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Keeping Families at the Heart MDA is leading the fight to free individuals — and the families who love them — from the harm of MDA’s Mission of muscular dystrophy, ALS and related life-threatening diseases that take away physical strength, his is a busy and productive time it easier for families to find clinical trials for independence and life. We use for MDA and the families we serve. which they may be eligible. We encourage our collective strength to help kids and adults live longer and The unprecedented approval of you to visit the website to find trials near grow stronger by finding research T three new drugs in six months to treat you and to explore additional resources. breakthroughs across diseases; caring for individuals from day diseases in our program — after many one; and empowering families years of investments with no new drugs National Community Advisory with services and support in hometowns across America. — is proof that this is a time of great Committee: This month, our new momentum in neuromuscular research. 15-member advisory committee will meet Learn how you can fund cures, find care and champion At MDA, we’re building on for the first time in Washington, the cause at mda.org. this progress as we push to do At MDA, we’re D.C. The committee comprises more to help families like yours building on individuals with neuromuscular For advertising opportunities: in hometowns across America. As recent research disease, siblings and parents, who Maureen Tuncer proof of our commitment to keep will share their experiences to Advertising Sales Manager progress as we [email protected] you at the heart of everything we push to do more help inform and guide MDA’s For editorial queries: do, here are some updates on new to help families programs, offerings and direction. Alyssa Quintero initiatives we’re developing for like yours in MDA Public Policy & Marketing Communications you and your family: hometowns Advocacy Conference: On [email protected] across America. April 23-25, individuals and Research grants: MDA families will come together in To update personal information recently awarded 29 new research Washington, D.C., at MDA’s first public and your Quest subscription and development grants with a total policy and advocacy conference, which status, contact your local office at funding commitment of more than will focus on advocating for policies and (800) 572-1717. $7 million — thanks to all our fundraisers programs important to the neuromuscular who worked so hard to raise these dollars disease community. Learn more about how — to support scientists who can unlock you can participate and make your voice Published quarterly by Muscular Dystrophy Association treatments and cures. Dozens of promising heard — even if you’re unable to attend — 222 S. Riverside Plaza, Suite 1500 therapies are underway right now, and we on page 41. Chicago, Illinois 60606 | (800) 572-1717 email: [email protected] will continue to help move these potential Available on the Internet at mda.org/quest ISSN 1087-1578 treatments toward the finish line. Read MDA Summer Camp: MDA Postage paid at Bolingbrook, IL Nonprofit postal permit number 840. “Keeping Up the Momentum” on page 22 Summer Camp kicks off across the to learn more about MDA’s commitment country next month, and our staff and vol- Postmaster: Treat as Standard A Mail Only to finding breakthroughs across all neuro- unteers are gearing up to help provide kids © 2017, Muscular Dystrophy Association. All rights reserved. MDA and QUEST are registered trademarks muscular diseases. with the experience of a lifetime in a bar- of the Muscular Dystrophy Association. The acceptance of advertising in this magazine does MDA Scientific Conference: In rier-free environment where independence not constitute or imply endorsement by MDA of any product or service. MDA accepts no responsibility for March, more than 500 medical and and personal development are valued and any claims made in any advertisement. Quest reserves the right to refuse to accept any advertisement. For scientific leaders working to help drive supported. MDA Summer Camp is a place advertising information, call (866) 775-8568. scientific and therapeutic advances and where kids can truly live unlimited. Read Information contained in Quest may not be reproduced, published, transmitted or distributed in whole or in part discoveries gathered at MDA’s biennial “Summer Strong” on page 52 to learn without prior written consent of MDA. Always consult your professional advisers as to how conference. Experts in the field shared about a young camper who formed lasting medical, legal or financial information in Quest pertains their research and exchanged ideas to bonds with her camp counselors and how to you. MDA assumes no liability for any information in Quest. keep moving the needle for families living her camp family impacts her life. with neuromuscular diseases. Thank you for your continued partner- FOLLOW MDA ON Clinical trial finder tool: We are ship, volunteerism and financial support making it easier for families to participate to make our shared progress possible. PUBLICATION MANAGEMENT in clinical trials, which play a key role in the discovery and development of new treat- Visit mda.org often to learn about ments. MDA’s new clinical trial finder tool at all our programs and how you can GLCDELIVERS.COM mda.org/clinical-trials is designed to make get involved.

