Summer 2012 Courage

courage Summer 2012

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Text to Give Society launches new mobile fundraising tool

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Facebook art contest showcases MPS talent

Many new resources added to facilitate living with MPS

Express for MPS

Helping Hand

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Host a Regional Social Event! Bringing MPS families together is easier than ever

Volume 36 | No. 2

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Suggested Reading Two authors release books of inspiration, hope

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

Spring s u b mi s s i o n c u t of f dat e

January 1 issue

Summer s u b mi s s i o n c u t of f dat e

April 1 issue

Fall s u b mi s s i o n c u t of f dat e

July 1

To submit information to Courage, please send text (preferably via e-mail) to the address below. Photos should be labeled whenever possible. Please note cutoff dates. Any information received after these dates will be included in the subsequent issue. The articles in this newsletter are for informational purposes only, and do not necessarily reflect the opinions of the National MPS Society and its board of directors. We do not endorse any of the medications, treatments or products reported in this newsletter, and strongly advise that you check any drugs or treatments mentioned with your physician. Courage reserves the right to edit content as necessary.

issue

Winter s u b mi s s i o n c u t of f dat e

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

contents T A B LE O F

02 Letter from the President 03 Letter from the Executive Director 04 Letter from the Development Director 04 Letter from the Program Director 05 Fundraising News 08 Family News 14 Making Headlines 15 Upcoming Events 16 A Warm Welcome 17 Remembering Our Children 18 Legislative Update 22 Facebook Self Expression Artwork Contest 24 Standing Ovation 26 Combined Federal Campaign 27 Research News 32 Resources and Helpful Information 41 Donations 42 New Members 44 Classifications 45 Board of Directors

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O N T H E C O V ER Morgan McDermott (MPS III)

Jay, Deanna, Kyle, Anna Claire and Koby (ML II) Walker

Matthew Montano (MPS II)

MI S S I O N S T A TEMENT 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 F R O M T H E

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president i hope everyone’s summer has started out well. I recall summers being such a special time around the Holland house when the kids exuded excitement at the break in routine from attending school. Now that the kids are older and out of school, summers don’t seem quite as magical. My advice is to hang on to that feeling and relish it as long as possible.

in San Diego. It has become such an important meeting for linking researchers, pharmaceutical companies and patient support groups. The research presentations were outstanding with some very encouraging results in new areas of research that may very well lead to new treatments for our kids.

In May, I returned to Washington, DC, to represent MPS I families specifically and the Society in general in advocating to add MPS I to the newborn screening panels in each state. The Society’s MPS I application was a long time coming and timed to result in the maximum chance of success. It reminded me so much of when MPS I was the first enzyme replacement therapy to be brought before the FDA for approval. In a similar manner as the roll call vote by the FDA advisory panel back in 2003, it was exhilarating to hear each member of the committee vote yes to move MPS I to the next and final step of evidentiary review where a final vote will be taken whether to recommend that MPS I be added to the newborn screening process. The stakes were high because failure to meet this first step for MPS I may have spelled doom for the other MPS syndromes that are sure to follow.

In March, I had the pleasure of joining with other members of the Society’s legislative team to meet with numerous senate offices to advocate the Society’s legislative agenda. See discussions about this effort by Stephanie Bozarth and Nick Boyce in the legislative section of this issue of Courage.

While our next issue of Courage will document and illustrate how many of you honored International MPS Awareness Day, I couldn’t stop myself from jumping the gun just a little. Honoring MPS Awareness Day each year has become a big deal in the Holland house. Weeks ahead of time we

I’ve been busy this past spring with travel related to my kids’ participation in medical trials and on National MPS Society business. In February, I had the privilege of attending the WORLD meeting

all start discussing what we are going to do that year. Depending on our travel schedule, it may be something big or something very small. But just as they say when receiving gifts, it is the thought that counts. Amy and the girls use social media to make sure all of their friends are aware of it, and often their friends go out of their way to let us know they are thinking of us on that day—from notes of encouragement to the delivery of purple flowers or just wearing purple. Last year MPS Awareness Day was on a Sunday and we were quite surprised when we walked into the auditorium at church and saw a couple of hundred people who had incorporated various shades of purple into the Sunday best they wore for the day—men, women and children alike! If you didn’t do anything special this year, I hope you will consider doing so next year. Lastly, I am sorry to announce that Dave and Hope Madsen have resigned from their board service. Dave and Hope are strong and productive workers in the MPS cause and we regret losing them as board members, but hope they can rejoin the board at some point in the future. r

Steve Holland

LETTER F R O M T H E

executive director The annual world conference was held in San Diego this year, and Steve and I represented the Society at not just the scientific sessions, but the many ancillary meetings. I’ve served on the Lysosomal Disease Network’s (LDN) Advisory Committee since its inception and was very interested to hear the update of research being conducted during their investigators’ National Institutes of Health Rare Disease Clinical Network meeting. The Council of Patient Advocates also met over a lunch to discuss support of the LDN. Genzyme hosted a dinner for patient organization leaders, and BioMarin hosted a networking dinner. Kirsten Harkins, Christine Lavery (chief executives from the Canadian and U.K. MPS Societies) and I met with Shire to discuss projects in their pipeline. The world meeting also is an opportunity to bring together members of our Scientific Advisory Board and gain their perspective of our research funding program. I was one of six invited attendees from international MPS, Fabry and Gaucher organizations at the “Access to Medicine” advisory meeting in London, hosted by Shire in March. I represented our International MPS Network as we discussed humanitarian access to medicines. This meeting will be expanded and presented in June during our International MPS Network meeting, prior to the International MPS Symposium in the Netherlands. The International MPS Network meets yearly and discusses topics such as availability

Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children voted unanimously May 17, 2012, to move the MPS I nomination to evidence-based review. The goal is that MPS I will be added to the panel of diseases screened in the newborn period. Pictured: Amy Holland, Steve Holland, Maddie Holland, Laynie Holland, Barbara Wedehase, Stephanie Bozarth, Dr. Joan Keutzer.

and access to treatments, funding issues, clinical trials, research and collaboration. We are the group that determines the site for future MPS symposiums. The 2014 symposium will be in Brazil, and we will vote in June on the site for the 2016 symposium. Rare Disease Day was celebrated this year on Feb. 29. Some of our members celebrated by joining with the EveryLife Foundation in Washington, DC. Roy Zeighami wrote about the visit in our legislative section (see page 20). I was asked to join BioMarin’s celebration in Novato, CA. It was a great opportunity to thank their employees for 10 years of supporting our 5k walk/runs and to hear from the clinical team at Oakland Children’s Hospital about all the exciting work of Dr. Harmatz and his team. Read about this special day on page 10. Laurie and I had a wonderful opportunity to spend a day at Greenwood Genetics Center in

Greenwood, SC, with Drs. Tim Wood and Laura Pollard and their staff. We saw the quality control measures that follow samples through the lab and had hands-on experience with urine GAG and a-L-iduronidase testing. Dr. Pollard directed us through the labyrinth of programs they search when a mutation is identified to determine if it’s deleterious or a polymorphism. Experiencing the testing will help us better explain the process when people call us with questions. With the conferences in Boston coming very soon, we have been busy ensuring they will be the best ever. Our Scientific Advisory Board grant review committee is reviewing proposals received for the grants we’re offering, and we’ll be announcing those in July. It’s not too early to think about running for your board of directors—we’ll be sending nomination information in July. You have so much to offer our amazing organization! r

Barbara Wedehase

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LETTER F R O M T H E d e v e l o p m e n t d i r e c t o r

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in the joy of raising awareness and money for research. This program is embraced by runners nationwide and we are thrilled that families unable to attend a walk/run in person can still make a difference.

Fundraising is in full swing for 2012! We are gearing up for the family conference in Boston, and the Fundraising Committee has been preparing presentations to help fundraising hosts utilize technology to make the most of their events. The Society has launched the Text to GIVE program, and you can now donate $10 simply by texting CUREMPS to 80888! We also are beginning a pilot program called Donor Pages. This program will allow families to share their individual stories on our Web site, and will provide a link for friends and family, creating a source

of giving to help fund Society programs. Donor Pages will be unveiled at our 2012 conference. This year marks the fourth year for the Sponsor A Child For A Cure program. Last year 30 children, young adults and families participated, raising more than $25,000. We hope this year more families will be able to participate

Keep up to date by visiting the National MPS Society’s Facebook page or follow us on Twitter! For more information about Planned Giving, Sponsor A Child For A Cure or any other fundraising programs, please contact me at [email protected]. Happy summer everyone! r

Terri Klein

LETTER F R O M T H E p r o g r a m d i r e c t o r Program, which is designed to help families in a short-term financial crisis with expenses such as car repairs, utility bills, bereavement expenses and rent. Other FSC programs continue to be in demand; please contact me with any questions.

The Family Support Committee (FSC) has been very busy. They have awarded 25 Continuing Education Scholarships to individuals with MPS and their siblings. A record number of applications were submitted this year, and there was not enough money available to fund all applicants. However we would like to thank everyone for applying and please remember to apply again next year. The Society is proud to be able to help our membership with these college scholarships.

families in attending what promises to be an amazing, informational and educational conference. We hope to see you and your family in Boston. It is a fantastic time to re-energize and catch up with your extended MPS family.

In addition, the Family Conference Scholarship Program will assist

We have helped five families through our new Emergency Relief

We love to hear and share news and photos with everyone—remember to submit photos of your family for Courage. r

Laurie Turner

fundraising news Text to GIVE – CUREMPS

W ay s t o G i v e

The National MPS Society has launched a new tool for fundraising through Mobile Causes. It is easy and the awareness and funds raised will be tremendous! Text CUREMPS to 80888 on your mobile phone and you will automatically donate $10 to the National MPS Society. Text to Give is our mobile giving tool that will give the Society $10 for each text. Text to Give donations are billed directly to cell phone bills of each unique donor. This powerful fundraising tool is designed to help with fundraising campaigns, for individual convenience and for social media outreach. A corresponding iPhone application also is available. Help us spread the word and let us win in the fight against MPS and related diseases. For more information contact Terri Klein, development director, at 919.806.0101 or [email protected].

•R  enew your membership or sponsor another family • Gifts in honor of a special person •G  ifts in memory of a special person •M  atching gifts through your employer (check with your human resource office) 1. R  equest a matching gift form from your employer 2. C  omplete the employee section of the form 3. M  ail to the Society and we’ll do the rest •C  ontribute through the Combined Federal Campaign if you are employed by the federal government—CFC #10943 •D  esignate the Society as a member of your local United Way. You will need to supply them with the Society’s name, address and Federal ID number (FEIN #11-2734849) • Annual Fund donation

4th Annual Sponsor A Child For A Cure 2012 – Don’t Get Left Behind! If your family has wanted to participate in a walk/run event to raise money for research but aren’t able to attend an event, we have created that opportunity. Sponsor A Child For A Cure reaches out to families and members of the Society who want to sponsor an affected loved one or an angel and help find cures for MPS and related diseases. Walk/runs across the country will be participating in this program. Event coordinators are ready for your calls. continued >>

•M  ajor gift (usually 10 times that of your Annual Fund gift) • Planned gift 1. Bequest in your will 2. C  haritable remainder trust or charitable gift annuity 3. Charitable lead trust 4. Life insurance policy 5. G  ift of appreciated assets (stocks, mutual funds and bonds) •G  ifts may be applied to the Society’s general operating purposes or restricted to one of our designated programs. CONTACT: [email protected] or 877.MPS.1001

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Fundraising Committee:

fundraising

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Ernie Dummann Anne Gniazdowski Tom Gniazdowski Steve Holland Larry Kirch Terri Klein Austin Noll MaryEllen Pendleton, chair Kelly Rose Lisa Todd Laurie Turner Barbara Wedehase

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All you need to do is: • submit a photo of your loved one to the race you wish to participate • include the name of your child and address • get sponsorship and send donations to the National MPS Society In turn, the event will: • assign a runner to participate on behalf of your loved one • send you a courage medallion and photo with your assigned participant • publish your participation and the money raised in an upcoming issue of Courage Sponsor A Child For A Cure has raised more than $35,000 in the last three years. We are very excited to have your family be part of the team. Contact Angela Guajardo for more information at [email protected] or 919.806.0101.

Dancing to Find a Cure On March 24, 2012, my family and I hosted a family-friendly event, Dancing with Dominic in Fairfax, VA. I was diagnosed with MPS II in October 2011. I love music and dancing so within just days of my diagnosis, my mommy, Jeanette Espinola, thought of the idea of a dinner/dance event to help raise awareness.

Dominic (MPS II), Freddy, Jeanette and Jasmine Henriquez

Dancing with Dominic started off as a small event. However, the response from the community was amazing and the event size grew. A local musician who plays monthly at my day care donated a kid’s concert and the Kenah Shriner’s Klown Unit donated the clowns. My sister, Jasmine, is a Girl Scout and several Girl Scout troops in the area volunteered to help with decorations, face painting and arts/crafts. Little by little donations started coming in. Two of my most memorable donations were from a bake sale that my mommy’s co-workers held that raised $270.65, and a lemonade stand operated by a 12-year old boy that raised about $20. Thanks to all the community support, Dancing with Dominic was a huge success and included many fun activities such as raffles, clowns, face painting, arts and crafts, a kid’s concert, and of course music and dancing. I had lots of fun dancing and also had a chance to show off my DJing skills! For more event pictures and videos of me (aka DJ Monchy), please visit www.dancingwithdominic.webs.com. About 150 people attended the event, including MPS families from Virginia, Maryland and Pennsylvania. The event raised about $15,000 for the Society for MPS research, and for family support programs. Stay tuned for information about Dancing with Dominic 2013!

