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EMPOWERING FAMILIES WITH INFORMATION AND INSPIRATION from

to pharmacy How scientists develop safe and effective labdrugs to treat TAKE TO THE SKIES neuromuscular diseases How MDA advocates for accessible air travel THE NEW BLACK Adaptive fashion goes mainstream ADVERTISEMENT Biogen discovers, develops, and delivers therapies for the treatment of neurodegenerative and rare diseases.

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About the Muscular Dystrophy Association Generous Partners MDA is committed to transforming the lives of people affected by Help Us Reach Our Goal muscular dystrophy, ALS and related neuromuscular diseases DA’s mission is to transform the lives of through innovations in science people affected by muscular dystrophy, ALS and and innovations in care. Since our related neuromuscular diseases through inno- inception, MDA has committed M vations in science and innovations in care. It’s an ambitious more than $1 billion to accelerate goal, and one we couldn’t possibly aspire to without the the discovery of therapies and cures. MDA supports the largest commitment and generosity of our partners. network of multidisciplinary clinics MDA has been proud to team up with leading corpo- providing best-in-class care at rations, organizations and brands who generate tens of more than 150 of the nation’s top millions of dollars each year through integrated cause medical institutions and serves the marketing campaigns, community outreach initiatives, community through MDA Summer Camp; the Resource Center; and employee engagement programs, patient and provider educational conferences, events educational programs, and year-round special events. With and materials for families and their support, not only is MDA accelerating the development of therapies and cures, but health care providers. also providing much needed programs and services that enrich the lives of people with neuromuscular disease. For advertising opportunities: Patty MacEwan We are especially grateful to our largest partners: > Publix National Director of Corporate > IAFF > Applebee’s Partnerships > CITGO Petroleum Corp. > C.N. Brown Company [email protected] > Harley-Davidson > DECA For editorial queries: > Acosta > ERA Real Estate [email protected] > Albertsons Companies > Fareway Meat & Grocery To update personal information and your > Casey’s General Store > Fishing for MD Quest subscription status, contact the > Circle K > RelaDyne MDA Resource Center at 833-ASK-MDA1 . > Dutch Bros > Shaw’s/Star Market

Published quarterly by > Kroger > United Refining Company Muscular Dystrophy Association 161 N. Clark St., Suite 3550 > National Association of Letter Carriers > Wendy’s Chicago, IL 60601 | (800) 572-1717 > Sailormen/Popeyes email: [email protected] Available on the internet at mda.org/quest > Petroleum Marketing Group Thank you, too, to our pharmaceutical ISSN 1087-1578 Postage paid at Bolingbrook, IL > 7-Eleven industry partners: Nonprofit postal permit number 1446. > Andeavor > Biogen

Postmaster: Treat as Standard A Mail Only > Bojangles’ > Sanofi-Genzyme © 2018, Muscular Dystrophy Association. All rights > Burger King > AveXis reserved. MDA and QUEST are registered trademarks of the Muscular Dystrophy Association. > Harris Teeter > Mitsubishi Tanabe Pharma America The acceptance of advertising in this magazine does not constitute or imply endorsement by MDA of any > Jiffy Lube > PTC Therapeutics product or service. MDA accepts no responsibility for any claims made in any advertisement. Quest reserves > Mansfield > Santhera Pharmaceuticals the right to refuse to accept any advertisement. For advertising information, call (703) 582-8476. > Price Chopper > Sarepta Therapeutics Information contained in Quest may not be reproduced, published, transmitted or distributed in whole or in part without prior written consent of MDA. Always consult your professional advisers as to how medical, legal or financial information in Quest pertains to you. MDA assumes no liability for any information With gratitude from the whole MDA team, in Quest.

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Adam Cotumaccio EVP, Chief Impact and Philanthropy Officer GLCDELIVERS.COM Quest MDA.ORG/QUEST 1 20

fall 2018 CONTENTS

pg 14 DEPARTMENTS FEATURES Cody pg 50 Schoppe 04 16 SHARING OUR OPENING DOORS STRENGTH Family caregivers find new MDA knows the power life paths. of working together.

06 22 NOV. 27 is PROGRESS NOW HOW DRUGS ARE Read the latest news on DEVELOPED medical research, scientific It takes a lot of time and Join in this global day effort for a new drug to advances and clinical trials. of giving and help MDA get to the pharmacy shelf. 38  make 2018 our biggest ACCESS MDA 14 Team Momentum Giving Tuesday ever. THRIVE 365 memorable moments, 28 Scholarships help lessen You can participate by fundraising tips and more. TAKE TO THE SKIES the financial load of higher Access to air travel should giving your time or a education. not be denied based on donation on Nov. 27, physical ability. 50 then tell your family, FROM WHERE I SIT A young woman finds friends and community her happy place in the about it using alternative music scene. #GivingTuesday. 34 To make a donation to 52 ADAPTIVE IS THE MDA, visit mda.org/ LASTING IMPRESSION NEW BLACK donate, or call us at A father and son celebrate People living with a milestone with Harley- disabilities have a passion 800-572-1717.

Davidson. for fashion. MDA-025

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At MDA, we take a big-picture perspective across the full spectrum of neuromuscular diseases to uncover Proud breakthroughs that accelerate treatments and cures. That’s a big job, and we know we can’t do Partners it alone. Often, we combine strengths with other organizations with common goals. Here, remarks on athe Strongly blog (strongly.mda.org) and elsewhere illustrate the power of working together.

In September, Earlier this year, MDA partnered with DMD MDA joined

THE DIAGNOSIS AND MANAGEMENT OF DUCHENNE MUSCULAR DYSTROPHY patient advocacy groups, including TREAT- with the A GUIDE FOR FAMILIES NMD, the World Duchenne Organization and Charcot- Parent Project Muscular Dystrophy, to produce Marie-Tooth the new Duchenne Guide for Families. This Association guide serves as a roadmap to new medical and the care considerations for DMD families. Robin Hereditary Geiger, vice president of MDA Care and Neuropathy Foundation Clinical Services, wrote this on the Strongly blog: to host a patient-focused drug development meeting for “ M y strongest drive within the organization is to provide CMT. Lucas Kempf, M.D., acting the most efficient and standardized processes, creating associate director of the U.S. health equity for patients. And along the way, I hope to Food and Drug Administration’s improve quality of life for families and caregivers.” Rare Disease Program, made these closing remarks: MDA in the Lab “ There are 2.6 million people MDA partners with researchers and organizations around the world by worldwide [with CMT], so the funding cutting-edge research aimed at finding treatments and cures for impact of the 300 people here neuromuscular diseases. Turn to page 6 to learn about our latest grants, will have a huge effect across or visit our Grants at a Glance page at mda.org/gaag. the entire world.”

MDA is teaming up with Answer ALS, a nationwide consortium assembling a comprehensive clinical, genetic, molecular and biochemical assessment of amyotrophic lateral sclerosis (ALS). Through the partnership, Answer ALS will build a dataset of disease measures and develop new approaches to analyzing the massive amount of data, which will be shared openly with the global research community. Amanda Haidet-Phillips, Ph.D., MDA scientific portfolio director, said this on the Strongly blog: “ Mining this rich, complex dataset with the goal of identifying ALS disease subtypes requires sophisticated computational tools. The project investigators will develop a series of tools to specifically interrogate and interpret the combined Answer ALS datasets, leading to an improved understanding of ALS.”

Quest 4 FALL 2018 ADVERTISEMENT Know the Pompe Spectrum

Pompe disease presents as a spectrum of symptoms and variable rates of disease progression. Symptoms Pompe disease presents as a spectrum of symptoms and variable rates of disease progression. Symptoms vary from person to person and may begin at birth all the way to adulthood. Many signs and symptoms overlap vary from person to person and may begin at birth all the way to adulthood. Many signs and symptoms overlap with other disorders as seen in the table below. with other disorders as seen in the table below.

SHARED SIGNS AND SYMPTOMS WITH POMPE DISEASE

ABNORMAL GAIT DISEASE MUSCLE ABNORMAL GAIT RESPIRATORY DIFFICULTY EXERCISE DISEASE MUSCLE OR DIFFICULTY ELEVATED CK* RESPIRATORY DIFFICULTY EXERCISE PREVALENCE WEAKNESS OR DIFFICULTY ELEVATED CK* INSUFFICIENCY SWALLOWING INTOLERANCE PREVALENCE WEAKNESS WALKING INSUFFICIENCY SWALLOWING INTOLERANCE WALKING

Myopathy, General Myopathy, General

Duchenne MD

1.7Duchenne – 8.2 per MD 100,000 1.7 – 8.2 per 100,000

Limb-Girdle MD Limb-Girdle MD 0.8 – 6.9 per 100,000 0.8 – 6.9 per 100,000

Myasthenia Gravis Myasthenia Gravis 20 per 100,000 20 per 100,000 Inflammatory MyopathyInflammatory 14Myopathy – 25 per 100,000 14 – 25 per 100,000 Polymyositis 2.7Polymyositis – 70 per 100,000 2.7 – 70 per 100,000

Pompe disease 2.5Pompe per disease100,000 2.5 per 100,000 Testing for Pompe Disease (Acid Maltase Deficiency) is available through a number of laboratories. If you Testing for Pompe Disease (Acid Maltase Deficiency) is available through a number of laboratories. If you suspect Pompe Disease talk to your doctor about testing options available to you. suspect Pompe Disease talk to your doctor about testing options available to you.

*CK = Creatine Kinase (a marker of potential muscle damage) *CK = Creatine Kinase (a marker of potential muscle damage)

SAUS.PD.18.08.5029 SAUS.PD.18.08.5029 progress now Tracking research updates and breakthroughs that help accelerate treatments and cures across MDA diseases

Each of MDA’s 34 new grants will impact neuromuscular disease research in different ways — from better understanding the underlying mechanisms of a particular disease to uncovering therapeutic targets to building clinical research network infrastructures that will expedite clinical trials.

MDA Research in Action

MDA Awards 34 New Research Grants Research projects seek to further our understanding of neuromuscular diseases and aid the development of treatments

In August, MDA announced the dystrophy (FSHD) and limb- to investigators at the begin- neuromuscular research. award of 34 new grants totaling girdle muscular dystrophy ning of their careers and who The Summer 2018 grant $9.9 million for the Summer 2018 (LGMD), respectively. Addition- are on the brink of becoming cycle builds upon decades of grant cycle. These new grants ally, a research infrastructure independent investigators; one MDA-backed research that has represent our continued commit- grant was awarded to fund the clinical trial travel grant to help led to several FDA-approved ment to funding groundbreaking development of computational alleviate the financial burden treatments and a clinical pipe- research that will one day lead tools that can integrate and on individuals and families line of therapies more robust to treatments and cures for the analyze complex amyotrophic traveling to participate in clin- than ever before, in addition diseases in our program. lateral sclerosis (ALS) data sets. ical research; and one clinical to providing funding for novel Of note in this latest round This round of funding also research training scholarship discovery research. of funding are two grants includes 24 research grants to a physician in the early awarded to set up clinical awarded to established, stage of his or her medical Read more about these research networks for facio- independent investigators; five career who is interested in exciting new grants at scapulohumeral muscular development grants awarded pursuing a career in clinical strongly.mda.org.

