Summer 2013
courage Volume 37 | No. 2
03 05 28 35 43 Major News National Power in Rare Disease Upcoming Synageva, MPS Numbers Impact Events Ultragenyx Awareness Collaboration Report 2013 family and Lysogene Day between Mt. Sinai Survey uncovers conference to be all announce Families nationwide and Icahn School impact of rare held Oct. 24–26 in treatment progress find unique ways of Medicine offers diseases on San Antonio, TX. to honor those hope with new patient & medical Register online affected treatment communities now!
0081 courage v4_web.indd 1 6/12/13 5:28 PM The National MPS Society’s office (ground floor on left).
Do you have a personal story or an article idea for a future issue of Courage? Please write to us and remember to send photos!
issue To submit information to Courage, please send text (preferably via e-mail) Spring to the address below. Photos should be labeled whenever possible. Please submission cutoff date note cutoff dates. Any information received after these dates will be January 1 included in the subsequent issue. issue Summer The articles in this newsletter are for informational purposes only, and do submission cutoff date not necessarily reflect the opinions of the National MPS Society and its April 1 board of directors. We do not endorse any of the medications, treatments or products reported in this newsletter, and strongly advise that you check issue Fall any drugs or treatments mentioned with your physician. submission cutoff date Courage reserves the right to edit content as necessary. July 1
issue Winter submission cutoff date October 1
National MPS Society PO Box 14686 / Durham, NC 27709-4686 t: 877.MPS.1001 / p: 919.806.0101 / f: 919.806.2055 e-mail: [email protected] / web: www.mpssociety.org
0081 courage v4_web.indd 2 6/12/13 5:28 PM TABLE OF contents 01
02 Letter from the President ON THE COVER 03 Letter from the Executive Director 04 Letter from the Development Director Carolyn White (ML III) 04 Letter from the Program Director 05 National MPS Awareness Day 07 Family News Jerry Klemm (MPS I) 10 Fundraising News 14 Making Headlines 16 Standing Ovation Angelica Mendoza 19 Remembering Our Children (MPS IV) 20 Legislative Update 24 A Warm Welcome 26 Research News 37 Resources and Helpful Information 41 Donations 42 New Members 43 Upcoming Events 44 Classifications 45 Board of Directors
MISSION STATEMENT The National MPS Society exists to find cures for MPS and related diseases. We provide hope and support for affected individuals and their families through research, advocacy and awareness of these devastating diseases.
0081 courage v4_web.indd 3 6/12/13 5:28 PM LETTER FROM THE 02 president
Every year in the fall, I has funded more than $4 million can’t help but remember when my for research grants which have three children were diagnosed with helped bring about clinical trials MPS I. It has been 19 years since leading to treatments of many that week in October of 1994 when MPS disorders. The Society has I first learned about the world of evolved into an organization that rare genetic diseases—a world that not only supports research, it strives soon consumed my previous reality. to support the many needs and The information my wife and I challenges of its families through were given about MPS I was sketchy education, family assistance and and the outcome of the disorder, awareness. dismal. Thankfully, there have been The most significant change since many changes over the years that my family’s diagnosis has been years. As a result, the Society will have been a support and help to enzyme replacement therapy celebrate this achievement at our families receiving their own MPS or (ERT). When my children were 2013 Annual Family Conference in related disease diagnoses. diagnosed, we were told there San Antonio, Oct. 24–26, 2013, with The biggest change since that may not be a treatment available a Genzyme-sponsored luncheon. time has been the dissemination in their lifetime. We didn’t know While this is cause for celebration, of information, especially the about Dr. Emil Kakkis and Dr. Liz I realize it also is cause for sorrow— Internet. When we wanted to know Neufeld, two researchers desperate sorrow that 10 long years after more about MPS I in 1994, we got to find funding for their successful the first approval, many families in the car and drove to a library research project to treat an MPS I are still waiting. The only solace is with a medical section, or we made canine colony with ERT. that the future is bright. Research long-distance phone calls to the It wasn’t until the summer of is quickly progressing and is doctors we read about in books at 1997 that we learned of an ERT very encouraging. My prediction the library or in Courage. Fourteen clinical trial for MPS I patients. We is that the next 10 years will long months after my children submitted the necessary medical yield unparalleled progress in were diagnosed, we bought our first information for our two oldest discovering treatments for all of home computer. My wife and children and in April of 1998, the MPS and related diseases. I took turns on the computer, often our son, Spencer, was selected So, my hope is that a family reading information about MPS all as the fourth child treated with receiving an MPS diagnosis today night long. ERT. Within six weeks, we knew has a very different experience Another positive change has been it was helping him tremendously. than we did 19 years ago. While it the evolution of the National Our daughters participated in is still incredibly difficult and life MPS Society. When I made my the phase III part of the trial, and changing, many quickly discover first phone call to the Society, I five and a half years after the trial that a treatment is available, while learned there was little research began, the FDA approved the others find out about progress being funded—it was considered drug in the United States in 2003. toward a treatment for their sort of a black hole with no end in A few months later, the drug was syndrome. In all cases, they have sight. Money raised by the Society approved in Europe. easy access to a mountain of primarily went toward family This year marks the 10-year information about the disease and conferences and printing Courage. anniversary of approval of ERT for a Society that is able and willing Today, in addition to organizing MPS I. This approval paved a path to help. r family conferences and printing that allowed other MPS diseases to Courage, the National MPS Society receive approval in the following
0081 courage v4_web.indd 4 6/12/13 5:28 PM Steve Holland LETTER FROM THE executive director 03
For most of the world, May 15 is just another day, but for everyone touched by MPS it is a day of recognition and awareness. This year it was much more than that. It was a remarkable day of announcements, announcements about treatments for our children. There has never been a time of such rapid growth in the world of Synageva MPS III B patient advisory board meeting MPS of natural history studies, new companies and clinical trials. It is MPS Society, at our conference last had the opportunity to talk with a testament to the significance of summer in Boston. Her research families from around the country. May 15 that we saw three press led to a publication in January in To put all this in perspective, it was releases that day. What an honor PLOSOne and a collaboration only 10 years ago when the first for our MPS community! announced May 15 between Mount treatment for MPS, Aldurazyme, Sinai School of Medicine and bene was approved, and we’ll have a Anthony Quinn, chief medical pharmaChem to conduct clinical special celebration at our San officer of Synageva BioPharm, studies of PPS in patients with MPS. Antonio conference. Hope to see noted in their press release, “We The Ryan Foundation will be are pleased to be able to support funding an initial study on MPS I you there! r the various organizations, patients and anticipates starting to enroll and families in their efforts to raise patients later this year. disease awareness around the world.” Laurie Turner and I joined Earlier in May, Lysogene representatives from Synageva announced receiving orphan drug in March when they hosted an status from the FDA. Lysogene has MPS III B advisory board meeting. conducted a successful safety gene Synageva is developing an enzyme therapy clinical trial in MPS III A in replacement therapy (ERT) for France and plans to expand their MPS III B and plans to enter into dialogue with the FDA so the Barbara Wedehase clinical trials in early 2014. United States can become part of their scope, allowing U.S. patients Ultragenyx announced on May 15 to benefit from future treatment. Jill Jepson, BioMarin; Stephanie Bozarth, National that their phase I/II clinical trial MPS Society vice president and MPS IV parent; Expect to hear announcements Barbara Wedehase, National MPS Society executive for MPS VII will begin this year in director; Michelle Samenfeld, BioMarin. the United Kingdom. Dr. Emil from Drs. Haiyan Fu and Douglas Kakkis, whose vision for Ultragenyx McCarty at Nationwide Children’s is treatments for rare diseases, Hospital in Columbus, OH. They developed the first ERT for an MPS are rapidly moving forward with disease, Aldurazyme for MPS I. You their gene therapy for MPS III A can read about Dr. Kakkis on our and MPS III B. website. BioMarin submitted a Biologics Dr. Calogera Simonaro reported License Agreement to the FDA on results from her research on April 1 for Vimizim, the ERT for pentosan polysulfate (PPS), with MPS IV. Stephanie Bozarth and Jocelyn Wong (MPS IV) and Barbara Wedehase funding support from the National I attended an MPS IV meeting and
0081 courage v4_web.indd 5 6/12/13 5:28 PM LETTER FROM THE development director
It is with great pride that inspired us with their generosity. 04 we acknowledge everyone who Take a look at our donor pages in participated in International this issue and perhaps your family MPS Awareness Day and showed will be inspired to make a gift or communities nationwide just how even host a fundraising event. wonderful MPS families are! There This summer you will receive were lunches, dinners, cupcakes, an appeal for our 2014 Annual speakers, fundraisers, walk/runs Fund. This campaign has become and plenty of purple to be shared a critical funding source for the by everyone. A Child For A Cure, Champion National MPS Society. Each year Through the generosity of a a Cure offers the opportunity the Annual Fund continues to grow network of families, friends, donors to adopt a runner for a walk/ because your spirit of philanthropy and volunteers, we have moved run event. Explore this heartfelt and willingness to share in the forward into 2013 with inspiring program and know that we will success of our mission is important achievements at raising funds make a difference with your help. to you. Reach out to family, friends for research and family support See page 12 in this issue of Courage and colleagues and ask them to programs. Still, we need to do more for more information. make a donation too. Let us work and we are gearing up for summer together and make this another fun, walk/runs, the Annual Fund In each issue of Courage we successful year! r and our exciting Champion a recognize with gratitude the many Cure program. Formerly Sponsor donors, small and large, who have
LETTER FROM THE program director
The Family Support assistance to host a regional social Committee is in full swing event! We are excited to have all of for 2013, recently awarding 28 ourTerri applications Klein available online. Continuing Education college If you have not already done so, scholarships. This is one of our please check out the new online most competitive programs and applications at https://mps. continues to grow each year. We onlineapplications.net/applications. were pleased to be able to fund I look forward to seeing many of you additional applications this year. in San Antonio at the conference. We also awarded travel assistance There is still time to register online grants to several families attending with transportation costs associated with a credit card at www.etouches. the MPS IV meeting at DuPont with a medical appointment more com/mpsfamilyconference. Children’s Hospital in July. than 200 miles from your home. The application deadline for our The conference promises to be “How can the family support conference scholarships is July 1; amazing, and the energy I receive programs help my family?” I hear there is still time to apply for being surrounded by you, my MPS this question often. We have many assistance. The Family Assistance family, is incredible. Thank you for programs that offer a variety of Program also helps with purchasing continuing to inspire and teach me benefits. Extraordinary Experiences durable medical goods denied by on a daily basis. r offers the opportunity for us to insurance. create a unique and special experience for individuals with Please give me a call if you have MPS ages 13 and older. Medical any questions about our programs, Travel Assistance Program will assist and don’t forget you can receive
0081 courage v4_web.indd 6 Laurie Turner 6/12/13 5:28 PM National MPS Awareness Day, May 15, is a way to honor everyone in the MPS community. It offers an opportunity to remember all the children and adults who suffer from MPS and related diseases; to think about the children we have lost; to recognize the doctors and scientists who are dedicated to finding a cure; and to remember each other and be 05 thankful for the strength and support we both give and receive.
national mps awareness day
The teachers at Dominic Espinola’s (MPS II) school hosted “Donuts for Dominic” and raised $500 for the MPS Society.
Maureen Williams made a video of her twin boys Leo and Seamus who have MPS III in recognition of MPS Day. Go to www.youtube.com/ watch?v=B9eXxyFP-g8 to see the video.
Jack and Caitlin (MPS I) Vespe celebrate MPS Awareness Day by wearing purple.
Barclay Early Childhood Center in Cherry Hill, NJ, celebrated MPS Day in honor of fellow student Jackson Dunn-Kraus (MPS II) and his sister Sydney. Jackson and Sydney’s mother, Carrie, handed out 425 purple ribbons and courage bracelets to the students and staff, along with MPS awareness and MPS II fact cards. She also raised $650 by selling MPS shirts.
“MPS has formed the person I am today. I have had a lot of struggles these past two years, but here I am —alive and grateful for everyone and everything in my life.”
(MPS I)
Armorel High School’s Key Club hosted MPS Week to raise awareness for MPS in honor of fellow Kali Gegenheimer student Ronnie Jay Cato (MPS II). Students raised more than $545 for the National MPS Society by selling ribbons and bracelets, and they released purple balloons on the playground to raise awareness. In addition, Key Club reporter Allison Moody wrote an article that was featured in a local newspaper. Maura (MPS I), Amber, Liam and Eric Mongan hosted a T-shirt fundraiser for MPS Day.
0081 courage v4_web.indd 7 6/12/13 5:28 PM 06
Allison Restemayer’s (MPS I) grandparents celebrate MPS Day in Gulfport, MS. Courtney Walker, mother of Trinity (MPS III), decorated a community window for MPS Awareness The Mississippi Ice Cream Corner Day with a butterfly for a child who passed within the last year, giving their name, age, diagnosis held their annual MPS fundraiser and angel date.
mps awareness day on May 15. Owners Janelle and John Kunellis (grandparents of Allison Restemayer, MPS I) wore purple and told stories about Allison and MPS all day long.
In addition, the Restemayer family wore purple on May 15 as a sign of strength, courage and hope for all the kids of the past, present and future who will battle MPS. Allison (MPS I) passed out purple suckers and ribbon tattoos to her classmates.
Allison wrote a book about her life with MPS as a 5th grade classroom assignment. Genzyme decided to help Allison raise awareness by For MPS Awareness Day, Austin Noll’s (MPS III) 4th grade class in Middleton, WI, surprised him printing her book. To see a video of by greeting him at the door with a big “Happy MPS Day” sign. They made T-shirts that said,“Team Austin,” and they made Austin a shirt with the number 1 on it. Allison reading her book, go to http://youtu.be/-sGgkJ0ynq0.