Dominic Henriquez (MPS II)

Dominic Henriquez (MPS II, age 2)

Jumping In Getting involved with the MPS Society’s board of directors

My board term began in January 2012 and I currently am a member of the Fundraising Committee. The reality of non-profit organizations is that resources must be obtained to achieve the mission of the organization and the Society is no different. Being a part of the Fundraising Committee, which directly facilitates that process, is very exciting and empowering for me. Our board and committee meetings provide firsthand knowledge of the front battle lines and inner workings of the Society to help achieve our mission of supporting families and individuals affected by MPS and related diseases and funding research for treatments and cures. Having this knowledge makes me a better mother and caregiver to my son, and also allows me to share that knowledge and insight with other families in the MPS community. The board also provides a special comradery amongst a group of people who really understand the day-to-day struggles we all face with MPS in our lives. One of the things we all know about MPS and related diseases is that there are a lot of things out of our control. For me, being a part of the board allows me to give back in a way that I can control and to assist in continuing our march forward and fight for a cure.

Lisa Todd (parent of Jack Todd, MPS II, age 9) 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.

•D  on’t forget to submit a brief article for Courage about your fundraising success stories and suggestions—they are terrific resources for other families planning events. •C  heck out the fundraising section on the Web site for more information or to post your event. •F  or free MPS Society brochures and donor envelopes, or to submit information for the Web site or Courage, send an e-mail to Terri Klein at [email protected]. Keep in mind—the Annual 5K Walk/Run and the Annual Fund are great ways to raise money for the National MPS Society.

co r r e c t i o n s The following generous donors were missed in our 2011 Annual Fund publication list in the spring issue of Courage. Thank you to the following donors: Stephanie and Austin Bozarth, Philanthropist Elizabeth Karas, Leader Gary and Carol Moss, Donor Austin and Cheryl Noll, Philanthropist Joel Bloom and Jody Shapiro, Patron Kim and Tom Whitecotton, Philanthropist Corrected Giving Category: Mike, Lisa, Maria, Molly, Sarah, Johnny and Gracie Day, Friend Tara and Jack Elston, Volunteer Janet Forde, Volunteer Jack and Lynn Griffin, Friend Brian and Kristine Klenke, Friend Ralph and Bonnie Rennaker, Friend Ellis and Jeanette Taylor, Friend

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When my son Jack was diagnosed in July 2011 with MPS II, I was grateful to have the opportunity to attend the annual conference in St. Louis within a few weeks. Everything was new and overwhelming and the last thing I was thinking about was joining the MPS Society’s board of directors. At the conference, I attended the annual meeting and I learned more about the inner workings of the Society. What was clear to me was that being a board member was a priceless opportunity. As a new MPS parent, I was eager to dive right in and help in any way possible. I felt that up to the point of my son’s diagnosis, all of my professional and community service experiences was God’s way of preparing me for doing something that meant more to me than anything—fighting for my son’s life. So, I decided to run for the board.

Fundraising Reminders

family news

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I don’t remember the day or the moment when Zach was diagnosed. I guess I was just too little to realize and understand the importance of that day, but I will never forget three little letters followed by one number—they seem to in some way define my life: MPS II. What is that? Well let me tell you, it’s a rare disease that is killing my little brother. Its name is Mucopolysaccharidosis II or Hunter syndrome, and I have known all too much about it since I was about 5 years old.

Brandon, Zach (MPS II) and Josh Townsley

What I do remember is this: When I was about 5 years old and in the car coming home from preschool, I asked my mom why Zach couldn’t talk like me and he was 3. I, in my 5-year-old mind, felt that he should be talking by now. My mom tried to explain what was happening with Zach, and even though I understood that he was sick, I did not understand how sick he really was. In time I have come to know and understand all too clearly what this disease means. Zach used to be able to speak, play and act pretty much like a normal kid. Now though, he is wheelchairbound, has a tracheotomy, eats through a g-tube and has to use a ventilator to breathe at night. You see, MPS II is a progressive disease. Kids who have it seem almost normal when very young, but as they get older the disease gets much worse. There are treatments

for some of its symptoms, but there is no cure. MPS II is an x-linked chromosomal disease. This means it is carried by the mother and can only be passed on to her sons. Any male children that a woman who is a carrier of Hunter syndrome gives birth to have a 50 percent chance of having the disease. Any daughters would have a 50 percent chance of being a carrier. My mother has three sons— me, Zach and our younger brother Brandon. Only Zach has MPS II. My mother’s grandmother had a son who died from the disease 50 years ago, only until Zach’s diagnosis was made through DNA, the family believed he had a different disease called Hurler’s syndrome. My parents were tested to see if they were carriers of Hurler’s syndrome before I was born, however now we know they were tested for the wrong disease. When he was 6 years old, a treatment became available for kids with MPS II called Elaprase®. It is given as an IV infusion. For five years, Zach went to Joe DiMaggio Children’s Hospital once a week for four hours to have the infusions done. Unfortunately Elaprase can only provide a partial treatment, and it cannot help with damage to the brain and central nervous system. Zach was able to walk up until he was about 9 years old, but he was never really good at it. One thing continued >>

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When he was 9, Zach underwent spinal fusion surgery to correct a bad curvature in his spine. He hasn’t been able to walk unassisted since then. He had to spend months in a cast and a back brace in order to protect the area where his spine was fused together. About the same time Zach started having what are called sympathetic nervous storms. These look like seizures, but last a longer time. Some of them lasted hours. When he has these storms, Zach would shake uncontrollably, sweat and become overheated. They are terrible to watch. When he was 10, Zach suffered a collapse of his airway. He almost died twice before doctors were able to insert tubes in his throat to get him air. Because his airway was so bad, doctors had to insert a tracheotomy tube that he will need to have for the rest of his life. Once he got that tube put in his throat, Zach refused to eat and had to get a g-tube put in his stomach so that he can be fed. When he came home from the hospital, Zach brought new

members of our family with him— nurses! Lots and lots of nurses. We have had many come and go over the past couple of years. Now Zach has two nurses who care for him, Serge and Mike. One of them is with him seven days a week, 16 hours a day! They have become an extended part of our family and I couldn’t imagine our life without them. As I have gotten older I have learned many things. I have learned medical techniques such as how to suction a tracheotomy tube, how to use an ambu-bag to breathe for someone, how to use a feed pump, and how infusions are performed. I also have learned acceptance of those who are different. By having Zach as my brother, I have learned that people who are different are special in their own way. I have learned patience, because I can see that sometimes having to take care of my brother is more vital at the moment than dealing with whatever my wants are.

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Dan Hinton (MPS II) with his mother Carolyn Keeney

Sydney Vanhook (MPS I)

Most importantly, I have learned from Zach that having a disabled brother can change your life, and it can make you a better person. r

Josh Townsley (Josh’s personal narrative about Zach was sent to the District Literary Fair competition.)

Shannon Tootill (MPS III)

Michelle Hopkins (MPS I) recently was honored at the Long Beach School District’s Most Inspiring Students Awards Dinner. Her teacher and the school’s administration nominated Michelle for this honor to represent Kettering Elementary School. Chosen students have shown persistence, drive and dedication. Many have overcome significant adversity. Michelle is very excited about this award. We are obviously very proud of her. Those of you who know Michelle know she has a great attitude toward life. Way to go, Michelle!

Scott and Lynn Hopkins

Michelle Hopkins (MPS I)

family news

he was good at was falling. Because of that we always had to keep an eye on Zach to make sure he was safe. Even though we tried to prevent it, Zach still managed to end up with a good collection of bumps and bruises.

BioMarin Celebrates Rare Disease Day Although Rare Disease Day 2012 was Feb. 29, celebrations were held throughout that week and the next. Roy Zeighami wrote about his participation in Washington, DC, with the Rare Disease Legislative Advocates in the legislative section on page 20. BioMarin Pharmaceutical celebrated Rare Disease Day on March 6, 2012, and showed its continued support of the Global Genes Project (led by Children’s Rare Disease Network), once again by supporting the “Jean Replacement Therapy” program, where employees raised funds for our key patient advocacy groups by donating their old jeans in exchange for a raffle ticket for a chance to win gift cards for new jeans. More than 100 pairs of jeans were donated and more than $500 was raised.

family news

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Alena Galan (MPS VI)

The employee turnout was significant, and they invited the BioMarin board of directors; Paul Harmatz, MD; some of the medical staff from the Children’s Hospital Oakland; and many of the MPS VI and Pompe disease patients and their families. Barbara Wedehase also was invited and thanked BioMarin for their support over the years, including 10 years of hosting a walk/run. The money raised by BioMarin employees and supporters during those 10 years accounts for almost 10 percent of all the walk/run money raised during that period, all of which is allocated to research. Of the many special guests in attendance was Alena Galan, 14, who has MPS VI. Alena impressed everyone with a speech she recited as well as two songs she sang.

“Today, we are celebrating Rare Disease Day,” said Alena. “My mother says I am a rare gem. My story is one of luck, love, hope and gratefulness. I began my life in a cold and barren place in Krasnoryorsk, Siberia, Russia, 14 years ago. At age 1 1/2, I became a ward of the orphanage there. They said I was a healthy child. “I first laid eyes on my mother, Marcia Galan, when I was 3 years old. It was love at first sight. I always knew in my heart that she would come and get me. I came to my new home in America in November 2001. It was the best day of my life. If I only knew then how much it would mean to be here now. We understand now that if I were to have stayed in that orphanage, I would not be standing before you today. So I have a reason and a purpose for being here. I believe I have a guardian angel. Life is my celebration. Life is a special occasion! “On my first day home in Briarcliff Manor in New York, my mother made an appointment with a pediatrician, Dr. Aronson who specialized in Russian adoptees. I had a stuffy nose, weakness in my legs, was not able to sit up straight, and/or lift my arms straight in the air, some bacterial infections, and a heart murmur was detected. I was very petite as well, but, I am told was quite adorable! We were given a referral to a pediatric heart specialist, Dr. Fish. My mother thought nothing of this. She thought that lots of kids have heart murmurs, and that everything else was due to malnutrition and being in an orphanage. Many children continued >>

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who are adopted are small in size, but catch up over time.

“Between 2002 and 2003 I had several operations that saved me from any further damage. I had a shunt, a hernia operation and then a repair of it, tubes in my ears, and my tonsils and adenoids removed. I had occupational and physical therapy in school while mastering the English language. “Finally, in 2005, after I missed being in the enzyme replacement trials twice (once because I was not impaired enough and once because I was not old enough), my day of celebration came in August 2005. I was the first in the Northeast to receive my special gift—Naglazyme® at Montefiore Hospital. The first year, I miraculously grew five inches.

“I have a great life. My ambition is to be a doctor and to continue to sing professionally. Life is a special occasion!”

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“What I am about to tell you is how I know I have a guardian angel: Dr. Fish saw me and recognized something. He had treated another family with a child diagnosed with MPS. NOW THAT IS RARE! Dr. Aronson called my mother and suggested she take me to see a geneticist because she thought I may have some syndrome. We made an appointment with Dr. Marion. Seven weeks after I came home, on that fateful cold day, Jan. 24, 2002, I was given a sentence of not life but a slow death. But guess what? There were trials that were soon to be beginning for enzyme replacement for my missing enzyme. We found out I had MPS VI, also known as Maroteaux Lamy, and help was on the way and there was hope. Dr. Marion, my mother always says, not only saved my life but hers.

“It is 10 years later and I am here. I am strong. I can lift my arms above my head, stand up straight, I don’t have a stuffy nose or colds very often, I can breathe perfectly, I am firm on my feet, I have no infections, I hear perfectly, see well and no more heart murmur. I even rock climb! I am here to celebrate life—my life because of five little vials called Naglazyme. I am here today to speak for all those who have been blessed by BioMarin with Naglazyme and hope with ongoing research for others who are so in need of other enzyme replacements, that they too may soon have a brighter and healthier future. I am here today as an example of translational medicine that made it possible to engineer and replicate what my body doesn’t. I am all the reason for research…I am a biogenetical success thanks to you, BioMarin. In addition, with the support of the National MPS Society, great strides have been made to help those who are surviving MPS. The Society has continued to fight to have our disease recognized and for more research to be done to find cures for all of us.

Adam Podesky (MPS I) on his first communion day.

Morgan McDermott (MPS III)

Alena concluded, “I want to thank the person who has been the most special to me in my life…my mama. She is my true guardian angel. She is the one who makes it possible for me to shine, to have hope and faith, and also how to shop! Love you mama. I am your healthy girl!” (l. to r.) Ethan Sowden (MPS III), Tyler Sowden (MPS III), Levi Ormeroid (MPS III) and Lucas Valdez (MPS III) enjoyed a play date in New Berlin, WI, during spring break.

In life God has a plan for every person he puts on earth. I believe one of the plans he had for my little cousin, Brooke Weddell, was to touch my heart. I was only 7 when little Brooke was born with Mucolipidosis and did not quite understand at the time why God would make a young child face such a rough life. As I grew older and spent lots of time with Brooke I realized what a special little girl she was. Every time I was around her she made me smile and stop and think how blessed I was. There are often days I think about this little angel and wonder, if her life was not cut so short how many other people would she have made an impact on? I would love to spread awareness about this disease and help to someday find a cure so I can save someone else’s favorite cousin.

family news

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Olivia Martin Brooke Weddell (ML II) 1/9/02–10/17/05

I recently submitted an entry for the Rare Children’s Storybook Project (www.myrarestory.com) for MarbleRoad (www.marbleroad.org) to promote awareness for Rare Disease Day 2012. Our Different Vacation is a children’s book I wrote about what is supposed to be our family’s vacation but is not what you would expect. My little brother, Elliot, has MPS I. My brother is different, but I love him just the same. To see my video further explaining my story, go to www.youtube.com/user/ilovehimjustthesame?email=share_ video_user.

Makenzie Matheson Arion (MPS II) is a very happy, energetic 6 year old in the 1st grade, who is usually on the move. He enjoys bike riding, balls, movies and playing with his dog. Arion is a very big tease and loves to travel. He loves being with his brothers, sister, nephew, nieces and grandparents. Arion is a man of many hats; he enjoys wearing all kinds. Arion was diagnosed with MPS II when he was 2 1/2 years old. He began Elaprase infusion July 2011 and is doing very well. Arion can light up any place with his smile. No matter what life has thrown at him, he keeps smiling. Arion Batton (MPS II)

Jody and Mark Batton Kelly and Jake Hubert, parents of Livia (MPS III), recently were featured on their church Web site as part of its life group series. To watch their testimony, go to http://rockfordfirst.com/saintsandsinners/watch and click on Week 2.