Quest MDA.ORG/QUEST 1 Fire fighters with the Wichita Fire Department in Kansas ask the public to Fill the Boot for MDA.

spring 2017 CONTENTS 26

pg 4 DEPARTMENTS pg 42 26 Melissa 04 FILL THE BOOT SHARING OUR GETS PERSONAL STRENGTH Fire fighters and MDA A teenager and young families share their adults share their everyday special connections experiences. to the cause.

06 ACCESSIBLE LIVING MORE ONLINE PROGRESS NOW 50 EDUCATION Read the latest news on FROM WHERE I SIT 30 An injury teaches ESSENTIALS medical research, promising COMFORTS OF HOME Matt Curcio about Navigating the scientific advances and Even small changes can independence. complexities of the clinical trials for MDA make a big difference in home accessibility. educational system diseases. can be difficult. When 52 your child has complex 20 LASTING IMPRESSION 34 needs, it requires even THRIVE 365 An MDA Summer Camper LEASE ON LIFE more knowledge and Being on horseback builds forms lasting bonds with Use these tips and advocacy skills. Learn strength and confidence her counselors. resources to find the essential facts for individuals with accessible rental about IEPs and 504 neuromuscular diseases. housing. plans and how they can FEATURES help you prepare and advocate for the best 40 22 education possible for ACCESS MDA KEEPING UP THE 36 your child in a Quest A brother and sister team MOMENTUM SMILES FOR MILES online exclusive article. up for adventure, a doctor New MDA research Harley-Davidson riders Visit mda.org/quest gets locked up for MDA grants push for more raise money and make and search for and more stories from the progress toward connections at MDA “Education Essentials.”

MDA community. treatments and cures. Ride for Life. MDA-018

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Individuals with neuromuscular diseases are using social media to communicate about their everyday experiences. Speaking Here are some of the voices from MDA’s young adult Up community on Twitter, Instagram and MDA’s Strongly blog.

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Joe Akmakjian, 26, has spinal muscular atrophy (SMA) and is serving his second year as MDA National Ambassador. Here’s one “Through and all we completed MDA’s hike thing he loves about the role: at El Yunque. THERE ARE NO LIMITS! Happy “My travels in 2016 not only introduced me to have helped this queen @greshkalee cross to new places; they introduced me to new that finish line.”#mdapr #liveunlimited faces. As a certified social butterfly, I enjoy anadeliafitness spending time with all different types of people — especially new friends. It was so After years of being strongly.mda.org much fun meeting different members of the disappointed that MDA family.” her favorite dolls and stories didn’t reflect “When I was 5 years her life, Melissa Shang, old, I was diagnosed 13, wrote a book with muscular about a girl like her: a dystrophy. Doctors middle-schooler with told me that by age Charcot-Marie-Tooth 13 I would be in a disease. Here, she wheelchair. I am describes the feeling that sparked the idea: now 21, and I am “For once, I don’t want to be invisible or a completely mobile. In this image, I am climbing side character.” the stairs with my backpack on my back. A simple task, right? Wrong, not for me. … Every Get Connected day I must choose to climb that staircase. I Get and stay connected to MDA by joining us on choose to be the best I can be, to overcome mda.org. Connect with the MDA community on all challenges.” #LiveUnlimited #MDA Facebook (@MDANational), Twitter @mdanews( ) #LGMD Victoria Haire @victoriamaria_8 and Instagram (mda_usa).

Quest 4 SPRING 2017 IS YOUR NEUROMUSCULAR DIAGNOSIS GENETICALLY CONFIRMED? progress now Tracking research updates and breakthroughs that help accelerate treatments and cures across MDA diseases

ALS (amyotrophic lateral sclerosis)

Participate in a Home-Based ALS Trial Trial will assess whether disease progression can be reliably measured at home

Researchers are looking for 220 people with ALS and 30 people who do not have ALS from around the country to participate in the ALS AT HOME (ALS Testing through Home-Based Outcome Measures) study. The aim of the study is to assess whether ALS patients can reliably measure disease progression from home, with the goal of changing the way clinical trials for ALS are performed. The hope is to be able to reduce the number of patients that have to be If it can be shown that patients can reliably measure ALS disease progression from enrolled in a trial in order to reduce the length of the testing pro- home, it would enable those who don’t live near study centers to participate in cess. In addition, if the study shows that individuals with ALS are clinical trials.

Quest 6 SPRING 2017 LIFT YOUR LIFE TOWARD INDEPENDENCE

TM able to reliably measure their disease at home, future trials Battery-powered toilet seat lift could be designed to include • Perfect for those with muscle weakness patients who do not live near a • Standard or mobile models available • Lifts straight up; no forward push study center. During the study, partic- ipants with ALS will actively TM track the progression of their disease from their homes (there are no clinic visits associ- ated with the study) and will fill out intermittent surveys about their experience in the study and their ability to perform daily tasks.