Sam Caswell (MPS I) eating his favorite dessert on MPS Day. MPS Day at Genzyme (from l. to r.) Dan Leonard, Genzyme; Dawn Checrallah; Nick Boyce (MPS I); Laurie Turner; Eric Crowley, Genzyme; Pauloni Dave-Potter, Genzyme
0081 courage v4_web.indd 8 6/12/13 5:28 PM family news 07
My name is Kali Gegenheimer. I was born with MPS I but I wasn’t diagnosed until the age of 11. I had been to Shriners, Vanderbilt, The Neuro-Science Center in Louisville, KY, and The Medical Center in Bowling Green, KY. I had doctors stumped. They were pointing toward juvenile arthritis along with seizures until an ophthalmologist during a checkup couldn’t see into my eyes to my optic nerve because of the cloudy corneas. They dilated my eyes to see if that would help but the clouding stayed the same. The doctor asked my mom if he could show her his medical book. When he brought it out he asked to see my hands, then he put my hands up to the hands in the book and told us we needed to get into a genetics doctor to see if his suspicion was right. That is how I was diagnosed with MPS I.
MPS I is very rare, and very special to me. Since I have been diagnosed I have kept my head on straight, always have it held high. I never let this disease get me down. I have been through so much these past six years with this disease on top of everyday stress with school, family and just trying to keep my life as normal as possible. It is very hard to try to live a normal life with all the doctors’ appointments and the treatments once a week. I wanted to send you Jerry’s (MPS I) graduation picture so the MPS In October I began having blackout spells where I would get dizzy and weak Society can share in our joy as we then pass out. On Nov. 1, 2011, I had stayed home from school because I was so celebrate this tremendous milestone dizzy and I had a major headache. While my mom had taken my grandfather and reflect back on the various to the doctor I got up out of bed to get something to drink. I made it halfway obstacles he has overcome to reach down the hall, then I started getting dizzy and I tried bracing myself but by this day. We are so grateful and the time I put my hands on the wall I had passed out. I went to the ER and blessed. was transferred to Kosairs Hospital in Louisville, KY. I stayed in the hospital for almost a week and had a bunch of tests run. They had suspicion of a pin stroke but I had no markings on the brain so they couldn’t fully determine if that’s what happened. On Thanksgiving the same thing happened. I had a bunch of MRIs and blood work. I got really bad headaches so they would give me a headache cocktail and I would be out for what felt like days.
There is so much more that has happened and there will be more to come, but I am prepared for whatever gets thrown at me. I am a fighter. I will never give up on my hopes and dreams and I definitely won’t quit fighting Katherine Klemm this disease. This disease has shaped the person I am today. I would really love to find a way to raise awareness. My genetics doctor, Dr. Kara Goodin at Weisskopf Child Evaluation Center in Louisville, thinks I would be a great spokesperson for MPS because of the way I look at the disease and the way I never let it get me down.
(MPS I)
0081 courage v4_web.inddKali 9Gegenheimer 6/12/13 5:28 PM Ava made her First Communion! She wore her maternal grandmother’s wedding dress that was made into a communion dress by her paternal 08 grandmother. She was given the honor to place the crown on Mary’s head during the ceremony which sent the rest of the church into an emotional celebration. I am a proud Godmother to know that she is being raised in such a supportive
family news and loving family and community.
, aunt/ Jessi Colund (Genzyme) with Erica Thiel (MPS I), during her Extraordinary Experience trip to Boston. Godparent of Ava Kremer (MPS III)
I’ve always thought there is nothing quite like being around other people who understand what a rare disorder is like, either because they live with a disorder themselves, work in the field or have family who are affected. Though none of these things guarantee other affected people “really get it,” most do, a feeling that can hardly be explained and most not in the rare Kelli Roessner disease community can’t understand. To me, MPS has represented something more—a chance to help others realize there is more to life than the next “big toy” or the next big job promotion, but instead there is a certain joy in
Ava Kremer (MPS III) with her Grandma and finding the small things in life, trying to enjoy the goodness in those people Grandpa Roessner who want to help and finding the good in bad situations.
I recently had the chance to work with Genzyme’s Running for Rare Diseases team whose purpose is to raise awareness of rare diseases and to raise funds for the National Organization for Rare Disorders (this year to create a program focusing on early diagnosis). I feel the program is much needed and will be wonderful, especially to help those who have symptoms but who may not have “classically presenting features.”
I was paired with Jessi Colund, a communications specialist at Genzyme, who was running the Boston Marathon for the first time this year. We got to know each other over the past few months leading up to marathon weekend. It was only in talking with nurses while having a shunt surgery earlier this spring that I decided to fly to Boston. The nurses thought I should do it, especially because, “How many chances do you get to be around other people who understand?”
Ava with her father, Clint I knew as soon as I was on the plane that I had absolutely made the best decision in deciding to go to Boston and join the patient partners and our marathon team for all the festivities. Soon after landing, Jessi and I found each other and it felt like someone I had known for ages, which was wonderful! We made our way to Genzyme’s manufacturing facility in Allston (coincidentally where Aldurazyme is bottled) where the Saturday night marathon dinner celebration was being held. We joined the rest of the runners, partners and families in attendance for a really great night with old friends, new friends and a general sense of “this is where I belong.” continued >>
0081 courage v4_web.indd 10 6/12/13 5:28 PM >> Afterward I went home with Kathleen Coolidge from Genzyme whom I’ve met many times before at various events. She happens to live near the MPS III family I was staying with for the weekend. Once again being with Jenn and her family was just another sense of “home with friends.” Jenn and her family are one of the nicest, most gracious families I know. 09 Monday morning brought a sendoff to our runners while us patient partners family news made our way to the Genzyme meeting spot at mile marker 14 to wait for our runners to pass by. There is nothing that can explain the feeling in the air that day, the feeling we where surrounded by others who where on the same journey, albeit with different disorders, experiences and stories, and for some different outcomes. We were all united to raise awareness collectively of what “rare” means, what it means to come together (especially poignant given the outcome of the marathon) and what it means to stand side by side no matter your differences, because we all had a mission: to cheer our runners and see a day where none of us would lose a child, none of us would have to undergo dozens of surgeries and none of us would have to bear the heartbreak of no treatment option and continued progression despite a treatment option.
Although the end to the marathon was incredibly heartbreaking, I think it brought all of us on this year’s 2013 Genzyme Boston Marathon team a little closer, and served as another reminder of how short and unpredictable life is. Genzyme had given many of us VIP passes to the bleacher section of the marathon finish line which was directly across from the bombs. I am grateful I had a guardian angel that day who kept me from using this pass. I am especially grateful our runners were all safe. I am grateful I had the chance to experience this weekend to thank those who helped make the weekend a reality (Jess, Genzyme, my employer, Jenn and her family and the MPS Society’s Extraordinary Experiences program). Thank you!
(MPS I)
Erica Thiel
Celebrating Ciara’s 17th and Hunter’s 15th birthdays (from l. to r.) Sheila and Johnny (MPS III) Thornton, Hunter Bennett (MPS III), Scotty Whitecotton (MPS II), Todd Johnson, Ciara Bennett (MPS III). On firetruck Kassi (MPS III) and Tyler Offenbacker.
0081 courage v4_web.indd 11 6/12/13 5:28 PM 10 fundraising news
Fundraising is the lifeblood of any non-profit and this is certainly true of the National MPS Society. Four times a year a member of the National MPS Society’s Fundraising Committee writes an article for Courage with the hope that it inspires one person or one family to take on the challenge of doing a fundraising event.
The Fundraising Committee has been doing awesome work in the five years Fundraising Committee: I have been off the board of directors. They have continued to grow the Jeff Bardsley various fundraising strategies, including the Annual Fund and major giving, Stephanie Bozarth and recently launched a planned giving program. All fundraising events Ernie Dummann and gifts to this outstanding organization are inspiring to the Fundraising Toni Ellard Committee and the entire board, and provide the lifeblood for the Society’s Anne Gniazdowski programs and events. Board members are just as committed to doing Tom Gniazdowski fundraising events as the members themselves. Steve Holland Larry Kirch Hosting a fundraising event is hard work but very gratifying. Our family has Terri Klein hosted six golf outings in Arizona over the last 10 years. Our Ace One for Amy Miller Allison golf outings have raised more than $110,000 for the Society. If you Lisa Muller have a family member who is into golf, tap into that interest by asking them MaryEllen Pendleton, chair to help organize a golf outing fundraiser. From our experience, it takes Kelly Rose about the same amount of effort to raise $4,000 as it does to raise $10,000. Lisa Todd With a $100 entry fee and $50 going to the golf course for the cart, golf, Laurie Turner lunch and 100 golfers, you can net $5,000 fairly easily. If you add a raffle, Barbara Wedehase such as a 50/50 raffle, you can net another $250 to $500. One gambling hole can net $500. You can add door prizes in the form of a raffle with $5 tickets for several hundred in net proceeds. It takes a bit of work but all items for the raffle can be donated by restaurants, golf shops, and the like. Hole sponsors for $100 and $250 can net another $1,800 to $3,000 without much work if you have connections to businesses and family members and friends who wish to make a larger gift. If you do a silent auction (which increases the amount of work considerably), you can likely net another $4,000 to $5,000. Any type of signature sponsor could bring in $1,000 to $5,000.
Our family always provides food and beverages for the 19th hole and buckets of balls for the driving range, bottled water for the carts and a sleeve of balls for the carts as well. Free tickets for the beverage cart also are a nice treat. All of this can be donated if you work at it. Once you get started and explain the cause, it’s easy to ask for donations of funds or items.
continued >>
0081 courage v4_web.indd 12 6/12/13 5:28 PM >> Golf Outing Scramble Recipe for 100 golfers:
Get together 100+ family and friends, mix in some sunshine and fun and you’ll have a great time!
Golf @ $50 = $5,000 11 Hole sponsors @ $250 and $100 = $1,800–$3,000 fundraising news Raffle @ $5.00 per ticket = $500 Gambling hole = $500 Silent auction = $5,000 Signature sponsor(s) = $5,000
You will need a committee since many hands make light work. If one person handles the golf, one person does hole sponsors, one does the raffle, one does the gambling hole and everyone works on raffle and door prizes and silent auction items, it will break up the work effort. Plan the event about eight to 10 months ahead of time if you have not done this before. Once you have done this a few times, it can be done with three or four months of preparation.
I hope this “how-to” inspires someone to host a golf outing but, if not, make a donation in someone’s honor or memory, give a little more to the Annual Fund or even think about making a planned gift from your estate. Every little bit helps a lot! r
National MPS Society Receives Three-Star Charity Rating
Having received the prestigious four-star Charity Navigator rating for the lastLarry few years, Kirch the National MPS Society learned in December 2012 that we were awarded a three-star rating, indicating that we “exceed or meet industry standards and perform as well or better than most charities in its cause.” The board of directors has reviewed Charity Navigator’s detailed ratings table and scoring system in order to identify ways to earn enough points to regain the four-star rating.
Consider hosting your own fundraising event. Whether large or small, the rewards are endless.
0081 courage v4_web.indd 13 6/12/13 5:28 PM Champion a Cure
Formerly known as Sponsor A Child For A Cure, the Champion a Cure adopt a runner program allows you or your family to raise money for research by 12 adopting a runner to participate in a walk/run event on behalf of a loved one with MPS or related disease without having to travel or host an event. Here’s how it works:
• Contact Terri Klein at [email protected] or at 919.806.0101 and let her know your family wants to participate.
• Adopt a runner for a participating 2013 National MPS Society walk/run event who will run on behalf of your child. The office will assign you a runner or you can select someone special to run for you. fundraising news • A picture of your child will be attached to the runner’s T-shirt the day of the event. The runner will receive a packet with your child’s photo, fun facts about your child and information about the National MPS Society.
• You participate in fundraising by collecting donations from your family, friends, neighbors and coworkers on behalf of your child.
• After the event, you will receive a 5x7 photo of your adopted runner with your child’s picture on their shirt and a champion medal.
Walk/runs across the country will be participating in this program. Event coordinators are ready for your participation.
This program has raised almost $45,000 because of families like yours! It is fun, heartwarming and gives everyone an opportunity to raise awareness and funds research, treatments and cures. Be a champion, join with the Society and let this be the year to send research soaring with dollars we raise!
0081 courage v4_web.indd 14 6/12/13 5:28 PM Ways to give and inspire hope in 2013 The National MPS Society continues to bring innovative fundraising tools to • Gifts in honor or in memory 13 its members by launching Courage Pages. Courage Pages allows you to create
of a special person. fundraising news a personalized web page under the National MPS Society website. Once • Matching gifts through your created, invite everyone you know via e-mail or social media networking sites, employer (check with your such as Facebook or Twitter, to visit your site and honor your cause. human resource office).
Your Courage Page can tell your story, share a photo and include your 1. Request a matching gift form from your employer. fundraising event and/or the goal amount you are trying to raise. This page can be for fundraising, or in honor or in memory of someone with MPS or 2. Complete the employee section related disease. You can share a donor recognition list and include additional of the form. links for an upcoming event. 3. Mail to the Society and we will process the gift! Courage Pages can be viewed at www.mpssociety.org; click on Courage • Courage Pages—brand new! Pages on the right side of the screen. If you would like to take part in this Share your family story with your opportunity go to http://mps.onlineapplications.net. Once you log in you own web page to raise awareness will be able to submit your Courage Page request. and funds. • Contribute through the The Society will input all data and upload photos. We want this to be as easy Combined Federal Campaign if as possible to spread the word about MPS and related diseases and bring you are employed by the federal a dynamic, individual approach to raising funds. Whether you have a goal government—CFC #10943. for individual fundraising or event fundraising, Courage Pages is a great • Designate the Society as a companion tool. member of your local United For more information contact Terri Klein at [email protected] or call Way. You will need to supply them 919.806.0101. with the Society’s name, address and Federal ID number (FEIN #11-2734849). • Give to 2013 Annual Fund. Fundraising Reminders • Major gift (usually 10 times that of your Annual Fund gift). • Don’t forget to submit a brief article for Courage about your fundraising • Planned gift (visit our website and success stories and suggestions—they are terrific resources for other search Planned Giving). families planning events. 1. wills or bequests • Check out the fundraising section on the website for more information or 2. charitable remainder trust or to post your event. charitable gift annuity • For free MPS Society brochures and donor envelopes, or to submit 3. charitable lead trust information for the website or Courage, send an e-mail to Terri Klein at 4. life insurance policy or 401(k) [email protected]. retirement funds Keep in mind—the Annual 5K Walk/Run and the Annual Fund are great 5. gift of appreciated assets ways to raise money for the National MPS Society. (stocks, mutual funds and bonds) • Gifts may be applied to the Society’s general operating purposes or restricted to one of our research, family support or legislative programs. CONTACT: [email protected] or 919.806.0101
0081 courage v4_web.indd 15 6/12/13 5:28 PM 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! 14 making headlines
Weightlifter Doesn’t Let His Condition Slow His Determination
Adam Basquil-White (MPS I) recently was featured in a video by the Orlando Sentinel. Go to http://landing. newsinc.com/shared/video.html?freewheel=90022&sitesection=seorlandosentinel&VID=24634005#. UVrVT9oHDoX.email to view the video.