Quest 6 FALL 2018 Amyotrophic lateral sclerosis (ALS) REFALS Analyzing ALS Data MDA and Answer ALS team up to enhance ALS Study understanding of disease mechanisms Researchers will assess effects of MDA has awarded a research infrastructure grant totaling levosimendan on $550,000 to Jeffrey Rothstein, M.D., Ph.D., at Robert Packard Center for ALS Research, Johns Hopkins University School of respiratory function Medicine. Answer ALS is a nationwide consortium assembling Researchers at Orion Pharma are looking for people with ALS one of the most comprehensive clinical, genetic, molecular and to participate in REFALS, a phase 3 study designed to assess biochemical assessments of ALS to date. the effects of oral levosimendan (ODM-109) on respiratory The Answer ALS and MDA partnership will develop a series function in individuals with ALS. of computational tools, known as probabilistic graphical models Study participants will be randomized to receive either (PGMs), that can integrate and analyze complex ALS disease net- levosimendan or placebo, and total study duration for each works, identifying and quantifying changes in cellular pathways. patient will be approximately 48 weeks. At eight required clinic Through the Answer ALS program, 1,000 ALS patients across visits, participants will undergo tests to assess respiratory func- the United States will be monitored for one year. Disease measures tion. Patient function will be evaluated using the ALS Functional such as breathing function and muscle strength will be captured at Rating Scale Revised (ALSFRS-R). clinic visits, but participants will also use an app that Participants taking riluzole and/or edaravone may qualify will allow them to track disease progression at home. for enrollment, but the dose must be stable at least four weeks Biospecimens such as blood and cerebrospinal prior to the screening visit, and treatment may not be changed fluid will also be collected, allowing for analysis of or started during the study. DNA, RNA, protein and cellular pathways, as well as To be eligible to participate, individuals must have an ALS for generation of stem cell lines from ALS patients diagnosis, and 12 to 48 months must have passed since symptom used to model “disease in a dish.” onset. In addition, participants must: The comprehensive Answer ALS dataset will > Be able to obtain a full electromyogram (EMG) report generate more than 20 trillion datapoints, and Jeffrey Rothstein, consistent with ALS MDA’s grant will fund the development of new M.D., Ph.D. > Be able to swallow treatment capsules throughout the data analytics approaches to support the integration and analysis duration of the study of this massive amount of data, which will be shared openly with > Meet defined respiratory and additional study criteria the global research community. Throughout the study, participants will continue to see their The overarching goal of the program is to better understand regular doctor for routine care. and ultimately end ALS.

To learn more about this study, visit clinicaltrials.gov and Read more about this exciting new project at enter NCT03505021 in the “Other Terms” search box. strongly.mda.org. Charcot-Marie-Tooth disease (CMT) MDA Grant Boosts CMT Biomarker Development $1 million investment aims to speed CMT clinical trials

MDA awarded a human clinical trial grant for development of Neurosurgery in London, England. The investment, totaling a critical biomarker for CMT to Mary M. Reilly, M.D., at UCL $1 million, will fund Reilly’s work to evaluate a new MRI protocol Institute of Neurology and National Hospital for Neurology and designed to detect disease-related changes in muscles over time >

Quest MDA.ORG/QUEST 7 PROGRESS NOW RESEARCH AND CLINICAL TRIAL UPDATES

in children with CMT1A, as well as in the other three most common types of CMT: CMT1B, Duchenne muscular dystrophy (DMD) CMT2A and CMTX. Currently, one of the major barriers to developing safe and effective treatments for CMT is a lack of outcome measures, or Encouraging Results biomarker tests that can accurately reflect the progression of disease during a short period of in DMD Gene Therapy Trial time. Because CMT typically progresses slowly, it can be difficult for scientists to detect drug Gene therapy addresses genetic cause of disease effects in clinical trial participants within the relatively short duration of most clinical trials. Sarepta Therapeutics has reported encouraging preliminary results from a phase With colleagues, Reilly aims to develop a 1/2a gene therapy trial designed to assess the investigational drug AAVrh74.MHCK7. new sensitive outcome measure that will allow micro-dystrophin in boys with DMD. researchers conducting clinical trials to reliably After 90 days in the trial, the first three participants all showed robust expres- detect any positive effects of a candidate treat- sion of micro-dystrophin — a shortened version of the protein that is absent in ment within a one- to two-year time frame. DMD-affected muscles. Participants also showed a decrease in levels of serum If successful, the project could shorten the creatine kinase (CK), an enzyme biomarker strongly associated with muscle dam- length of clinical trials, reduce the number of age caused by DMD. individuals needed to participate and hasten Principal investigator Jerry Mendell, M.D., at Nationwide Children’s Hospital drug development for CMT. in Columbus, Ohio, in collaboration with Louise Rodino-Klapac, Ph.D., developed AAVrh74.MHCK7.micro-dystrophin specifically for DMD. The drug is designed to Learn more about this exciting new address the genetic cause of the disease via the delivery of highly miniaturized project at strongly.mda.org. micro-dystrophin replacement genes that enable production of a functional protein

THE

LIFT to substitute for the dystrophin missing in people with DMD. Translarna Phase 3 Study Since results were announced, Sarepta’s Boys with a genetic DMD diagnosis may be trial was put on clinical hold due to a able to participate manufacturing issue. No safety issues were reported for participants in the trial, and Researchers at PTC Therapeutics are looking for individuals Sarepta submitted plans to address the with DMD to participate in a phase 3 study to evaluate the safety U.S. Food and Drug Administration (FDA) and efficacy of ataluren (brand name Translarna). concerns. In September, the FDA lifted the Translarna is designed to promote the formation of full-length and func- clinical hold, allowing the trial to resume. tional dystrophin protein in boys with a nonsense (premature stop codon) mutation. Of note: Two other gene therapy trials are Trial participants will be randomized to receive either ataluren or placebo to underway for DMD. Pfizer currently is testing determine whether treatment with ataluren is associated with stabilized or slowed PF-06939926 in a phase 1 trial, and Solid disease progression. Biosciences is testing SGT-001 in a phase 1/2 Total study duration for each patient will be approximately 144 weeks. At 12 clinic trial. Interim results have not yet been made visits (one every three months), disease progression will be assessed with a series of available for either study. functional tests including a six-minute walk test, timed function tests, the North Star Ambulatory Assessment and magnetic resonance imaging (MRI), as well as blood tests For more information, visit and physical examination to monitor for adverse events. clinicaltrials.gov. Enter NCT03375164 In order to be eligible to participate, individuals must To learn more or in the “Other Terms” search box for be male, 5 years or older, have a genetic diagnosis of DMD to inquire about Sarepta’s AAVrh74.MHCK7.micro-dystrophin caused by a nonsense mutation in the DMD gene and meet participation, contact trial. Enter NCT03362502 to learn about additional study criteria. Mary Frances Harmon Pfizer’s trial and NCT03368742 to read Throughout the study, participants will continue to see at 908-912-9256 or about Solid Biosciences’ trial. their regular doctor for routine care. [email protected].

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Duchenne muscular dystrophy (DMD) Facioscapulohumeral muscular dystrophy (FSHD) Ezutromid Development for DMD Discontinued MDA Grant PhaseOut DMD trial data showed no clinical benefit Supports

Summit Therapeutics has announced that it is discontinuing development of ezutromid for DMD, following reports that FSHD Clinical primary and secondary endpoints were missed after 48 weeks of treatment in the company’s PhaseOut DMD trial. Research PhaseOut DMD was a phase 2, multicenter, open-label clinical trial of ezutromid, a utrophin-modulation therapy. Thirty-eight boys Network enrolled in the trial completed the 48-week regimen. Although well-tolerated, ezutromid did not provide the desired Network aims to spur therapeutic effect in trial participants. As a result, Summit is wind- advances in FSHD ing down the study and focusing efforts on other therapeutic areas research and therapy going forward. development

If your child participated in PhaseOut DMD, you should MDA awarded a clinical contact their study doctors for more information. research network grant to develop and maintain a core FSHD Clinical Trial Research Network (CTRN). The invest- ment, totaling $1.2 million, supports seven medical centers that specialize in FSHD research and clinical care and is targeted to spur advances in FSHD research and speed the development of new therapies. Recent breakthroughs in research include the identification of the underlying molecular cause of FSHD: the abnormal activation of a gene called DUX4, which normally is silenced or inactive. Armed with this knowledge, a number of drug companies have begun working to develop and test targeted therapeutic strategies to treat FSHD. Consequently, an urgent need exists to establish the tools that will be necessary to exe- cute high-quality clinical trials quickly and efficiently. Successful FSHD clinical trials depend on several factors, including the ability to recruit patients, patient access, a precise understanding of the natural history of FSHD and the major contributors to its variability, and reliable outcome measures that are sensitive to change in FSHD. MDA funding will enable the FSHD Clinical Trial Research Network to build a team of trained clinical evaluators, all working with standardized approaches, and develop regulatory strategies optimized to streamline drug trials.

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Limb-girdle muscular dystrophy (LGMD) MDA Funds Creation of LGMD Clinical Research Network Network aims to accelerate treatments for LGMD

MDA awarded a clinical clinical trials and accelerate conduct a longitudinal research network grant to treatments for LGMD. study of candidate clinical Nicholas Johnson, M.D., at Vir- Therapy development for outcome assessments and ginia Commonwealth University LGMD could significantly bene- develop disease-specific Nicholas Johnson, M.D. in Richmond, to establish the fit from rich natural history data patient-reported outcomes. Limb-Girdle Muscular Dystro- to describe the clinical course Investigators will initially focus new network of LGMD clinics, phy Clinical Research Network. of the different forms of LGMD, on four different genetic LGMD Johnson and colleagues aim The $700,000 investment as well as from validated subtypes and will collect DNA, to standardize approaches supports seven U.S. care cen- clinical outcome assessments genetic diagnosis and clinical and develop clinical outcome ters with significant expertise that can be used to determine information to help character- assessments for use in future in LGMD research and clinical whether a drug has provided ize the natural course of clinical trials. care and is targeted to facilitate treatment benefit. the disease. the development of tools and An initial step in the Through the coordinated Read more about this infrastructure needed to effi- development of the net- activities and enhanced exciting new project at ciently and effectively conduct work infrastructure is to communication among this strongly.mda.org.

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WHEN YOU’RE CONCERNED ABOUT LUNG FUNCTION IN DMD, WHAT DO YOU DO?

First, take a breath. Lung function is important. So is feeling supported. Having access to respiratory information can make you feel empowered. On TakeabreathDMD.com, you can read about ways people with Duchenne muscular dystrophy (DMD) can help manage their lung function and their well-being. We’ll provide helpful information and keep you informed about the news in DMD.

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© Santhera Pharmaceuticals All rights reserved December 2017 DMD1010

B1162-002694_SANTHERA_QuestJrnlAd_M04-dsk.indd 1 12/15/17 3:38 PM

This advertisement prepared by Saatchi & Saatchi Wellness Client: Santhera Space: 4C Page Pubs: PP Contact: Doug Gardner Product: TakeabreathDMD.com Bleed: 8.625”x11.125” Quest Campaign: Santhera Quest Ad Trim: 8.375” x 10.875” Telephone: 646-746-5107 Job #: B1162-002694-00 Safety: 7.375”x9.875” Issue: NOT GIVEN. Please advise Publication Note: Guidelines for general identification only–Do not use as an insertion order. The following specifications were used to produceDO this proofNOT and are included PRINT herewith as an aid to help you in faithfully reproducing it. Screen Angles: Y M C K Dot Shape: Round Square Elliptical Euclidean Software manufacturer of dot shape THRIVE 365 HEALTH, WELLNESS AND INDEPENDENT LIVING Dollars for Scholars Scholarships help lessen the financial load of higher education. Here’s how students with neuromuscular disease find and win them.