With or without the help Endorsed by Rob Roozeboom (above), of a caregiver, participating member of MDA’s National Task Force on subjects will perform mea- Public Awareness surements on themselves and record data every day for the first three months, and then twice a week for the next six months. Measurements include breathing function, hand strength, muscle quality and activity level. Equipment, as Manual or battery-powered lift well as training in how to use it, • Rehab facility model with power will be provided. height adjustment available To be eligible to partici- • No transfer required! Stand while pate, individuals must be ages directly lifted from wheelchair 18 to 85, own a smart device NEW Standing program provides many physical and (phone, tablet, etc.) with psychological benefits Bluetooth capability, have Battery-powered chair lift continuous internet access at home and meet additional • From sitting to standing in home, office or other eligibility criteria. environment TM • Comfort and style for If you are interested in use anywhere participating, contact study coordinator Kerisa Shel- Ask about our 30-Day return guarantee ton at 602-406-6598, or visit for information and a FREE demo video ClinicalTrials.gov and enter 800-831-8580 NCT03016897 in the search www.stand-aid.com [email protected] box to learn more. YouTube product videos on our website PROGRESS NOW RESEARCH AND CLINICAL TRIAL UPDATES

ALS (amyotrophic lateral sclerosis)

Encouraging Data Reported for Radicava Experimental ALS drug is under FDA review

Osaka-based Mitsubishi Tanabe Pharma has reported encourag- ing 12-month efficacy and safety data for edaravone (brand name Radicava) for the treatment of ALS. The C9ORF72 mutation is the most common genetic cause of ALS known to date. It is present in approximately 40 percent of ALS patients with a family Radicava is thought to work by relieving the effects of oxida- history of ALS and 5 to 10 percent of ALS patients without a family history of tive stress (an imbalance between the production of free radicals the disease. and the ability of the body to counteract or detoxify their harmful effects with antioxidants). Targeting this pathway could potentially preserve motor neuron health, which could in turn C9ORF72 ALS Study keep muscles functional for a longer period of time. Data showed that in the 48-week study, trial participants Seeks Participants who were treated with Radicava in 10- to 14-day cycles for the full 48 weeks experienced significantly less functional loss when Improved understanding of the C9 form of compared with those who received a placebo for the first 24 ALS could lead to development of treatments weeks, as measured by the ALS Functional Rating Scale-Revised (ALSFRS-R). Researchers are looking for people to participate in a research Mitsubishi Tanabe submitted a New Drug Application (NDA) study aimed at better understanding the specific form of ALS to the U.S. Food and Drug Administration (FDA) in June 2016, caused by a mutation in the gene for C9ORF72. seeking approval for Radicava to treat people with ALS. A deci- It’s hoped that the in-depth study of patients with the sion on the NDA is expected by June 16, 2017. C9ORF72 mutation will ultimately help in the development of treatments for this common form of ALS. To read about MDA’s current ALS-related research Trial participants will have as many as nine in-person visits and efforts visit mda.org/gaag. five telephone interviews over a period of three years. For those who live near the trial sites, each in-person visit may be tied to a regular clinic visit. For those who live out of town, one initial visit can be set up with all other visits performed via a telephone call and medical records review. Investigators will assess clinical data to determine rates of disease progression and whether they correlate with the length of the DNA expansion in C9ORF72. Blood and optional cerebral spinal fluid samples that are collected also will be analyzed along with clinical measures. Participants must be age 18 or older, have ALS with a confirmed C9ORF72 mutation and meet other eligibility requirements.

If you are interested in participating, call 314-362-6159 or email [email protected]. Visit

ClinicalTrials.gov and enter NCT02686268 in the search box If it receives FDA approval, Radicava would be the first drug approved to treat ALS to learn more. in the U.S. in more than 20 years.