Author Brings the Write Stuff Back Home Piqua grad visits three local schools
Author Matt McNeil, father of two Students at three Piqua schools were delighted Thursday when an author MPS III children, recently visited Piqua of a book they all read this year visited their school and gave an interactive City Schools to visit upper elementary presentation. Matt McNeil, a 1994 Piqua graduate and author, visited students who read his book, The Bennett, Washington and Wilder Intermediate schools and discussed a Strange Tale of Ben Beesley. The book that not only each of the students read, but a tale that is very near and dear to McNeil’s heart. Piqua Daily Call, Piqua, OH, ran a story about his visit, when Matt talked In preparation of McNeil’s visit with the fourth- through sixth-graders, to the students about using creativity the students read his book, which was published last year and is titled The and imagination in their school work Strange Tale of Ben Beesley. The book is about a fly named Ben who sets out and in creating solutions to problems. to save his friends from a cruel spider’s deadly venom and features an To read the complete article, go to adventurous theme aimed at middle-grade readers. http://dailycall.com/main.asp?Sectio McNeil was inspired to write the book after both of his young children, nID=5&SubSectionID=268&ArticleID daughter, Waverly, and son, Oliver, were diagnosed with a degenerative and =186912&TM=31128.98. Written by ultimately terminal genetic condition known as MPS III, or more commonly Will E. Sanders, April 11, 2013. known as Sanfilippo syndrome. Presently there is no cure for MPS III and no treatment is available for the rare developmental disease.
Since his book was published last year, he has raised more than $8,000 with the sales of the book to support MPS III research.
0081 courage v4_web.indd 16 6/12/13 5:28 PM Woman Advocates for Those with Rare Disease
Although the pain of losing her son is still there, Kris Klenke has fought An excerpt from an article that appeared through it, mainly by becoming the voice against the disease that took him in The Telegraph, Alton, IL, May 28, 15
at such a young age. 2013. Written by Jess Charlton. making headlines To read the complete story, go to In 2006, Klenke said there was an FDA-approved treatment. Although they www.thetelegraph.com/news/local/ tried to get Kraig into clinical trials, she said he did not qualify for clinical article_69ce70a4-c73e-11e2-b7bb- trials because of the severity of his disease. Klenke said her son was one of 001a4bcf6878.html#.UaTN6Z5XtSg. the very first people in the country to start the commercially available ERT gmail. (Enzyme Replacement Therapy) with an Elaprase infusion. The ERT is the only FDA-approved treatment for MPS II patients.
Kraig was 14 years old when the drug was approved, and although it helped Kraig in his life, so much damage that already had occurred to Kraig’s body was irreversible.
A year after he stopped his ERT treatment, Kraig died peacefully at home on Oct. 26, 2010, at age 18.
Now, Kris Klenke is a voice for MPS. In February, she went to Washington, DC, to meet with the Illinois congressional representatives to discuss the important issues related to MPS. Among them were U.S. Rep. John Shimkus, R-Collinsville, and staffers for U.S. Sens. Dick Durbin and Mark Kirk.
Klenke said there is a new clinical trial—not yet FDA-approved—at the University of North Carolina-Chapel Hill.
CMS Issues Proposed Rule for Marketplace Navigators
The Centers for Medicare & Medicaid Services (CMS) has issued a proposed rule outlining standards that navigators in federally-facilitated and state partnership marketplaces must meet and clarifying earlier guidance about the navigator program.
Navigators are organizations that will provide unbiased information to consumers about health insurance, the new Health Insurance Marketplace, qualified health plans, and public programs including Medicaid and the Children’s Health Insurance Program.
“Navigators will be an important resource for consumers who want to learn about and apply for coverage in the new marketplace,” said CMS Acting Administrator Marilyn Tavenner.
Millions of Americans will be eligible for new coverage opportunities in 2014. For those who are not familiar with health insurance, have limited English literacy, or are living with disabilities, navigators will serve an important role in ensuring that people understand the health coverage options available to them. Navigators will provide accurate and impartial assistance to consumers shopping for coverage plans in the new marketplace.
In addition to navigators, consumers will have access to assistance through services such as a call center, where customer service representatives can provide referrals to the appropriate state or federal agencies, or other forms of assistance programs including in-person assistance personnel, certified application counselors and agents and brokers.
0081 courage v4_web.indd 17 6/12/13 5:28 PM standing ovation 16 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: Maddie Holland, MPS I My name is Maddie Holland and I am 22 years old. I love painting and doing art projects, watching TV, going to the movies and hanging out with friends. I am happiest when spending time with my family. I love being with my sister, mom and dad. I like traveling with them, family movie nights, and just hanging out together laughing and telling stories. Since all of my siblings had MPS, we have spent a lot of time in doctors’ offices giving blood and having procedures. My brother, Spencer, used to always volunteer to go first. Now that he is gone, I do. My proudest accomplishments are graduating from high school, having a boyfriend and participating in clinical trials. I will always remember when we testified before the FDA in Washington, DC, and helped with the approval of Aldurazyme in 2003.
Logan McCloskey, MPS I Logan is a fun-loving and energetic little boy whose happiness and love of life is infectious to everyone he meets. He enjoys nothing more than laughing and playing with his friends. He loves to play little league baseball, with his dad as the coach. One of his favorite things to do is swimming. He can spend hours jumping in and out of the pool yelling, “cannonball!” He’s also a big fan of his parents’ ipads, and when entering a restaurant will ask, “Hey, do you have Wi-Fi here?” Most of all he loves his family; his parents, grandparents, aunts, uncles and cousins. It fills him with pure joy to spend time with them whenever he can. Although he knows he has an illness that can be very difficult for him to deal with at times, as a family we work together to ensure it’s just a part of who he is, not a reflection of what he can be.
Matthew Allen, MPS II My name is Matthew Allen. I am 22 years old and live in Cedar Rapids, IA. I was 5 ½ when I was diagnosed with Hunter syndrome. I do my best to do everything I wish. I never let the fact that I have MPS define who I am or what I can accomplish. My favorite thing to do is play darts. I was a member of a dart team this past fall and I was voted rookie of the year. Family and friends are very important to me. I am very close to my family and friends. I like to make others happy and have been told I have a great sense of humor.
0081 courage v4_web.indd 18 6/12/13 5:28 PM Raymond Gallo, MPS II
Ciara Bennett, MPS III 17 standing ovation
Ava Kremer, MPS III Ava is 8 years old. She has MPS III A and lives at home with her parents, Clint and Nikki, and her siblings, Ella, 7, Cora, 5, and Eli, 1. She enjoys music, especially finger plays like “Itsy Bitsy Spider.” She loves to watch Dora, Backyardigans, Cinderella and Barney. She attends Fort Recovery Elementary where she is an inspiration to her peers. Her teachers and classmates work hard to make her smile every day. Ava’s continued strength and perseverance inspire those around her to work harder and whine less. She has brought her whole community together to benefit others. The members of Fort Recovery have attended many purple lemonade stands. They even teamed together to build our family a handicapped accessible house. Ava recently received her first communion. The sense of peace that came over her was simply amazing! She has received many, many graces from the prayers of others. The reality of MPS is not fun, but the blessings of MPS are MANY!
Angelica Mendoza, MPS IV Angelica, age 12, was diagnosed with MPS IV A at age 3, and with Type 1 Diabetes at the age of 9. She travels once a week to Children’s Hospital in Oakland for intravenous treatments of enzyme replacement therapy. Despite the many challenges Angelica deals with on a day-to-day basis, she still manages to keep a positive attitude. Angie is a very sweet, friendly and lovable child. She always has a smile on her face. She’s brave and resilient. Angelica likes to dance, play Mindcraft on her iPad and enjoys Facebook.
Lauren Pope, MPS IV Amazing. Inspirational. Special. Courageous. Those are words people use to describe Lauren. She makes me proud every day. She has an awesome smile and still has the most infectious giggle! Lauren is now 17, finishing her junior year in high school, with a 4.0 GPA. She is active in photojournalism, is a member of the National Honor Society and of Serteens (a volunteer organization). Her activities are very limited by her inability to stand or walk for extended periods of time or distance, but she gives it her all and rarely complains. She has some great friends and she enjoys spending time hanging out with them. Lauren just went to prom with a group of girls, has a job, has big plans for college (and a broadcasting career) and is now driving! We had a car modified for her and she passed her driver’s test the first time! She will be able to graduate early in December this year. She always says she just wants to be a regular kid. She is so much more.
0081 courage v4_web.indd 19 6/12/13 5:28 PM Karima Rucker, MPS VI Karima turned 25 on May 31. Her greatest joy is being home with her aunt/ legal guardian, and with some few close friends. She also enjoys listening to some of her friendly para-transit driver’s funny and serious conversations 18 while being driven to her doctors’ appointments. Karima prides herself by working with her ventilator and suction machine by herself. She has taken a few continuing education courses from The Hadley School for the Blind. She can’t feel Braille dots due to poor sensation in her fingers, so the course is being read to her. Before Naglazyme, listening to any reading material was intolerable. Karima was recognized by the National MPS Society for Outstanding Contribution to the Health of MPS Children Worldwide for participating in the Naglazyme trial.
standing ovation Jacob Packer, MPS VI
Carolyn White, ML My name is Carolyn White, I am 51 years old and I have ML III and retinitis pigmentosa. Although I have had more than 20 major operations and many extended hospitalizations, I greet each day with a positive outlook. I graduated from college with an AA degree and have worked and lived independently most of my adult life, until recently when I developed a bone infection which requires me to now use a wheelchair and reside again with my parents. I enjoy reading, working at my computer, going to restaurants and the movies with my friends and relatives, and I especially enjoy traveling. I’m looking forward to a cruise to Alaska in August. I encourage everyone, no matter who you are, to look on the bright side of life and live your lives to the fullest. I greatly appreciate the honor of receiving the “Standing Ovation Award.”
0081 courage v4_web.indd 20 6/12/13 5:28 PM REMEMBERING
our children 19 Jeremy Fronczyk Michael McGuinniss 39, MPS III B, 3/13/13 18 months, MPS I, 12/20/12 Nicholas Fronczyk Mia Pruett 40, 1/6/13 19, MPS III, 3/24/13
Professor James Edmond (Ed) Wraith died April 10, 2013, at his home in the United Kingdom. An inspiration to many physicians and researchers, and a pioneer in the field of lysosomal diseases, Dr. Wraith was a beloved physician, researcher and teacher. He served at Royal Manchester Children’s Hospital, Central Manchester University Hospitals NHS Foundation Trust, St. Mary’s Hospital, Manchester, and the University of Manchester. The director of Willink Biochemical Genetics Unit at Royal Manchester Children’s Hospital, he also was lead clinician for the nationally commissioned Lysosomal Storage Disease Service, and an international authority on mucopolysaccharidosis diseases. Dr. Wraith published more than 200 peer-reviewed articles. His contributions, presence and voice will be sorely missed in the fight against lysosomal diseases, and especially by his many Prof. James Edmond Wraith colleagues and the patients for whom he cared.
Sylvester J. Sanfilippo (Sy), MD, 87, of Bloomington, MN, passed away on May 2, 2013. He earned a bachelor of science degree from the University of Rochester, and a master of science degree and a doctor of medicine degree from the University of Utah. Sy was a practicing pediatrician for 26 years, retiring in 1988. He is remembered by patients and their parents for his gentle and reassuring care, warm smile and natty bowties. In addition to practicing medicine, Sy was a medical researcher and a lecturer at the University of Minnesota Medical School. Sy’s research led to his
identification in the early 1960s of a rare and fatal genetic disease now Sylvester J. Sanfilippo (Sy), MD known as Sanfilippo syndrome (MPS III).
0081 courage v4_web.indd 21 6/12/13 5:28 PM Summer 2013 #63 20 legislative update Dear Society Members, Senators Graham (R-SC), Hoeven (R-ND), Begich (D-AK), Whitehouse (D-RI), Heitkamp (D-ND), Murkowski (R-AK) and Boxer (D-CA) cosigned the Senate Resolution 142 to designate May 15, 2013, as National MPS Awareness Day. We did it, again! As always, it was very exciting leading up to our MPS Awareness Day as many Society members are reaching out Legislative Committee: to their senators, sharing their personal story and requesting that they Stephanie Bozarth, chair consider cosigning this resolution. Many times we have no confirmation on Amy Barkley who is going to cosign until the actual day. Thank you to all our members who participated in the advocacy alert only days prior. If your senator did Jeff Bardsley not cosign, it is still a success because it gave you an opportunity to share Austin Bozarth a special story with your representative which may shape decisions around Dawn Checrallah rare disease legislation, healthcare, National Institutes of Health funding, Ernie Dummann government oversight, special accommodation programs, etc. Your story is Steve Holland critical because it provides your representative with the rare opportunity to Terri Klein hear a personal testimony about what it is like to have a rare disease, like MaryEllen Pendleton MPS, or to care for and love someone who has a rare, degenerative disease. Kelly Rose Thank you for participating and please continue to do so. Your voice is Laurie Turner important. Kim Whitecotton In addition to MPS Awareness Day, other legislative news includes the Roy Zeighami National Organization of Rare Diseases (NORD) celebrating the 30th Barbara Wedehase anniversary of the Orphan Drug Act. I was able to attend the NORD gala in DC, which was inspiring as always. I heard from many individuals who have played key roles in bringing attention to rare diseases and shaping legislation. I especially loved the personal stories from the rare disease community and how they have overcome and met challenges head-on to get to a brighter future. r
Chair, Committee of Federal Legislation Vice President, Board of Directors [email protected] 703.256.1980
Brain Research Through Advancing Innovative Neurotechnologies InitiativeStephanie Bozarth The NIH Brain Research through Advancing Innovative Neurotechnologies (BRAIN) Initiative is part of a new presidential focus aimed at revolutionizing our understanding of the human brain. By accelerating the development and application of innovative technologies, researchers will be able to produce a revolutionary new dynamic picture of the brain that, for the first time, shows how individual cells and complex neural circuits interact in both time and space. Long desired by researchers seeking new ways to treat, cure and even prevent brain disorders, this picture will fill major gaps in our current knowledge and provide unprecedented opportunities for exploring exactly how the brain enables the human body to record, process, utilize, store and retrieve vast quantities of information, all at the speed of thought. For more information, visit www.nih.gov/science/brain/ index.htm.