BY CHERYL ALKON

In his application, BE REAL Schoppe, a 21-year-old who Nikaela Losievski, 22, of lives with DMD, wrote about Granger, Ind., will graduate Project Maynardstang, an from Michigan State University effort he started in 2011 to in December with a bachelor’s balance his love of the Ford degree in science with a con- Mustang and his dedication centration on neuroscience, and to raising awareness of neuro- she is applying for doctorate Anna Landre, a student at muscular disease. (“Maynard” programs in cell biology and Georgetown is Schoppe’s nickname.) neuroscience. She plans to teach University in His family’s 1993 Mus- and do research on spinal mus- Washington, D.C. tang, Ugly Betty, “is loud, and cular atrophy (SMA), which she it’s mainly to cruise around was diagnosed with at 16. and show off in,” Schoppe Losievski won several says. The car is painted black academic and other scholar- on top and red below, bisected ships, including one from her he cost of higher education has soared over the by a bright blue line to elementary school and one past two decades. According to U.S. News & World represent muscular dystro- for students from St. Joseph TReport, in-state tuition and fees at public universities phy awareness. Schoppe and County, Ind., and she feels that have increased 243 percent, while they have jumped 168 percent his father take Ugly Betty writing candid essays was key. at private institutions. to cruise-ins and car shows, “I encourage people to For many prospective college students, winning scholar- where he sells Project May- take every opportunity to get ships is key to making education more affordable. The trick is nardstang merchandise and involved in everything,” she thorough research. There are lots of scholarships out there, takes donations, giving all says, noting that participating many of which are earmarked for individuals with particular proceeds to MDA. in extra-curriculars in high backgrounds, students applying to particular schools, students The Route 79 Scholarship school gave her experiences to pursuing particular fields of study and myriad other consider- is helping to support Schoppe write about. She also advises ations. The best advice for students seeking financial assistance? as he studies website design not shying away from the Think broadly about how your situation applies to scholarships’ at Temple College in Texas. realities of life with a neuro- requirements and, above all, don’t be afraid to apply. He hopes to make Project muscular disease, even if it Maynardstang a full-time job means writing about miss- BE CURIOUS in the future. ing tests because of doctor Cody Schoppe of Cameron, Texas, found a perfect fit in an unexpected place. Sarepta Therapeutics, a medical research and drug development company that focuses on Duchenne muscular dystrophy (DMD), established the Route 79 Duchenne Scholarships program earlier this year, and Schoppe is one of the first recipients. Francesca Nolan, director of investor relations and corporate communications for Sarepta, says the scholarship applicants who stood out were authentically themselves and vastly curious, and they sought to both inspire others and be inspired by the world around them. Cody Schoppe, a student at Temple College in Texas

Quest 14 FALL 2018 Nikaela Losievski, a student at TOP TIPS FOR APPLICANTS Michigan State University Scott Hatley, 39, is executive director of > Start early. “Some applications Incight (incight.org), a Portland-based non- take a lot of effort.” profit that helps people overcome barriers > Br oaden your search. “People don’t to education, employment and indepen- realize how many scholarships are dence. Living with Duchenne muscular out there, such as from the local dystrophy (DMD), Hatley won scholarships Kiwanis, Rotary Club, your own high for college, and today he helps decide school, community foundations and so on.” which candidates receive Incight scholar- > Be focused. “It helps to have a core focus ships, which range from $500 to $2,500. or goal for what you want to pursue, so Hatley has some advice for scholarship you can find the right scholarships for the applicants: path you are taking.” appointments or how pain Landre is thinking about working with the United States makes it hard to study. Foreign Service after graduation. She recommends taking a “Show how having a broad approach when considering scholarship applications. disability is a disadvantage,” “If a scholarship is looking for diversity, disability is diver- she says. “With muscular sity — it’s not just race or religion,” she says. “People shouldn’t Education dystrophy, a lot of it is about be afraid to use their experience as a person with a disability to Resources energy — we don’t have empower them to get their education. Talk about the ways that Find resources to help you the capacity, so it’s easy to your life has been challenging, but always end in the ways that choose, prepare for and tire out.” you have grown and been able to accomplish things.” Q pay for higher education While your essay should at mda.org/young-adults/ reflect you, looking to others Cheryl Alkon is a freelance writer based in Massachusetts. education. for help can give you an edge. “Don’t just do an essay and submit it; I had multiple people edit my stuff,” she says. That extra feedback helped her strengthen her scholar- ship applications.

INNOVATIVE PRODUCTS FOR SENIORS AND PEOPLE WITH DISABILITIES THINK OUTSIDE THE BOX Take it with you. Look for scholarships that Not ON you. focus on diversity, says Anna Carry your phones, keys, documents Landre, 19, a sophomore at and many personal items in Nuprodx Georgetown University’s easy to-acess cases. No more bags in your lap or searching for lost items! School of Foreign Service majoring in regional and The HOLSTER comparative studies. The HOLSTER Landre, who lives with Now your phone is always at hand: SMA, was valedictorian of Swivel mount keeps it out of the way, and swings out for easy access when The CADDY her high school. But because you need it. Don’t miss another call! Georgetown doesn’t award academic scholarships, Landre The CADDY searched online for schol- Keep your keys, wallet, important papers—even your iPad® with you. arships and won several, Easy slide-out mount keeps it out of including one from her high the way except when you need it. school, one from the Lep Foun- dation and one from her local Visit our web site for complete information about our products. Division of Vocational Rehabil- nuprodx.com itation in Ocean County, N.J. 855-221-5171

Caddy - Holster.indd 1 4/24/2018 9:38:30 PM Current and former caregivers find new career paths that tap into their life experiences BY DONNA SHRYER OPENING

Three mornings a week, Karen doorsToenniss, 50, grabs the car keys and dashes off to her part-time position as coordinator for the MDA ALS Care Center at Houston Methodist Hospital. tNestled in her heart, she carries her husband’s memory. “Every time I save someone even a little bit of frustration as they deal with ALS, it feels like Mike is with me,” she says. >>

Quest 16 FALL 2018 doors

Quest MDA.ORG/QUEST 17 Taking the reigns as the co-director of the Houston Karen Toeniss, right, gained a clinic’s coordinator wasn’t a Methodist Neurological passion for ALS planned career move, although Institute and Mike’s neurol- while caring for her late husband, the opportunity did acknowl- ogist, phoned Toeniss. “Dr. Mike, center. edge Toeniss’ passion, which Appel asked me to run his ALS grew from her life experience. clinic,” Toeniss says. “I had no “I left my job as a neonatal experience managing a clinic, and pediatric intensive care and I wasn’t planning a new unit nurse in 1995, two years career based on my years as after my husband Mike was Mike’s caregiver. But Dr. Appel diagnosed with ALS. I was said, ‘I can teach you how to his caregiver until he passed run a clinic; I cannot give you in 2006,” Toeniss recalls. “In the passion you have for ALS.’ 2007, I thought, ‘What am I That was 11 years ago.” supposed to do now?’ I had a 12-year gap in my resume.” FITTING THE PIECES That’s when a door swung TOGETHER open. Stanley Appel, M.D., Not everyone’s professional journey is like Toeniss’, with a door fortuitously opening FILL THE GAP at just the right moment. More often, if your caregiv- When you’ve been a caregiver for a loved one, you probably took time away from active ing experience beckons you employment. But don’t think of it as a gap in your résumé, urges Kerry Hannon, a career to follow a new career, you’ll transitions expert. Instead, think of it as time when you developed new skills that will need to open your own doors. help you in the professional world. A good place to begin is with three key questions, suggests Here are two strategies for building a solid résumé: Kerry Hannon, an expert on career transitions and author EXPRESS EMPHASIZE ACTIVE LEARNING. of “Great Jobs for Everyone EXPERIENCES AS “Employers want someone who’s not stuck in 50+.” Your answers will sig- 1 PROFESSIONAL 2their ways and is an active learner,” Hannon says. nal if the time’s right to make SKILLS. That makes education and certifications strong résumé a change. “Your mission as a job seeker features — but look deeper, Hannon urges. People with is to drill down into the experience in caring for someone with a neuromus- 1. Are you physically fit? business side of caregiving,” cular disease likely have many experiences that count “When we devote a large Hannon says. That means as active learning. For example, although John Mower part of our life to caring for translating your duties into left his job as a high school counselor in 2012, the years another, we sometimes forget business terms whenever when he was full-time caregiver to his wife, who had to take care of ourselves. possible. For example, you ALS, were packed with impressive active learning. Potential employers want to didn’t help a child get a “While I cared for Robin, she and I were heavily see that you have the energy wheelchair; you served as a involved with MDA and the ALS Association. We raised and endurance to get the patient advocate, spearhead- funds for research, Robin spoke at MDA gatherings, job done,” Hannon stresses. ing a complex negotiation we attended ALS walks and we spoke about ALS to Regardless of how strong process to secure needed first-year medical students at the University of Toledo your desire is to pursue a equipment. Medical Center,” John says. “For five years, we traveled new calling, you may need to At different points during across the United States in a motor home, raising aware- step back and buck up your your caregiving experience, ness, attending ALS-related events and helping others stamina and health. Grant you were likely also a project diagnosed with ALS.” yourself this time. manager, financial manager Mower’s experience demonstrates an adaptability and personnel director as and willingness to learn that go well beyond classroom 2. Are you financially fit? Do you hired and oversaw care- walls. After all, showing can be much more effective research on typical salaries in givers and medical experts. than telling. your chosen field or orga- nization. Hannon suggests

Quest 18 FALL 2018 More often, if sudden twists and turns, as your caregiving John Mower, 56, explains. CAREGIVING AND Mower’s story began in 2009, EMPLOYMENT IN experience when his wife, Robin, was THE UNITED STATES diagnosed with ALS. At first, beckons you Mower worked as a high Approximately caregivers school counselor by day and 43.5 million to follow a new provide unpaid care to an adult or child. cared for his wife by night. career, you’ll In 2012, he retired to care More than of all caregivers need to open your for Robin full-time. After his 75 percent wife passed in 2017, John felt are female, and they may spend as much as 50 own doors. a need to reach out to other percent more time providing care than men. families struggling with writing down a budget. “You ALS — but then suddenly it About 17 percent of full-time want to be financially nimble, became too painful. workers act as caregivers. so you can do the job you “I know I can help people want to do,” she says. with neuromuscular disease, 39 percent of caregivers leave but after everything I went their job to have more time to care for a 3. Are you spiritually fit? through, I suddenly wasn’t loved one. “This takes serious soul sure if I could be there emo- searching — especially when tionally,” John says. of caregivers you’re coming off of years If John chooses to return 34 percent leave a job because their work does not dedicated to caring for a loved to the ALS community, one,” Hannon says. either professionally or as a provide flexible hours.

And don’t be surprised if volunteer, Hannon strongly Sources: National Alliance for Caregiving, AARP, Institute on Aging, Gallup-Healthways your spiritual fitness takes recommends that he — or

ADVERTISEMENT change, and to promote her- Take 42-year-old Erin self she needed to take a fresh Hill, who is area director of look at her professional skills. MDA South Dakota. Her Shumsky began as a career choice evolved after registered nurse (RN) and her father was diagnosed eventually joined a medical with ALS in 2011. management company in “I shared caregiving with Minnesota, where she served my family, and after Dad as an RN reviewing claims passed away in 2012, I felt a and prior authorization pull to help the neuromus- requests. In 2016, the family cular disease community. I moved to Ann Arbor, Mich., wasn’t ready to stop fighting and Shumsky set out to find back against ALS,” Hill says. a job. As Hill settled into her Writing a résumé posed position, she met several a dilemma. She did not want co-workers who had also lost to diminish her career as a someone to neuromuscular nurse, but she did not want to disease. “Like me, they were remain in nursing. pulled to MDA, so they could “During my years with continue the fight,” she says. the medical management Nearly four years into her company, I learned so job, Hill says her drive has much that helped me as a only grown stronger. “My goal Duchenne parent,” Shumsky is to help raise the research recalls. “I wanted to help funds so we can find a cure as families that didn’t have my soon as possible. Then I’ll be knowledge base.” out of a job!” she says with a

Jennifer Shumsky (right), pictured with anyone in a similar situa- Shumsky revised her chuckle — followed quickly her family, was happy to find a new tion — makes time in his life résumé to put less emphasis with a heartfelt sigh. “I can’t career helping other Duchenne families. to take care of his spiritual on nursing and more empha- wait for that day.” Q fitness. “It can be religion, sis on the skills she learned, meditation, yoga, long walks including a keen under- Donna Shryer is a freelance with your dog, or anything standing of the equipment, writer in Chicago. that keeps you centered and medications, insurance replenishes your soul.” and appeals specific to Duchenne families. RETHINK YOUR The tactic worked, Thank You, RÉSUMÉ and as Shumsky says, Caregivers! Jennifer Shumsky is a “I’m finally able to put MDA would like to primary caregiver for her all my skills together recognize all family 17-year-old son, Xavier, who and use them to help caregivers for your devotion was diagnosed in 2006 with families living with and commitment. Thank Duchenne muscular dystro- Duchenne.” you for all you do to phy (DMD). She also is a empower and support Personalized Access Coordi- FOLLOW YOUR adults and children living nation Team manager at the PASSION with neuromuscular Little Hercules Foundation Sometimes it feels as diseases. MDA is here to Duchenne Family Assistance if your path is chosen help empower and support Program, a nonprofit dedi- for you. If caregiving caregivers as well. To find cated to improving the helped you find a new guidebooks, articles and lives of those diagnosed focus for your life, that online resources, visit with DMD. deserves top billing

mda.org/services/ Shumsky’s path to this in your résumé and Erin Hill enjoys spending time at MDA Summer caregiver-resources. position meant a career during interviews. Camp as part of her role with MDA South Dakota.