Quest 8 SPRING 2017 Congenital myasthenic syndromes (CMS) CMS Study Seeks Participants Trial will assess whether amifampridine phosphate may be an effective treatment

Researchers are looking for people with CMS to participate in a not been genetically confirmed will have genetic testing done at phase 3 study, being conducted by Catalyst Pharmaceuticals, to screening, and additional eligibility criteria will be reviewed with test the experimental drug amifampridine phosphate. each patient’s physician. A potassium channel inhibitor, amifampridine phosphate is Trial sites are located in California, Georgia, Maryland, Massa- designed to cause greater stimulation of muscle by prolonging chusetts and Ohio. Travel-related costs will be provided for those nerve signals and is expected to help treat muscle weakness in who are willing to travel. people with CMS. MDA has supported the development of amifampridine phos- Study participants will receive an initial evaluation and several phate for children with CMS. clinical exams and, after study completion, will be eligible for an expanded access program in which they will be able to continue to For additional information, visit ClinicalTrials.gov receive treatment with the drug. and enter NCT02562066 in the search box. If you are Participants may be male or female, age 2 or older, with a interested in participating in the study, call 844-347-3277 or genetically confirmed CMS mutation. Those whose CMS has email [email protected].

Duchenne muscular dystrophy (DMD) FDA Approves Emflaza A corticosteroid, Emflaza could preserve strength in people with DMD

In February, the U.S. Food and Drug Administration (FDA) approved Marathon Pharmaceuticals’ new drug applications for Both kids and deflazacort (brand name Emflaza) to treat DMD in individuals age adults with DMD may benefit from 5 or older, regardless of mutation. treatment with Emflaza, a corticosteroid, works as an anti-inflammatory and Emflaza. immunosuppressant. Treatment with Emflaza will not cure DMD, but in studies the drug has been shown to slow the loss of muscle strength and function, preserve cardiac and respiratory function, and reduce the incidence of scoliosis (curvature of the spine) in MDA has a long history of supporting research and clinical people with the disease. Importantly, the unwanted side effects study into the effects of corticosteroids, including Emflaza, on often experienced with corticosteroids, such as weight gain, DMD, with studies to determine drug effects, mechanism of action, loss of bone mass, glucose intolerance (diabetes) and behavioral side effects and best dosing regimen. issues, may be less severe with Emflaza as compared to At press time, Marathon announced it had reached an agree- other steroids. ment for PTC Therapeutics to acquire and commercialize Emflaza. FDA approval of the two new drug applications, one for an There was no word on how soon PTC — which is developing immediate-release tablet form of the treatment and one for an another drug, Translarna, for DMD — will make Emflaza available or oral-suspension (syrup) formulation, will now allow widespread what the drug will cost. access to Emflaza for kids and adults with DMD across the United States and make the drug among the first FDA-approved treat- To find out more, visit emflaza.com, and read MDA’s ments for DMD. Strongly blog post at strongly.mda.org/deflazacort.

Quest MDA.ORG/QUEST 9 PROGRESS NOW RESEARCH AND CLINICAL TRIAL UPDATES

Duchenne muscular dystrophy (DMD) Participants Sought for SIDEROS Trial Study will assess the effects of Raxone on respiratory function Researchers are looking for boys and men age 10 or older with DMD to partic- ipate in a phase 3 clinical trial. The study, called SIDEROS, is designed to help researchers determine the safety and efficacy of idebenone (brand name Raxone), an experimental drug in development to treat DMD by Santhera Pharmaceuticals. SIDEROS will assess whether Raxone, which scientists hypothesize may work by improving the way muscles utilize fuel to power movement, will slow decline in respiratory function. Study participants will be assigned randomly to groups that will receive either Raxone or placebo. After completing the study, all participants will Lung function tests will be used to determine changes in lung capacity. have the opportunity to enroll in an open-label extension study in which everyone will receive treatment with the drug. The study will last 22 months, and during that time participants will be required to make nine clinic visits at three-month intervals. These ENVISION visits will include a series of lung function tests to THE possibiliTiEs determine changes in lung capacity. Trial sites are located in Alabama, Arizona, Arkansas, Florida, Indiana, Kansas, Maryland, Minnesota, Pennsylvania, Tennessee and Utah, with additional sites expected to open soon. Assistance is available for travel and hotel accommodations.

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Facioscapulohumeral muscular dystrophy (FSHD) Participants Sought for FSHD Study Study will evaluate the safety, tolerability and efficacy of ACE-083