February used to be MPS awareness month. Recently that has been changed to May. However this past February I had a unique opportunity to increase awareness of MPS within a college setting.

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I was invited to speak at the chapel service at Houghton College in Houghton, NY. The dean of the chapel asked me to address the obsession our culture has with beauty and perfection. I preached from Psalm 139 where David writes of how God had a plan for David’s life even before he was born. For example, in Psalm 139 we find these words: Psalm 139:14—“I praise you because I am fearfully and wonderfully made; your works are wonderful, I know that full well.” 15—“My frame was not hidden from you when I was made in the secret place. When I was woven together in the depths of the earth,

Wayne Eppehimer (MPS II) spoke at Houghton College, NY.

16—“your eyes saw my unformed body. All the days ordained for me were written in your book before one of them came to be.” Being a person with MPS II, I am certainly not a candidate for being a poster boy for success in the eyes of many within our culture. But that is okay because our culture’s measuring stick is not necessarily valid. I shared with the students that since we are created in God’s image, God has a plan for our life, even as He did for David. That being true, all of us are special regardless of our abilities or so-called disabilities. I intermingled into the sermon some of my personal story of having the opportunity to travel to numerous nations around the world, and having been elected to two terms to the highest executive body of our denomination, and having served as the senior pastor of two churches during the past 32 years. In the midst of sharing these examples of “successes” I also was able to give some insight into MPS disease. There were more than 800 students in attendance that day. We ran out of the MPS flyers that were sent to me by the National MPS Society. The dean of the chapel said he would make additional copies available for any student who wanted one but didn’t get one. He thought that perhaps the pre-med students would be particularly interested in it. Several students lined up to talk with me after the service. It was an enjoyable experience.

Wayne Eppehimer (MPS II) Denise and Bob Crompton, parents of Kelley Crompton, ML III (1963–2009), met with Dr. Sara Cathey at the Charleston Greenwood Genetic Clinic in April. Dr. Cathey conducted the natural history study for the Mucolipidosis population in which Kelley participated. The Cromptons have been members of the National MPS Society for 32 years.

Koby Walker with his 1st grade citizenship award and his teacher Mrs. Berry.

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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!

making headlines Wish comes true for young NASCAR fan with rare disease An excerpt from an article featured on www.wfaa.com, Dallas/Fort Worth, April 13, 2012. Written by Marcus Moore. To read the complete article, go to www.wfaa.com/news/local/NorthTexas-child-with-rare-disease-meetsNASCAR-147402915.html.

Walking down souvenir alley at Texas Motor Speedway, 9-year-old Luke Chambers looks like he’s on top of the world. “It’s a big thing to him,” said Luke’s dad Chet Chambers. “He’s a kid who’s been through a lot; NASCAR means a lot to him.” He lives with a rare disease called Mucopolysaccharidosis I, or MPS I. It’s genetic and attacks the body and can lead to organ damage. But, you certainly wouldn’t know his daily struggle, especially on this day when Luke met a real-life race car driver.

How Committed is Big Pharma to Rare Diseases? Melissa Hogan, mother of Case (MPS II), was featured in a Forbes magazine article addressing the recent interest of large corporations in rare disease drug research, and how this will impact the families of those affected. “We want to know, especially from [large companies] that some might see as interlopers seeking to bleed the last of high profits from a new area, now that there are more common drugs going generic that entry into this area is not a fleeting thought of profits,” said Melissa. “We want to know that if the research is more difficult, that if the science takes longer, if the competition gets heavier, that you are committed. We want to see understanding that commitment is not just offering us a product, it is helping to make our children’s lives better, a product being just part of that effort. Because it’s not commitment to us, it is commitment to our children.” To read the complete story, go to www.forbes.com/sites/johnlamattina/2012/05/02/how-committed-is-big-pharmato-rare-diseases.

Dr. Klane White, orthopedic surgeon and father of Susannah (MPS I, 1999–2008), is on a mission to understand— and spread awareness—about the debilitating diseases that cause painful spine and hip deformities in children who suffer from them. His research is translating experiences from clinical outcomes into treatments that improve kids’ lives. To read Dr. White’s article, “Translating Research About Spine and Hip Deformities to Improve the Lives of the Kids Who Live with Them” that was recently published in Seattle Children’s Research Institute’s Interaction research newsletter, go to www.seattlechildrens.org/research/interaction and click on the March 2012 PDF.

upcoming events 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.

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.

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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 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 the Snow family from Salt Lake City, UT. My name is Amber and I am a single mother of an amazing little boy named Matthew who is 3 years old. I work full time for a non-profit organization that helps the elderly, disabled and low-income families called Community Action Program. Matthew was born Sept. 30, 2008. He was a healthy 9 lb. 2 oz., 21 inch little miracle. As someone who has been told since a young age that she would never be able to have children, he was just that, my miracle. The first two years of Matthew’s life he was a happy, healthy little boy, with the exception of many ear infections. As time went by I started to get worried about his development, especially the fact that he was showing no signs of talking and would not respond when I talked to him.

Amber Snow and Matthew Montano (MPS II)

My mother suggested I have his hearing tested, so I took him to an ENT and, as suspected, he could not pass the hearing test. The doctor figured it was due to the many ear infections he had had. He suggested we put tubes in. So we put in the tubes and retested and he passed. I was still worried about him being behind in development so I started researching my options. I learned that I could start him on an individual education plan (IEP) in a special education class. At the time he was about two months away from turning 3. He had to be 3 to start the testing and get into the class through the school district. The day he turned 3 I called the district and started the ball rolling. After some testing and a few meetings he started a class. A few weeks after he started his IEP I received a call from Matthew’s teacher. She asked if I had ever considered having Matthew tested for any genetic issues. Of course it had never occurred to me, why would it? She said she saw some different physical characteristics in him and thought it would be a good idea. To this day I cannot thank her enough. I did not do it right away, whether it was from fear or denial I am not sure. But she was persistent. She kept asking me if I had thought more about it. So I made the appointment.

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Our first appointment was with child development specialists. After testing all of his skills and examining him they left us in a room while they went out and talked. When they came back they sat me down and informed me that Matthew had the verbal skills of an 18 month old and the motor skills of a 2 year old. They also told me they thought he had a form of a genetic disease called MPS, but I would have to have him tested for sure. They informed me that they would be in contact with me about the appointment but it would probably take a few months before I got in to see a genetics doctor. As we were leaving there happened to be one of the genetics doctors walking by. That doctor got down on Matthew’s level and took one look at him and turned to me and asked me if I had time to get some X-rays done. So off to the hospital we went. We were contacted the next day with an appointment to see a geneticist in one week.

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After an examination and many questions later the geneticist informed me that he was sure Matthew had MPS. The only question was which type. On Feb. 9, 2012, Matthew was diagnosed with MPS II. That day my life changed forever. Matthew had his first enzyme replacement therapy on Feb. 12, 2012. Since then our life has been a whirlwind of doctors, tests and procedures. I am blessed to have an amazing family and friends who are a great support system. I am also grateful for the people I have met through MPS, especially those who answer my never-ending questions!

Matthew Montano (MPS II)

It has only been three months since Matthew’s diagnosis. While I am still trying to understand and accept all of this and what is to come, I also want to make sure that Matthew has as many experiences, wonderful memories and all the love I can possibly give him in his lifetime. In the end I have to believe that Matthew was given to me for a reason, as I to him. He is my miracle.

REMEM B ERING

our children Joshua Downing 33, MPS III, 5/16/12

Tony Owen

Rachel Swink

24, MPS III, 3/22/11

Chase Veliz

34, MPS II, 5/22/12

20, MPS II, 3/31/12

Nicholas Sprowles

Megan Weisenbach

18, MPS III, 4/16/12

12, MPS III, 5/25/12

summer 2012 #59

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legislative update r Thanks to the support and dedication from longtime friend and Society supporter Sen. Lindsey Graham (R-SC) and his great staff, Senate Resolution 450 passed, designating May 15, 2012, as National MPS Awareness Day! We thank Society members who wrote letters and sent e-mails to generate this success. r

Legislative Committee: Stephanie Bozarth, chair Amy Barkley Jeff Bardsley Dawn Checrallah Ernie Dummann Steve Holland Terri Klein MaryEllen Pendleton Kelly Rose Laurie Turner Kim Whitecotton Roy Zeighami Barbara Wedehase

The past several months have been a whirlwind of advocacy opportunities for the National MPS Society and all our members. I hope you have had a chance to jump in and make that leap into becoming an advocate for yourself, your loved one, and/or for the Society in general. I also hope you have caught the advocacy bug! Warning: It can be contagious. Once you start communicating with your representatives and building relationships, you soon realize that YOU can make a difference, they will listen, and it can be incredibly empowering. As we move our advocacy efforts forward, it continues to be critically important to build and cultivate relationships with our decision makers in both the House and Senate. We must grow our list of Senate and House champions to move our mission forward of funding research, spreading awareness, and creating an environment where regulations aren’t deterring research interest. Your House representative or senator could be one of our greatest champions who makes all the difference. From a legislator’s point of view, the most influential advocates are their very own constituents (voters). I can advocate on your behalf but what they really want is to hear from someone living in their state or district. It all starts with telling your story and building that relationship so that you can bring more attention to the needs of our children and adults living and suffering with MPS and related diseases. I hope I can guide you forward into becoming an advocate and provide you with the information that is relevant to our Society. Two ways to get a running start is to join the Society’s Policy with Partners to be included in all e-mails and action alerts, and secondly to take our NEW online advocacy Webinar (available in the Members Only section of our Web site) to learn how to influence your lawmakers by visiting them in your home state. We will guide you and provide all the information you need to be a powerful voice! r Sincerely,

Stephanie Bozarth

Chair, Committee of Federal Legislation

Policy with Partners: Five Minutes of Your Time to Take Action!

Current Legislative Priorities and Action Items: • 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. This is where we start our search for advocacy champions who can greatly influence legislation important to us. You will be able to determine if your congressman is in the caucus at www.rarediseaseadvocates.org. • H.R. 4132, Faster Access to Specialized Treatments Act (FAST Act) The FAST Act will modernize and expand the U.S. Food and Drug Administration’s accelerated approval pathway to encompass a broader range of diseases and leverage 21st century drug development tools and strategies. This reform will speed the approval

• H.R. 3059, Support the Creating Hope Act S.606 The Creating Hope Act 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. Take action at www.rarediseaseadvocates.org.

Current News: MPS Society Advocates on the Hill March 12–14: MPS Society members Steve Holland (president/MPS I parent), Stephanie Bozarth (vice president/ MPS IV parent), Jeff Bardsley (board member/MPS II affected), Dawn Checrallah (board member/ MPS I parent), Nick Boyce (MPS I affected) and Amy Bardsley (MPS II parent) were at the Capitol advocating for the Society’s legislative priorities on behalf of all members. In three days, these Society members had 21 appointments representing 18 states. They were well received and found the legislative staff very attentive and supportive of the Society’s priorities. The following requests were made of the senators: • insertion of the MPS-related language into the 2013 Appropriations Bill;

• s igning on as a co-sponsor of the National MPS Awareness Day Resolution; and • support for TREAT and FAST Lifespan Respite Coalition Update Thank you to everyone who helped secure Senate signors to the FY 2013 Senate appropriations request for Lifespan Respite funding. Seven senators signed on in a three-day turnaround! The final letter can be found on the National Respite Coalition Web site. National Center for Advancing Translational Sciences (NCATS) Is Focus of Congressional Hearing “Despite phenomenal progress in basic science, we still lack effective treatments for far too many diseases, and this translational pipeline to get there is long, 14 years on the average, and it’s leaky,” said National Institutes of Health (NIH) Director Dr. Francis Collins during congressional testimony on March 20. Both Collins and NCATS Acting Director Dr. Thomas Insel testified on the president’s FY 2013 budget request before the U.S. House of Representatives Appropriations Subcommittee on Labor, Health and Human Services, Education, and Related Agencies, chaired by Rep. Denny Rehberg (R-MT). The hearing focused on both the NIH and NCATS budgets, and featured panel discussions about the many opportunities that exist for NCATS to work in synergy with private industry to improve the translation process. Collins also restated NIH’s commitment to fund basic biomedical research as its highest priority. Insel showcased continued >>

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The Legislative Committee reviews and tracks legislation important to our community which we then forward to Policy with Partners (PwP). When you sign up for PwP, you will be included in all action alerts and e-mails. On occasion, depending on importance, some legislative action alerts will go to all members. PwP is a program set up to pinpoint a core of Society members who we can count on to advocate when called upon. If you want to be a PwP member, please sign up on our Web site or call the main office.

of much-needed therapies and cures to patients who are facing serious and life-threatening conditions, including Alzheimer’s disease, autoimmune diseases, multiple sclerosis, Parkinson’s disease and hundreds of rare diseases that remain untreated. Take action at www.rarediseaseadvocates.org.

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legislative update

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NIH’s Clinical and Translational Science Awards program, saying “80 percent of [the NCATS] budget is the CTSA program” and that in the next five years, the goal is to increase “engagement of communities, not only as a source of patient volunteers, or research

volunteers, but increasingly to get them in at the front end to help define what the research problems need to be, and to bring them in as a full partner.” Insel emphasized, too, that fixing the pipeline is “what NCATS is all about…figuring new ways to develop compounds and new ways to develop diagnostics.”

Visit the NCATS new Web site at www.ncats.nih.gov to learn about the center’s latest news and events, innovative research initiatives and programs, areas of focus, and current opportunities for collaboration.

Advocacy Personal Stories Rare Disease Day 2012 by

Did You Know? Michael J. Astrue, commissioner of Social Security, added 52 new Compassionate Allowance conditions to the list, one of which is I-Cell (ML II). MPS I, MPS II and MPS III had previously been added to the list of Compassionate Allowance conditions. The Compassionate Allowance program allows patients with certain diseases to receive disability decisions within days rather than months or years. The new conditions will become effective August 2012.

