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Labfrom to Pharmacy MDA.ORG/QUEST FALL 2018 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. WWW.BIOGEN.COM ©2017 Biogen. All rights reserved • 12/17 SMA-US-0310 • 225 Binney Street, Cambridge, MA 02142 A WORD FROM MDA FORWARD 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. FOLLOW MDA ON PUBLICATION MANAGEMENT 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 2 Quest FALL 2018 PROVIDING FREEDOM through innovative mobility solutions Wheelchair Accessible Minivans Wheelchair Accessible SUV With a variety of wheelchair-accessible vehicles available, VMI can accommodate almost any wheelchair user. Each one of our solutions offers flexibility, interior space and reliability. Contact VMI to learn more about the industry’s most spacious wheelchair-accessible vehicles. vmivans.com | 855-VMI-VANS SHARING OUR STRENGTH VOICES FROM MDA’S ONLINE COMMUNITY 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 “ My 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,
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