Researchers are looking for people treatment with the drug increases muscle size, strength with FSHD to participate in a phase and function. 2 clinical trial, being conducted by Travel expenses for mileage, tolls and parking will be covered. Acceleron Pharma, to evaluate the Depending on distance to the site, participants also may be cov- safety, tolerability and efficacy of ered for overnight hotel stays. ACE-083. Participants must be age 18 or older, have genetically confirmed Administered via intramuscular FSHD, or have a clinical diagnosis of FSHD and a first-degree rela- injection, ACE-083 is designed to tive with genetically confirmed FSHD, and meet additional criteria. increase muscle size and strength MDA is not involved with this trial but has supported foun- specifically in the muscles into dational research in FSHD with an investment since inception of Acceleron is developing ACE-083 which the drug is administered. more than $22 million. for diseases like FSHD, in which improved muscle strength in The study will take place in a specific set of muscles may two parts, the first of which is a For additional information, including complete eligibility provide clinical benefit. dose-escalation study to evaluate criteria, visit ClinicalTrials.gov and enter NCT02927080 the safety and tolerability of ACE-083 in up to 36 FSHD patients. in the search box. If you are interested in participating in the In the second part of the study, investigators will assess whether study, email [email protected]. Friedreich’s ataxia (FA)

Disappointing Results in Horizon will continue to analyze trial data that could help inform future STEADFAST research efforts. Trial Treatment with Actimmune was not associated progression, as measured by a functional rating scale assessing with any clinical benefit capacities such as speech, ability to swallow, upper and lower limb coordination, gait and posture. However, results after 26 weeks Results from the STEADFAST phase 3 clinical trial in FA failed did not demonstrate a statistically significant change from baseline to show that the drug interferon gamma-1b (brand name between those who received the drug and those who did not. No Actimmune) was effective as assessed by any of the study’s new safety findings were identified. disease measurements. Based on the trial results, Horizon has decided to discontinue Actimmune, which was under development by Horizon Pharma, further development of Actimmune for FA. is a biologically manufactured protein similar to one the body makes naturally to help prevent infection. To read about MDA’s current FA-related research efforts The study tested whether Actimmune would slow disease visit mda.org/gaag.

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Lambert-Eaton myasthenic syndrome (LEMS) FirST-4-LEMS Study Seeks Participants Trial will test effectiveness of amifampridine phosphate in controlling, reducing and/or eliminating symptoms of LEMS

Researchers are looking for people with prolong signals released from nerves and allow greater stimulation LEMS to participate in a phase 3 of muscles. Participants will have 24/7 clinical trial, being conducted by The study, which will last at least five and up to 12 days, will eval- access to expert medical care for the duration of the study. Catalyst Pharmaceuticals, to uate the effects of withdrawing amifampridine phosphate treatment test the investigational drug from people with LEMS who currently are taking the drug. amifampridine phosphate. Trial sites are located in Miami and Los Angeles. All treatment The Firdapse Strength and participation costs (travel, hotel, meals, etc.) are covered. Trial for LEMS, or FirST-4- Participants must be age 18 or older, have a confirmed diagno- LEMS, study is designed to sis of LEMS, currently be receiving treatment with amifampridine evaluate the effectiveness phosphate and meet additional criteria. of the drug in controlling, reducing and/or eliminating For additional information on this trial, including com- LEMS symptoms. plete eligibility criteria, visit ClinicalTrials.gov and enter Amifampridine phosphate is a NCT02970162 in the search box. If you are interested in partici- potassium channel inhibitor designed to pating in the study, call 844-347-3277.

Limb-girdle muscular dystrophy (LGMD) Resolaris Granted

Fast Track Resolaris is derived from a naturally occurring protein Designation released by human skeletal Fast Track process facilitates development and expedites review muscle cells.

The U.S. Food and Drug Administration (FDA) has granted Fast safety profile as well as encouraging signs that it may have positive Track designation to aTyr Pharma’s experimental drug Resolaris for effects on muscle function. the treatment of LGMD2B. Fast Track designation is granted by the FDA to facilitate devel- Resolaris, which also is being developed to treat facioscapulo- opment and accelerate the regulatory review process. It may be humeral muscular dystrophy, is derived from a naturally occurring granted when a treatment would affect a serious condition where protein released by human skeletal muscle cells. It potentially there is an unmet medical need, as with LGMD2B. may provide therapeutic benefit to people affected by rare MDA has funded research on the role of dysferlin mutations myopathies with excessive immune cell involvement — includ- in LGMD2B and other neuromuscular disorders since the ing LGMD2B patients, who experience progressive debilitating late 1990s. muscle weakness and atrophy as well as immune cell invasion in the skeletal muscle. To learn more about Fast Track designation, visit https:// In early-stage tests, the drug has demonstrated a favorable fda.gov/ForPatients/Approvals/Fast/ucm405399.htm.