Roy Zeighami

On Feb. 29, International Rare Disease Day, I participated in the first lobby day in Washington, DC, coordinated by the Rare Disease Legislative Advocates (RDLA). Parents of children with MPS diseases and other rare diseases were represented. The EveryLife foundation offered $500 travel grants to help defray the cost of travel. Short meetings were scheduled by the EveryLife foundation throughout the day with the Congressional senior staff and sometimes with a member of Congress themselves. The families spent a few short minutes in the meetings sharing their story and then made their “ask,” support for a specific bill. Beginner advocates were paired with seasoned advocates and were informed about bills that were in consideration prior to their meetings. It was amazing to watch the transformation that happened as newcomers gained confidence and an understanding of the importance of what they are accomplishing. Only we, as patient advocates, can share OUR story and describe what WE want—from NIH funding for research, to statues that affect how drugs are approved and clinical trials are run, to direct support and services for families. Without your voice, your elected representative can only guess what is important to you. While there is much, perhaps justified, cynicism around politics, one thing holds true—politicians want to be re-elected. By showing that we are motivated to meet with our representatives, we send a strong message: We are not going away and will be heard. Over this next year, I encourage you to build a relationship with your representative. Find out who your representative is and visit their district office near your home. The National MPS Society has information available at www.mpssociety.org/news/legislative to help you set up appointments and craft your talking points. Remember, you are extremely powerful. Your story is compelling and your child’s story deserves to be told. Hopefully, there will be many more RDLA lobby days. Even if you can’t make it to Washington, you can have an impact. Visit your representative’s district office, sign up on their Web page for alerts, and go to their town hall meetings. There is so much policy work to be done and it all starts with your relationship with your representatives. continued >>

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My Visit to Capitol Hill by

Nick Boyce (MPS I)

In March of 2012, I had the opportunity to visit Capitol Hill. Part of my visit consisted of meeting with the offices of the U.S. Senate. In the past, my mom has always been an advocate for me, so it was a very rewarding experience as an adult to speak on a political level on my own behalf and the behalf of MPS children who are unable to speak for themselves.

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It was nice to be able to share my personal experiences with those on the Hill. Most of whom I met with were not aware of what MPS was and how it affects everyday life. During my visit, I also had the opportunity to meet in person my senators from Rhode Island, Sen. Sheldon Whitehouse and Sen. Jack Reed. I attribute this opportunity to my mom who had previously attended a town hall meeting in my hometown. Meeting them in Washington, essentially serving as a follow-up meeting after having already heard my story and the challenges I’m faced with every day, allowed them to put a face with my name and MPS. If given the opportunity to participate in another visit, I would definitely take the trip. Every voice heard only moves us closer to making a better future for all children and adults living with MPS.

The Lewis family, whose daughter, Madison, has MPS III, was invited to visit with Sen. Kay Hagan (D-NC) at UNC Health on May 1 in support of her efforts of the TREAT Act, which accelerates the review and approval process for medicines that treat an unmet medical need or significantly advance the standard of care for people suffering from deadly diseases. “It was a wonderful experience for our family and one that will hopefully have a positive impact,” said the Lewises. “Our objective was to impress that while the rare diseases our MPS families deal with are far less common than some of the more prevalent overall societal diseases, they are no less devastating to our families and children who have to endure them. Streamlining the FDA approval process to allow faster access to beneficial treatments will provide additional hope and support to all our loved ones.” (l. to r.) Wayne Lewis, Dr. Art Aylsworth, Sen. Kay Hagan, Dr. Joseph Muenzer, Morgan Lewis, Paige Lewis and Madison Lewis (MPS III)

Nick Boyce (MPS I)

F ac e boo k S e l f E x p r e ss i o n

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artwork contest International MPS Awareness Day is held each year on May 15. This day is an opportunity to: • acknowledge all the children and adults who suffer from MPS and related diseases; • remember the children we have lost; • be grateful for the doctors and scientists who are dedicated to finding a cure for MPS and related diseases; and • appreciate each other and the strength and support we both give and receive. Thanks to everyone who participated in the Facebook Self Expression Artwork Contest. All of the entries submitted were wonderful!

The Winners Were: Dressed to Impress 1st place: Tucker iPad Lanier 11, MPS 2 and 2013 New Year’s Card Tucker Lanier, 11, MPS II “Dressed to Impress”

2nd place: $100 Visa gift card

Allison Restemayer, 11, MPS I

MPeaceS Allison Restemayer 11, MPS 1 “MPeaceS”

3rd place: $50 Visa gift card The Road Ahead Jenna Watson, 13, MPS I Jenna Watson 13, MPS 1

“The Road Ahead”

Andrew Cochenour 14, MPS 2 New Year Wish Jill Underwood 23, MPS I

Additional Entries:

Cherries Shannon Tootill 18, MPS III

Andrew Cochenour, 14, MPS II “Happy Feet”

Jill Underwood, 23, MPS I “New Year Wish”

Shannon Tootill, 18, MPS III “Cherries”

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Hope in the form of a rainbow Lucas Montgomery 14, MPS 3

Lucas Montgomery, 14, MPS III “Hope in the Form of a Rainbow”

Paige Halk, 14, MPS I “Courage Is the Heart of Every MPS Child”

"Courage is the Heart of every MPS child" Paige Halk 14, MPS 1

Spring Jennifer Underwood 25, MPS 1

Jennifer Underwood, 25, MPS I “Spring”

MPS Day Sean Rutherford 3, MPS 1

Sean Rutherford, 3, MPS I “MPS Day”

Hands of Courage Danny Miller 15, MPS 2

The Kite Sasha Segal 13, MPS 3A

Sasha Segal, 13, MPS III “The Kite”

Danny Miller, 15, MPS II “Hands of Courage” MPS Julie Lintt 41, MPS 4A

Julie Lintt, 41, MPS IV “MPS”

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standing ovation 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. We give a standing ovation to: Luke Chambers, MPS I I am 9 years old and I live on a farm in Scurry, TX. The best part about living on a farm is getting to help out, picking items, riding my Ford Raptor truck and getting it stuck. I love to play with my cars and I love cats. I like to wear any shirt that has cars, trucks or Angry Birds on it. My favorite colors are blue, orange and yellow. I like to watch Tom & Jerry and Lego TV shows. My favorite movie is Cars 2. I love to eat super tacos, flat tacos and pizza. I love NASCAR racing, Monster Truck Jam and any other type of racing—I love the crashes and pit crews. When I grow up I want to be on a pit crew as the tire guy. Some of the most exciting things I have been able to do were to spend the night in a condo at Texas Motor Speedway where I met NASCAR driver Austin Dillon, and go to the Monster Jam World Finals in Las Vegas. The best part of having MPS is seeing the flashing billboards about MPS in our town on MPS Awareness Day. The worst part of having MPS is wearing purple. If you asked me who saved us, I will tell you Jesus.

Davis Barkley, MPS II I am 16 years old and was diagnosed with MPS II at age 8. I live in Louisville, KY, and I am a sophomore in high school. Living with MPS is obviously not easy; all of the doctors’ appointments, surgeries, and hospital visits can get very tiring and depressing. But, I feel like the most important thing in dealing with those challenges is having a positive attitude. Once that is accomplished, life really does get better. It is a lot easier to handle disappointing situations and deal with tough issues. Staying positive is the main reason I am able to function at a fairly normal level. It gives me a good outlook on life and helps me cope with all of my unfortunate issues. I try to rule out my condition when trying to accomplish anything, I really don’t like that being deciding factor in doing things I want to do. I really enjoy running, so last fall I decided I was going to run a half marathon. I trained hard and accomplished my goal—it was an excellent feeling. I ran my second half marathon in April, and convinced my mother to run with me. I also enjoy riding bikes, watching movies, traveling, playing basketball and swimming. I try to live life by normal standards as much as possible. It isn’t easy living with MPS, but with a positive attitude and a good mindset, it certainly makes it easier.

Caleb Mulder, MPS III Caleb is 6 years old and is a funny and active little boy. He loves to play games, especially Guess Who?, Monopoly Junior and Uno. He plays soccer and T-ball and loves them both. His favorite classes in school are gym and music. He loves to sing and is constantly dancing around serenading the family with his own renditions of Katy Perry’s “Firework” and Journey’s “Don’t Stop Believin,’” His favorite TV show currently is Ninjago and he continued >>

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loves to watch Spy Kids movies. He has a sharp sense of humor and is always cracking us up.

Willow Hoff, MPS IV I am 4 years old and just graduated from preschool. I was given an award for being the most creative. I love to paint, do art and make up my own songs. I have been in dance for two years and like to perform for people. My favorite movies are The Muppet’s, Seven Brides for Seven Brothers and Molly: An American Girl on the Home Front. I also like to watch I Love Lucy, she makes me laugh. My favorite foods are spaghetti and brownies. I like spending time with my mom and dad and little sister—we do fun things like go to the zoo and circus. I like to help in the flower and veggie gardens. My favorite doll is my American Bitty baby named Angel. She goes with me to all my doctor appointments and even had surgery with me. I like having tea parties with my friends and playing with my cousins. I don’t like blueberries and get scared during thunderstorms. I go swimming a lot in the summer.

Autumn Mortensen, MPS VI I am 18 years old and plan to attend college next fall to discover what path to take in life. I’m a known chocoholic and a Dr. Pepper addict. I love my cats, especially when they are excited and running about rampantly. I’m an avid reader of fantasy novels and movies. One of my favorite series was the Harry Potter books by J.K. Rowling. I’ve always loved reading, but Rowling’s books really opened my eyes to the world’s unending possibilities. Every new book is a new friend. Movie-wise I have a taste for a little of everything. Chick flicks, drama, fantasy, you name it. Except for real horror films, no thanks! Lately I’ve been watching Glee, a show about teens dealing with normal high school drama. I really like how it handles problems of the real world, especially being a teen in a wheelchair. And their renditions of songs like “Pure Imagination” and “Teenage Dream” are so beautiful.

Koby Walker, ML Koby is 6 years old and lives in Magee, MS. He was diagnosed at age 1 with ML II/I-Cell. At age 15 months, a bone marrow transplant was performed in the hope of saving his life. His sister was his donor and the transplant was a success. The transplant stopped the accumulation of cells in his organs, but did not stop the damage the disease causes to his bones and joints. He receives physical therapy weekly to help with the stiffness of joints and muscles. Although life isn’t always easy for Koby, he lives each day to the fullest. Everyone who meets Koby immediately falls in love with him, especially his love for life and his contagious smile. Even though his physical restrictions don’t allow him to play sports, he absolutely loves football and baseball. He enjoys watching games and cheering on his favorite teams. He just completed the 1st grade. Koby attends Goodwater Baptist church where he enjoys going to Sunday school and taking up the offering during worship service. Koby also enjoys showing pigs in his local 4-H. He recently won overall showmanship with his pig, Hershel. Koby has a twin brother, Kyle, and a 10-year-old sister, Anna Claire. He loves his brother and sister and enjoys playing with them. To read more about Koby and his life you can follow him at www.caringbridge.org/kobywalker.

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Caleb was diagnosed with MPS III last summer after we learned that his older brother, Jarod, has it. He is doing remarkably well and is, amazingly, finishing a great year of kindergarten and moving on to first grade. He’s reading at a C level, has a huge list of sight words, does well sounding new words out and is good at math. He loves to play make believe with his friends and it usually involves Star Wars characters and light sabers.

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G i v i n g t h r o u g h t h e C o m b i n e d F e d e r a l C a m pa i g n The National MPS Society has been approved once again for the 2012 Combined Federal Campaign (CFC)! If you work within a federal, state or local government agency, you can designate the National MPS Society as the recipient of your payroll giving program or one-time gift. The Society is a participant in the Combined Federal Campaign, listed as #10943 in the CFC brochure.

My husband is in the Air Force. They were asked if they would like to make a donation in an amount per paycheck toward a charity. They found the National MPS Society in the CFC list and his entire ship put the Society as their designated charity! A $700 donation was received from an airman who lives in the dorms; I was just amazed that he would donate that for our family. There also was a $1,200 donation! I would really like to thank every one of these generous Air Force members who gave to the CFC in honor of our daughter Amelia (MPS III). I think it says a lot about the men and women who serve our country with my husband and it made our family feel wonderful!

Willow Rice and daughter Amelia (MPS III)

research news Observational Prospective Natural History Study of Patients with MPS III B Shire HGT announced in January 2012 that they will sponsor a natural history study for individuals with MPS III B. The objective of this study is to evaluate the natural, unaltered disease progression of MPS III B; the study has been designed similarly to an interventional clinical trial. This is a longitudinal, prospective, observational, natural history study to identify endpoints that may be used for future enzyme replacement therapy trials via standardized clinical biochemical, neurocognitive, developmental, behavioral and imagining measures. Shire expects the results of this study to provide key disease insights, similar to what would be measured in an untreated control group in an interventional clinical trial. The study is being conducted at the University of Minnesota. For additional information, contact Brenda Diethelm-Okita at 612.625.1594 or [email protected]. Complete information about this study is available at www.clinicaltrials.gov/ct2/show/NCT01509768?term=MPS+IIIB&rank=1.

Clinical Trials MPS I MPS I Intrathecal Enzyme Replacement Clinical Trial The Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center in Torrance, CA, and the University of Minnesota are collaborating on a Study of Intrathecal Enzyme Replacement Therapy (ERT) for cognitive decline in patients with MPS I. The purpose of this research study is to find out whether giving ERT with Aldurazyme® as an injection directly into the cerebral spinal fluid (the fluid around the spinal cord and the brain) can stabilize (keep from getting worse) or improve cognitive decline in patients who have MPS I. The term “cognitive decline” refers to a change for the worse in the ability to think and learn. Difficulty with thinking, memory, language, concentration and decision making are some signs of cognitive decline. To be eligible for this study, you or your child must be willing and able to comply with the study procedures and meet certain criteria. You or your child must: • be 6 years of age or older • be diagnosed with MPS I • s how evidence of cognitive decline on a screening evaluation continued >>

27 MPS IV A Clinical Assessment Program (MorCAP) The MorCAP has been designed to provide a better clinical understanding of the natural history of MPS IV A (Morquio A) syndrome by measuring various aspects of the disorder, including endurance and respiratory function in affected patients. These insights may help BioMarin Pharmaceutical Inc. design future clinical studies. Participation in the MorCAP study will require one or more visits yearly to a clinic or hospital for up to 10 years. Experimental drug will not be administered during these visits. MorCAP is a multinational study and includes sites located in the United States, United Kingdom, South America, Canada, Europe and Asia. For more information, call toll-free 1.866.961.8212.