0081 courage v4_web.indd 22 6/12/13 5:28 PM Policy with Partners: 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 21 help to drive membership. The caucus will help to further educate our legislative update 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. • Develop a relationship with your representative and let your voice be heard! We asked our consultants at M+R Strategic Services to conduct an online training session for our members. The goal was to help our members learn how to meet with their members of Congress to advocate for research funding and other important policies related to MPS diseases. There’s no better way for us to fight for funding and policies to advance new treatments and ultimately a cure for MPS than meeting with lawmakers and telling our stories. A previously recorded training session is posted on the Society’s website; it takes less than an hour to view. There also are lots of great handouts posted on the website that provide a step-by-step guide to meeting with your lawmakers in your home state. Go to our website under Members Only— Legislative Toolkit. Under “How to Webinar,” click on “Guide to in-district Legislative Visits.”
NIH 2013 Budget Cuts Announced Agency releases details of the sequester’s effects
by , May 10, 2013
The numbers are in on the extent of the National Institutes of Health (NIH) budget cuts for 2013, ScienceInsider reported. As expected, due to the sequester the agency’s budget fell by $1.55 billion to a total of $29.15 billion for the year, a 5 percent cut.
The agency would have awarded 34,902 grants but is eliminating 1,357 of those, including 703 that would have been for new competing grants. The rest of the grant cuts would have been extensions of previously funded research.
TheKate NIH had Yandell already reduced some continuing awards by 10 percent, and the agency said that while some of those funds could possibly be restored, the grants would likely continue to be funded below their originally intended levels. Furthermore, the NIH has promised to increase ongoing grants each year with inflation in the past, but starting with grants awarded in 2012 it will no longer do so.
NIH Director Francis Collins took to Twitter to express his frustration with the cuts, soliciting researchers to tell their tales of the sequester’s impact under the hashtag #NIHSequesterimpact. “I’ll be sharing some of your stories to try to turn this mess around,” he tweeted.
“Despite the reduced funding, the NIH remains committed to the mission of seeking fundamental knowledge about the nature and behavior of living systems and the application of that knowledge to enhance health, lengthen life, and reduce the burden of illness and disability,” the agency said in a statement.
0081 courage v4_web.indd 23 6/12/13 5:28 PM April 16, 2013
The Honorable Fred Upton The Honorable Joe Pitts The Honorable Michael Burgess Chairman Chairman Vice Chairman Committee on Energy and Commerce Subcommittee on Health Subcommittee on Health 22 U.S. House of Representatives Committee on Energy and Commerce Committee on Energy and Commerce Washington, DC 20515 U.S. House of Representatives U.S. House of Representatives Washington, DC 20515 Washington, DC 20515
Dear Chairman Upton, Chairman Pitts, and Vice Chairman Burgess: The rare disease patient community greatly appreciates your leadership in offering a solution to the funding issues associated with the Preexisting Condition Insurance Plan (PCIP) Program and strongly supports swift passage of H.R. 1549, the Helping Sick Americans Now Act. The prohibition against preexisting condition exclusions that the Affordable Care Act (ACA) established is one of several vital insurance market reforms that will ensure patients with life threatening and debilitating, chronic rare diseases will have access to their treatment regimen. The PCIP program is a critically important component of the ACA market reforms because it affords those patients that currently lack insurance coverage due to these discriminatory practices an opportunity to enjoy temporary coverage legislative update until they can transition to meaningful coverage on Jan. 1, 2014. The decision in February to suspend PCIP enrollment could have catastrophic consequences for the rare disease patient community because of treatment delays. Impediments to accessing rare disease therapies not only lead to poor health outcomes, but also drive up health care costs due to increased physician office visits, emergency room interventions, hospital admissions, and surgical interventions. In order to ensure patient access, we strongly support your efforts to: • Protect program solvency for existing PCIP beneficiaries:The Department of Health and Human Services (HHS) has not disclosed how much of the $5 billion in funding remains for more than 100,000 currently enrolled PCIP beneficiaries. The anxiety resulting from this uncertainty is troubling for a subset of the population who has already had to overcome significant challenges in obtaining proper diagnosis and finding a viable therapeutic option. Additional program funding will remove any uncertainty that the program remains solvent for the remainder of 2013. • Lift the enrollment suspension: Due to the eligibility requirement of being uninsured for six consecutive months prior to PCIP enrollment, there are thousands of patients who would have been eligible to enroll in PCIP after the suspension dates of February 16th (Federal PCIP) and March 2nd (state-operated PCIP). Removing this condition and providing more funding would save and improve the lives of thousands in the rare disease community by affording them access to immediate coverage until they can transition to new coverage in January. • Provide safeguards to ensure a smooth transition to coverage: The statute requires HHS to develop procedures to transition PCIP beneficiaries into the qualified health plans offered in the Affordable Insurance Exchange. The rare disease patient community is very concerned that HHS has not taken such action, which is especially unsettling in light of the fiscal health of the PCIP program. Due to our relatively low number of patients per condition, the rare disease community is often overlooked when policies are being negotiated on Capitol Hill or implemented by HHS. Providing additional funding not only to sustain the PCIP program for the remainder of 2013, but also to give more uninsured patients with preexisting conditions the opportunity for immediate coverage will demonstrate a strong commitment to the rare disease patient community. Thank you for your support. Sincerely, Adult Congenital Heart Association Little Miss Hannah Foundation Alpha-1 Association The Mastocytosis Society Alpha-1 Foundation MLD Foundation CADASIL Association National Gaucher Foundation, Inc. COPD Foundation National MPS Society GBS/CIDP Foundation International National PKU Alliance Global Genes Noah’s Hope for LINCL-Batten Disease Hemophilia Federation of America Hereditary Angioedema Association cc: The Honorable Henry Waxman Immune Deficiency Foundation The Honorable Frank Pallone Lipodystrophy United
0081 courage v4_web.indd 24 6/12/13 5:28 PM 113th CONGRESS 1st SESSION S. RES. 142 Designating May 15, 2013, as “National MPS Awareness Day.” 23 legislative update
IN THE SENATE OF THE UNITED STATES MAY 15, 2013 Mr. GRAHAM (for himself, Mr. HOEVEN, Mr. WHITEHOUSE, Mr. BEGICH, Ms. HEITKAMP, Ms. MURKOWSKI, and Mrs. BOXER) submitted the following resolution; which was considered and agreed to
RESOLUTION Designating May 15, 2013, as “National MPS Awareness Day.” Whereas mucopolysaccharidosis (referred to in this resolution as ‘‘MPS’’) are a group of genetically determined lysosomal storage diseases that render the human body incapable of producing certain enzymes needed to break down complex carbohydrates; Whereas MPS diseases cause complex carbohydrates to be stored in almost every cell in the body and progressively cause cellular damage; Whereas the cellular damage caused by MPS— (1) adversely affects the human body by damaging the heart, respiratory system, bones, internal organs, and central nervous system; and (2) often results in intellectual disabilities, short stature, corneal damage, joint stiffness, loss of mobility, speech and hearing impairment, heart disease, hyperactivity, chronic respiratory problems, and, most importantly, a drastically shortened life span; Whereas symptoms of MPS are usually not apparent at birth; Whereas, without treatment, the life expectancy of an individual afflicted with MPS begins to decrease at a very early stage in the life of the individual; Whereas research has resulted in the development of limited treatments for some MPS diseases; Whereas promising advancements in the pursuit of treatments for additional MPS diseases are underway as of the date of agreement to this resolution; Whereas, despite the creation of new remedies, the bloodbrain barrier continues to be a significant impediment to effectively treating the brain, which prevents the treatment of many of the symptoms of MPS; Whereas the quality of life of the individuals afflicted with MPS, and the treatments available to those individuals, will be enhanced through the development of early detection techniques and early intervention; Whereas treatments and research advancements for MPS are limited by a lack of awareness about MPS diseases; Whereas the lack of awareness about MPS diseases extends to individuals within the medical community; Whereas the cellular damage that is caused by MPS makes MPS a model for the study of many other degenerative genetic diseases; and Whereas the development of effective therapies and a potential cure for MPS diseases can be accomplished by increased awareness, research, data collection, and information distribution: Now, therefore, be it 1 Resolved, That the Senate— 2 (1) designates May 15, 2013, as “National 3 MPS Awareness Day”; and 4 (2) supports the goals and ideals of “National 5 MPS Awareness Day”
0081 courage v4_web.indd 25 6/12/13 5:28 PM 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 to say hello and welcome them into our MPS family. If you have been a member 24 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 Geneva and Lucia.
My beautiful blue-eyed baby girl came into the world, designed with a special purpose and unique plan, and to participate in a journey specifically matched for her and her alone, my darling Lucia.
When I learned I was pregnant, I became ecstatic of the life ahead for my first child—kindergarten, ballet classes, picnics, play dates. But it was during my fourth month that I learned my baby was developing abnormally. Even with the most advanced technology, we could not confirm a prognosis. Months six, seven and eight, ultrasounds screamed something was terribly wrong but we just couldn’t find the culprit. With every month that passed, I relied upon my faith in God and hoped for the best.
Lucia (ML II) We were equipped for a high-risk delivery and Lucia arrived a few weeks early on Nov. 15, 2011. My daughter’s cry was meek and her color pale. She was placed in the NICU where she spent eight days struggling with feeds and connected to C-PAP. Surprisingly, Luci pulled through and we were fortunate to bundle her up and return home. Two weeks later, she was re-admitted for failure to thrive.
For the next two months, we lived and breathed at Helen Devos Hospital, a beautiful environment with large, gorgeous rooms, top-quality medical care and a stellar location in Grand Rapids, MI. But the beauty around us could not fix the complexities we were about to face. Test after test, study after study, MRIs, CAT scans, EEGs, screenings, diagnostic tests, blood and lab draws, body scans, X-rays—day after day we searched to diagnose Lucia’s condition. A sleep study would finally reveal she was suffering from severe sleep apnea and our only hope for her survival was a tracheostomy. Post surgery, her sweet, innocent cry was silenced, a g-tube was placed in her belly and wires hung out of her body like nothing I’d ever seen. Suction equipment and a feed pump replaced her bottle and pacifier, and the 20 bottles of breast milk I worked so hard to pump was now being stored in a freezer. The sudden shift was life altering, devastating, isolating and frightening.
Christmas and New Year’s passed, and our release date finally came. Both anticipation and fear flooded my mind as I walked out of the hospital doors and into our home. Reality hit. I was the sole responsible parent, provider
continued >>
0081 courage v4_web.indd 26 6/12/13 5:28 PM >> and caretaker for this beautiful, innocent baby who was now equipment- dependent and officially a special needs child. Instead of teddy bears and toys, Luci’s nursery was stocked with catheters, syringes, alcohol swabs, oxygen tubes, trache supplies, monitors, oxygen tanks, suction canisters, pumps and machines. 25
Nine months and three blood tests later, a gut-wrenching phone call warm welcome from genetics disclosed the discovery and confirmation of ML II. Another challenge, another up-hill battle, another twist of fate…what more could we face? Even though the final puzzle piece was found, it was a report that prompted doubt of its truth, more questions than answers and a feeling of utter desperation. But as life calls, we must move forward. I believe that desperation ignited a fire within me to fight for my daughter. My primary objective was to protect and defend my child and the life she deserved to have like any other child. Meeting that objective would require more from me, including extra patience, sacrifice, learning how to navigate the system and many sleepless nights. And to me, it’s worth every ounce of effort.
To date, Lucia and I are in constant training and practice with this life of special needs. We are learning together how to adapt, adjust, interact, Lucia (ML II) play, communicate and simply “find our dance.” Despite her setbacks and multiple physical limitations, Lucia is progressively growing and learning the foundations of movement and fine motor skills through PT, OT and intermittent oral/feed therapies. We are constantly reaching and setting new goals and hope to be approved for a standing frame this summer in Meaning of the name hopes to get her on her feet and mobile. LUCIA: LIGHT Our lives stay busy with medical appointments and, thankfully, Lucia has a dedicated team of PDN and 12 phenomenal medical specialists from cardiology to pulmonology. We also are very blessed with a devoted family that stands by our side through the constant trials of ML II, who so lovingly comfort and grace us with their time, help and unconditional support.
Given all that Lucia’s medical condition demands of her, nothing seems to hold her back. Lucia has an outgoing, spunky personality, loves to be up, sitting, playing, sang to and read to, and has the most amusing facial expressions I’ve ever seen. Her smile is contagious and her spirit is full of zest. She is a blessing and inspiration to everyone around her and an example of what it means to fight for your life. As her mother, I am blessed, yet I am cursed, for my lovely sweet Lucia is here only on borrowed time.