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Myasthenia gravis (MG) REVIEW Soliris is not currently approved in any country for Alexion Seeks FDA Approval the treatment of refractory MG, but it is of Soliris to Treat MG approved in the United States, European Union, Study results have demonstrated clinically meaningful Japan and other improvements in patients treated with Soliris countries for the treatment of other conditions. Alexion Pharmaceuticals has submitted a marketing application to the U.S. Food and Drug Administration (FDA) for the investiga- patients with refractory generalized MG and demonstrated clin- tional drug eculizumab (brand name Soliris) to treat people with ically meaningful improvements for several measures in patients refractory generalized MG. treated with Soliris compared with those who received a placebo. A terminal complement inhibitor, Soliris is thought to work in If approved, Soliris could address a significant unmet need MG by inhibiting the complement pathway to prevent destruction for patients with refractory generalized MG who have largely of the neuromuscular junction. exhausted conventional therapy. Refractory generalized MG occurs in a subset of MG patients. Although MDA was not involved in the development and It causes muscle weakness in the head, neck, trunk, limb and testing of Soliris, it has invested in previous research investigating respiratory muscles and does not respond to treatments that are complement inhibition as a therapeutic strategy for MG. typically helpful in other patients. Alexion’s marketing application is supported by comprehen- To learn more about Alexion Pharmaceuticals’ sive data from the phase 3 REGAIN study, which tested Soliris in development of Soliris to treat MG, visit alexion.com.

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PROGRESS NOW RESEARCH AND CLINICAL TRIAL UPDATES

Myotonic dystrophy (DM) MDA announced the award of a clinical research network grant totaling $918,000 over three years to spur advances in DM research. This investment, which provides continued support for the Myotonic Dystrophy Clinical Research Network, will support five medical Nearly $1 Million in MDA centers that specialize in DM research and clinical care. The network is led by Charles Thornton, professor of neu- Funding for DM Research rology at the University of Rochester, who serves as its overall director. It was started, Thornton noted, to pave the way for Award allows the Myotonic Dystrophy testing new treatments in people. Clinical Research Network to continue its Established in 2013 and supported by funding from MDA and specialized work other patient advocacy groups, the National Institutes of Health (NIH) and pharmaceutical company Biogen, the network’s goals are to gain a more detailed understanding of the DM disease process and to collect data needed for clinical trials in order to inform what outcome measures, biomarkers and endpoints will be most appropriate. All of the researchers in the network have free and unre- stricted access to data generated at all of the sites. In addition, the network is committed to making access to study results broadly available to both academic and industry researchers in the United Network researchers already have been responsible for critical clinical research in DM States and around the world. in the United States, and through combined efforts they have standardized equipment and procedures (for measuring myotonic and muscle strength, and for obtaining blood and biopsy samples) across all sites. To learn more, read strongly.mda.org/crng. Myotonic dystrophy (DM) Spinal muscular atrophy (SMA) IONIS-DMPK-2.5Rx Program Discontinued Ionis and Biogen plan to move ahead with new ‘LICA’ technology

Ionis Pharmaceuticals reported that analysis from its com- pleted phase 1-2 clinical trial of IONIS-DMPK-2.5Rx, an experimental compound for the treatment of DM1, showed mixed results. In DM1, a mutation in the DMPK gene leads to the pro- duction of toxic RNA (genetic material made from DNA) that If it proves successful, the new approach could be combined with nusinersen (brand name Spinraza), a drug developed by Ionis Pharmaceuticals and Biogen and approved accumulates inside muscle and other cells. IONIS-DMPK-2.5Rx in December by the FDA to treat SMA, to boost the effectiveness of that therapy. is an antisense oligonucleotide, designed to bind and reduce levels of the toxic RNA. Although trial results showed encouraging trends in Antisense biomarker and splicing changes, the drug did not achieve the concentration levels in muscle needed for it to have an effect Approach Holds in treating the disease. Following these results, Ionis decided not to advance its IONIS-DMPK-2.5Rx program. With partner Biogen, the Promise Study reveals potential new strategy to Overall, the study provided a much better treat SMA understanding of how future clinical trials and improved clinical endpoints may be used. Encouraging results from an MDA-supported study, conducted in collaboration with Ionis Pharmaceuticals, have revealed a poten- tial new strategy to treat SMA. Study investigators identified a long non-coding RNA (lncRNA) present in human nerve cells, called motor neurons, that are affected in SMA. (RNA is the chemical step between DNA and protein manufacturing.) The naturally occurring lncRNA is a special type of RNA that does not encode for protein. Investigators determined that the lncRNA represses production of the needed SMN protein (deficient in SMA) by inhibiting transcription of the SMN2 backup gene. Working with Ionis Pharmaceuticals, they developed a strand of modi- company is now working on new technology called LICA fied DNA, called an antisense oligonucleotide, that binds to (Ligand-Conjugated Antisense) in an effort to increase and blocks the lncRNA, and showed it could increase SMN potency for future DM1 drugs. The LICA technology enhances protein production. distribution to skeletal and heart muscles. The work, funded by an MDA development grant and MDA has supported much of the foundational research co-funded by the American Association of Neuromuscular that led to understanding the underlying molecular cause & Electrodiagnostic Medicine Foundation for Research and of DM1, paving the way toward the development of anti- Education, may lead to the development of a new treatment that sense-based and other therapeutic strategies. could be useful by itself or in combination with other therapies in development for SMA. To read about MDA’s current DM-related research efforts, visit mda.org/gaag. To read more, see strongly.mda.org/smatreatment.