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Study participants will have: • up to 10 treatments given one to three months apart over two years (treatment group) or four treatments given three months apart beginning at month 12 (control group); • physical examinations (general and neurological); • neuropsychological testing for cognitive decline and an MRI of the brain; and • reimbursement/payment of travel expenses. Additional details about this clinical trial can be found at www.clinicaltrials.gov; search under “mucopolysaccharidosis.” If you are interested in this study or would like more information, contact: Dr. Agnes Chen 310.222.4160 / 310.782.2999 (fax) / [email protected] or Dr. Patricia Dickson 310.781.1399 / 310.782.2999 (fax) / [email protected]

MPS I Intrathecal ERT for Children Being Considered for Transplantation The University of Minnesota recently has obtained FDA approval for the delivery of laronidase into the spinal fluid of children with Hurler syndrome being considered for marrow/cord blood transplantation. The goal of these studies is to decrease the neuropsychologic decline that has been observed in children with MPS I from the time the patients are initially evaluated to the time they are one year from transplantation. The hypothesis is that there is a significant delay in achieving sufficient enzyme levels in the brain following transplantation, and that this may be overcome by giving enzyme into the spinal fluid until this occurs. Patients with MPS I who are between 8 and 36 months of age who have not previously received enzyme therapy and are being considered for transplantation at the University of Minnesota are eligible. Patients receiving laronidase in the spinal fluid also will be on intravenous laronidase prior to transplant. The study will involve four doses of laronidase given during a lumbar puncture (spinal tap) approximately three months before transplantation, at the time of admission to the hospital for the transplant, three months after the transplant and six months after the date of the transplant. The principal investigator of the study is Dr. Paul Orchard, who can be reached at 612.626.2961 or

by e-mail at [email protected]. Alternatively, Teresa Kivisto, nurse coordinator with this study, can be reached at 612.273.2924 or by e-mail at [email protected].

MPS II MPS II Intrathecal Enzyme Replacement Clinical Trial Shire Human Genetic Therapies is sponsoring a clinical trial at the University of North Carolina at Chapel Hill to learn if direct administration of recombinant enzyme into the fluid around the brain and spinal cord is safe and a possible treatment for children with MPS II with developmental delays. The principal investigator for the clinical trial “A phase I/II safety and ascending dose ranging study of idursulfase administration via an intrathecal drug delivery device in pediatric patients with MPS II who demonstrate evidence of central nervous system involvement and who are receiving treatment with Elapraise” is Dr. Joseph Muenzer. Currently there is no approved therapy for treating the brain and spinal cord in patients with the severe form of MPS II. The goal of this study is to give a new preparation of iduronate-2-sulfatase (idursulfase-IT) directly into the fluid surrounding the brain and spinal cord (intrathecal administration). The new form of iduronate-2-sulfatase has not been used before in patients with MPS II and is considered investigational. It has not been approved by the FDA or any other regulatory agency. This phase I/II clinical trial is planning to enroll 16 patients with MPS II between the ages of 3 to 8 years with evidence of early neurocognitive decline using an open-label, three-dose trial design. This clinical trial will initially have both a treatment group (12 study patients) and a control group (four study patients) with the control group eligible to receive intrathecal enzyme after a six-month observational period. Monthly intrathecal administration of idursulfase-IT will be given using a Port-A-Cath® II Low Profile™ intrathecal implantable access system manufactured by Smiths Medical MD, Inc. (St. Paul, MN) that requires surgical implantation. To be eligible for the investigational intrathecal enzyme replacement clinical trial, study patients need to have some developmental delay, but can not be severely impaired, have received and tolerated a minimum of six months of weekly intravenous Elapraise and have adequate hearing (with or without hearing aids) to complete developmental assessments. Patients with continued >>

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MPS II are not eligible if they have a shunt for the treatment of hydrocephalus, have had a cord blood or bone marrow transplant or have other medical conditions that may place the individual at an increased risk during the investigational clinical trial.

MPS III Phase I/II Safety, Tolerability, Ascending Dose and Dose Frequency Study of Recombinant Human Heparan N-Sulfatase (rhHNS) Intrathecal Administration Via an Intrathecal Drug Delivery Device in Patients MPS III A Shire Human Genetic Therapies (Shire HGT) is developing a sulfamidase ERT rhHNS for patients with MPS III A. rhHNS is being administered into the cerebrospinal fluid via a surgically implanted intrathecal drug delivery device (IDDD), because when administered intravenously it does not cross the blood brain barrier. This study is a multi-center, multiple-dose, doseescalation study designed to evaluate the safety, tolerability and clinical activity of up to three dose levels (two doses [10 and 45mg] monthly and one dose [45mg] every other week for six months) of rhHNS administered via n IDDD in patients with MPS III A ages greater than or equal to 3 years of age. The study began June 2010 and is expected to be completed March 2012. The duration of the study for each patient is nine months.

Intracerebral Gene Therapy for MPS III A A one-year, phase I/II gene therapy clinical trial for MPS III A is being conducted at Hôpital Bicêtre – Assistance Publique des Hôpitaux de Paris. This is an open-label, single-arm, monocentric, phase I/II clinical study evaluating the tolerance and the safety of intracerebral administration of adeno-associated viral vector serotype 10 carrying the human SGSH and SUMF1 cDNAs for the treatment of MPS III A. The treatment plan consists of a direct injection of the investigational medicinal product SAF-301 to both sides of the brain through six image-guided tracks, with two deposits per track, in a single neurosurgical session. The primary objective is to assess the tolerance and the safety associated to the proposed treatment through a one-year follow up. The secondary objective is to collect data to define exploratory tests that could become evaluation criteria for further clinical phase III efficacy studies. Four patients will be included in the clinical trial and will be followed during one year. The primary investigator is Dr. Marc Tardieu, Hôpital Bicêtre – Assistance Publique des Hôpitaux de Paris Recruiting Le Kremlin Bicêtre, France, 94275, +33 1 45 21 32 23, [email protected]. Additional information about the study can be found at www.clinicaltrials.gov/ct2/show/NCT01474343?term= MPS+IIIA&rank=4.

MPS IV

Patients who have completed all study requirements in this study will be invited to participate in an open-label extension study that will be designed to evaluate long-term safety and clinical outcomes of intrathecal administration of rhHNS.

BioMarin Pharmaceutical Inc. announced Feb. 1, 2011, that it initiated a pivotal phase III trial for N-acetylgalactosamine 6-sulfatase (GALNS or BMN 110), intended for the treatment of MPS IV A (Morquio A syndrome). Enrollment in this study is now complete.

The phase I/II clinical study is being conducted at two sites: Emma Children’s Hospital, Academic Medical Center in The Netherlands by Dr. Frits Wijberg; and the St. Mary’s Hospital in Manchester, UK, under the direction of Drs. Simon Jones and Ed Wraith. The letter to the Society from Shire about the study can be accessed on our Web site under the Clinical Trials section.

The phase III trial is a randomized, double-blind, placebo-controlled study to evaluate the efficacy and safety of GALNS in patients with MPS IV A. The study will explore doses of two mg/kg/week and two mg/kg/ every other week for a treatment period of 24 weeks. The primary endpoint is the six-minute walk test; secondary endpoints are the three-minute stair climb test and urine keratan sulfate concentration.

Additional information about the clinical trial can be obtained at http://clinicaltrials.gov/ct2/show/ NCT01155778?term=MPS+III+intrathecal&rank=1

Highlights from the phase I/II study: •E  ndurance improvements with GALNS were consistent with and, in some cases, better than those observed in pivotal studies of approved ERTs. continued >>

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For more information about the clinical trial, contact Dr. Joseph Muenzer at 919.966.1447, or the study coordinator, Heather Preiss, RN, at 919.843.5731.

or by contacting Tiffany Crump 484.595.8257, [email protected] or Daryll Heron +44 1256 894572, [email protected].

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• Clinically meaningful improvements in two measures of endurance (six-minute walk distance and threeminute stair climb) were achieved at both 24 weeks and 36 weeks as compared to baseline. • Clinically meaningful improvements in two measures of pulmonary function (forced vital capacity and maximum voluntary ventilation) were achieved at 36 weeks as compared to baseline. • Keratan sulfate levels decreased shortly after the initiation of treatment and fell further as the study progressed. • The frequency and severity of infusion reactions were comparable to those observed with Naglazyme and Aldurazyme. Additional information can be found at www.bmrn.com and http://clinicaltrials.gov/ct2/showNCT00787995?te rm=MPS+IV&rank=1.

MPS VII On Jan. 5, 2012, Ultragenyx Pharmaceutical, Inc., a biotechnology company focused on developing treatments for rare and ultra-rare genetic disorders, announced it has in-licensed an ERT program from St. Louis University to treat MPS VII. The in-licensed program is a treatment for an ultra-rare genetic, metabolic disorder that results from the deficiency of the beta-glucuronidase (GUS) enzyme. Also known as Sly syndrome, the disorder was first identified in 1973 by William S. Sly, MD, a world-renowned researcher in inherited diseases, who is currently professor and chairman emeritus, Department of Biochemistry and Molecular Biology, at St. Louis University School of Medicine. Dr. Sly will collaborate with Ultragenyx on the MPS VII development program.

“We are pleased to have the opportunity to develop this treatment for MPS VII which has been in the research stage for a long time and has yet to be made available to patients,” said Emil D. Kakkis, MD, PhD, chief executive officer of Ultragenyx. “We look forward to working in collaboration with Dr. Sly and the MPS community on this program.” Dr. Sly noted, “After so many years of research by my laboratory and my research colleagues, I am pleased to finally have the chance to see if MPS VII patients can be successfully treated with enzyme replacement therapy. I have confidence in Ultragenyx’s ability to advance the MPS VII program through the development process and fulfill our shared goal of bringing this potentially life-changing therapy to patients. We look forward to working closely with the Ultragenyx team on this program.” On Feb. 28, 2012, Ultragenyx announced that the FDA office of Orphan Products Development granted orphan drug designation for UX003 for the treatment of MPS VII. On March 28, 2012, Ultragenyx was granted orphan drug designation for MPS VII by the European Medicines Agency.

ML II/III There currently are no programs in place for developing treatment options for ML II/III.

Treatment Therapies MPS I

Additional information can be obtained at www.aldurazyme.com or by contacting Genzyme at 800.745.4447.

MPS II Elaprase® is a long-term ERT for patients with a confirmed diagnosis of MPS II which has been approved for use in the United States, Canada and many countries in Europe. Elaprase was developed and is produced by Shire Human Genetic Therapies (formerly TKT), and is given as weekly infusions to replace the missing enzyme that Hunter syndrome patients fail to produce in sufficient quantities. Additional information can be obtained at www.shire.com or by contacting OnePathSM toll-free at 866.888.0660. OnePath provides assistance with insurance, product access, treatment centers and education about Elaprase and MPS II.

MPS VI Naglazyme® is the ERT for individuals with a confirmed diagnosis of MPS VI and has been approved for use in the United States and in many European countries. Developed and produced by BioMarin Pharmaceutical, Inc., Naglazyme has been shown to improve walking and stair-climbing capacity. For more information, contact BioMarin Patient and Physician Support at 866.906.6100 or [email protected].

Team Sanfilippo is working with the Coordination of Rare Diseases at Sanford (CoRDS) organization to build a patient registry for MPS III (Sanfilippo). Information obtained through the registry would be available for future U.S. clinical trials, and will accelerate future research by providing researchers with access to an existing database of pre-screened individuals who are willing to participate in rare disease research. It also will notify patients of opportunities for clinical trials should they be eligible.

How can I enroll? If you or a family member have been diagnosed with a rare genetic disease, you are invited to submit information to the registry. Patients or their parent/legally authorized representative should contact CoRDS via e-mail at CoRDS@ sanfordhealth.org or by phone at 605.312.6413 and provide: • name • contact information (mailing and e-mail address, phone number) • preferred method of contact and best time to contact CoRDS personnel will contact the individual to briefly discuss the registry, answer questions and send patients a consent form and a short questionnaire. For more information or to ask questions about the CoRDS registry, contact: Liz Donohue CoRDS administrator 2301 East 60th St. North Sioux Falls, SD 57104-0589 phone: 605.312.6413 e-mail: [email protected] www.sanfordresearch.org/cords

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Aldurazyme®, administered once-weekly, has been approved in the United States and in 15 countries of the European Union for long-term enzyme replacement therapy (ERT) in patients with a confirmed diagnosis of MPS I, to treat the non-neurological manifestations of the disease. Aldurazyme was developed by BioMarin and Genzyme under a joint venture agreement that assigns commercial manufacturing responsibilities to BioMarin, and worldwide sales and marketing responsibilities to Genzyme.

MPS III Patient Registry

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helpful information Shire announces new co-pay assistance program Shire believes that costs associated with rare disease treatments should not be a barrier to patient access. In 2011, Shire was able to help patients in the United States with their co-pay expenses and is pleased to announce enhancements to the program for 2012. Shire will assist eligible patients in the United States who have commercial insurance with 100 percent of their 2012 Shire enzyme replacement therapy co-pay expenses, including co-insurance and deductibles, regardless of financial status. For more information, call OnePath®, the product support center for Shire’s enzyme replacement treatments, at 1.866.888.0660 or visit www.onepath.com.

Furniture for Little People little people, BIG DESIGN is designer furniture for short people, and people with dwarfism or short stature. Created by Tracy Steele Designs, this furniture meets the ergonomic challenges of little people without sacrificing good design. little people, BIG DESIGN furniture features: • short seat depth and straight backs to help support the back and neck • low seat height so legs rest comfortably on the ground • high arms to rest on while reading • solidly built to support the weight of adults • steps for easy accessibility • adjustable for the height of guests For more information, visit www.lpbigdesign.com.