Quest 20 FALL 2018 ADVERTISEMENT

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©2018 AveXis, Inc. All rights reserved. US-UNB-18-0111 HOW

AREdrugsDEVELOPED It takes a lot of time and effort for a new drug to go from the scientist’s lab to the pharmacy shelf. Here’s the process in a nutshell. BY AMY MADSEN Have you ever wondered what has to happen for the scientific community and pharmaceutical industry to develop a new drug and get it on the market, where physicians can prescribe it to treat a neuromuscular disease? What does it cost? How long does it take? Estimates vary, but it’s safe to say that, on average, out of 10,000 experimental hcompounds, one drug may make it to pharmacy shelves, and it will take at least 10 years and more than $1 billion to get it there.

Time and costs are directly one with the best chance help determine how much associated with the number of working and the lowest drug should be given (dos- of steps involved in the drug chance of causing side effects. age) and how often. These development process — all of This compound is called the studies typically are done which help ensure that treat- development candidate. in animal models, and there ments that reach the market are calculations that predict drugs are safe and effective. STEP 2: PRECLINICAL how to convert the amount DEVELOPMENT of drug given to an animal STEP 1: DISCOVERY During this time, researchers to the amount that should Researchers first need to conduct a series of tests on be given to humans. identify the underlying gene the development candidate • Toxicology studies, where alterations or other causes of to assess its effectiveness and developers attempt to find a disease to know where to toxicity (the potential to cause an upper dose that is toxic start in developing a ther- serious harm). These tests to determine how high apy. This can be a long and include: a dosage they can use complex process involving, • Animal models of disease in people. Sometimes, for example, studying tissues to assess whether the drug signs of a side effect from patients living with the is able to alter the dis- may not be recog- disease, creating lab mice ease course. These studies nized until a drug is that model the disease, and provide early insights on administered to patients, identifying and validating whether the drug might but toxicology studies targets to see how modulat- work in people. are designed to reduce the ing those targets alters the • Absorption, distribution, chances of this happening. disease course. metabolism and excretion Results of these tests help While thousands — or (ADME) studies to assess a developers determine how a tens of thousands — of compound’s stability, what drug will be administered so compounds may be possible happens if it degrades, that it gets to the specific area candidates for developing into where it goes in the body of the body where it is needed a drug, early testing helps and what happens to it once and at the right concentration. researchers determine which it’s there. If a compound fails They also help developers are most promising and wor- ADME studies, researchers determine the formulation, thy of further study. may return to optimization or how the drug is made. In In a process called opti- in order to try a different addition to the active ingre- mization, each compound, or development candidate. dients, the formulation could series of compounds, is tested • Pharmacokinetics and phar- include packing components until the developers decide macodynamics studies to to turn it into a pill, liquids to that they have the optimal investigate what happens to turn it into a fluid, or other compound selected — the the drug after delivery and components that help the drug

Quest MDA.ORG/QUEST 23 get to where it needs to go or that they have a robust proto- and effective. They are very disperse through the tissues. col to make their drug and the different from routine medical At the preclinical stage, ability to make enough uni- care (including prescribed developers have to be able form drug for clinical trials. use of drugs approved by the For his work to to show that they can make U.S. Food and Drug Admin- develop Spinraza, Adrian Krainer exactly the same drug STEP 3: CLINICAL istration, or FDA), because was recently substance every time, even TRIALS it’s unknown exactly how the awarded the 2019 when they make much larger Clinical trials are experi- treatment will affect people. Breakthrough Prize quantities. Pharmaceutical ments done in humans to There are three stages in Life Sciences. companies must demonstrate see if a potential drug is safe of clinical trials, from early, small-scale, phase 1 studies to late-stage, large-scale, phase SPINRAZA: THE STORY BEHIND 3 studies. A LIFE-CHANGING DRUG As developers design a clinical study, they will oligonucleotides that eligible patients have to consider what they want to Adrian Krainer, increase correct splicing of be recruited, who don’t all accomplish for each of the Ph.D. SMN2. This was followed enroll at the same time. The different clinical research by a great deal of lead opti- later-stage trials have to wait phases, and they begin the mization, characterization for completion and evalua- Investigational New Drug of the mechanism of action tion of the earlier trials. (IND) process. and extensive testing in Overall, this was a highly The FDA’s primary Adrian Krainer, Ph.D., St. SMA mouse models. efficient process, consid- concern is to protect trial Giles Foundation profes- We published the devel- ering how many unknowns participants. The agency will sor and program chair opment candidate, which there were at the start of require that the developers of Cancer & Molecular is the same as Spinraza, in the trials: Could SMA be begin testing the drug at Biology at Cold Spring 2008. Ionis then carried out effectively treated after very low doses to look for Harbor Laboratory in rigorous ADME and toxi- disease onset? Which SMA any signs of toxicity, often in New York, led research to cology studies, including in type(s) would be most likely healthy volunteers instead of develop Spinraza for spinal non-human primates, and to respond to treatment people with the disease, before muscular atrophy (SMA). selected intrathecal bolus and show clear effects of moving up to doses that MDA funded foundational administration [injection the drug? How much drug might be effective. work in SMA and invested into cerebrospinal fluid] as should be given and how The FDA also makes sure nearly $750,000 in awards the optimal route. frequently for maximum that the trial is well-designed, to Krainer for early-stage After the IND application efficacy within a safe range? so as to have the best chance development of the break- was approved, the first-in- What should be the primary of yielding useful information through drug. Here, Krainer human dose was given in outcome measures, and for about the drug with minimal shares the story of Spinraza’s November 2011. how long should how many risk to the trial participants. development. Ionis partnered with patients be treated before Drug developers must Spinraza’s entire dis- Biogen for the later clinical a statistically significant submit an IND application covery, development and trials. These lasted about change in these measures to the FDA before beginning approval process took five years, until FDA might be observed? clinical research. Included about 12 years, not count- approval came on Dec. 23, Happily, the clinical in the application are animal ing previous foundational 2016. They involved hun- studies were extremely study and toxicity data, manu- work on RNA splicing, dreds of SMA patients and well designed, and the facturing information, clinical antisense technology, SMA many clinical centers two pivotal phase 3 trials protocols, data from any prior natural history and mech- in multiple countries. achieved the efficacy human research and informa- anisms, mouse models, This may seem like a endpoints a year ahead of tion about the investigator. clinical measures, etc. long time, but each trial schedule. The results were The FDA IND review team In 2004 we began to needs to be rigorously compelling, and as a result, has 30 days to review the IND collaborate with Ionis designed, regulatory and FDA approval for the first submission. They may accept Pharmaceuticals to conduct institutional approvals SMA drug was granted in the IND and grant approval a screen for antisense have to be obtained, and record time. to begin clinical trials, or they may issue a clinical hold to >

Quest 24 FALL 2018 MK_HME_Quest_v1_Layout 1 5/31/18 1:32 PM Page 1 DRUG DEVELOPMENT IN A NUTSHELL

DISCOVERY PRECLINICAL DEVELOPMENT CLINICAL TRIALS

> Identify disease cause > Determine delivery > Human clinical trial phase 1 > Develop targets and formulation > Human clinical trial phase 2 > Develop compounds > Test safety* > Human clinical trial phase 3* > Select development *Submit New Drug Application to FDA candidate *Submit application for clinical trials

delay or stop the investigation Once the FDA receives an to address questions based if they think participants will NDA, the review team decides on existing data. In other be exposed to unreasonable or if it is complete. If it is not cases, the FDA requires significant risk. complete, the review team can additional studies. At this The developers are respon- refuse to file the NDA. If the point, developers can decide sible for informing the review NDA is accepted, the review whether or not to continue team about new protocols, team has six to 10 months to further development. If a as well as serious side effects decide whether to approve developer disagrees with seen during the trial. This the drug. an FDA decision, there information ensures that the Often, the NDA contains are mechanisms to make team can monitor the trials sufficient data for the FDA a formal appeal. carefully for signs of any to determine the safety In cases where the FDA problems. After the trial ends, and effectiveness of a determines that a drug has researchers must submit drug. Sometimes, though, been shown to be safe and study reports. questions arise that require effective for its intended use, This process continues additional consideration. the applicant must develop until the developers decide In these cases, the FDA and refine prescribing infor- to end clinical trials or file a may consult with one of its mation for it to be approved. marketing application. advisory committees to get This is referred to as “label- independent, expert advice ing.” Labeling accurately and STEP 4: FDA REVIEW and to permit the public to objectively describes the basis If clinical trial data indicates make comments. for approval and how the drug a drug is safe and effective During the review should be used. for its intended use, the process, the review team pharmaceutical company conducts a full analysis of STEP 5: files an application to the application; FDA inspec- FDA APPROVAL market the drug. The New tors travel to clinical study Although the drug may be Drug Application (NDA) sites to conduct routine made available on the market includes all known data about inspections for evidence of now, the true results of its Rooting for the drug and is intended fabrication, manipulation safety and efficacy will be Research to demonstrate that the or withholding of data; and determined over its lifespan MDA is a strong advocate drug is safe and effective the project manager assem- in the marketplace. for policies that advance for its intended use in the bles all reviews and other It may be frustrating to see biomedical research and population studied. In documents into an “action potentially lifesaving drugs ensure that safe and addition to clinical results, package,” the official record take so long to go from start effective treatments are the NDA contains proposed of the FDA review. The to finish, but drug develop- developed and delivered labeling, safety updates, drug review team issues a recom- ment is an intricate process as quickly as possible. abuse information, patent mendation, and a senior FDA conducted with safety in mind Learn about the policies information, data from studies official makes a decision. and everyone’s best interests and issues that impact our outside the United States, Often, some issues need to at heart. Q community and how you institutional review board be resolved before a drug can can get involved at compliance information and be approved. Sometimes, the Amy Madsen is a science writer mda.org/advocacy. directions for use. FDA requires the developers and frequent contributor to Quest.

Quest 26 FALL 2018 MK-129556 Q700M_Quest Ad_FALL2018.qxp_. 9/5/18 12:35 PM Page 1

SEDEO® ERGO™

Shawn H., Motivational Speaker TAKE TO THE

skiesBY BRITTANY JOHNSON HERNANDEZ Access to air travel should not be denied based on physical ability. Here’s what MDA is doing about it.

Quest 28 FALL 2018 Every day, millions of people board flights bound for destinations across the United States and around the globe. Unfortunately, navigating esprawling airports and negotiating cramped planes makes traveling by air an uncomfortable experience for most passengers, and it can prove to be downright daunting for those with mobility challenges and other disabilities. >>

Quest MDA.ORG/QUEST 29 act’s passage laid the ground- wheelchairs can present many work for the ADA four years challenges to passengers, KNOW YOUR RIGHTS later. While the ACAA was a especially when the wheel- Because of the Air Carrier Access Act good start toward the goal of chair must be checked in (ACAA): equalizing access to air travel, the airplane baggage com- > You can’t be refused a plane ticket the current system still leaves partment. Recent accounts because of a disability. much to be desired for travel- of expensive, specialized > You can’t be required to sit in a certain ers with disabilities. mobility devices being nearly seat or area of the plane because you MDA often partners with destroyed in the baggage han- have a disability. other organizations to boost dling process have no doubt > You are entitled to assistance boarding our advocacy efforts, and the discouraged many people and making connections. issue of accessible air travel from boarding an airplane. No is no exception. By joining one wants to find that their forces with other groups checked item has been dam- For more information, visit representing disability com- aged in flight, but when that transportation.gov/airconsumer/ munities, we have been able to item is an absolute necessity, passengers-disabilities. amplify the voices of travelers like a wheelchair, the conse- with disabilities before Con- quences can be life altering Many people living with gress, the Federal Aviation until the problem is resolved. diseases and conditions that Administration (FAA) and the MDA is working with limit mobility, like muscular airline industry. As Congress members of Congress on an dystrophy and ALS, avoid air considers legislation regard- initiative that would require travel altogether because of ing the FAA, MDA has taken the FAA to undertake a study the constraints and short- a seat at the table to advocate on the use of in-cabin wheel- comings of the system, but for provisions that would chair restraints. If people could every person should have the make air travel easier for travel in their wheelchairs opportunity to travel by air, people living with neuro- on the plane, instead of being especially those who need muscular diseases. One of required to check them, dam- to travel long distances for these measures would create ages to equipment would likely specialized medical care. MDA a diverse advisory committee be minimized and air travel is working to ensure that air that would include individuals would become a more pleasant travel is a reality for those liv- from the disability community experience. While the process ing with limited mobility, from to investigate and report on of conducting a study and eval- business travelers to sightseers the needs of all passengers uating results may take some and everyone in between. with disabilities. If created, time, MDA continues to work this committee would provide toward this long-term goal. > LEGISLATIVE the FAA with valuable insight SOLUTIONS on the real-world travel Many people do not realize requirements and constraints Traveling with that the protections of the of people with disabilities. manual or power Be Informed Americans with Disabilities This type of direct input One way to improve your Act (ADA) do not extend from the disability commu- wheelchairs can air travel experience is to air travel and that this nity would help shape policy present many to know what resources method of transportation going forward, and MDA will and supports are in place is governed by another law continue to urge Congress to challenges to to assist passengers entirely. Thirty-two years pass this legislation. passengers, with disabilities. MDA’s ago, the Air Carrier Access MDA is also working Accessible Air Travel Act (ACAA) was signed into on a more specific initiative especially when the Resource Center helps you law by President Ronald to lay the groundwork for wheelchair must find important information Reagan. The ACAA prohibits longer-term changes to the about airports, airlines and discrimination against indi- aviation industry that would be checked in the your rights as a traveler. viduals with disabilities who make it easier to travel with airplane baggage Visit cqrcengage.com/mda/ travel on any airline operating assistive devices. Travel- accessibleairtravel. in the United States. The ing with manual or power compartment.