Quest MDA.ORG/QUEST 19 THRIVE 365 HEALTH, WELLNESS AND INDEPENDENT LIVING Riding High in the Saddle Being on horseback builds strength and confidence for individuals with neuromuscular diseases

BY BARBARA & JIM TWARDOWSKI, RN

ierra, a typical benefits of being on horseback International (PATH Inter- 12-year-old, enjoys from hippotherapy or adaptive national) recognizes 866 K reading The Hunger riding (also known as thera- member centers. Games, making silly faces to peutic riding). Both involve Equine-centered activi- annoy her parents and riding riding horses, but they have ties are beneficial for a range horses. She rode for the first significant differences: of disabilities, including time at age 6. “I was afraid neuromuscular disorders, the horse would fall over. It’s Hippotherapy is a med- developmental delays, sensory kind of scary when you get on ical treatment strategy processing disorders, genetic top of something that’s five performed one on one by a syndromes and Autism spec- feet taller than you are,” says licensed physical therapist, trum disorder. Kierra, who has Ullrich myop- occupational therapist or Typically, the first hip- athy (a form of congenital speech therapist. The service potherapy or adaptive riding muscular dystrophy) and uses is billable through medical session involves assessing a power wheelchair. insurance but not covered by an individual’s balance, Kierra’s fears quickly all provider plans. Like all coordination and physical disappeared, and she’s been therapy sessions, there is an limitations. The staff will enjoying adaptive riding for individualized care plan and then choose what equipment the past six years. “When you periodic progress evaluation and horse is required. Hel- Kierra, MDA Ambassador for North go fast on the horse you don’t to determine the need for mets should always be worn, Carolina, has been enjoying adaptive feel like you’re sitting down; ongoing service. The Ameri- and some riders use specially riding for six years. you feel like you’re running,” can Hippotherapy Association adapted saddles. she says. (AHA) facilitates research on The steady clip clop of hippotherapy and provides GAINING STRENGTH a horse’s gait is remarkably training for therapists. AND CONFIDENCE similar to a human walking Twelve-year-old Gregory, pattern: rhythmic, consistent Adaptive riding is a recre- who has Duchenne muscu- and predictable. The repeti- ational activity that teaches lar dystrophy (DMD), has tive nature of this movement horseback riding skills for participated in adaptive riding allows riders to practice and people with complex physical for four years. He rides a refine their balance responses. needs. A certified adaptive pony that is 14 hands high (4 This can lead to improved core riding instructor works feet, 9 inches). A Velcro belt stability and postural control. with individuals or groups. is wrapped around his waist Payment for adaptive riding to secure him to the saddle. TWO WAYS TO RIDE is an individual’s responsibil- A volunteer leads his horse, More Online No piece of equipment can ity, although many nonprofit while a sidewalker follows For an extended version duplicate the movement of a facilities offer scholarships. on his left and an instructor of this article, go to horse. Individuals with neuro- The Professional Association on his right. Gregory loves mda.org/quest. muscular diseases can get the of Therapeutic Horsemanship being out of his wheelchair