National Family Caregivers Association As a care provider, it is easy to become so focused on the one you are caring for that you forget to take care of yourself. The National Family Caregivers Association (NFCA) educates, supports and empowers individuals who care for a loved one with an illness or disability. From tips and how-to guides, to a story bank and pen pal program, the NFCA caregiver resource center provides a wealth of resources to support you as a caregiver. Sign-up to be part of the NFCA’s family caregiver community at www.nfcacares.org/join_nfca/ind_mem.cfm. Visit www.nfcacares.org/caregiving_resources for more information.

Transitioning to Adulthood Life is full of transitions. An important transition for youth with special healthcare needs and their families is the transition to adulthood. To make this process smooth and effective, begin early. Create a statement of needed transition services, addressing areas such as instruction, employment, community experiences and adult living. For more information, check out these transition resources: • Transition to Adulthood—explaining guidelines for transition and why transition is important (www.spannj.org/transition). • Healthcare Transition—resources and information focusing on a young adult’s transition from pediatric to adult healthcare (www.gottransition.org).

National MPS Society Web Site The National MPS Society’s Web site, www.mpssociety.org, strengthens our mission: support for families and research for a cure. The site’s aesthetics, crisp presentation and easy navigation encourages frequent visits from membership, donors, foundations and more. Some of the interactive features of the Web site include: • Members Only section with downloads, including the Online Directory with filter capabilities. (Send an e-mail to [email protected] for your Members Only password.) • Walk/Run and Fundraising pages, including event registrations, planned giving, Sponsor A Child For A Cure and more. • Donor-friendly online, one-time and recurring donation capabilities. • Store with shopping cart and internal payment processing. • Front page video, YouTube and conference presentations. • Daily news feed. • Active calendar and photo galleries. The Society is consistently working with our membership to innovate new ways of interacting with those touched by MPS. This public interface provides high-tech functionality and continues to send a global message that the National MPS Society is a leader in MPS and related diseases.

HealthTalker— A New MPS II Online Community In October, the Hunter Parents Community, an online community sponsored by Shire, was launched. The Web site is an exclusive forum for primary caregivers of children with MPS II to connect and share their personal stories and experiences, as well as give and receive tips for facing everyday challenges. In addition to strengthening the network of Hunter parents, the community aims to increase awareness about MPS II by encouraging primary caregivers to talk about Hunter syndrome with members of their community and to use their personal experience to help others understand this lifealtering condition. The Hunter Parents Community is not a forum to discuss medical, product or treatment options, but rather allows MPS II parents to support and learn from each other, and to raise awareness. To join the Hunter Parents Community, go to www.HunterPatients.com.

Electric Scooters for Little People Adaptive Living offers the GoGo Elite electric scooter for little people. With a shorter seat height, crutch holder and extra large rear basket, the GoGo Elite provides a comfortable solution for those with a smaller stature. For more information, visit http://adaptiveliving.com.

MPS Pendant Available! Exclusively designed for the National MPS Society, this beautiful pendant is a compelling representation of the courage our families have in their journey with MPS and related diseases. The designer of this piece has donated his time with an MPS family to make this available for you and your loved ones! Money raised from the sale of this beautiful pendant will support the general research program and help find treatments and cures. Please help us make a difference and treat yourself and your loved one to this beautiful pendant that transcends time and is unlike any other. It is a perfect any occasion gift for both women and men. 925 Sterling silver with rhodium plating ($62.50, includes shipping) Brass with rhodium plating and leather chain ($49.50, includes shipping) Pendants will ship directly from the National MPS Society while supplies last. Based on demand we intend to order more, but it can take up to six weeks for additional shipments to arrive. For more information visit our Web site and click “Logo” at the top, or call 919.806.0101.

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resources and helpful information

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NeedyMeds

Hosting a Regional Social Event

NeedyMeds is a non-profit resource devoted to making information about assistance programs available to low-income patients and their advocates at no cost. Databases such as Patient Assistance Programs, Disease-Based Assistance, Free and Low-Cost Clinics, government programs, special needs camps and other types of assistance programs are just some of the resources available.

A regional event is a great way for local families to meet and get to know other MPS families. A regional event can be as simple as having a family picnic, or elaborate as a mini conference. Hosting an event is not difficult. It can be a matter of making a few phone calls. Just reserve a kid-friendly and wheelchair accessible space, such as a park, church hall, local restaurant, pavilion, beach, etc. The possibilities are endless. Next, call the National MPS Society to help you print and mail invitations that you design. As a host, you can decide whether or not you want everyone to pitch in money or food, or if you want to make the arrangements and get sponsors.

Visit www.needymeds.com for more information.

Parenting Special Needs Free Online Magazine The mission of Parenting Special Needs is to provide parents of special needs children, of all ages and stages of life, both information and inspiration. Parenting Special Needs free online magazine provides practical tips, shares life’s lessons, tackles the challenges and celebrates the joys, while continually seeking change for the better with new and helpful information that is simplified to fit into your already busy schedules. A few of the magazine’s features include: Real Life with a Special Needs Child, S.O.S: Siblings Offering Support, Practical Tips, Special Needs Planning and Caregiver Care, along with information and resources to help navigate your course. Go to http://parentingspecialneeds. org/subscribe to subscribe.

The National MPS Society can even be one of your (or your only) sponsors. Every year, money is set aside in the budget to fund regional events (up to $750 per event). The money can be used for location rental, entry fees, food, speakers or other costs. It’s as easy as downloading the form from the Web site and submitting the first page (Look under Support: Family Support Program applications: Regional Social Events). “When Karina was first diagnosed with MPS, we couldn’t make it to a conference right away,” said Angela Guajardo. “Our first opportunity to meet other MPS families was when the Hodgkins family hosted a regional picnic at a park designed for special needs kids in Katy, TX. As a newly diagnosed family, it was so nice to be able to spend some time with other families that were going through similar things with their kids. It’s not always possible to attend a conference so the next best thing is an event in your area.” The Guajardos enjoyed the regional event so much that the last two years they have hosted Texas MPS Day at Morgan’s Wonderland in San Antonio. The Guajardos applied for the Society’s grant to cover the cost of the pavilion rental and entrance fees, however, the second year they did not need it because of other sponsorships. With the help of family members donating a few small gift cards, food and beverages were covered. Families were asked to bring dessert. The next year, a large sponsorship from a local grocery chain was obtained to cover the food. In addition, another Texas family secured a large sponsorship from Valero that covered the cost of the pavilion and the entry fees, with extra money left over to purchase gas and grocery cards to give away as door prizes, and a donation to the Society. Hosting a regional event can be as easy as throwing a party, but is so much more important than a regular party. It’s vital for families to connect with each other; we need the support of other families going through similar issues. MPS is not an easy disorder to live with, but what makes it bearable is the people we have supporting us. The National MPS Society is committed to supporting families, which is why money is set aside every year for these and other types of grants. Please consider hosting an event and being that person who brings MPS families together!

Suggested Reading The Strange Tale of Ben Beesley by

Matthew McNeil

About the Book Author Matt McNeil’s daughter, Waverly, just wasn’t getting the hang of it. Toilet training had come so easily to so many of their friends, many of them much younger than her. She was lagging behind in her speech too, and what words she did use were difficult to understand. At first, a doctor diagnosed her with a hearing loss, which seemed to explain so much. But after a few months of working intensely with audiologists and speech therapists, it became apparent that Waverly was facing something much more serious. By the spring of 2008, doctors at the Children’s Hospital of Philadelphia figured out what was wrong. Waverly’s developmental delays were caused by MPS III. The doctors advised that there were no good treatments available for this rare disease. Still worse news was to come. A month later the McNeils learned that Waverly’s little brother, Oliver, also had MPS III. Stunned by the fact that he would lose both his children by the time they were teenagers, Matt felt himself being pulled down by depression. In the winter of 2009, he started writing as a way to put some space between himself and his overwhelming grief. After a few years, he finished a book, The Strange Tale of Ben Beesley. Although Ben Beesley is first and foremost an exciting adventure story for middle grade readers (ages 9–12), it is an outpouring of a father’s hope for his children struggling against a terminal illness. “I couldn’t save my kids, so I came up with a fictional hero, Ben Beesley, and plopped him down in a similar situation,” said Matt. “I drew on our experience with MPS to make his quest as difficult as possible, and it was extremely cathartic to give him a fighting chance to succeed. Once I finished, I realized the book was actually quite good and could be just what I needed to help my kids. That’s when I decided to sell it and that every penny raised would be donated to the National MPS Society to support research programs.” More information, including purchase information, is available at www.benbeesleybook.com. The paperback edition is $14.99 and a Kindle edition will sell for $4.99. continued >>

The 411 on Disability Disclosure: A Workbook for Youth with Disabilities is designed for youth and adults working with them to learn about disability disclosure. This workbook helps young people make informed decisions about whether or not to disclose their disability and understand how the decision may impact their education, employment and social lives. Based on the premise that disclosure is a very personal decision, the workbook helps young people think about and practice disclosing their disability. The workbook can be downloaded in several formats at www.ncwd-youth.info/411-ondisability-disclosure.

Guide for Understanding the New Healthcare Law Available What’s going on with the new healthcare law? What does it really do for you and your family? If you’re confused and want to know the facts, you’re certainly not alone. Consumers Union, the publisher of Consumer Reports, has created a consumer guide to help you understand your options, including Web resources where you can get additional information. Go to www.prescriptionforchange. org/guide. For more information visit www.ConsumerReportsHealth. org/insurance.

35 resources and helpful information

Waverly and Oliver are two orphaned flies growing up, and hoping to stay unnoticed, in a garden ruled by a cruel spider named Ramsay. But when they risk everything to help a mysterious fly named Ben, they get bitten by spiders with a slow-acting and deadly venom. Ben sets out to save his friends by taking them on the long, dangerous journey across the garden to see Ramsay, who is the only one who can reverse the effects of the poison. The spider king, however, has no intention of helping anybody but himself. What happens when Ben finally comes face to face with Ramsay makes his quite a strange tale indeed.

The 411 on Disability Disclosure: A Workbook for Youth with Disabilities

Resources for Coping with Grief

resources and helpful information

36

•H  ello Grief is a place to share and learn about grief and loss. This beautiful online community includes articles, resources and forums. www.HelloGrief.org •F  oreverSibs strives to honor and recognize the unique role of brothers and sisters with rare diseases through social support and education, thereby decreasing their anxiety and isolation. www.ForeverSibs.org • Comfort Zone Camp is a fun and safe place for grieving children. A community where kids can come year after year and obtain tools to help them cope with their daily lives. www.ComfortZoneCamp.org

Assistive Technology Funding Assistance The National Assistive Technology Project supports the advocacy efforts of attorneys, advocates, service agencies, persons with disabilities and their families as they seek funding for assistive technology services and devices. For a list of participating organizations in your state, go to www.nls.org/paatstat.pdf.

>>

Live Laugh Lemonade: A Journey of Choosing to Beat the Odds by

Kendra Gottsleben

Kendra (MPS VI) chose to write this book not because she wanted to become famous or make a great deal of money, but rather to share her life’s challenges with others and to share how she stays positive with each and every challenge. “Many people have told me I have an amazing, upbeat attitude, even with all the barriers I have had to overcome, and that I need to tell my story of never giving up,” said Kendra. “In the book I talk about how I know how difficult life can be as a child, teenager, or young adult who has a medical condition or disability. And how if I can make an impact on even just one person’s life, I would be honored. “I have been tremendously fortunate that, even though I have MPS VI and am in a wheelchair, I have been able to have a pretty normal life. I have always tried to live my life with a positive outlook, and with the notion that every hurdle I have to endure teaches me something about myself and what direction I need to take in my future. I have never wanted others to pity me for my struggles because I do not pity myself. Having pity for myself will never help me obtain all my ambitions in life. Everyone has barriers to conquer no matter who we are, whether we are able-bodied or not, small or tall, young or old, rich or poor, bold or shy. I acknowledge that we need to allow ourselves time to cry, scream and get upset with some of those obstacles in life. But we must not dwell on them for too long because thinking about them too much does not aid us in reaching our individual goals and dreams. Life is full of ups and downs for us all; as long as we work through them we will be able to accomplish something great!” Live Laugh Lemonade: A Journey of Choosing to Beat the Odds can be purchased at http://kenimagine.storenvy.com. Kendra can be reached at: Twitter: @Kegottsleben Facebook: www.facebook.com/KendraGottsleben Blog: http://kendrascatchykorner.blogspot.com

Fishbowl Cards Offers Unique Greeting Cards for Special Needs Fishbowl Cards is a unique greeting card company with the focus on children, adults, families and friends living with special needs. This line of greeting cards, posters and figurines reflect the celebration of hope, recovery, improvement, achievement, love and support that children with special needs, their families and friends experience every day. Visit www.fishbowlcards.com/Default.aspx.

Genzyme Co-pay Assistance Program for Enzyme Replacement Therapies

Individuals in the United States who are enrolled in the 2012 Genzyme Co-Pay Assistance Program will receive assistance for their eligible drug related out-of-pocket expenses such as co-pays, co-insurance and deductibles. In order to provide support to as many people as possible, the Genzyme Co-Pay Assistance Program is open to eligible U.S. citizens or legal residents who have primary commercial insurance and are prescribed treatment with one of Genzyme’s enzyme replacement therapies regardless of financial status. In accordance with the law, the Genzyme Co-Pay Assistance Program is not available to individuals who are residents of Massachusetts or have coverage for prescriptions paid for in part or full under any state or federally funded healthcare program including Medicare and Medicaid. If you are not eligible for the program, do not wish to participate, or need help with outof-pocket expenses that are not covered by the program, call your Genzyme case manager who can review coverage options and refer you to other financial assistance programs that are available. Genzyme Case Managers are available to help answer any insurance related questions, including questions about the Co-Pay Assistance Program and eligibility criteria. Call your Genzyme case manager directly or call 800.745.4447, Option 3.

Hearing Aid Funding Assistance The primary focus of international service organization Sertoma is on assisting the more than 50 million people with hearing health issues and educating the public on the issues surrounding hearing health. The organization offers a hearing aid recycling program, a college scholarship program for young adults with hearing loss, as well as various community support programs. For more information, visit www.sertoma.org. Hear Now is a national non-profit program sponsored by The Starkey Hearing Foundation that provides hearing aids for people with limited income. Visit www.starkeyhearingfoundation.org for more information.