Quest 30 FALL 2018

WHAT MDA FAMILIES SAY ABOUT AIR TRAVEL

More than SIGNIFICANT ACCESSIBILITY ISSUES IDENTIFIED AS PROBLEMATIC WHILE TRAVELING: 1/2 have experienced significant delays for requested disability- Education of Wheelchair Bathroom related in-flight crew damage and aisle size assistance and airport when employees traveling by air More than 2/3 More than 40% of those flying with indicated they would a wheelchair or scooter indicated their opt to stay in their device was damaged in flight wheelchair in flight if given the option

FINDING OUR VOICE was damaged during travel. As MDA works toward our There is recourse for pas- These numbers are unsettling goal of making the skies sengers when travel plans alone, but our concerns are friendly for all travelers, we go awry, including damage further compounded by the depend on the individuals and to wheelchairs and other fact that fewer than 4 percent families we represent to help assistive equipment, but many had ever filed a complaint with us make our case to members people either don’t know what the Department of Transpor- of Congress, the Department to do or don’t feel that the tation (transportation.gov/ of Transportation and air car- process will meaningfully fix airconsumer) and more than riers. Start by visiting MDA’s the problem. MDA created half of respondents did not advocacy page (mda.org/ the Accessible Air Travel even know they could file a advocacy) to get up to speed Resource Center to help complaint about the problems on the latest developments people with neuromuscular they experienced. and find out how to advocate disease navigate the current We were disappointed to for accessible air travel and a travel landscape, but there is see these results, but we number of other issues. When Be an Advocate significant room for improve- were not surprised by them. we work together, the sky’s Together we can ensure ment on the part of the MDA has and will continue the limit. Q that the voice of our government and airlines. to use the findings of this community is heard. In a 2016 survey of more survey as a powerful tool to Brittany Johnson Hernandez That is why we ask you than 2,000 people living with advocate for positive changes became MDA’s director of to join MDA’s network neuromuscular disease, more to the aviation industry in our advocacy in July 2018. She is of advocates, families, than 70 percent indicated that work with the government a professional public health advo- volunteers and partners. they have experienced prob- and airlines. cate who previously served as the Visit mda.org/advocacy lems with accessibility while However, our advocacy principal transportation staffer and click on “Become an traveling by air, and 40 per- efforts are only as powerful as for a member of the U.S. House Advocate.” cent said their mobility device the voice of our community. Committee on Transportation.

Quest 32 FALL 2018 ADVERTISEMENT A chance to advance DMD therapy Join a study of respiratory function in Duchenne muscular dystrophy (DMD).

The SIDEROS study is a clinical trial that will study whether a therapy called idebenone is safe and effective at delaying the loss of breathing function in boys and men with DMD.

The study will compare the efficacy of idebenone to placebo in those currently on steroids (either prednisone or deflazacort).

The therapy Who can participate? Idebenone is an oral tablet developed by • Males with DMD, any mutation Santhera Pharmaceuticals, a specialty • Age 10 or older company focused on developing novel • Ambulatory or non-ambulatory treatments for DMD. • On corticosteroids for at least 12 months • Forced Vital Capacity between 35% and 80%

Find out more about the study or who can participate at SiderosDMD.com or by emailing us at [email protected].

© Santhera Pharmaceuticals All rights reserved December 2017 DMD1023

B1162-002244_RAXONE_Sideros_Clinical_Trial_Ad_M10.indd 1 12/18/17 12:27 PM The mainstream success of adaptive clothing shows that people living with disabilities have a passion for fashion BY ANDREW CONNER

ADAPTIVE OF TARGET COURTESY IMAGES IS THE BLACK This fall, New York Fashion Week openedew with a bang: A runway show called Fashionn Revolution presented numerous types of adaptive clothing worn by 30 models with disabilities. Organized by the Runway of Dreams Foundation — a nonprofit created by Mindy Scheier, whose son, Oliver, has a rare type of muscular dystrophy — the show highlighted tthe foundation’s goals of dispelling common fashion industry misconceptions about people with disabilities.

Quest 34 FALL 2018 Features like hidden snap closures and wrap-around zippers make adaptive clothing easy to wear.

IMAGE COURTESY OF BILLY FOOTWEAR

how easy-to-wear recent Fashion Revolution clothing that looks show featured clothing and feels good designed by Nike, Target can affect a and Tommy Hilfiger, the last Fashion person’s life. of which collaborated with TIP #1 “It gives Scheier to create its adaptive them a sense of clothing line. Adaptive cloth- Plan ahead. Jenny Imhoff, independence,” ing is also available at Kohl’s, whose daughter, Reagan, has Anderson says. Sears, J.C. Penney and online SMA, recommends research- “Having a retailer Zappos. ing before heading to a store, patient be able Consumers hope more especially when traveling to larger cities. “When we travel to do things brands will take note of the to New York or Chicago, themselves is growing market for adaptive obviously those are bigger “The first misconcep- a major thing clothing. markets, so we can find more tion is that people with we work “I’ve been with the neu- adaptive clothing in stores,” disabilities are a niche toward. It romuscular disease clinic for she says. “We’ll sometimes demographic. In fact, people gives them four years, and fashionable send an email or go to the with disabilities are the larg- confidence, adaptive clothing didn’t even company’s website to find est minority on the planet,” and they can exist when I started,” Ander- out which locations have Scheier says. “The second is choose to fit in or stand out son says. adaptive clothing.” that these people don’t care in a way that they want to

how they look and don’t by getting clothing they like, Reagan, 13, shows off spend money on clothing.” instead of sweat pants or a jacket from Target’s oversized T-shirts.” adaptive clothing line. YOU ARE WHAT For Ben, a 13-year-old YOU WEAR with spinal muscular atro- Scheier’s experience with her phy (SMA), it was all about son and her background in sporting a pair of high-top the fashion industry cemented sneakers. her outlook on adaptive cloth- “We had a hard time ing early on. getting Ben’s braces in high- “What you wear is core tops,” says Page Laska, Ben’s to who you are as a person, mom. “So I began searching and it has a direct correla- for high-tops, and I came ew tion with your confidence,” across BILLY shoes. When n she says. “In my own world, we got them, we happened to it has given Oliver such a have a family dinner. He put sense of being included. Even them on and showed every- being able to wear a simple body his new shoes with a pair of jeans — what that did beaming smile.” for him is unimaginable.” Kim Anderson, MS, NOT JUST NICHE OTR/L, an occupational As companies realize the therapist at the MDA Care demand for adaptive cloth- Center at Children’s Hospital ing, some are making it part of Philadelphia, has seen of their business plans. The

Quest MDA.ORG/QUEST 35 Runway of Dreams founder Mindy FINDING Scheier (standing, right) onstage with ADAPTIVE models during Fashion Revolution CLOTHING Start your fashion journey with these brands and retailers that offer adaptive clothing online:

BILLY Footwear: This company’s flip-top zipper sneakers are highly adjustable and easy to take on and off.

billyfootwear.com OF DREAMS FOUNDATION RUNWAY FOR IMAGES GALAI/GETTY NOAM BY PHOTOS

Target’s Cat Target: Check and Jack out Cat & Jack display during Fashion the Fashion adaptive clothes Revolution event TIP #2 for boys and girls as well as their Search for style. Google and women’s and other search engines can be men’s adaptive great tools for finding clothing lines for adults. that fits a specific need, whether it’s easy on/off shoes target.com or adjustable-waist pants. Page Laska, mother of a 13-year- Tommy Hilfiger: old with SMA, recommends The Tommy adding words like “trendy” Hilfiger Adaptive or “stylish” to your search to line brings the weed out more old-fashioned designer’s options. You can also try signature Reagan, a 13-year-old for- she says. “In the past, we limiting your search to recent preppy style to mer MDA Ambassador who would have to make her some- results so you’re likely to find jeans, sweaters, polos lives with SMA, says access to thing, and as she got older it newer products. and more. adaptive clothing is improv- wasn’t cool and it looked so usa.tommy.com/ ing, but she still doesn’t have different. With Target’s line, tommy-adaptive as many options as her peers she loved them — they looked without disabilities. just like the other kids’, and “I hope the future of Zappos.com: This “It’s getting better, but it’s they’re made specifically for adaptive is in-store,” she says. online retailer still something you have to wheelchair users.” “It was important to start organizes their search for because there are online to demonstrate there shoes and clothing only a few stores that offer LOOKING FORWARD is a market out there and that into helpful categories, it — but it’s great that they Even with retailers like Tar- disability knows no age or such orthotic-friendly do,” she says. get bringing adaptive clothing socioeconomic background, shoes and shirts with Reagan’s mom, Jenny to brick-and-mortar stores, but if we really want to be magnetic closures. Imhoff, explains that when for now the internet offers mainstream, it will be in zappos.com/adaptive it comes to finding clothing the most options. However, as stores. I do think that will in stores, Target has had the the adaptive clothing market happen in our lifetime.” Q most to offer. grows, Scheier believes adap- “Last year, we got Reagan tive fashion will become easier Andrew Conner is a writer and two different coats at Target,” to find everywhere. editor for Quest.