Today it is nearly eight months post-diagnosis and I am still struggling to accept Lucia’s condition, I’m not sure if I ever will. What I am able to accept is that Lucia is a GIFT, she is here, she is alive and she brings me happiness. She teaches me patience and to appreciate life here and now. Since pregnancy, I am learning over and over to live and embrace one day at a time, always giving thanks to God our Father in heaven for gracing me with strength, determination, power, courage, endurance and supernatural ability to rise above self and the superficial. Scripture says in Philippians 4:13 “I can do ALL things through Christ who strengthens me.”
Thank you Lucia for coming into my life, you are an angel sent to me from God.
0081 courage v4_web.indd 27 6/12/13 5:28 PM Geneva 26 research news
MPS II Neurodevelopmental Study Centers Observational Study Ann & Robert H. Lurie Children’s Shire Human Genetic Therapies, Inc. is sponsoring an observational Hospital of Chicago, IL clinical trial to evaluate the neurodevelopmental status of pediatric patients Dr. Barbara Burton with MPS II who may show signs of central nervous system involvement. Rachel Katz, MSW, clinical trial This is an observational study only, therefore no treatment for MPS II with coordinator an investigational drug will be offered. 312.227.6764 [email protected] This is a 24-month study during which 30 pediatric patients worldwide will be enrolled in an effort to identify, document and quantify Children’s Hospital Oakland, CA neurodevelopmental deficiencies. The goal of the study is to help establish Dr. Paul Harmatz the onset of and natural rate of cognitive decline in MPS II patients. Jacqueline Madden, PNP, clinical trial coordinator To be eligible, your child must meet the following requirements, as verified 510.428.3885 by a doctor: [email protected] • documentation of a deficiency of the iduronate-2-sulfatase enzyme • documentation of a normal enzyme activity in another enzyme or UNC Chapel Hill, NC documented mutation in the iduronate-2-sulfatase gene Dr. Joseph Muenzer Heather Preiss, RN, clinical trial • male, age 2 to 12 years of age coordinator • have sufficient hearing capacity, with or without hearing aids, to 919.843.5731 complete the required protocol tests [email protected] Contact one of the study centers listed to the right if you are interested in having your child participate in this study or if you have any questions.
Synageva BioPharma, a clinical stage biopharmaceutical company, has established preclinical data highlighting the ability of SBC-103 to reduce the accumulation of substrate in the brain of an MPS III B animal model. Accurate measurement of abnormal substrate in the brain has historically been more challenging in this disease and this is most likely a reflection of the methods used. Given the importance of being able to measure substrate to assess disease progression and the effects of enzyme replacement in lysosomal storage disease, Synageva has being working on developing improved methods for quantifying heparan sulfate disaccharides (HSD), the substrate that accumulates in MPS III B patients due to the NAGLU enzyme deficiency. This poster shows firstly that the method can clearly differentiate between affected and unaffected NAGLU deficient MPS III B mice and, secondly, that treatment with SBC-103, a recombinant human NAGLU, using intrathecal and intravenous dosing approaches produced dose-dependent HSD level reductions in the brain, liver and kidney tissues. These new data build on work presented last year in which Synageva demonstrated that it had been able to make for the first time recombinant human NAGLU enzyme with good mannose-6-phosphate dependent cellular uptake properties.
While Synageva’s MPS III B program is still in the preclinical stages of development, Synageva is aiming to initiate a natural history study in the second half of 2013, and is working toward initiating human clinical studies in 2014.
Further information regarding Synageva is available at www.synageva.com.
0081 courage v4_web.indd 28 6/12/13 5:28 PM The Importance of Clinical Trials “Finish what you start.” How often have we heard our parents or teachers say that phrase, whether it was finishing household chores, a paper or a project for school or some other task. That phrase also is really important when it comes to a clinical trial. 27 research news When a new clinical trial is announced, patients or their families are eager to get enrolled, particularly if it is the first potential treatment for a disease. The lucky few who meet the criteria for being in the study are delighted and eager to complete the necessary steps for enrollment. Then the challenge begins.
Scheduling your life as a parent of a child or as an older patient becomes increasingly complex as time goes on. Jobs are rearranged, family events are missed, school activities and social time with friends often have to be changed or missed. After many months of doing this it begins to take a toll on all concerned. You may ask, “Is it really worthwhile? Could I drop out of the trial? Would it really make a difference? Why does the trial have to last so long? Couldn’t I be treated closer to my home?”
These are all questions patients face as the many long weeks of the trial take their toll. If you find yourself asking, “Is it really important that I finish the trial?” The answer is YES! The FDA and other regulatory agencies require complete data on patients in order to do their analysis. If you drop out before the end, your data might not be useable and the company may end up not having enough reliable data for a submission to the regulatory bodies. This could mean that the data could not be submitted or would be delayed while more patients are recruited, leading to a delay in having the drug available for all patients who want it.
Clinical trials take a long time because changes occur slowly. This is particularly true in lysosomal diseases. Unlike medications that relieve pain or lower blood pressure where change is seen more rapidly, it takes many months of treatment for patients to see a change in their three-minute stair climb or six-minute walk test, nor is there a simple blood test that would quickly show the medication is effective.
Clinical trials are generally conducted at a limited number of sites. There are a limited number of qualified investigators and clinics, and setting up each center is very time consuming and costly. It also is easier to arrange transportation and housing if patients are traveling to a limited number of centers. It is difficult to do a clinical in a local setting. Often there is not trained staff to administer the medication or to complete the necessary assessments at each visit.
So, should you finish what you start if you are enrolled in a clinical trial? Absolutely, YES. Your data helps all the other patients who need the medication, both now and in the future, and helps to ensure the trial is completed on time. You can pat yourself on the back when the new medication is approved. You played an important role in helping other patients be able to receive the new medications. Congratulations on a job well done!
0081 courage v4_web.indd 29 6/12/13 5:28 PM Icahn School of Medicine at Mount Sinai and bene pharmaChem Gmbh to Collaborate on Clinical Studies for Mucopolysaccharidoses
28 The Icahn School of Medicine in MPS animal models that PPS to benefit patients with MPS at Mount Sinai has signed an has the effect of reducing the and their families,” said Barbara agreement with bene pharmaChem chronic inflammation associated Wedehase, executive director of the GmbH to collaborate to conduct with substrate accumulation, National MPS Society. “We are long- clinical studies of pentosan resulting in improved motility time supporters of Dr. Simonaro’s polysulfate (PPS) in patients and a slowing of bone/cartilage research and look forward to the with MPS. The company, based disease. These effects were superior results of this collaboration.” in Germany, is the sole producer to other anti-inflammatory drugs Mount Sinai and bene are working research news of pharmaceutical pentosan such as anti-TNF alpha antibody with leading MPS clinicians to polysulfate. therapy. Their study, “Pentosan design an appropriate clinical Polysulfate: A Novel Therapy for The announcement was made trial to evaluate the safety and the Mucopolysaccharidoses,” was on Wednesday, May 15, which efficacy of PPS. Drs. Simonaro and published by PLOSOne on Jan. 24, is International MPS Awareness Schuchman are working to identify 2013. Day. MPS are a group of inherited an optimal administration of PPS metabolic diseases in which a The agreement between Mount for clinical study in MPS patients. defective or missing enzyme Sinai and bene also includes a Ongoing studies include an causes large amounts of complex supply of PPS for the clinical assessment of the pharmacokinetic, sugar molecules to accumulate trials and licensing arrangement biodistribution and toxicological in harmful amounts in the body’s to support approval and properties of pentosan polysulfate cells and tissues. This accumulation commercialization of PPS for in the specific context of MPS causes permanent, progressive MPS patients. disease, as well as identifying the cellular damage that affects optimal formulation. “We are excited by the potential appearance, physical abilities, of pentosan polysulfate for the The Ryan Foundation for Orphan organ and system functioning, and, treatment of MPS and other Disease Research will be funding in most cases, mental development. lysosomal storage disorders,” said an initial study on MPS I, and Currently there is no cure for these Drs. Simonaro and Schuchman. anticipates starting to enroll MPS disease syndromes. Medical care “Our primary goal has been to patients later this year. is directed at treating systemic evaluate the safety and effectiveness conditions and improving the of this drug, first in MPS animal person’s quality of life. models, and now, in a collaboration The original discoveries with bene, in clinical trials in MPS demonstrating the utility of PPS patients. We are very pleased that for the treatment of MPS and bene will collaborate with us to test other lysosomal storage diseases PPS for MPS in a formal clinical were made in the Mount Sinai trial setting, so that the therapy can laboratories of Calogera M. be approved and available for use Simonaro, MPh, PhD, associate by all patients. We will continue to professor of Genetics and inform the MPS patient community Genomic Sciences, and Edward of our efforts.” H. Schuchman, MPh, PhD, “We are encouraged by this professor of Genetics and Genomic agreement between Mount Sinai Sciences. Drs. Simonaro and and bene, which has the potential Schuchman have demonstrated
0081 courage v4_web.indd 30 6/12/13 5:28 PM The National MPS Society received the letter below on May 31, 2013: Dear MPS Patient advocacy groups: Janssen is pleased to have hosted an advisory panel of MPS experts on May 20, 2013, and, while we do not have scientific expertise in this area, we are 29 grateful to have contributed to the sharing of current scientific information research news on pentosan polysulfate (PPS) and MPS in the interest of patients. The meeting accomplished the objective of sharing the science of PPS in the treatment of patients with interstitial cystitis, the latest understanding of the MPS family of diseases, and the results of some studies using animal models of MPS. Although there was robust discussion during the advisory panel meeting, based on the data shared, there was not a scientific consensus regarding the initiation of patient studies based on an animal study. With respect to the recent news about Mt. Sinai and bene pharmaChem GmbH, Janssen respects the exclusive relationship between Mt. Sinai and bene and the need for them to maintain the confidentiality of their ongoing research. With this in mind, Janssen is certainly willing to continue further sharing its knowledge of PPS, as is appropriate and helpful. At Janssen, we are inspired by the ongoing efforts in the interest of patients with MPS and we wish Mt. Sinai and bene well as they pursue clinical research in this area. We are pleased to see a potential path for patients as the research moves forward from animal models. We sincerely hope that this may result in progress and a benefit to the health and wellbeing of MPS patients and their families. Warm regards,
Director, National Patient Engagement Strategy Janssen Inc., 19 Green Belt Drive, Toronto, ON, M3C 1L9 P 905.726.8653 | C 647.407.9737 [email protected]
MPS III Patient Registry MartineTeam Sanfilippo Elias 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 For more information or to ask who are willing to participate in rare disease research. It also will notify questions about the CoRDS registry, patients of opportunities for clinical trials should they be eligible. contact: How can I enroll? Liz Donohue If you or a family member have been diagnosed with a rare genetic disease, CoRDS administrator you are invited to submit information to the registry. Patients or their 2301 East 60th St. North parent/legally authorized representative should contact CoRDS via e-mail at Sioux Falls, SD 57104-0589 [email protected] or by phone at 605.312.6413 and provide: phone: 605.312.6413 • name e-mail: [email protected] • contact information (mailing and e-mail address, phone number) www.sanfordresearch.org/cords • 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.
