sulfatase N-Acetylgalactosamine 4-sulfatase (arylsulfatase B) Syndrome MPS III B Syndrome Eponym MPS VII Sanfilippo B Eponym Enzyme Deficiency Sly a-N-Acetylglucosaminidase Enzyme Deficiency b-Glucuronidase Syndrome MPS III C Syndrome Eponym MPS IX Sanfilippo C Enzyme Deficiency Enzyme Deficiency Hyaluronidase Acetyl CoA: a-glycosaminide acetyltransferase Syndrome

Syndrome ML II/III Eponym MPS III D I-Cell, Pseudo-Hurler polydystrophy Eponym Enzyme Deficiency Sanfilippo D N-acetylglucosamine-1- Enzyme Deficiency phosphotransferase N-Acetylglucosamine 6-sulfatase BOARD OF directors

Steve Holland, president Hope and Dave Madsen STAFF Amy Holland 16610 North 11th Street 1752 Hilltop Circle Lakeland, MN 55043 executive director Fort Worth, TX 76114 651.331.9625 Barbara Wedehase 817.625.6999 [email protected] [email protected] [email protected] [email protected] development director [email protected] MPS I parents MPS I H-S parents Terri Klein MaryEllen Pendleton [email protected]

Stephanie Bozarth, vice president 56 E. Vinedo Lane program director 6203 Larstan Drive Tempe, AZ 85284 Laurie Turner Alexandria, VA 22312 480.831.2157 [email protected] 703.256.1980 [email protected] [email protected] MPS III aunt administrative assistant MPS IV parent Kelly Rose Lisa Todd [email protected] Tom Gniazdowski, treasurer 11111 Jordan NE accountant Anne Gniazdowski Albuquerque, NM 87122 Angela Guajardo 315 Meadowview Court 505.797.3603 [email protected] Springboro, OH 45066 [email protected] 937.748.8809 MPS II parent [email protected] SCIENTIFIC [email protected] Kim Whitecotton MPS II parents 1413 Emigrant Way ADVISORY BOARD Modesto, CA 95358 Austin Noll, secretary 209.544.2708 Alessandra D’Azzo, Ph.D. 3735 Redwood Circle [email protected] Gideon Bach, Ph.D. Palo Alto, CA 94306 MPS II parent Lorne A. Clarke, M.D. 650.521.0089 Robert Desnick, M.D., Ph.D. [email protected] Gordon Wingate Patti Dickson, M.D. 16319 Jordyn Lake MPS III parent Matthew Ellinwood, D.V.M., Ph.D. Tomball, TX 77377 Mark Haskins, Ph.D., V.M.D. Jeff Bardsley 832.498.1724 John Hopwood, Ph.D. 1209 Daviswood Drive [email protected] McLean, VA 22102 MPS III parent Joseph Muenzer, M.D., Ph.D. 703.547.7087 Elizabeth Neufeld, Ph.D. [email protected] Roy Zeighami Beth A. Pletcher, M.D. MPS II adult 6420 Diamond Drive Kathy Ponder, M.D. McKinney, TX 75070 Mark Sands, Ph.D. Dawn Checrallah 972.965.5253 Edward Schuchman, Ph.D. 58 Leroy Drive [email protected] Calogera Simonaro, Ph.D. Riverside, RI 02915 MPS III parent William Sly, M.D. 401.639.2689 Charles H. Vite, D.V.M., Ph.D. [email protected] President Emerita Steven Walkley, D.V.M., Ph.D. MPS I parent Marie Capobianco Ernie Dummann David Wenger, Ph.D. Kristine Klenke Steve Holland Chester Whitley, M.D., Ph.D. 7604 Sherry Creek Road Mary Majure Couture John H. Wolfe, V.M.D., Ph.D. Worden, IL 62097 Linda K. Shine Ed Wraith, M.D. 618.888.2204 [email protected] MPS II parent NON-PROFIT ORG. National MPS Society U.S. POSTAGE PO Box 14686 PAID Durham, NC 27709-4686 CHAPEL HILL, NC PERMIT #74