Quest 36 FALL 2018 In 2018, Muscle Walks across the country united friends, neighbors and communities in celebration of the strength of MDA families.

mdamusclewalk.org Muscle Walk

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Building Momentum A lifelong MDA supporter runs in a memorable Boston Marathon with MDA Team Momentum

MDA has always been a part of So when deMello watched Joe deMello’s life. Neuromus- the Boston Marathon in April cular disease runs in his family, 2017, while he and his sister with Charcot-Marie-Tooth both attended Northeastern disease (CMT) affecting his University, he got inspired and father and aunt and Duchenne wanted to try it — even though muscular dystrophy (DMD) he didn’t consider himself a affecting one of his cousins. runner. “When we were kids my “I said to my sister, ‘It would dad would drive around and be cool to run it,’ and she said, we would donate to the Fill the ‘You should see if MDA does Boot drives,” he says. “Every anything,’” deMello says. That time I go by a fire station I conversation gave him the spark think about MDA.” DeMello he needed to reach out to MDA also remembers participating Team Momentum and apply to in Hop-a-Thon fundraisers for run the 2018 Boston Marathon. local MDA telethons in Plym- After being accepted in Joe deMello running the 2018 Boston Marathon outh and Needham, Mass. October 2017, deMello was

Quest 38 FALL 2018 swept up in a whirlwind of deMello says. “They called it fundraising and endurance Monsoon Monday.” training until the big race in Runners were hit with heavy April 2018. rain, wind speeds that reached “One word I would use to more than 25 miles per hour describe the experience is and temperatures that were ‘humbling,’” he says. “From train- among the coldest recorded ing to working with MDA and all at a Boston Marathon in the of my donors — I had a certain past 30 years. Through all of it, amount of self-confidence, but I deMello remembered what he wasn’t expecting certain people was running for and maintained to donate, like my friends at a sunny disposition. Joe deMello’s family braves the weather to show their support. school. As a college student, “It was one of the best days While deMello registered feeling of crossing that finish there’s only so much you can of my life,” he says. “You’re on a for the marathon thinking it line was absolutely electric, give, and the fact that I could cloud when you’re running, and would be a once-in-a-lifetime and whether it’s this spring or raise about $15,500 — it was I can vividly remember most of event, he does plan on running in five or 10 years, I’d love to do eye-opening.” the race. In a lot of the pictures again — and raising money for it again.” However, even after putting you’ll see me smiling. I was so MDA — in the future. his all into raising money and happy seeing my family hold “A lot of people in my Cross the most meaning- training, deMello could have up signs for me. Then, crossing training group said, ‘You’ll ful finish line of your life never prepared for the condi- the finish line and seeing the want to come back,’ and I told with MDA Team Momentum. tions on race day. MDA team — that was just them running long-term wasn’t Registrations are now live for “I’ve been told that I had awesome, and it was one of the for me. But sure enough, the 2019 events. Find upcoming a very unique experience most memorable moments of second I got on the course races and join the team at because of the weather,” my life.” they were right,” he says. “The mdateam.org.

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WHAT COULD SPINRAZA UNLOCK?

Lauren age 20 he fi rst treatment for children and ater-onset ype M adults with sinal muscular atrohy M treated with I

Inivial resls ma var base on several acors inclin severi o isease iniiaion o reamen and duration of therapy. SPINRAZA was evaluated in a well-controlled study of 126 individuals with later-onset (Types 2 and 3) IMPORTANT FACTS ABOUT SPINRAZA® (nusinersen) SMA. The results are supported by an open-label study of 28 individuals with later-onset (Types 2 and 3) SMA, aged 2 to 16 years at fi rst dose. Limitations of the open-label study included differences in dosing USS compared with the approved regimen and the lack of an untreated group. SPINRAZA is a prescription medicine used to treat spinal muscular atrophy (SMA) in pediatric and adult patients.

WARNINGS Increase ris o bleein comlicaions has been observed after administration of similar medicines. Your Maintaining motor healthcare provider should perform blood tests before you start treatment with SPINRAZA and before each dose function over time Attend a SPINRAZA event to monitor for signs of these risks. Seek medical attention if unexpected bleeding occurs. Increased risk of kidney damage, including potentially fatal acute infl ammation of the kidney, has been Individuals tain I observed after administration of similar medicines. Your healthcare provider should perform urine testing before Visit SPINRAZAevent.com or you start treatment with SPINRAZA and before each dose to monitor for signs of this risk. continued to imrove or maintain call -888-5- to motor function over nearly years, connect with your local M OMMON SID S reardless of their level of function community. The most common side effects of SPINRAZA include lower respiratory infection, fever, constipation, headache, before startin treatment. vomiting, back pain, and post-lumbar puncture syndrome (headache related to the intrathecal procedure). Serious side effects of complete or partial collapse of a lung or lobe of a lung have been reported. Talk to your healthcare provider about any side effect that bothers you or that does not go away.

INDIAION OR INORMAION SPINRAZA is a prescription medicine used to treat spinal muscular atrophy (SMA) in pediatric and adult patients. SPINRAZA is a medication that should be administered as an injection into the lower back (a procedure called IMPORAN SA INORMAION intrathecal injection) by, or under the direction of, an experienced healthcare professional. Increase ris o bleein comlicaions has been observed after administration of similar medicines. Your healthcare provider should perform blood tests before you start treatment with SPINRAZA and before each dose USIONS to monitor for signs of these risks. Seek medical attention if unexpected bleeding occurs. The risk information provided here is not comprehensive. To learn more, talk about SPINRAZA with your healthcare provider or pharmacist. The FDA-approved product labeling can be found at www.spinraza.com or Increased risk of kidney damage, including potentially fatal acute infl ammation of the kidney, has been 1-844-4SPINRAZA (1-844-477-4672). observed after administration of similar medicines. Your healthcare provider should perform urine testing before you start treatment with SPINRAZA and before each dose to monitor for signs of this risk. MANUAURD OR Biogen The most common side effects of SPINRAZA include lower respiratory infection, fever, constipation, headache, Cambridge, MA 02142 revised 05/18 vomiting, back pain, and post-lumbar puncture syndrome. These are not all of the possible side effects of SPINRAZA. Call your healthcare provider for medical advice about side effects. You may report side effects to FDA at 1-800-FDA-1088. or aiional Imoran Sae Inormaion lease see brie smmar of full Prescribing Information on the next page.

This information is not intended to replace discussions with your healthcare provider. © 2018 Biogen. All rights reserved. 9/18 SPZ-US-1682 225 Binney Street, Cambridge, MA 02142

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WHAT COULD SPINRAZA UNLOCK?

Lauren age 20 he fi rst treatment for children and ater-onset ype M adults with sinal muscular atrohy M treated with I

Inivial resls ma var base on several acors inclin severi o isease iniiaion o reamen and duration of therapy. SPINRAZA was evaluated in a well-controlled study of 126 individuals with later-onset (Types 2 and 3) IMPORTANT FACTS ABOUT SPINRAZA® (nusinersen) SMA. The results are supported by an open-label study of 28 individuals with later-onset (Types 2 and 3) SMA, aged 2 to 16 years at fi rst dose. Limitations of the open-label study included differences in dosing USS compared with the approved regimen and the lack of an untreated group. SPINRAZA is a prescription medicine used to treat spinal muscular atrophy (SMA) in pediatric and adult patients.

WARNINGS Increase ris o bleein comlicaions has been observed after administration of similar medicines. Your Maintaining motor healthcare provider should perform blood tests before you start treatment with SPINRAZA and before each dose function over time Attend a SPINRAZA event to monitor for signs of these risks. Seek medical attention if unexpected bleeding occurs. Increased risk of kidney damage, including potentially fatal acute infl ammation of the kidney, has been Individuals tain I observed after administration of similar medicines. Your healthcare provider should perform urine testing before Visit SPINRAZAevent.com or you start treatment with SPINRAZA and before each dose to monitor for signs of this risk. continued to imrove or maintain call -888-5- to motor function over nearly years, connect with your local M OMMON SID S reardless of their level of function community. The most common side effects of SPINRAZA include lower respiratory infection, fever, constipation, headache, before startin treatment. vomiting, back pain, and post-lumbar puncture syndrome (headache related to the intrathecal procedure). Serious side effects of complete or partial collapse of a lung or lobe of a lung have been reported. Talk to your healthcare provider about any side effect that bothers you or that does not go away.

INDIAION OR INORMAION SPINRAZA is a prescription medicine used to treat spinal muscular atrophy (SMA) in pediatric and adult patients. SPINRAZA is a medication that should be administered as an injection into the lower back (a procedure called IMPORAN SA INORMAION intrathecal injection) by, or under the direction of, an experienced healthcare professional. Increase ris o bleein comlicaions has been observed after administration of similar medicines. Your healthcare provider should perform blood tests before you start treatment with SPINRAZA and before each dose USIONS to monitor for signs of these risks. Seek medical attention if unexpected bleeding occurs. The risk information provided here is not comprehensive. To learn more, talk about SPINRAZA with your healthcare provider or pharmacist. The FDA-approved product labeling can be found at www.spinraza.com or Increased risk of kidney damage, including potentially fatal acute infl ammation of the kidney, has been 1-844-4SPINRAZA (1-844-477-4672). observed after administration of similar medicines. Your healthcare provider should perform urine testing before you start treatment with SPINRAZA and before each dose to monitor for signs of this risk. MANUAURD OR Biogen The most common side effects of SPINRAZA include lower respiratory infection, fever, constipation, headache, Cambridge, MA 02142 revised 05/18 vomiting, back pain, and post-lumbar puncture syndrome. These are not all of the possible side effects of SPINRAZA. Call your healthcare provider for medical advice about side effects. You may report side effects to FDA at 1-800-FDA-1088. or aiional Imoran Sae Inormaion lease see brie smmar of full Prescribing Information on the next page.

This information is not intended to replace discussions with your healthcare provider. © 2018 Biogen. All rights reserved. 9/18 SPZ-US-1682 225 Binney Street, Cambridge, MA 02142

SPCO18CDNY5445_JournalAd_MDA_Updt_r2_FSU.indd 1 9/11/18 7:44 PM ACCESS MDA NEWS AND UPDATES FROM THE MDA COMMUNITY Keep It Simple An MDA Team Momentum veteran shares his secrets for fundraising success Boston resident Colin Batty joined MDA Team Momentum as a way to honor his relatives living with Charcot-Marie-Tooth disease (CMT). His mother’s side of the family — including his mom, aunts and uncles — all have a form of the condition. A group fitness instructor, Batty has run the Boston Marathon twice with Team Momentum, raising nearly $23,000 to date, and in 2018 he received the CITGO Fueling Good Award. He found the greatest fundraising success by keeping the process simple. “No event is too small,” Batty says. “You don’t have to host a big, grandiose event. My most successful events were renting out a room at a local tavern, inviting friends out and raffling off prizes, and also splitting profits at my family’s local IAFF Legion Hall’s bingo night.” Batty credits the supportive MDA Team Momentum staff with helping make the process manageable. “They really prepare you for success, from fundraising to training,” Batty says. “You don’t have to go it alone.”

Learn how MDA Team Momentum gets you beyond the finish line at mdateam.org. MDA also provides tools to support fundraisers of all Colin Batty running for Team Momentum. kinds, from bowling parties to bake sales, at mda.org/yourway. Serving the Community Since 1979 Products Answers Fun Abilities Expo Checks All the Boxes: Latest products and services Access to community experts Informative workshops Tools for seniors Adaptive sports FREE ADMISSION Inclusive dance Assistance animals Fun activities for kids of all ages