The Carol Ann Foundation has developed a video, “Living with Morquio,” to empower parents to make better informed decisions on the quality of their child’s health. Copies of the video have been provided to the Society and are available to MPS IV families at no cost. Contact the office if you would like the video, and we will mail you a copy.

www.MPSIdisease.com A Web site has been developed by Genzyme to provide parents and patients with information and resources on MPS I. This site provides valuable information on the disease, diagnosis, on-going clinical trials, and other references and services available to patients. Visit www.MPSIdisease.com.

MPS I Registry Access to information is critical to providing the best care for patients with MPS I. However, information on the disease is limited because of its rarity. A resource developed by Genzyme is now available for your physician or health care professional that is dedicated to improving the understanding of MPS I. With the MPS I Registry, your physician can access your data and compare it to aggregate data from around the world. Ask your physician to call 1.800.745.4447 ext. 17021 for more information.

MPS II Web site www.hunterpatients.com Shire HGT educational Web site focuses on MPS II (Hunter syndrome). The site is a resource center for the MPS II community to access information about the genetics, diagnosis, and management of MPS II, as well as information about the drug development process. In addition, the Web site provides a comprehensive overview of MPS II, including resources for patients and healthcare professionals, information on clinical trials and a patient outcomes survey, as well as the ability to stay informed as new information about MPS II becomes available on the site. Shire HGT expects to update and expand the site on a regular basis.

37 resources and helpful information

For more than 20 years, Genzyme has provided personalized support and assistance to the genetic disease community. As a part of its commitment to ensure access to treatment, it has expanded its support programs to include the Genzyme Co-Pay Assistance Program for enzyme replacement therapies.

MPS I Web site

www.mpsforum.com

resources and helpful information

38

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. If you’ve never been to the forum, please drop in and meet everyone. If you haven’t been for awhile, come back home. We miss hearing from you!

MPS VI Web site www.MPSVI.com BioMarin’s Web site, www.MPSVI.com, is designed especially for individuals with MPS VI (Maroteaux-Lamy syndrome), their families, and for healthcare professionals who care for patients with MPS VI. This site provides education and information about MPS VI which may be helpful to share with family members, educators and healthcare providers.

Aldurazyme® Web site www.Aldurazyme.com A Web site has been developed by Genzyme to provide parents and patients with information on Aldurazyme. The site includes a link to ask questions regarding MPS I or anything else related to treatment. Feel free to use this mechanism to reach a healthcare professional at Genzyme who will respond to your query in a timely manner. Visit www.Aldurazyme.com.

Youth Transition Toolkit: A Guide for Young People with Disabilities Transitioning to Adulthood This toolkit is now available online from Talent Knows No Limits, a public information campaign of the California Health Incentives Improvement Project. Developed in partnership with young people, the toolkit is designed as a how-to guide on preparing for transition to adulthood and making choices about their own healthcare, education, employment, finances, independent living, and social and recreational activities. Questions the toolkit helps youth address include: • What is Transition Planning? • What is an IEP and how can I lead my IEP meeting? • How can I manage my Social Security and medical benefits? • How does college differ from high school? • How can I obtain services for my disability during college? • What resources are available to help me choose the right career? • Is there assistive technology available that can help me secure a job? • How can I find accessible housing to live on my own? • What should I do to prepare for a job interview? While some of the services and resources provided are California statespecific, much of the guidance is applicable to youth in any state. For more information, visit www.tknlyouth.org/index.html.

Did you know there are several Family Support Programs available to help members of the National MPS Society? • The Family Assistance Program can help families or affected adults purchase durable medical goods not covered by insurance or other sources. Families or affected adults can request up to $3,000 annually. • The Social Gathering Program — Do you enjoy getting together with other MPS families? You can request funds up to $750 each year from this program to help with organizing a picnic or other social function. • Conference Scholarship Program — MPS families or affected adults can apply for financial assistance to attend an MPS Society family conference. • Continuing Education Scholarship Program — Affected individuals and their siblings, spouses and parents can apply for one of several $1,000 Continuing Education Scholarships. • Extraordinary Experiences — A new program for individuals with MPS and related diseases ages 14–24 to help create an extraordinary experience. Grants of $1,000 are available. • Medical Travel Assistance Program assists families with funding for travel expenses incurred for long-distance medical appointments. The program may reimburse up to $500 per affected individual, per 12-month period, in transportation costs for member families traveling to a medical appointment more than 200 miles from their home. Contact Laurie Turner at [email protected] for more information.

Parent Educational Advocacy Training Center: Help for Families and Professionals

PEATC’s mission is to build positive futures for Virginia’s children by working collaboratively with families, schools and communities in order to improve opportunities for excellence in education and success in school and community life. Its focus is children with disabilities. For more information visit www.peatc.org.

New NAGLAZYME.com Web Site Up and Running The new NAGLAZYME.com is now live and available for you to visit. You will find expanded content about MPS VI, its diagnosis and treatment with NAGLAZYME® (galsulfase) enzyme replacement therapy. The new Web site also has expanded features and functionality.

Apple’s Commitment to Accessibility For more than 20 years, Apple has provided new and innovative solutions for people with disabilities, allowing them to access­—and enjoy using—the Mac, iPod, iPhone, iPad and Apple TV. Apple includes assistive technology in its products as standard features—at no additional cost. For example, iPhone, iPad, iPod and Mac OS X include screen magnification and VoiceOver, a screen-access technology, for the blind and visually impaired. To assist those with cognitive and learning disabilities, every Mac includes an alternative, simplified user interface that rewards exploration and learning. And, for those who find it difficult to use a mouse, every Mac computer includes Mouse Keys, Slow Keys, and Sticky Keys, which adapt the computer to the user’s needs and capabilities. For more information about the many accessibility features built into Apple products, go to www.apple.com/education/special-education. Can’t afford iPad or iPod Touch for your child, school or therapy center? Here are some suggestions to get you closer to a free iPad or iPod Touch: • You don’t need an iPod or iTouch to open an iTunes account and begin building a library of free (aka “lite”) and discounted apps. Apps don’t expire after being downloaded, but special offers could. You might be able to use your Mac or PC for movies, podcasts, music and reading. continued >>

www.morquio.com Information about MPS IV can be found at www.morquio.com. Also available at this Web site is the Morquio registry where adults with MPS IV can register and families can register their child with MPS IV. Once registered, it is recommended that updates be made at least yearly. This natural history information is critical for development of treatments for MPS IV, providing evidence of drug effectiveness and supporting the approval of the drug.

MPS VI Community Web site www.MPSVI.net Log into the first Web site devoted entirely to the MPS VI community and: • Meet other people with MPS VI • Tell your story • Chat in real time • Search postings by topic Register for free to connect with your MPS VI community.

39 resources and helpful information

The Parent Educational Advocacy Training Center (PEATC) serves families and professionals of children with disabilities in the Commonwealth of Virginia. PEATC promotes respectful, collaborative partnerships between parents, schools, professionals and the community that increase the possibilities of success for children with disabilities.

MPS IV Registry

>>

resources and helpful information

40

Sites that link to sources of FREE iPads and fundraising resources: • Apps for Children with Special Needs (http://a4cwsn.com) • iHelp for Special Needs (www.ihelpforspecialneeds.com) • Lillie’s Pad: Your Special Needs Resource for the iPad and iPhone (www.lilliespad.com) • Squidalicious: The Adventures of Leo and his Potty-Mouthed Mom (www.squidalicious.com)

• Broadcast your need to everyone, everywhere. Write a quick explanation that friends and family can forward through e-mail and post on social networking sites. There can be an old device sitting forgotten in a friend’s junk drawer. If somebody knew their old iPad could make a difference, they might give it away instead of trading it in when they upgrade. Get the word out! • Borrowing is a great way to get an idea of what the user might need for device training, behavioral support, apps and accessibility. Figure out how the user is going to carry, reach and protect their device. If you can’t get the actual object of your desire into the hands of the user, try using an old iPhone with apps for your trial. • Fundraise. You don’t have to belong to a club or start a foundation to have a yard sale and put the money aside for an iPad. Ask a sorority, a civic group such as the Lions Club, or your niece’s Girl Scout troop to make your cause their cause. • Go to parent or professional support and information sites such as forums, social networking sites and blogs. These sites link to current iPad raffles, technology giveaways, free or discounted apps, and foundations accepting applications for free iPads. Search for sites that review special needs apps, discuss disability and technology, education and technology, a specific diagnosis, or provide special needs resources. Most sites offer readers multiple ways to receive updates. Choose one that you will check regularly; you need to find out about the latest opportunity ASAP. • Joining special needs awareness and support groups in your area (either online or in person) is a great way to learn about local resources. There might be funds and waivers that can reimburse you for an iPad, accessories and training. Some sources might even provide funds up front for special needs related uses. • Individual grants can be used to pay for an iPad. Foundations give away new or refurbished devices. Grants for special needs-related groups and businesses to fund technology programs are out there. Free iPads and iPods are out there, but competition is fierce. Write about your experiences in your grant request or application. Stand out from other deserving applicants by sharing how you tried to raise the funds, how you’ve educated yourself, that you are connected with local and online resources, you have an implementation plan, and that you are committed to helping someone with special needs meet their goals with an iPad or iPod.

donations in memory of…

Norman Dorsey

Earl Adams Jr. in memory of his grandson Mitchell Stump

Petey Feibelman on his birthday

Frank and Mathilde Bachman Kathleen Brandt Norma Lewis James and Hildegard McGeehan Joseph and Patricia McGuriman Jim and Lynn Shebesta Betty Skipper Thomas and Barbara Symons Dirk Vandersteen Vera Veil Delores Volz John and Margaret Volz William Volz

Kristofer Arnold’s 30th birthday Bill and Marge Hughes* Tony and Sherrie Roman

Carter Brotherton Jeffrey Hunter

Edie Burke Doug and Kirsten Laraby*

Owen Caldwell in memory of his grandson Drew Wanstall Marguerite Caldwell Barbara Jacoby

Matthew Caldwell on his 18th birthday Marjorie Austin

Brendan Carter Pat and Laura Jackson

John McGhee Cowin Ron and Beckie Adams* Mr. and Mrs. Thomas Adams Jr. Ashley Banks Thomas and Mary Elizabeth Hoyt Stephanie Landau Deborah Luthy Michael and Jo Alice Mospan Ryan Ortiz and Capital One’s Southeast Commercial Banking Rainbow Committee of Milton United Methodist Church Mary Bess Simmons Charlie and Rosie Waters Dr. Keith and Debby Waters Dr. Marshall and Emilie Waters, III Durand Wayland Rev. George and Joyce Wheatley Jr.

Foster and Mary Ann Wick

Phyllis Feibelman

Gabriella Giannone Christy Little

James Healy in memory of his son Scott Healy Catherine Bromberek Irene Clark Mike, Annette and Rick DuPlanty James and Jackie Gloyd Tommy and Marianne Healy Nanny and G. Tom Maher Thomas C. and Nancy Maher Robert McCormick Foundation Jeffrey and Katrina Shebesta Jean Willard

Andrea Johnson in honor of her nephews Wynn and Dorian Johnson Shedera Bausch Sylvia Bevilacqua Big Red Basketball Elsie Connelly Goodwill Industries of SE Nebraska Steve and Mary Jo Graphenteen Stephanie Kinser Vicki Marker Afiya McLaughlin-Johnson Ken and Linda Nicholson Kiley Roelfs Chris and Jason Sand Caitie Schrotberger Charles and Connie Stevens

Loyde Kiker in honor of his granddaughter Lindsey Efird Kate O’Loughlin Stephen and Patricia Sasser Storm Technologies

Jean Delmonico Rose Delmonico Liana Escott Johnnie and Katherine Hartgraves Noreen Howlett Pamela Jackson Susan Kaufman Catherine Kelleher Brian, Kris and Chelsey Klenke Theresa Kronebusch Charolotte Kurland Eugene and Bette Laatsch Annette Larson Ron and Kathleen Leishman Eduardo and Anita Luera Kristin Mateja Carri Mitrick Carolyn O’Malley Jean O’Malley Tim and Nancy O’Malley Jeffrey and Mary Orlando Chris and Beth Pattock Robert and Josephine Pauli Donald and Marie Reising Richard Robbins The Sarra family Mike Schleter, Terri and Jennifer Klein Baker Shelton Mary Stevens Joseph and Judy Vietri Brian and Julie Vietri

Thomas Koss Anne Marie and Bob Siudzinski

Katie Shine Frank and Nancy Aiello*

Clint and Zach Szemanski in honor of all those working toward a treatment Tracy Szemanski

Hannah Taulton Michael and Laurie Dorsey Susan Flaherty Jerry and Sheryl Hall Dennis and Teresa Shafer Scott and Suzanne Stauffer* Robby, Anita and Sam Taulton

Hobby Vanzandt Mr. and Mrs. Jerry Deutser

Eleanor Walker in memory of Steve Walker, and Nicholas and Matthew McNally Phil Brown family

in honor of… Conner Anhalt Mr. and Mrs. Jerry Deutser

Millie Anhalt Joe and Nina Brown Barry and Barbara Lewis* Sally Roberts

Millie Anhalt’s birthday

Katie Herbst

Barbara Eaker Gerry and Jay Karkowsky* Saranne Kosberg

Lee Matthews

Mel and Millie Anhalt

Mark Lessing Jr.