0081 courage v4_web.indd 31 6/12/13 5:28 PM 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. 30 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 and Children’s Hospital Oakland. For additional infor- mation, visit www.clinicaltrials.gov (NCT01509768) or contact the site coordinators:
research news Children’s Hospital and Research Center Jacqueline Madden, PNP, CCRC, 510.428.3885, ext. 5745, [email protected] Principal investigator: Paul Harmatz, MD
University of Minnesota Brenda Diethelm-Okita, 612.625.1594, [email protected] Principal investigator: Chester Whitley, PhD, MD
Clinical Trials
MPS I Study participants will have:
MPS I Intrathecal Enzyme Replacement • up to 10 treatments given one to three months apart Clinical Trial Information over two years (treatment group); or four treatments given three months apart beginning at month 12 The Los Angeles Biomedical Research Institute at (control group); Harbor-UCLA Medical Center in Torrance, CA, and the University of Minnesota are collaborating on a Study of • physical examinations (general and neurologic); Intrathecal Enzyme Replacement Therapy for cognitive • neuropsychological testing for cognitive decline and decline in patients with MPS I. MRI of the brain; and The purpose of this research study is to find out • reimbursement/payment of travel expenses. whether giving enzyme replacement therapy with Aldurazyme® as an injection directly into the cerebral Additional details about this clinical trial can spinal fluid (the fluid around the spinal cord and be found at www.clinicaltrials.gov; search under the brain) can stabilize (keep from getting worse) “mucopolysaccharidosis.” or improve cognitive decline in patients who have MPS I. The term “cognitive decline” refers to a change If you are interested in this study or would like more for the worse in the ability to think and learn. Difficulty information, contact: with thinking, memory, language, concentration and Dr. Agnes Chen decision making are some signs of cognitive decline. 310.222.4160 / 310.782.2999 (fax) / [email protected] To be eligible for this study, you or your child must be or willing and able to comply with the study procedures Dr. Patricia Dickson and meet certain criteria: 310.781.1399 / 310.782.2999 (fax) / [email protected]
• 6 years of age or older MPS I Intrathecal ERT for Children Being Considered for Transplantation • diagnosed with MPS I The University of Minnesota has recently obtained • show evidence of cognitive decline on a screening FDA approval for the delivery of laronidase into the evaluation spinal fluid of children with Hurler syndrome being considered for marrow/cord blood transplantation. continued >>
0081 courage v4_web.indd 32 6/12/13 5:29 PM >> The goal of these studies is to decrease the This phase I/II clinical trial enrolled patients with neuropsychologic decline that has been observed in MPS II between the ages of 3 to 8 years with evidence children with MPS I from the time the patients are of early neurocognitive decline using an open-label, initially evaluated to the time they are one year from three-dose trial design. This clinical trial had both transplantation. The hypothesis is that there is a a treatment group (12 study patients) and a control significant delay in achieving sufficient enzyme levels group (four study patients) with the control group 31 in the brain following transplantation, and that this eligible to receive intrathecal enzyme after a six- research news may be overcome by giving enzyme into the spinal fluid month observational period. The monthly intrathecal until this occurs. administration of idursulfase-IT was given using a Port- A-Cath® II Low Profile™ intrathecal implantable access Patients with MPS I who are between 8 and 36 months system manufactured by Smiths Medical MD, Inc. (St. of age whot have not previously received enzyme Paul, MN) that required surgical implantation. therapy and are being considered for transplantation at the University of Minnesota are eligible. Patients A phase III trial is being considered. If you are receiving laronidase in the spinal fluid also will be on interested in obtaining more information about intravenous laronidase prior to transplant. The study the clinical trial, contact Dr. Joseph Muenzer at will involve four doses of laronidase given during a 919.966.1447 or the study coordinator, Heather Preiss, lumbar puncture (spinal tap) approximately three RN, at 919.843.5731 at the University of North Carolina months before transplantation, at the time of admission at Chapel Hill, NC. to the hospital for the transplant, three months after the transplant and six months after the date of the MPS III transplant. The principal investigator of the study, Phase I/II Safety, Tolerability, Ascending Dose Dr. Paul Orchard, can be reached at 612.626.2961 or and Dose Frequency Study of Recombinant by e-mail at [email protected]. Alternatively, Teresa Human Heparan N-Sulfatase (rhHNS) Intrathecal Kivisto, nurse coordinator with this study, can be Administration Via an Intrathecal Drug Delivery reached at 612.273.2924 or by e-mail at TKIVIST1@ Device in Patients MPS III A Fairview.org. Shire Human Genetic Therapies is developing a MPS II sulfamidase enzyme replacement therapy (ERT) rhHNS for patients with MPS III A. rhHNS is being MPS II Intrathecal Enzyme Replacement administered into the cerebrospinal fluid via a Clinical Trial surgically implanted intrathecal drug delivery device Shire Human Genetic Therapies is sponsoring a clinical (IDDD), because when administered intravenously it trial at the University of North Carolina at Chapel Hill does not cross the blood brain barrier. to learn if direct administration of recombinant enzyme This study is a multicenter, multiple-dose, dose into the fluid around the brain and spinal cord is safe escalation study designed to evaluate the safety, and a possible treatment for children with MPS II with tolerability, and clinical activity of up to three dose developmental delays. The principal investigator for levels (two doses [10 and 45mg] monthly and one dose the clinical trial “A phase I/II safety and ascending [45mg] every other week for six months) of rhHNS dose ranging study of idursulfase administration via an administered via an IDDD in patients with MPS III A intrathecal drug delivery device in pediatric patients ages greater than or equal to 3 years of age. with MPS II who demonstrate evidence of central nervous system involvement and who are receiving The study is ongoing but no longer recruiting patients. treatment with Elaprase” is Joseph Muenzer, MD, PhD. The estimated primary completion date is September 2012 (final data collection date for primary outcome Currently there is no approved therapy for treating measure). the brain and spinal cord in patients with the severe form of MPS II. The goal of this study is to give a new Patients who have completed all study requirements in preparation of iduronate-2-sulfatase (idursulfase-IT) this study will be invited to participate in an open-label directly into the fluid surrounding the brain and spinal extension study that will be designed to evaluate cord (intrathecal administration). The new form of long-term safety and clinical outcomes of intrathecal iduronate-2-sulfatase has not been used before in administration of rhHNS. patients with MPS II and is considered investigational. It has not been approved by the FDA or any other regulatory agency. continued >>
0081 courage v4_web.indd 33 6/12/13 5:29 PM >> The phase I/II clinical study is being conducted at two Additional information about the study can be found at sites: Emma Children’s Hospital, Academic Medical www.clinicaltrials.gov/ct2/show/NCT01474343?term= Center in The Netherlands by Dr. Frits Wijberg, and the MPS+IIIA&rank=4. St. Mary’s Hospital in Manchester, UK, under the MPS IV 32 direction of Drs. Simon Jones and Ed Wraith. The letter to the Society from Shire about the study can be BioMarin Pharmaceutical, Inc. announced April 1, accessed on our website, under the Clinical Trials 2013, the submission of a Biologics License Application section. to the U.S. Food and Drug Administration for Vimizim Additional information about the clinical trial can be (BMN-110, elosulfase alfa), an enzyme replacement obtained at http://clinicaltrials.gov/ct2/show/NCT011 therapy for MPS IV. 55778?term=MPS+III+intrathecal&rank=1 or by “Based on the positive results from our phase III pivotal contacting Tiffany Crump at 484.595.8257 or study, we believe that Vimizim offers a substantial [email protected], or Daryll Heron at +44 1256 894572 benefit topatients with MPS IV A, a severely debilitating research news or [email protected]. and progressive disease for which there is no current Intracerebral Gene Therapy for MPS III A treatment,” said Hank Fuchs, MD, chief medical officer, BioMarin. BioMarin submitted a Marketing Lysogene announced May 13, 2013, that the U.S. Food Authorization Application to the European Medicines and Drug Administration granted orphan drug Agency for Vimizim on April 24, 2013. designation to its lead gene therapy product SAF-301 for the treatment of MPS III A. Lysogene’s 2014-2017 BioMarin announced Nov. 5, 2012, that the phase III development plan, including the clinical site(s) study of GALNS met the primary endpoint of change determination for the next clinical development, in the six-minute walk distance at 24 weeks and was currently is under preparation. statistically significant in patients dosed at 2 mg/kg every week, with a mean increase of 22.5 meters over placebo, A one-year, phase I/II gene therapy clinical trial for with continued improvement at weeks 36 and 48. MPS III A is being conducted at Hôpital Bicêtre - Assistance Publique des Hôpitaux de Paris. This is an On the secondary endpoint of three-minute stair climb, open-label, single-arm, monocentric, phase I/II clinical patients dosed with GALNS at 2 mg/kg every week study evaluating the tolerance and the safety of showed a trend toward improvement at 24 weeks of 1.1 intracerebral administration of adeno-associated viral additional stairs per minute over placebo. Preliminary vector serotype 10 carrying the human SGSH and analysis of a subset of patients in the extension study SUMF1 cDNAs for the treatment of MPS III A. The (MOR-005) who have reached the 36 week and 48 week treatment plan consists of a direct injection of the time points in the study also showed further improvement investigational medicinal product SAF-301 to both sides in the three-minute stair climb performance. of the brain through six image-guided tracks, with two In the other secondary endpoint, urinary keratin deposits per track, in a single neurosurgical session in sulfate (KS) levels, patients dosed with GALNS at four patients with MPS III A. 2 mg/kg every week showed consistent and robust The primary objective is to assess the tolerance and the reduction in urinary KS with a mean difference from safety associated to the proposed treatment through a baseline as compared to placebo of 40.7 percent. one-year follow up. The secondary objective is to collect Preliminary analysis of a subset of patients in the data to define exploratory tests that could become extension study who have reached the 36 and 48 week evaluation criteria for further clinical phase III efficacy time points in the study showed this level of reduction studies. was maintained.
Lysogene, the biotechnology company sponsoring the Pulmonary function, as defined by maximum voluntary clinical trial, announced June 14, 2012, that the last ventilation, showed a trend toward improvement from planned patient had been treated. baseline of 10.3 percent over placebo at 24 weeks in patients dosed with GALNS at 2 mg/kg every week. Primary Investigator Dr. Marc Tardieu, Hôpital Bicêtre Preliminary analysis of the subset of patients who - Assistance Publique des Hôpitaux de Paris Recruiting reached the 48 week time point showed a reduction in Le Kremlin Bicêtre, France, can be reached at +33 1 45 the improvement, though an increase over baseline was 21 32 23 or [email protected]. maintained. Pulmonary function, as defined by forced vital capacity, also showed improvement from baseline
continued >>
0081 courage v4_web.indd 34 6/12/13 5:29 PM >> of 3.3 percent over placebo at 24 weeks in patients who currently is professor and chairman emeritus, dosed with GALNS at 2 mg/kg every week. Preliminary Department of Biochemistry and Molecular Biology, analysis of the subset of patients who reached the 48 at St. Louis University School of Medicine. Dr. Sly week time point showed continued improvement. will collaborate with Ultragenyx on the MPS VII development program. GALNS was generally well-tolerated in the phase III 33
clinical trial and adverse events were similar to those “We are pleased to have the opportunity to develop this research news seem in clinical trials of other enzyme replacement treatment for MPS VII which has been in the research therapies. BioMarin plans to apply for marketing stage for a long time and has yet to be made available to authorizations starting in the first quarter of 2013. patients,” said Emil D. Kakkis, MD, PhD, chief executive officer of Ultragenyx. “We look forward to working in Additional information can be found at www. collaboration with Dr. Sly and the MPS community on bmrn.com and http://clinicaltrials.gov/ct2/show/ this program.” NCT00787995?term=MPS+IV&rank=1. Dr. Sly noted, “After so many years of research by my laboratory and my research colleagues, I am pleased to BioMarin currently is enrolling MPS IV A patients for finally have the chance to see if MPS VII patients can be a clinical trial who have limited ability to walk or are successfully treated with enzyme replacement therapy. wheelchair bound. The goal of the study is to see I have confidence in Ultragenyx’s ability to advance the MPS VII program through the development process whether treatment with rhGALNS (BMN-110) may and fulfill our shared goal of bringing this potentially help these patients in areas such as dexterity, self- life-changing therapy to patients. We look forward care, pain and mobility. Go to www.clinicaltrials.gov to working closely with the Ultragenyx team on this and type NCT01697319 into the search bar for more program.” information. On Feb. 28, 2012, Ultragenyx announced that the FDA office of Orphan Products Development granted orphan drug designation for UX003 for the treatment MPS VII of MPS VII. On March 28, 2012, Ultragenyx was On May 15, 2013, Ultragenyx Pharmaceutical Inc., granted orphan drug designation for MPS VII by the announced that the open label phase I/II clinical trial European Medicines Agency. for MPS VII (Sly syndrome) is planned to start this year at a single center in the United Kingdom. The study ML II/III will evaluate the safety, efficacy and dose of UX003 in There currently are no therapy clinical trials for approximately five MPS VII patients. The company ML II/III. anticipates that if the data from the phase I/II trial is positive, it would proceed with a pivotal trial with a novel design. Additional information is available on our website, including MPS VII information portal, physician survey, diagnostic lab survey and genetic counselors survey. Additional information also can be found at www.clinicaltrials.gov.
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 enzyme replacement therapy 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,
0081 courage v4_web.indd 35 6/12/13 5:29 PM Treatment Therapies MPS I Aldurazyme®, administered once-weekly, has been approved in the United 34 States and in 15 countries of the European Union for long-term enzyme replacement therapy (ERT) in patients with a confirmed diagnosis of MPS I, to treat the non-neurological manifestations of the disease. Aldurazyme was developed by BioMarin and Genzyme under a joint venture agreement that assigns commercial manufacturing responsibilities to BioMarin, and worldwide sales and marketing responsibilities to Genzyme.
Additional information can be obtained at www.aldurazyme.com or by contacting Genzyme at 800.745.4447. research news 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 MPSV I 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].
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.