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Quest.indd 1 8/22/18 12:39 PM ADVERTISEMENT INDICATION & IMPORTANT SAFETY INFORMATION FOR EMFLAZA® (deflazacort) INDICATION & IMPORTANT SAFETY INFORMATION FOR EMFLAZA® (deflazacort) INDICATIONINDICATION & &IMPORTANT IMPORTANT SAFETY SAFETY INFORMATION INFORMATION FOR FOR EMFLAZA® EMFLAZA® (deflazacort) (deflazacort) INDICATIONINDICATION & IMPORTANT SAFETY INFORMATION FOR EMFLAZA® (deflazacort) INDICATIONEMFLAZA®INDICATION is indicated for the treatment of Duchenne muscular dystrophy in patients 5 years of age and older. EMFLAZA®INDICATION is indicated for the treatment of Duchenne muscular dystrophy in patients 5 years of age and older. EMFLAZA®EMFLAZA® is isindicated indicated for for the the treatment treatment of ofDuchenne Duchenne muscular muscular dystrophy dystrophy in inpatients patients 5 years5 years of ofage age and and older. older. IMPORTANTEMFLAZA® is SAFETY indicated forINFORMATION the treatment of Duchenne muscular dystrophy in patients 5 years of age and older. IMPORTANT SAFETY INFORMATION IMPORTANTContraindication:IMPORTANT SAFETY SAFETYDo not use INFORMATION INFORMATION if you are allergic to deflazacort or any of the inactive ingredients in EMFLAZA. Contraindication:IMPORTANT SAFETY Do not use INFORMATION if you are allergic to deflazacort or any of the inactive ingredients in EMFLAZA. Contraindication:DoContraindication: not stop taking Do EMFLAZA,Do not not use use if oryouif youchange are are allergic allergicthe amount to to deflazacort deflazacort you are taking,or orany any ofwithout ofthe the inactive inactivefirst checkingingredients ingredients with in inyourEMFLAZA. 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EMFLAZA and Development: may cause Long-term cataracts oruse glaucoma of corticosteroids, and you should including be monitoredEMFLAZA ifmay corticosteroid slow growth and • • InformationEMFLAZA® Information (deflazacort) about about therapy• Ophthalmic development is continued Effects: in children. for EMFLAZA more than may 6 weeks. cause cataracts or glaucoma and you should be monitored if corticosteroid •EMFLAZA® Information (deflazacort) about Call 1-844-4PTCCARES • Ophthalmic • therapyOphthalmic is continuedEffects: Effects: EMFLAZA EMFLAZAfor more maythan may cause 6 cause weeks. cataracts cataracts or or glaucoma glaucoma and and you you should should be be monitored monitored if corticosteroidif corticosteroid EMFLAZA®andEMFLAZA® PTC Cares (deflazacort) (deflazacort) services • Ophthalmic The Effects: administration EMFLAZA of maylive or cause live attenuatedcataracts or vaccines glaucoma is not and recommended. you should be monitoredKilled or inactivated if corticosteroid andEMFLAZA® PTC Cares (deflazacort) services Call 1-844-4PTCCARES • therapyVaccination:therapy is iscontinued continued for for more more than than 6 weeks.6 weeks. andand PTC PTC Cares Cares services services CallCall(1-844-478-2227) 1-844-4PTCCARES 1-844-4PTCCARES vaccines• Vaccination: therapy may is continuedbe The administered, administration for more but than of the live 6responses weeks.or live attenuated cannot be vaccines predicted. is not recommended. 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• •Securing Securing access access to to EMFLAZA EMFLAZA 8 am(1-844-478-2227) - 8to pm speak EST Mondaywith a - Friday • Seriousvaccines Skin may Rashes: be administered, Seek medical but attention the responses at the cannotfirst sign be predicted.of a rash. • Securing access to EMFLAZA 8 8am am - 8- 8pm pm EST EST Monday Monday - Friday- Friday • SeriousDrug • Serious Interactions: Skin Skin Rashes: Rashes: Certain Seek Seek medicationsmedical medical attention attention can cause at atthe thean first interactionfirst sign sign of ofwitha rash.a rash. EMFLAZA. Tell your healthcare provider of to speak with a • Drug Interactions: Certain medications can cause an interaction with EMFLAZA. Tell your healthcare provider of 8PTC am -Caresto 8to pmspeak speak ESTcase with Monday withmanager. a a - Friday all• theSerious medicines Skin Rashes: you are Seek taking, medical including attention over-the-counter at the first medicinessign of a rash. 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Telland/or your special healthcare test(s) provider may be of PTCPTC Cares Cares case case manager. manager. alldietaryall the the medicines medicines supplements, you you are andare taking, taking,herbal including includingproducts. over-the-counter over-the-counterAlternate treatment, medicines medicines dosage (such (such adjustment, as as insulin, insulin, and/or aspirin aspirin special or or other other test(s) NSAIDS), NSAIDS), may be Visit PTCwww.PTCCares.com Cares case manager. neededall the during medicines the treatment. you are taking, including over-the-counter medicines (such as insulin, aspirin or other NSAIDS), Visit www.PTCCares.com dietaryneededdietary supplements, supplements,during the treatment.and and herbal herbal products. products. Alternate Alternate treatment, treatment, dosage dosage adjustment, adjustment, and/or and/or special special test(s) test(s) may may be be VisitVisitfor www.PTCCares.commore www.PTCCares.com information. Commonneededneededdietary duringside during supplements, effects the the treatment. treatment.that and could herbal occur products. with EMFLAZA Alternate include: treatment, Facial dosage puffiness adjustment, or Cushingoid and/or specialappearance, test(s) weightmay be Visitfor morewww.PTCCares.com information. increased,Commonneeded increased side during effects the appetite, treatment. that couldupper occurrespiratory with EMFLAZAtract infection, include: cough, Facial frequent puffiness daytime or Cushingoid urination, unwantedappearance, hair weight forfor more more information. information. Commonincreased,Common side side increased effects effects appetite,that that could could upper occur occur respiratory with with EMFLAZA EMFLAZA tract infection, include: include: Facial cough, Facial puffiness puffinessfrequent daytimeor or Cushingoid Cushingoid urination, appearance, appearance, unwanted weight hair weight for more information. growth,Common central side obesity, effects and that colds. could occur with EMFLAZA include: Facial puffiness or Cushingoid appearance, weight increased,growth,increased, centralincreased increased obesity, appetite, appetite, and uppercolds. upper respiratory respiratory tract tract infection, infection, cough, cough, frequent frequent daytime daytime urination, urination, unwanted unwanted hair hair growth,Pleasegrowth,increased, see central central the increased accompanyingobesity, obesity, andappetite, and colds. colds.full upper Prescribing respiratory Information tract infection, cough, frequent daytime urination, unwanted hair Pleasegrowth, see central the accompanying obesity, and colds. full Prescribing Information For medical information, product complaints, or to report an adverse event, please call 1-866-562-4620 or email at EMFLAZA is indicated for the treatment of Duchenne PleasePlease see see the the accompanying accompanying full full Prescribing Prescribing Information Information [email protected] medical see information,the accompanying. product full complaints, Prescribing or Informationto report an adverse event, please call 1-866-562-4620 or email at muscularEMFLAZA dystrophy is indicated in patients for the 5 treatment years of age of Duchenne and older. ForFor medical medical information, information, product product complaints, complaints, or or to to report report an an adverse adverse event, event, please please call call 1-866-562-4620 1-866-562-4620 or or email email at at EMFLAZAEMFLAZA is isindicated indicated for for the the treatment treatment of of Duchenne Duchenne [email protected]. muscular dystrophy in patients 5 years of age and older. YouFor may medical also report information, adverse. . product events directlycomplaints, to FDA or toat report1-800-FDA-1088 an adverse or event, www.fda.gov/medwatch please call 1-866-562-4620. or email at muscularmuscularEMFLAZA dystrophy dystrophy is indicated in inpatients patients for the 5 treatmentyears5 years of of age ofage andDuchenne and older. older. [email protected]@ptcbio.com Do not use if you are allergic to deflazacort or any of the [email protected] may also report adverse. events directly to FDA at 1-800-FDA-1088 or www.fda.gov/medwatch. inactiveDomuscular not ingredients use dystrophy if you are in EMFLAZA. allergicin patients to deflazacort5 years of age or andany older.of the YouYou may may also also report report adverse adverse events events directly directly to to FDA FDA at at1-800-FDA-1088 1-800-FDA-1088 or or www.fda.gov/medwatch www.fda.gov/medwatch. . DoinactiveDo not not use use ingredients if youif you are are allergic in allergic EMFLAZA. to to deflazacort deflazacort or orany any of ofthe the You may also report adverse events directly to FDA at 1-800-FDA-1088 or www.fda.gov/medwatch. inactiveinactiveDo not ingredients ingredientsuse if you inare inEMFLAZA. allergicEMFLAZA. to deflazacort or any of the PTC Cares™ is a trademark of PTC Therapeutics, Inc. Pleaseinactive see Indicationingredients and in EMFLAZA.Important Safety Information on the Emflaza®PTC Cares is a™ registered is a trademark trademark of PTC of Therapeutics, PTC Therapeutics, Inc. Inc. nextPlease page see and Indication accompanying and Important brief summary. Safety Information on the ©PTC 2018Emflaza®PTC Cares CaresPTC™ Therapeutics,isis™ aisa trademark registereda trademark Inc. oftrademark ofPTCAll PTC Rights Therapeutics, Therapeutics, of Reserved.PTC Therapeutics, Inc. Inc. Inc. PleasenextPlease pagesee see Indication andIndication accompanying and and Important Important brief Safety summary. Safety Information Information on on the the MAT-EMF-0253Emflaza®©Emflaza®PTC 2018 Cares isPTC isa registered ™Therapeutics,a isregistered a trademark trademark trademark Inc. of All PTC Rightsof Therapeutics,ofPTC PTC Reserved.Therapeutics, Therapeutics, Inc. Inc. Inc. nextnextPlease page page seeand and Indication accompanying accompanying and Important brief brief summary. summary. Safety Information on the © 2018MAT-EMF-0253©Emflaza® 2018 PTC PTC Therapeutics, is Therapeutics, a registered Inc. Inc.trademark All All Rights Rights ofReserved. PTCReserved. Therapeutics, Inc. next page and accompanying brief summary. MAT-EMF-0253MAT-EMF-0253© 2018 PTC Therapeutics, Inc. All Rights Reserved. MAT-EMF-0253 ADVERTISEMENT

INDICATION & IMPORTANT SAFETY INFORMATION FOR EMFLAZA® (deflazacort) INDICATION EMFLAZA® is indicated for the treatment of Duchenne muscular dystrophy in patients 5 years of age and older.

IMPORTANT SAFETY INFORMATION Contraindication: Do not use if you are allergic to deflazacort or any of the inactive ingredients in EMFLAZA. Do not stop taking EMFLAZA, or change the amount you are taking, without first checking with your healthcare provider, as there may be a need for gradual dose reduction to decrease the risk of adrenal insufficiency and steroid “withdrawal syndrome”. Acute adrenal insufficiency can occur if corticosteroids are withdrawn abruptly, and can be fatal. A steroid “withdrawal syndrome,” seemingly unrelated to adrenocortical insufficiency, may also occur following YOUR TREATMENT NEEDS abrupt discontinuance of corticosteroids. For patients already taking corticosteroids during times of stress, the ARE OUR PRIORITY dosage may need to be increased. • Hyperglycemia: Corticosteroids can increase blood glucose, worsen pre-existing diabetes, predispose those on PTC Cares™ is a patient support program long-term treatment to diabetes mellitus, and may reduce the effect of anti-diabetic drugs. Monitor blood glucose that provides personalized case management at regular intervals. For patients with hyperglycemia, anti-diabetic treatment should be initiated or adjusted support before your first prescription and accordingly. throughout treatment. • Increased Risk of Infection: Tell your healthcare provider if you have had recent or ongoing infections or if you have recently received a vaccine or are scheduled for a vaccination. Seek medical advice at once should you develop fever or other signs of infection, as some infections can potentially be severe and fatal. Avoid exposure to chickenpox or measles, but if you are exposed, medical advice should be sought without delay. • Alterations in Cardiovascular/Kidney Function: EMFLAZA can cause an increase in blood pressure, salt and water retention, or a decrease in your potassium and calcium levels. If this occurs, dietary salt restriction and potassium supplementation may be needed. • Behavioral and Mood Disturbances: There is a potential for severe behavioral and mood changes with EMFLAZA PTC Cares is and you should seek medical attention if psychiatric symptoms develop. here to help with: • Effects on Bones: There is a risk of osteoporosis or decrease in bone mineral density with prolonged use of EMFLAZA, which can potentially lead to vertebral and long bone fractures. • Benefits investigation support • Effects on Growth and Development: Long-term use of corticosteroids, including EMFLAZA may slow growth and development in children. • Information about • Ophthalmic Effects: EMFLAZA may cause cataracts or glaucoma and you should be monitored if corticosteroid EMFLAZA® (deflazacort) therapy is continued for more than 6 weeks. Call 1-844-4PTCCARES and PTC Cares services • Vaccination: The administration of live or live attenuated vaccines is not recommended. Killed or inactivated (1-844-478-2227) vaccines may be administered, but the responses cannot be predicted. • Securing access to EMFLAZA 8 am - 8 pm EST Monday - Friday • Serious Skin Rashes: Seek medical attention at the first sign of a rash. to speak with a • Drug Interactions: Certain medications can cause an interaction with EMFLAZA. Tell your healthcare provider of PTC Cares case manager. all the medicines you are taking, including over-the-counter medicines (such as insulin, aspirin or other NSAIDS), dietary supplements, and herbal products. Alternate treatment, dosage adjustment, and/or special test(s) may be Visit www.PTCCares.com needed during the treatment. for more information. Common side effects that could occur with EMFLAZA include: Facial puffiness or Cushingoid appearance, weight increased, increased appetite, upper respiratory tract infection, cough, frequent daytime urination, unwanted hair growth, central obesity, and colds. Please see the accompanying full Prescribing Information For medical information, product complaints, or to report an adverse event, please call 1-866-562-4620 or email at EMFLAZA is indicated for the treatment of Duchenne . muscular dystrophy in patients 5 years of age and older. [email protected] You may also report adverse events directly to FDA at 1-800-FDA-1088 or www.fda.gov/medwatch. Do not use if you are allergic to deflazacort or any of the inactive ingredients in EMFLAZA.