Lori Spinney-Flagg and John Flagg David Hooper Melissa King Maria Leone Milne and Janice Matthews Lisa McCarthy Brian Nowicki Michael and Cheryl Sciaraffa Elinor Twomey

Judge Howard Mays Jr. in honor of his greatgranddaughter Annabelle Bozarth

Mary Kirch in honor of her granddaughter Allison Kirch

Robert and Marsha Bozarth

Lorraine Baron Rick Baron Karen Beckley John and Jane Benedict Robert and Susan Byers Marjorie Carpenter Robert and Elizabeth Clarke Ruth Clarke Harold and Joyce Cohen James Doyle and Mary Coldsmith Randal and Mary Coldsmith

Nicole Morrissey

Cade Morrissey Andrea Priest Cynthia Anhalt

Irving Schatzberg John and Bonnie Hoegl

John Schmake’s father Cynthia Anhalt

Schlesinger Family Philanthropic Fund of the Jewish Communal Fund

Aidan Carter Julie Held

Sam Caswell Keith and Heidi Caswell*

Alexandra Collins Rachel Braukman

Jerry Deutser’s birthday Marvin and Joan Kaplan Susie Miller Dede and Connie Weil Melvyn and Cyvia Wolff

Sue Deutser Mr. and Mrs. Richard Pulaski

Jill Ditto Cynthia Anhalt

Allie Ehlinger’s birthday in honor of Jack Frye Rachel Lowe

Braden Farrell Beryle Ramsey continued >>

*Annual Fund donor

41

Jack Fowler

Brittany Sheaffer

Janice Peterson

Jeff and Libby Aiken

Kimberly Fowler

Brynlee Thompson

Steve and Cynthia Hamblen

Donald and Julie Ames Michael Ames Robert and Joanne Ames Ronald and Nancy Rossi

42

Kimberly Glover

donations

>>

Karina Guajardo’s 20th birthday

Cynthia Anhalt

Veronica Cortez Antonietta Ellard Carla Ellard Lucille and Kathie Fernandez Luis and Angela Guajardo

John T. Thornton

NE W MEM B ER S Brook Benefield

Morgan Motsinger

Moss Point, MS, adult with MPS IV

Tillamook, OR, mother of Annika Rose Motsinger, MPS III

Ronald Brown Kearney, MO, father of Isaiah and Christian Brown, MPS III A

Mark and Cindy Prosciak

Brittany Clubbs

Carley Trocheck Vickie McFarlan

Harpursville, NY, mother of Hunter and Kingston Clubbs, MPS II

Megan Weisenbach

Mary and Jimmy Dushane

Regina Osterhoudt Billings, MO, grandmother of Reiley Osterhoudt, MPS II

Deb Purcell North Vancouver, BC, mother of Trey Purcell, MPS II

Fairland, OK, parents of Peyton Dushane, MPS I

Mike Schneider

Lennie Forkas* Frank and Jane Middleton

Lori Fresina

Amber Snow

Wilmington, MA, friend

Joe and Nina Curcio

Christian Yard

Andrew and Stephanie Glock

Salt Lake City, UT, mother of Matthew Jay Montano, MPS II

Ford Inglis

Employees of Schneider Downs Pittsburgh Internal Audit Team

Williston, VT, parents of Travis Glock, MPS I

fundraisers

Pam Gross

Linda Cohen

Jennifer Klein

Dancing with Dominic

Olivia Guidry Amy Richardson

Lucas Hembree

Darla Elswick*

Sydnee Jensen

Mike Schleter and Terri Klein

Michael Lewandowski Sarah Varro

Olivia Lovell Marjorie Lovell*

Mr. and Mrs. James Maffitt Amy Barkley

Clayton Martin Hershel and Judy, Kaye, Josh and Joy Gilliland

Dustin Matz LeeAnn Adams

Danny Miller Dawn Morrison Douglas and Anita Richmond

Matthew Montano Amber Snow

Austin Nace Mr. and Mrs. E. Paul Kurst

Andre Neveu Faculty Senate of James Madison University

Reese O’Connell’s birthday in honor of Jack Frye Rachel Lowe

Grady Savage’s birthday in honor of Jack Frye Rachel Lowe

Mr. and Mrs. Richard Madden

Scotty Whitecotton

hosted by Jeanette Espinola in honor of Dominic Henriquez

Ernst and Young Jeans Day

Sammamish, WA, mother of Courtney Gross, MPS IV

Colleen and Shane Hood Caro, MI, parents of Lauren Hood, MPS I

Marcy Squires Phoenix, AZ, mother of Jason Lawrence Byrum, MPS I

Ken and Courtney Walker Woodland, WA, parents of Trinity Walker, MPS III A

Trenace Walker Pompano Beach, FL, mother of Tyler Walker, MPS I

in honor of Alexandra Collins

Sachin Kamble

Post Office Café Case Race

Irving, TX, parent of Sarvjeet Sachin Kamble, MPS III A

Jodi Westerlund

Attila Lajko

Cindy Wiley

Washington, DC, aunt of Peter Lajko, MPS IV

Lula, GA, mother of Andrew Wyatt Oliver, MPS I

in honor of the Lessing family

Trivia Night for Noah Mehling held by Hamilton County Firefighters Local 4416

matching gifts Alliant Energy Foundation, Inc. Allstate Giving Campaign Arch Capital Services Hewlett-Packard IBM Employee Charitable Contribution Campaign McGraw-Hill Companies Progress Energy Foundation

donations Sarah Aaserude and Todd Waddell Bill and Cathy Abernathy Stuart and Karin Adams Mary Starr Adams Dr. Mel and Millie Anhalt Randy and Cynthia Anhalt* Tim and Mikki Annis Anonymous Robert and Marjorie Austin Paula Baker Bryan continued >>

Charles Litchfield Bonneau, SC, father of Madison Litchfield, MPS IV B

Ruth Major Maumee, OH, mother of Aric Daniel Major, MPS II

Jamie McGuinniss Bronx, NY, parent of Michael McGuinniss, MPS I

Sucely Miranda Brooklyn, NY, parent of Wilian Zaldana Miranda, MPS I

Nicolette Moinet Raleigh, NC, friend of Megan Dean, MPS I

Jim Monaco Elmwood Park, NJ, cousin of Jason and Justin Leider, MPS II

Isabel Morales Bloomington, CA, mother of Ileany Ramos, MPS III

Carmen Mosley Monroeville, PA, mother of Andrue Mosley, MPS I

*Annual Fund donor

Halethorpe, MD, adult with MPS II

Naches, WA, adult with MPS VI

>> Wayne and Catherine Bardsley

Steven and Maria Foshay Jason and Jamie Fowler Steve and Betsy Fowler Atul and Surabhi Garg Richard and Ronni Gates Dennis and Chris Goggins Julia Gossett Charles and Shirley Hagermann Gerald and Sheryl Hall Mark Haskins Walt and Judi Hauck Mark and Darlene Hesprich Jacqueline Holt Todd and Jennifer Howard W. Andrew and Lauran Jack Earl and Doris Klenke Fred and Joyce Koehler John and Joyce Lane Robert and Katie Lawson Judith Leger Jeff and Deena Leider Monica Leone Hai and Kathryn Lieu Jamie and Jennifer Lipscomb Cynthia Logan* Barbara Lyons Dorothy Mask Michael McAtee

Patricia McCann Judith McKinstry Bill and Karen McNeil Monsanto Fund Theresa Morris Jim and Paula Moskal Mark and Tina Mulder Michael and Anita Muonio Austin and Dorothy Noll Bruce and Jeanne Palzer Thomas and Vickie Patterson Mark and MaryEllen Pendleton Beth Pletcher, MD RA Bryan Foundation* Samuel Ramsey Faith Rattman Tony and Sherrie Roman Richard and Marcia Roush Mike and Sandy Ruszkiewicz Katheryn Ruthruff Karlen Sanberg John and Sue Scott* Mike and Barbara Smith Joseph Smith Mr. & Mrs. William Stark Jr.* Tracy Szemanksi Hal and Laura Thorsrud Jon and Ellie Totz

Michael and Veronica Vacca Sent and Mary Visser Charles Vite* Marie Wegener Tom and Theresa Weisenbach Claude and Roselyn Wells Roy and Zezee Zeighami

43 donations

Dwight and Debbie Barkley Cynthia Barry* Jason and Amy Blair Mike and Grace Bodura Joe and Katherine Bonville Marie Bonville Daniel and Debra Brockman Jay and Judie Brooks Sharon Browne William Brubaker Bryson Foundation Nancy Bucher Mark and Stephanie Caldwell Rob and Diane Cassil Camille Chaires Michael, Margaret and Grace Ciacciarelli Rebecca Clarke Kent and Karlene Classen Stephen and Denise Clayton Leo and Janet Cook Billi and Jeremy Crockett Bart Barner and Patricia Cuddihee* Dr. Robert Desnick William and Bonnie Doster Jack and Tara Elston Josh Nall and family

*Annual Fund donor

n a t i o n a l m p s soc i e t y m e m b e r s h i p f o r m your name

affected individual’s name

date of birth

diagnosis relationship

address

city / state / zip

phone

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.

b $50 Family b $80 Foreign b $75 Professionals Corporate Memberships Available Would you like your name to appear in our online directory? b Yes b No Would you like to receive Courage, the Society’s newsletter? b Yes b No Would you like our publications in

b electronic (e-mailed) format or b hardcopy (mailed) format

Mucopolysaccharidoses (MPS) and related diseases are genetic lysosomal storage diseases caused by the body’s inability to produce specific enzymes.

44

classifications S y n d r o me

Syn drome

Eponym

Epon ym

Hurler, Scheie, Hurler-Scheie

Morquio A

E n z y m e D e f ic i en c y

En z yme Deficiency

a-L-Iduronidase

Galactose 6-sulfatase

S y n d r o me

Syn drome

Eponym

Epon ym

Hunter

Morquio B

E n z y m e D e f ic i en c y

En z yme Deficiency

Iduronate sulfatase

b Galactosidase

S y n d r o me

Syn drome

Eponym

Epon ym

Sanfilippo A

Maroteaux-Lamy

E n z y m e D e f ic i en c y

En z yme Deficiency

Heparan N-sulfatase

N-Acetylgalactosamine 4-sulfatase (arylsulfatase B)

MPS I

MPS II

MPS III A

MPS IV A

MPS IV B

MPS VI

S y n d r o me

MPS III B Eponym

Sanfilippo B

Syn drome

MPS VII Epon ym

E n z y m e D e f ic i en c y

Sly

a-N-Acetylglucosaminidase

En z yme Deficiency

b-Glucuronidase S y n d r o me

MPS III C Eponym

Sanfilippo C

Syn drome

MPS IX En z yme Deficiency

E n z y m e D e f ic i en c y

Hyaluronidase

Acetyl CoA: a-glycosaminide acetyltransferase

Syn drome

S y n d r o me

MPS III D Eponym

Sanfilippo D E n z y m e D e f ic i en c y

N-Acetylglucosamine 6-sulfatase

ML II/III Epon ym

I-Cell, Pseudo-Hurler polydystrophy En z yme Deficiency

N-acetylglucosamine-1phosphotransferase

Normally, the body uses enzymes to break down and recycle materials in cells. In individuals with MPS and related diseases, the missing or insufficient enzyme prevents the proper recycling process, resulting in the storage of materials in virtually every cell of the body. As a result, cells do not perform properly and may cause progressive damage throughout the body, including the heart, bones, joints, respiratory system and central nervous system. While the disease may not be apparent at birth, signs and symptoms develop with age as more cells become damaged by the accumulation of cell materials. r

B O A RD O F

directors Steve Holland, p r esi den t Amy Holland 1752 Hilltop Circle Fort Worth, TX 76114 817.625.6999 [email protected] [email protected] MPS I H-S parents

Stephanie Bozarth, vi c e

Kristine Klenke 7604 Sherry Creek Road Worden, IL 62097 618.888.2204 [email protected] MPS II parent

MaryEllen Pendleton presi den t

6203 Larstan Drive Alexandria, VA 22312 703.256.1980 [email protected] MPS IV parent

Tom Gniazdowski, t reasu rer Anne Gniazdowski 315 Meadowview Court Springboro, OH 45066 937.748.8809 [email protected] [email protected] MPS II parents

Austin Noll, s e c r etary 3735 Redwood Circle Palo Alto, CA 94306 650.521.0089 [email protected] MPS III parent

Jeff Bardsley 1209 Daviswood Drive McLean, VA 22102 703.547.7087 [email protected] MPS II adult

Dawn Checrallah 58 Leroy Drive Riverside, RI 02915 401.639.2689 [email protected] MPS I parent

56 E. Vinedo Lane Tempe, AZ 85284 480.831.2157 [email protected] MPS III aunt

S TA F F executive director

Barbara Wedehase [email protected] development director

Terri Klein [email protected] progra m director

Laurie Turner [email protected] a dminis trative a ss istan t

Lisa Todd

Kelly Rose

11111 Jordan NE Albuquerque, NM 87122 505.797.3603 [email protected] MPS II parent

[email protected]

Kim Whitecotton

S C IENTI F I C A D V I S O RY B O A RD

1413 Emigrant Way Modesto, CA 95358 209.544.2708 [email protected] MPS II parent

Gordon Wingate 16319 Jordyn Lake Tomball, TX 77377 832.498.1724 [email protected] MPS III parent

bookkeeper

Angela Guajardo [email protected]

Alessandra D’Azzo, Ph.D. Gideon Bach, Ph.D. Lorne A. Clarke, M.D. Robert Desnick, M.D., Ph.D. Patti Dickson, M.D. Matthew Ellinwood, D.V.M., Ph.D. Mark Haskins, Ph.D., V.M.D. John Hopwood, Ph.D. Joseph Muenzer, M.D., Ph.D.

Roy Zeighami

Elizabeth Neufeld, Ph.D.

6420 Diamond Drive McKinney, TX 75070 972.965.5253 [email protected] MPS III parent

Beth A. Pletcher, M.D.

Presi dent Emerita

Marie Capobianco Ernie Dummann Steve Holland Mary Majure Couture Linda K. Shine

Kathy Ponder, M.D. Mark Sands, Ph.D. Edward Schuchman, Ph.D. Calogera Simonaro, Ph.D. William Sly, M.D. Charles H. Vite, D.V.M., Ph.D. Steven Walkley, D.V.M., Ph.D. David Wenger, Ph.D. Chester Whitley, M.D., Ph.D. John H. Wolfe, V.M.D., Ph.D. Ed Wraith, M.D.

National MPS Society PO Box 14686 Durham, NC 27709-4686

NON-PROFIT ORG. U.S. POSTAGE

PAID CHAPEL HILL, NC PERMIT #74