0081 courage v4_web.indd 36 6/12/13 5:29 PM Shire Launches Report that Quantifies the Health, Psycho-social and Economic Impact of Rare Diseases New findings reveal the substantial burden of rare diseases due to lack of resources, financial challenges and emotional unrest 35 research news Shire’s Human Genetic Therapies “This Impact Report brings to light Rare Disease Impact Report (HGT) launched a Rare Disease the specific barriers to quality care Findings Impact Report in April, which that exist for patients with rare uncovers the health, psycho-social diseases; particularly the challenges Across the groups surveyed, and economic impact of rare in getting an accurate diagnosis, findings center around three diseases on patient and medical adequate information and ongoing overarching challenges: communities in the United States care,” said Nicole Boice, founder and There is a lack of resources and and United Kingdom. The report, CEO, Global Genes RARE Project, information to address these less developed in collaboration with a leading rare and genetic disease common illnesses. an external advisory board of patient advocacy organization. “I thought leaders in the medical, am thrilled that Shire engaged • Physicians (both primary care and advocacy, health policy and health Global Genes in this initiative and specialists) often don’t have the economics fields, is available at hope it will inspire the rare disease time, resources and information www.rarediseaseimpact.com. community to work together to to properly diagnose/manage According to more than 1,000 better meet the needs of rare patients with rare diseases, survey responses from a multi- disease patients and their families.” compared to more common stakeholder audience sample, the diseases. Rare diseases are conditions that Rare Disease Impact Report reveals: affect a small portion of the – The majority of physicians • It takes, on average, more than population but are often chronic, surveyed reported it is more seven years in the United States progressive, degenerative, life- difficult to address the needs and five years in the United threatening and disabling. While of a rare disease patient in a Kingdom for a patient with a rare individual rare diseases are typical office visit (92 percent disease to receive a proper uncommon and disparate, collectively in the United States, 88 percent diagnosis. there are approximately 7,000 in the United Kingdom) and different types of rare diseases and more office visits are required • On the journey to diagnosis, a disorders affecting an estimated to diagnose a rare disease patient typically visits up to eight 350 million people worldwide. patient (98 percent in the physicians (four primary care and Despite the progress that has been United States, 96 percent in four specialists) and receives two made over the past few decades to the United Kingdom). to three misdiagnoses. help improve the quality of life for – In addition, more than half of • Physicians (both primary care and patients managing these complex physicians stated there aren’t specialists) often don’t have the diseases, there are still significant enough opportunities to time, resources and information gaps in care and barriers facing the network with other physicians to properly diagnose/manage community at large. who treat rare diseases patients with rare diseases, “The findings from our Rare Disease (54 percent in the United compared to more common Impact Report are sobering,” said States, 62 percent in the diseases. Flemming Ornskov, MD, chief United Kingdom). • Due to the uncertainty, the lack of executive designate, Shire. “As a • From a patient and caregiver available information, resources leader in rare diseases, Shire hopes perspective, around half of those and economic strains, rare diseases this report will help drive forward a surveyed stated they received take a major emotional toll on collaborative effort with the patient conflicting information from patients and their caregivers. and medical communities to different healthcare professionals address the unmet needs identified.” about treatment options
continued >>
0081 courage v4_web.indd 37 6/12/13 5:29 PM >> (60 percent in the United States, to help determine the standards Data Collection 50 percent in the United of care for rare diseases (95 percent Kingdom). in the United States, 90 percent In January 2013, Shire HGT in the United Kingdom). conducted online surveys over a – In fact, more than half of four-week period among U.S. and 36 patients and caregivers stated • Although 90 percent of patients U.K. rare disease patients and their they needed to provide their surveyed reported they had health caregivers, physicians treating healthcare professionals with coverage in the United States: patients with rare diseases, payors information on their rare who handle reimbursements for – 55 percent of U.S. respondents disease (67 percent in the healthcare plans and government/ incurred direct medical United States, 62 percent in institutions, and thought leaders in expenses not covered by the United Kingdom). the rare disease space. Surveys were insurance compared to fielded through the market • As a result of these challenges, on 18 percent in the United research agency, ORC International, average, it takes 7.6 years in the Kingdom covered by the research news and also distributed by advocacy United States and 5.6 years in the National Health Service. group partners Global Genes and United Kingdom for a patient – 37 percent borrowed money the Genetic Alliance UK. with a rare disease to receive a from family and/or friends to proper diagnosis, based on survey The Rare Disease Impact Report pay for expenses in the United results. Along the way, the average Advisory Board States compared to only patient visits four primary care 21 percent in the United doctors, four specialists and An external advisory board Kingdom. receives two to three misdiagnoses. anchored by thought leaders in the medical, advocacy, health policy Due to the uncertainty, the lack of The economic impact of diagnosing and health economics fields lent available information, resources and managing rare diseases is their expertise to the development and economic strains, rare diseases significant. The journey to of the Impact Report. Advisory take a major emotional toll on diagnosis and beyond comes with board members include Nicole patients. a steep price tag for many coping Boice, founder and CEO, Global with a rare disease. The long road, • Patient respondents reported Genes RARE Project; Dr. Priya S. which frequently includes numerous several emotional difficulties Kishnani, division chief, Medical tests and physician visits, can managing their disease including Genetics, Duke University Medical become financially overwhelming, depression (75 percent in the Center; Tomas Philipson; Daniel particularly for those in the United United States, 69 percent in the Levin, professor of Public Policy States as compared to those in the United Kingdom), anxiety and Studies, The University of Chicago; United Kingdom. stress (86 percent in the United Alastair Kent, director, Genetic States, 82 percent in the United Alliance UK; Dr. Christian J. • Payor respondents reported Kingdom), isolation from Hendriksz, clinical lead, Adult several factors as contributing to friends/family (65 percent in the Inherited Metabolic Disorders, the higher costs of care for rare United States, 57 percent in the Salford Royal NHS Foundation disease patients, as compared to United Kingdom), and worry Trust; and Mike Drummond, more common diseases, including based on future outlook of professor of Health Economics, the need for more diagnostic tests disease (90 percent in the United University of York. (100 percent in the United States, States, 91 percent in the United 80 percent in the United Kingdom) Visit www.rarediseaseimpact.com Kingdom). and more costly diagnostic tests for more information and view the (100 percent in the United States, • For those rare disease patients full Impact Report. 90 percent in the United Kingdom). where treatment options are limited, overall they worry more, • Payors also found it difficult to feel more depressed, interact less make rare disease coverage and feel more isolated from decisions due to the lack of family and friends, compared to standards and guidelines. Almost patient with rare diseases where all payors surveyed indicated there are available treatments. there is less information available
0081 courage v4_web.indd 38 6/12/13 5:29 PM RESOURCES AND helpful information 37
Resources for Siblings http://siblingleadership.org
The mission of the Sibling Leadership Network is to provide siblings of National Siblings Day individuals with disabilities the information, support and tools to advocate is April 10 for their brothers and sisters and to promote the issues important to them and their entire families.
SibNet, the first and largest online community for adult brothers and sisters from around the world, is co-sponsored by the Sibling Support Project and the Sibling Leadership Network. Visit www.siblingsupport.org/connect/ the-sibnet-listserv for more information.
Brave Community Shire Offers News and insights on certain rare diseases Assistance Programs
For patients and caregivers Shire HGT provides co-pay • detailed disease overviews of Sanfilippo syndrome and Hunter syndrome assistance for eligible patients in the United States who have • customized news articles about living with rare genetic disorders commercial insurance. Shire • clinical trial process outline and how to search believes that the costs associated • links to advocacy and educational resources with rare disease treatments should not be a barrier to patient access. Information on Hunter syndrome and Gaucher disease is available at www.bravecommunity.com. Co-pay Assistance Program: The OnePath Co-pay Assistance Program offers co-pay assistance for certain patients who need National Family Caregivers Association assistance paying for out-of-pocket medication costs.
As a care provider, it is easy to become so focused on the one you are caring Patient Assistance Program: for that you forget to take care of yourself. The National Family Caregivers The OnePath Patient Assistance Association (NFCA) educates, supports and empowers individuals who care Program has been set up for for a loved one with an illness or disability. From tips and how-to guides, certain patients who currently are to a story bank and pen pal program, the NFCA caregiver resource center uninsured, or have insurance that provides a wealth of resources to support you as a caregiver. does not cover treatment. OnePath may be able to help patients get Sign-up to be part of the NFCA’s family caregiver community at access to treatment and find www.nfcacares.org/join_nfca/ind_mem.cfm. insurance that does cover their medication. Visit www.nfcacares.org/caregiving_resources for more information. For more information, visit www.onepath.com.
0081 courage v4_web.indd 39 6/12/13 5:29 PM MPS I Website MPS Awareness Cards www.MPSIdisease.com MPS Awareness Cards are a quick and easy way to explain to people in your A website has been developed community about MPS and raise awareness about our diseases. A packet of by Genzyme to provide parents 20 cards can be purchased for $3 each, which includes shipping and handling. 38 and patients with information For more information, visit our website and click “Logo” at the top, or call and resources on MPS I. This site 919.806.0101. 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, resources and helpful information your physician can access your data and compare it to aggregate data The 411 on Disability Disclosure: from around the world. Ask your A Workbook for Youth with Disabilities physician to call 1.800.745.4447 ext. The 411 on Disability Disclosure: 17021 for more information. A Workbook for Youth with Disabilities is designed for youth and adults Aldurazyme® working with them to learn about disability disclosure. This workbook helps Website young people make informed decisions about whether or not to disclose their disability and understand how the decision may impact their education, www.Aldurazyme.com employment and social lives. Based on the premise that disclosure is a A website has been developed very personal decision, the workbook helps young people think about and by Genzyme to provide parents practice disclosing their disability. and patients with information on Aldurazyme. The site includes a The workbook can be downloaded in several formats at link to ask questions regarding www.ncwd-youth.info/411-on-disability-disclosure. MPS I or anything else related to treatment. Feel free to use this mechanism to reach a healthcare Guide for Understanding the New Healthcare professional at Genzyme who will Law Available respond to your query in a timely manner. Visit www.Aldurazyme.com. 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.
0081 courage v4_web.indd 40 6/12/13 5:29 PM 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. 39 For more information, check out these transition resources: resources and helpful information • 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).
Furniture for Little People MPS IV Websites www.morquiosity.com offers a little people, BIG DESIGN is designer furniture for short people, and variety of information for MPS IV people with dwarfism or short stature. Created by Tracy Steele Designs, patients, including, a description of this furniture meets the ergonomic challenges of little people without the disease, cause, early signs and sacrificing good design. symptoms, management, and tests and diagnosis. little people, BIG DESIGN furniture features: • short seat depth and straight backs to help support the back and neck www.morquioanswers.com • low seat height so legs rest comfortably on the ground is a resource for healthcare professionals providing information • high arms to rest on while reading on pathology, systemic effects, • solidly built to support the weight of adults natural history, management, and • steps for easy accessibility resources and publications. • adjustable for the height of guests
For more information, visit www.lpbigdesign.com. MPS IV Registry www.morquio.com Information about MPS IV can be found at www.morquio.com. MPS II Website Also available at this website is www.hunterpatients.com the Morquio registry where adults with MPS IV can register and This site is a resource center providing information about the genetics, families can register their child diagnosis and management of MPS II, as well as information about the drug with MPS IV. Once registered, it development process. It also provides a comprehensive overview of MPS II, is recommended that updates be including resources for patients and healthcare professionals, information made at least yearly. This natural on clinical trials and a patient outcomes survey, as well as the ability to stay history information is critical for informed as new information about MPS II becomes available on the site. development of treatments for MPS IV, providing evidence of drug In addition, www.hunterpatients.com is an exclusive forum for primary effectiveness and supporting the caregivers of children with MPS II to connect and share their personal approval of the drug. stories and experiences, as well as give and receive tips for facing everyday challenges. This online community aims to strengthen the network of Hunter parents, and 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 life- altering 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.
0081 courage v4_web.indd 41 6/12/13 5:29 PM MPS VI Website Genzyme Co-pay Assistance Program for www.MPSVI.com Enzyme Replacement Therapies BioMarin’s website, www.MPSVI.com, is designed For more than 20 years, Genzyme has provided personalized support and 40 especially for individuals with assistance to the genetic disease community. As a part of its commitment to MPS VI (Maroteaux-Lamy ensure access to treatment, it has expanded its support programs to include syndrome), their families, and the Genzyme Co-Pay Assistance Program for enzyme replacement therapies. for healthcare professionals who Individuals in the United States who are enrolled in the 2012 Genzyme care for patients with MPS VI. Co-Pay Assistance Program will receive assistance for their eligible drug This site provides education and related out-of-pocket expenses such as co-pays, co-insurance and deductibles. information about MPS VI which In order to provide support to as many people as possible, the Genzyme may be helpful to share with Co-Pay Assistance Program is open to eligible U.S. citizens or legal residents family members, educators and who have primary commercial insurance and are prescribed treatment with healthcare providers. one of Genzyme’s enzyme replacement therapies regardless of financial status.
In accordance with the law, the Genzyme Co-Pay Assistance Program is not MPS VI Community available to individuals who are residents of Massachusetts or have coverage Website for prescriptions paid for in part or full under any state or federally funded www.MPSVI.net healthcare program including Medicare and Medicaid. If you are not Log into the first website devoted eligible for the program, do not wish to participate, or need help with out- entirely to the MPS VI community of-pocket expenses that are not covered by the program, call your Genzyme and: case manager who can review coverage options and refer you to other • Meet other people with MPS VI financial assistance programs that are available.
resources and helpful information • Tell your story • Chat in real time Genzyme Case Managers are available to help answer any insurance related • Search postings by topic questions, including questions about the Co-Pay Assistance Program Register for free to connect with and eligibility criteria. Call your Genzyme case manager directly or call your MPS VI community. 800.745.4447, Option 3.
www.mpsforum.com Hearing Aid Funding Assistance In 2000 the MPS/ML Forum opened its doors to parents who The primary focus of international service organization Sertoma is on have made lifelong friendships. assisting the more than 50 million people with hearing health issues Eleven years later the forum is and educating the public on the issues surrounding hearing health. The still providing ways for families to organization offers a hearing aid recycling program, a college scholarship connect. If you’ve never been to program for young adults with hearing loss, as well as various community the forum, please drop in and meet support programs. For more information, visit www.sertoma.org. everyone. If you haven’t been for awhile, come back home. We miss Hear Now is a national non-profit program sponsored by The Starkey hearing from you! Hearing Foundation that provides hearing aids for people with limited income. Visit www.starkeyhearingfoundation.org for more information.
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.