PTC Cares™ is a trademark of PTC Therapeutics, Inc. Please see Indication and Important Safety Information on the Emflaza® is a registered trademark of PTC Therapeutics, Inc. next page and accompanying brief summary. © 2018 PTC Therapeutics, Inc. All Rights Reserved. MAT-EMF-0253 EMFLAZA (deflazacort) Alteration in Cardiovascular/Kidney Function: ® EMFLAZA can cause an increase in blood pressure Consumer Brief Summary of the and water retention or a decrease in your potassium FDA-Approved Product Information or calcium levels. If this occurs, dietary salt restriction Initial US Approval: 2017 and potassium supplementation may be needed. Behavioral and Mood Disturbances: There is a What is EMFLAZA? potential for severe behavioral and mood changes EMFLAZA ® is a corticosteroid indicated for the with EMFLAZA and you should seek medical attention treatment of Duchenne muscular dystrophy (DMD) in if psychiatric symptoms develop. patients 5 years of age and older. Effects on Bones: There is a risk of osteoporosis or When should I not use EMFLAZA? decrease in bone mineral density with prolonged use of EMFLAZA, which can potentially lead to vertebral • Do not use if you are allergic to deflazacort or and long bone fractures. any of the inactive ingredients in EMFLAZA Effects on Growth and Development: Long-term What should I tell my healthcare provider before use of corticosteroids, including EMFLAZA may slow taking EMFLAZA? growth and development in children. It is important to tell your healthcare provider if you EMFLAZA may cause cataracts have had recent or ongoing infections, develop Ophthalmic Effects: or glaucoma and you should be monitored if a fever, have recently received a vaccine or are corticosteroid therapy is continued for more than scheduled for a vaccination, or experience any other 6 weeks. side effects. Vaccination: The administration of live or live What warnings should I know about EMFLAZA? attenuated vaccines is not recommended. Killed or Do not stop taking EMFLAZA, or change the inactivated vaccines may be administered, but the amount you are taking, without first checking with responses cannot be predicted. your healthcare provider, as there may be a need Seek medical attention at the for gradual dose reduction to decrease the risk Serious Skin Rashes: first sign of a rash. of adrenal insufficiency and steroid “withdrawal syndrome”. Acute adrenal insufficiency can occur What are the side effects that could occur if corticosteroids are withdrawn abruptly, and with EMFLAZA? can be fatal. A steroid “withdrawal syndrome”, • facial puffiness or Cushingoid appearance seemingly unrelated to adrenocortical insufficiency, • weight increased may also occur following abrupt discontinuance of • increased appetite corticosteroids. • upper respiratory tract infection For patients already taking corticosteroids during • cough times of medical stress, the dosage may need to be • frequent daytime urination increased. • unwanted hair growth • central obesity Cushing’s Syndrome: Cushing’s syndrome • colds occurs with prolonged exposure to exogenous corticosteroids, including EMFLAZA. Symptoms What other medications might interact with include high blood pressure, truncal obesity and EMFLAZA? thinning of the limbs, purple striae, facial rounding, Certain medications can cause an interaction with facial plethora, muscle weakness, easy and frequent EMFLAZA. Tell your healthcare provider of all the bruising with thin fragile skin, posterior neck fat medication you are taking, including over-the-counter deposition, osteopenia, acne, amenorrhea, hirsutism, medicines (such as insulin, aspirin, or other NSAIDS), and psychiatric abnormalities. dietary supplements, and herbal products. Alternate Hyperglycemia: Corticosteroids can increase blood treatment, dosage adjustment, and/or special test(s) glucose, worsen pre-existing diabetes, predispose may be needed during treatment. Do not take those on long-term treatment to diabetes mellitus, EMFLAZA suspension with grapefruit juice. and may reduce the effect of anti-diabetic drugs. Monitor blood glucose at regular intervals. For The information presented is not comprehensive. patients with hyperglycemia, anti-diabetic treatment Talk to your healthcare provider for more should be initiated or adjusted accordingly. information or see www.EMFLAZA.com for the full Increased Risk of Infection: Medical advice should FDA-approved product information. be sought immediately if you develop a fever or other For medical information, product complaints, or to signs of infection as some infections can potentially report an adverse event, please call 1-866-562-4620 be severe and fatal. Avoid exposure to chickenpox or email at [email protected]. or measles, but if you are exposed, medical advice should be sought without delay. You may also report adverse events directly to FDA at 1-800-FDA-1088 or www.fda.gov/medwatch. Patrick Cusick with his family A New Direction MDA Executive Director Patrick Cusick found a new career after his diagnosis

Patrick Cusick, executive direc- tor of the Columbus, Ohio, MDA office, was diagnosed with Becker muscular dystro- phy (BMD) when he was 29. At the time, he was working in sales, and he and his wife were expecting their first child. The diagnosis was diffi- cult for Pat to accept, but it eventually led him to his current career path. Now, Pat is a friend to families facing new diagnoses like his own. “The best thing is meeting parents of boys with Becker,” he says. “I try not to give advice — just share my own experience. Being a grown man who has the same diagnosis and has got a job and is married and has kids … I hope parents think, ‘Maybe it’s not as bad as we thought. Maybe there is another path forward.’” Most of all, he encourages families to support loved ones living with BMD in pursuing their passions. “I coach tackle football and walk with a cane. I can’t physically show [the plays], but I’m good at explaining things that are inter- esting to me,” he says. “Don’t sell yourself or your child short about what you’re able to accomplish.”

Read stories from around the MDA community at strongly.mda.org. ACCESS MDA NEWS AND UPDATES FROM THE MDA COMMUNITY Why I Walk “ I walk for my son James, who received a congenital muscular dystrophy diagnosis at 5 months old. When my husband and I learned about this disease, we were absolutely devastated and scared for what this meant for our future. We came to realize that the most important thing we can do for ourselves and for James is to harness strength and positivity, and do everything that we can The James Gang, one of the highest fundraising MDA Musle Walk teams in the country this year, brought in $30,114 for MDA. The team was formed to support James (sitting front and center with his parents, Molly and Anthony Parisi), who was diagnosed with congenital muscular dystrophy (CMD) do to advocate for him, for this at 5 months old. community and to give James the absolute best life.” —Molly Parisi Find MDA Muscle Walk events and teams at mdamusclewalk.org.

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BY KELLY BERGER

the moment — there’s simply nothing like that connection to music. That post-concert adrenaline high is hard to even put into words. Such a freeing feeling — like I can do and conquer anything — that I wish lasted forever. It makes me forget about the wheelchair and any other annoying daily medical matters and be at one with the music, if only for a couple hours. I remember back in my early teenage years per- sistently bugging my mom to let me go to an alternative rock show, a genre outside PHOTO BY NICKY PARRY BY PHOTO of my normal comfort zone. Kelly Berger loves the hether it’s through and instantly escape. It’s After finally wearing her inclusive atmosphere and behind-the-scenes access of headphones, brought such a healing release down, I went to my first rock music festivals. Wblasting out of the for me to just get lost in a show in 2004. It was an arena van speakers or playing live song, album or entire discog- show with designated ADA right in front of me, music has raphy and forget all the daily accommodations, so I knew been my constant source of struggles or what may come my wheelchair and I would be happiness. down the road. I can also turn safe. I was amazed to see the After years of misdi- to my ever-growing collection sense of community within agnoses, I was recently of ticket stubs, guitar picks, the stadium, the craziness diagnosed with a form of set lists and confetti from the congenital muscular dystro- concerts I’ve attended and get phy called collagen VI (with a lost in the memories, reliving “ There were endless bunch of letters and numbers each one over again in my high fives, fist after it that make me sound mind with the cheesiest grin like a robot). Through the ups plastered on my face. bumps and hugs and downs of medical woes from embracive Share Your Story and lifestyle changes — from LIVING LOUD If you have a “From Where walking to using a wheel- There’s always been something fans. I was hooked, I Sit” story idea, email us chair — the one thing that has about live music that truly and I still have the at [email protected]. consistently put a smile on my captivated me. Seeing a band in You can read more stories face is music in any way, shape action onstage, feeling the bass same feeling of from around the MDA or form. pump through you and kick- excitement every community at strongly. No matter what I faced, I start your heart, singing along mda.org. could press play on my iPod with complete strangers in time I go to a show.”

Quest 50 FALL 2018 or not. Go outside of your nor- “Strangers were mal comfort zone — I promise you, it’s not as terrifying as happy to lend a you’d think. Find a release hand when my that helps put you at ease and allows you to forget all the chair needed hardships. Who knows — you an extra push might just discover your new favorite activity or meet new or clear a path friends with similar interests. when things Whatever the case, pushing ourselves even when got insanely we can’t actually physically cramped.” of crowd-surfers and mosh favorite bands play, interacted push ourselves leads us to pits breaking out, and yet with them and met the most the happiest place of all. everyone was taking care of amazing lifelong friends over I’ve found my happy place each other, still having the the years. I’ve gone now for in music. Q best time. There were endless more than a decade and a half. high fives, fist bumps and I’m also extremely lucky Kelly Berger, 29, lives in hugs from embracive fans. I that my wonderful city of Cin- Cincinnati and freelances in was hooked, and I still have cinnati has Bogart’s, an iconic, social media and public relations. the same feeling of excitement welcoming music venue that She’s an avid music festival every time I go to a show. feels just like home immedi- and concertgoer. Catch her at a I decided to push the ately as you enter. The staff show or follow her journey at boundaries of what I felt com- has always gone above and thekellyberger.com. fortable with at a live music beyond my needs, clearing show. That summer I attended crowds, securing patrons in my first ever VANS Warped the ADA section and assist- Tour. Boy, was I in heaven. ing with drink orders. It’s a I got to get up close and really tight-knit group that I personal with tons of bands can graciously say is like my all at once in a sweaty, action- second “concert” family. packed day. This touring punk rock music festival mainly PURSUING takes place around arenas or HAPPINESS in parking lots and camp- I know it can be scary or over- grounds, making the terrain whelming to get out and find a a challenge for a wheelchair. public venue that you feel con- My biggest fear was navigat- fident in or talk to people about ing the crowd without getting your specific needs. With every trampled or entering a spon- instance, what I was so afraid taneous mosh pit. Again, I of turned out to be easy to was pleasantly surprised by overcome, even if it required a how positively receptive the little help from strangers. And alternative scene was toward to think of all the concerts and me. Strangers were happy to festivals I would have missed lend a hand when my chair had I not ventured out … needed an extra push or Sometimes the biggest clear a path when things got thing holding us back is our insanely cramped. The VANS own fear. I encourage you to Warped Tour was what I break down those walls that looked forward to most every may be keeping you from try- summer. I’ve seen some of my ing something new, wheelchair LASTING IMPRESSION Hog Heaven MDA family celebrates a milestone with Harley-Davidson

n Labor Day weekend, Harley-Davidson and MDA supporters who joined the Top and bottom left: Three generations ride together. Above: Jace and his dad, hit the streets of Milwaukee to celebrate Harley’s 115th event in the spirit of both Ben Dorer. Oanniversary — and the 38-year partnership between Harley’s and MDA’s ideals of the iconic American motorcycle maker and MDA. freedom and independence. More than 6,500 riders and bikes convened for Harley’s One of those heroes was 115th Anniversary Parade on Sept. 2. Within the parade Jace, 5, riding in the side Revved Up was MDA’s Parade of Heroes, a group of MDA families and car of his dad, Ben Dorer’s, Since 1980, Harley- Harley-Davidson Street Glide Davidson riders have motorcycle. Jace, who lives logged thousands of with spinal muscular atrophy miles to raise millions of (SMA), traveled from Michigan dollars for MDA to fuel our to Milwaukee with his family, mission to transform the including his grandfather, who lives of people affected by also rode in the parade. neuromuscular diseases “The most memorable through innovations in thing was riding with my science and care. Find dad and my son and seeing the latest stories about how much fun they both had, our partners’ amazing waving and giving high fives work at strongly.mda. to kids during the parade,” org/fundraising-events/ Dorer says. Q partners.

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