0081 courage v4_web.indd 42 6/12/13 5:29 PM donations 41
Dr. Robert Marnoy Walter Hecht in memory of… Mel and Millie Anhalt in honor of… Mel and Millie Anhalt Conner Anhalt’s birthday Alerico Allen Michael McGuinness Bella and Willow Hoff Jonathan and Marie Hunt Cynthia and Randy Anhalt George Burns Liberty Diversified International Loretta Cordova de Ortega Mel and Millie Anhalt Rosemarie Buzzeo Julie Barenblat Michelle Hopkins Bill King Kristofer Arnold Helen Allison Sherrie and Tony Roman Jason and Diane King Jamie Anhalt’s birthday Patrick King Cynthia and Randy Anhalt Beth Karas Steven Barnett Jamie McGuinniss Julie Barenblat Sara Kardashian D.P. and P.J. Adcock Tara and Jack Elston George McLeod Dr. and Mrs. Mel Anthalt Nancy Landa’s birthday Russel and Rebecca Francois Jim and June Murphy Schlesinger Family Philanthropic Fund Mel and Millie Anhalt E. Kay Thames Daniel Molinaro Dr. Mel Anhalt’s birthday Mr. Maruyama David and Nora Zaring Daniel Molinaro Foundation* Jay and Gerry Karkowsky Herbert Tilsner Sally and Charles Roberts* Nathan Bivens Violet Nettleton Caroline Masur James and Janice Coffey Earl and Shirley Vitus Dani Boni Mel and Millie Anhalt Hubert Morrow Chris Meyerpeter* Mount Vernon Baptist Church Adam Rattman Waverly and Oliver McNeil John and Charlotte Wilson Sue Rattman* Bryce Chesser Matthew and Shannon McNeil Jim and Kathy Ward* Matthew Caldwell Stephen Reed Riley Muller Robert and Marjorie Austin Lynn Bell Elizabeth DeFazio Rob and Sharon Muller Hubert Brasseaux Jeff and Caroline Lewandowski Matthew Cassil Roger and Mary Demeny Austin Noll Rob and Diane Cassil Cara Hillyard Anne Gentry-Smith Bobby Deutser Mel and Millie Anhalt Austin and Cheryl Noll* Eric Donovan Conner Jim and Nora Inglish Jeff and Julia Conner Kristin Miller Jerry Deutser’s birthday Kassandra Offenbacker Robert and Patricia Reed Mel and Millie Anhalt Constance Offenbacker Kelley Crompton Stephen Reed’s family Katherine Getchell Arnold Snygg Ben Durcholz Adam and Benjamin Podesky Larry and Jennifer Latham* Paul and Susan Gauthier* Barbara Erickson Patricia Roberta Lauri and Lou Loibl William and Peggy Cook Ben Durcholz and in memory Janice Poplack and Michael of Zach Durcholz Epstein’s anniversary Judith Eva Earl Ruebeck Kent and Nina Peter* Mel and Millie Anhalt Jim and June Murphy Charles Stump Michael Epstein’s Sally Roberts’ birthday Petey Feibelman Donna Stump 75th birthday Mel and Millie Anhalt Phyllis Feibelman* Clinton Szemanski Mel and Millie Anhalt John Thornton Gabriela Giannone Gail Finney Jack Fowler Richard and Sue Cadena Cathryn Cavanagh and Peter Coppola* Zachary Wahl Janice Peterson* Christy Little Gayla Kraetsch Hartsough Jack Todd Rosemary Hall Denny Henkel Debbie Greenbaum Eugene and Francis Goldfarb* Mel and Millie Anhalt Leonard and Linda Terrien Issaquah Swedish Cancer Institute Ethan Waddell Nancy Knudsen Kevin Keith Dr. and Mrs. Mark Beverly Waddell* Jean Lystad Greenberg’s anniversary Paul and Nga Keith* Michael Whitaker-Russell Kari Olson Mel and Millie Anhalt Allison Kirch Craig and Elizabeth Petre Monique Whitaker Judy Grundfest’s Jay and Judy Hoeschler Chuck and Diane Preas Scotty Whitecotton Rick and Beth Kania* George and Athena Sarantinos birthday Lennie Forkas Sissi Langford April Turkington Mel and Millie Anhalt Deborah and Donnie King* Ron and Linda Speltz Brick and Kim Wahl Karina Guajardo Mila and Nicola Kraig Klenke Megan Weisenbach Luis and Angela Guajardo Laura Stankard Douglas, Lori and Katie Dunbar* Helping Hands Ministries Karina Guajardo’s 21st birthday Lucille Fernandez
*Annual Fund donor continued >>
0081 courage v4_web.indd 43 6/12/13 5:29 PM >> Roslynn and Timothy Garvin fundraisers Dennis and Chris Goggins matching gifts Abbott Laboratories Fund Matching NEW MEMBERS A Wish For Evan Sheryl and Gerald Hall Gifts Program Charity Dinner Wallis and Monica Hampton* AIG Matching Gifts Program Silvia Aquino held by Kristi and John Abel in Mark and Darlene Hesprich Allstate Giving Campaign MA, mother of Brian Aquino, MPS II honor of Evan Abel Chris and Melissa Hogan Hewlett-Packard 42 Tom and Jackie Holt Laura Brown Charles Schwab Annual IBM Employee Charitable James and Saundra Huff OR, mother of Jacob, Lucas and Charity Week Contribution Jennifer Hutcheson Timothy Brown, MPS I hosted by Diane Russell, senior vice Campaign Innogive Foundation president Johnson & Johnson Kevin and Carmen Byrd W. Andrew and Lauran G. Jack Microsoft Matching Gifts Program AL, parents of Sabrina Byrd, MPS IV A Jeans Friday James and Mary Kalteux Thomson Reuters hosted by Logan County Bank in John and Janet Kappel Cara David honor of the Sowden family Ardis and Henry Ketterer AZ, mother of Coleson David, MPS I donations Kroger Dress Down Day Brad, Jeni, Eddie and Makena Jeff and Anne Denneen held in memory of Kenton Fults Kimminau GA, parents of Liam Denneen, MPS II Earl and Doris Klenke Post Office Café Great Mark and Marie Frost Joel and Lisa Klessens Case Race NY, aunt and uncle of Sarah Mallia, MPS III A Fred and Joyce Koehler held by Post Office Café in honor Brian Krase* Tricia and Andy Gates of Casey Lessing and in memory of John and Joyce Lane ND, parents of Brea Gates, MPS III A Mark Lessing Jr. Donna Kay Langan Michele and David Hoffman Rosenberg Bat Mitzvah Robert and Katie Lawson WV, aunt and uncle of Hunter Beam, MPS II bake sale Joan and Mark Lessing hosted by Alli Rosenberg in honor Kathryn and Hai Lieu Lynda Jondle of Julia Dophiede Lynn Lilore* IA, grandmother of Teagan Paige Pevler, MPS I Gene and Cynthia Logan* Jamie Joy Kelley donations Barbara Lyons WA, parent of Iverie Kelley, MPS II Dorothy Mask Mary Starr Adams Terri Kenney Pat McCann George and Gail Anderson MD, aunt of Jordan Brandenburger, MPS VI Angel’s Hands Foundation Cathie McCloskey Cynthia and Randy Anhalt Stephen and Marie McClurg Michael and Karen Lewandowski Artisan Home Resorts William and Karen McNeil NY, grandparents of Michael Lewandowski, Emma Ayres Rene and Patricia M’Sadoques MPS II Wayne and Catherine Bardsley Michael and Anita Muonio Taylor and Jason Lindsey James and Beulah Bennett National Christian Foundation PA, parents of Gavin John Lindsey, MPS VI Lorraine and Frank Bien Karen O’Malley Jean Bienaime and Jennifer Kano Eileen and Larry O’Steen Rachel Lodewyk CA, mother of Oliver Lodewyk, MPS IV A Katherine and Joe Bonville John Pagliero Daniel and Debra Brockman Thomas and Vickie Patterson Nicole and Thomas Mount John and Judie Brooks Beth A. Pletcher CA, parents of Curtis Mount, MPS I Cindy and Bill Plunkett Curt and Lou Ann Brooks* Duncan and Laura Nicol Precision Excavation Nancy Bucher FL, parents of Sierra Brown, MPS IV A Rob and Diane Cassil Barbara Pryor Heidi and Keith Caswell Sam and Nancy Ramsey James and Mary Beth Olson Kathleen Christopher Sue Rattman NY, grandparents of Michael Lewandowski, Stephen and Denise Clayton Bonnie and Ralph Rennaker MPS II Comcast A.L. and Angela Sarantinos Karen O’Malley Bob and Laura Cowin Sue and John Scott* KS, grandmother of Parker Polite, MPS III C Billi and Jeremy Crockett Mike and Barbara Smith Diane Dalton Thomson Reuters Jaron and Vanesa Packer ID, parents of Jacob, MPS VI Eric and Sheila Devolder Dave and Hiromi Tilsner Henry and Barbara DeVries* David and An Tootill* Mark Stark Bonnie and William Doster Constance Trivette CA, father of Robert Stark, Alpha Mannosidosis USA Couriers Carrie Dunn and Melissa Kraus Kim Stephens Michael and Veronica Vacca Tara and Jack Elston TN, mother of Cole Mausolf, MPS II Michael Farmer Sent and Mary Visser Janet Forde Claude and Roselyn Wells Becky Waibel Betsy and Steve Fowler Sharla Schipper and Roger Wyngarden OK, mother of Talon Waibel, MPS I Jamie and Jason Fowler Tammie Wallace NC, mother of Sean Wallace, MPS I Maureen Williams MD, mother of Seamus and Leo Williams, MPS III *Annual Fund donor
0081 courage v4_web.indd 44 6/12/13 5:29 PM upcoming events 43
National MPS Society 2013 Family Conference
The 27th Annual National MPS Society Family Conference will be held Oct. 24–26, 2013, in San Antonio, TX. The Omni San Antonio Hotel at the Colonnade is alive with the spirit of Texas. This four-diamond, luxury hotel captures the essence of the city with impeccable service and charm. Overlooking the rolling Texas Hill Country, this 19-story high-rise is close to the area’s most exciting sites and attractions such as the historic Alamo, Sea World San Antonio and the enchanting Riverwalk. Saturday has been reserved for families to enjoy Morgan’s Wonderland, the world’s first ultra-accessible family fun park designed with special-needs individuals in mind and built to be enjoyed by everyone. Transportation to the famous San Antonio Riverwalk will be provided as an alternative to Morgan’s Wonderland. Save the date to attend this conference which promises to offer all the updates on research, medical care and topics that you’ve requested.
New this year—online conference registration! Go to www.etouches.com/mpsfamilyconference and register using a credit card. Conference registration has never been easier—no more paper forms to submit!
national mps society membership form
b $50 Family your name b $80 Foreign b $75 Professionals affected individual’s name date of birth Corporate Memberships Available
diagnosis relationship Would you like your name to appear in our online directory? b Yes b No
address Would you like to receive Courage, the Society’s newsletter? b Yes b No city / state / zip Would you like our publications in b electronic (e-mailed) format or phone b hardcopy (mailed) format
primary e-mail secondary 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.
0081 courage v4_web.indd 45 6/12/13 5:29 PM Mucopolysaccharidoses (MPS) and related diseases are genetic lysosomal storage diseases caused by the body’s inability to produce specific enzymes. 44 classifications
Syndrome Syndrome Normally, the body uses enzymes to break down and recycle materials MPS I MPS IV A in cells. In individuals with MPS Eponym Eponym Hurler, Scheie, Hurler-Scheie Morquio A and related diseases, the missing Enzyme Deficiency Enzyme Deficiency or insufficient enzyme prevents a-L-Iduronidase Galactose 6-sulfatase the proper recycling process, resulting in the storage of materials Syndrome Syndrome in virtually every cell of the body. MPS II MPS IV B As a result, cells do not perform Eponym Eponym properly and may cause progressive Hunter Morquio B damage throughout the body, Enzyme Deficiency Enzyme Deficiency including the heart, bones, joints, Iduronate sulfatase b Galactosidase respiratory system and central nervous system. While the disease Syndrome Syndrome may not be apparent at birth, signs MPS III A MPS VI and symptoms develop with age as Eponym Eponym more cells become damaged by the Sanfilippo A Maroteaux-Lamy accumulation of cell materials. r Enzyme Deficiency Enzyme Deficiency Heparan N-sulfatase N-Acetylgalactosamine 4-sulfatase (arylsulfatase B) Syndrome MPS III B Syndrome Eponym MPS VII Sanfilippo B Eponym Enzyme Deficiency Sly a-N-Acetylglucosaminidase Enzyme Deficiency b-Glucuronidase Syndrome MPS III C Syndrome Eponym MPS IX Sanfilippo C Enzyme Deficiency Enzyme Deficiency Hyaluronidase Acetyl CoA: a-glycosaminide acetyltransferase Syndrome
Syndrome ML II/III Eponym MPS III D I-Cell, Pseudo-Hurler polydystrophy Eponym Enzyme Deficiency Sanfilippo D N-acetylglucosamine-1- Enzyme Deficiency phosphotransferase N-Acetylglucosamine 6-sulfatase
0081 courage v4_web.indd 46 6/12/13 5:29 PM BOARD OF directors
Steve Holland, president Kristine Klenke STAFF Amy Holland 7604 Sherry Creek Road 1752 Hilltop Circle Worden, IL 62097 executive director Fort Worth, TX 76114 618.888.2204 Barbara Wedehase 817.625.6999 [email protected] [email protected] [email protected] MPS II parent development director [email protected] MPS I H-S parents Austin Noll Terri Klein 3735 Redwood Circle [email protected]
Stephanie Bozarth, vice president Palo Alto, CA 94306 program director 6203 Larstan Drive 650.521.0089 Laurie Turner Alexandria, VA 22312 [email protected] [email protected] 703.256.1980 MPS III parent [email protected] administrative assistant MPS IV parent MaryEllen Pendleton Kelly Rose 56 E. Vinedo Lane [email protected] Tom Gniazdowski, treasurer Tempe, AZ 85284 bookkeeper Anne Gniazdowski 480.831.2157 Angela Guajardo 315 Meadowview Court [email protected] [email protected] Springboro, OH 45066 MPS III aunt 937.748.8809 [email protected] Lisa Todd SCIENTIFIC [email protected] 11111 Jordan NE MPS II parents Albuquerque, NM 87122 ADVISORY BOARD 505.797.3603 Kim Whitecotton, secretary [email protected] Alessandra D’Azzo, Ph.D. 1413 Emigrant Way MPS II parent Lorne A. Clarke, M.D. Modesto, CA 95358 Robert Desnick, M.D., Ph.D. 209.544.2708 Gordon Wingate Patti Dickson, M.D. 16319 Jordyn Lake [email protected] Matthew Ellinwood, D.V.M., Ph.D. Tomball, TX 77377 MPS II parent Mark Haskins, Ph.D., V.M.D. 832.498.1724 John Hopwood, Ph.D. Jeff Bardsley [email protected] William G. Mackenzie, M.D. 1209 Daviswood Drive MPS III parent McLean, VA 22102 Joseph Muenzer, M.D., Ph.D. 703.547.7087 Roy Zeighami Elizabeth Neufeld, Ph.D. [email protected] 6420 Diamond Drive Beth A. Pletcher, M.D. MPS II adult McKinney, TX 75070 Kathy Ponder, M.D. 972.965.5253 Mark Sands, Ph.D. Dawn Checrallah [email protected] Edward Schuchman, Ph.D. 58 Leroy Drive MPS III parent Calogera Simonaro, Ph.D. Riverside, RI 02915 William Sly, M.D. 401.639.2689 President Emerita Charles H. Vite, D.V.M., Ph.D. [email protected] Marie Capobianco Steven Walkley, D.V.M., Ph.D. MPS I parent Ernie Dummann Steve Holland David Wenger, Ph.D. Carrie Dunn Mary Majure Couture Chester Whitley, M.D., Ph.D. 920 Edgemoor Road Linda K. Shine John H. Wolfe, V.M.D., Ph.D. Cherry Hill, NJ 08034 856.795.4528 [email protected] MPS II parent
0081 courage v4_web.indd 47 6/12/13 5:29 PM NON-PROFIT ORG. National MPS Society U.S. POSTAGE PO Box 14686 PAID Durham, NC 27709-4686 CHAPEL HILL, NC PERMIT #74
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