Quest 20 SPRING 2017 and up high. His lessons are riding with giving her the Grayson, pictured doing his favorite exercise at age 4, conducted along trails, and confidence she needs to live considers hippotherapy more he often spots deer, foxes and beyond her physical limita- play than work. red-tailed hawks. tions and reach out to others “Gregory has limited trunk as MDA Ambassador for control and is very capable North Carolina. of steering his horse on his own,” says Laurie Kelley, MAXIMIZING who is a PATH International- MOBILITY certified instructor. “Sitting When Grayson, who has on the horse helps Gregory DMD, began hippotherapy work his core and upper body at the age of 4, he was unable because he has to maintain to hold himself upright. He his balance. Riding is not progressed to sitting and just physically beneficial; it’s doing standing exercises on a empowering for Gregory to horse. His occupational ther- manage a 950-pound animal.” apist, Linda Frease, explains Kierra also has felt that the goal of hippotherapy was him remain ambulatory much empowerment and freedom. to keep him “as mobile as longer than is typical for his During her six years of possible for as long as possi- progressive disease. riding, she has built positive, ble.” Grayson, now 14, only Frease explains that self-affirming relationships recently began using a power Grayson’s therapy involved with the staff and animals she wheelchair, and he credits exercises focused on improv- sees every week. She credits hippotherapy with helping ing his postural stability, core strength and endurance. But to Grayson, it felt more THREE STEPS TO GETTING like play than exercise. This ON A HORSE is a common feeling among 1. Consult with your MDA Care Center physician and kids who participate in hip- medical team to determine if hippotherapy or adap- potherapy or adaptive riding. tive riding is appropriate. Parents and therapists report that the time the kids spend 2. Find a facility within a reasonable distance of your on horseback is time when home. Visit the American Hippotherapy Association they get to feel just like any (americanhippotherapyassociation.org) and the other kid. Professional Association of Therapeutic Horseman- However, equine activities ship International (pathintl.org) to locate therapists, are not just for kids. Grown- instructors and facilities in your state. ups can reap the benefits, too. Frease works with adults who 3. Meet with a therapist or instructor to discuss your have mobility limitations due goals. Ask questions such as: to a number of conditions. Her • What certifications has the individual or oldest client is 92 years old. Q facility earned? • Is the service being provided considered Barbara Twardowski has A Rider’s hippotherapy or adaptive riding? Charcot-Marie-Tooth dis- Experience • What type of documents are required to begin? ease (CMT) and uses a power A woman with Friedreich’s • How long is a typical session? wheelchair. Jim, her husband, ataxia (FA) thought her • Are sessions conducted indoors or out? What is a registered nurse. Both have riding days were over. Read happens when weather conditions are poor? degrees in journalism. They live “Not Just Horsing Around” • What safety precautions are in place? in Louisiana and write about at mda.org/quest to learn • What equipment is required? accessible travel, health and about her experience with lifestyle, and related issues. therapeutic riding.

Quest MDA.ORG/QUEST 21 KEEPING UP THE

Following the approval of three drugs in six months, new MDA grants push for more progress

What are the effects of steroids on muscle repair in patients with Duchenne muscular dystrophy (DMD)? How can gene therapy impact people with Charcot- Marie-Tooth disease (CMT)? Will identifying biomarkers wcut down on the need for muscle biopsies for those with myotonic dystrophy (DM)? These are some of the pressing questions researchers in the neuromuscular disease field are asking — and MDA is providing support to help them find answers. Our latest efforts include the award of 29 new research and development grants to support scientists working to bring treatments and cures to MDA families.

Quest 22 SPRING 2017 MDA’s research program approximately 15 percent has scored some big wins of them — 29 grants with a recently, with three drugs total funding commitment of that can trace their origins to more than $7 million. Here MDA research grants having are some highlights: received FDA approval. In • Mattia Quattrocelli, at September, the U.S. Food and the Center for Genetic Drug Administration (FDA) Medicine, Northwestern approved Exondys 51 for the University – Chicago, was treatment of some forms of awarded an MDA devel- DMD. In December, Spin- opment grant totaling raza was approved to treat $180,000 over three years kids and adults with spinal to study the effects of muscular atrophy (SMA). glucocorticoids on muscle And in February, the FDA repair and regeneration in approved Emflaza to treat DMD. The work, co-funded DMD, regardless of the by the American Associa- genetic mutation underlying tion of Neuromuscular & the disease. Electrodiagnostic Medicine That’s why we are so opti- Foundation for Research • Kleopas Kleopa, profes- mistic about this new round of and Education, is expected sor and senior consulting funding — because we know to help improve gluco- neurologist at the Cyprus that any project could lead corticoid-based treatment Institute of Neurology and to the development of a drug strategies in DMD. Genetics, Cyprus School that will go on, like the three of Molecular Medicine, we’ve seen in recent months, • James Novak, postdoc- in Nicosia, Cyprus, was to become available treatment toral associate at Children’s awarded an MDA research options for families. Research Institute, Chil- grant totaling $119,999 dren’s National Health over a period of two years to TOWARD System in Washington, test whether gene therapy TREATMENTS D.C., was awarded an MDA treatment after disease onset AND CURES development grant totaling could lead to functional Making up MDA’s Winter $180,000 over three years to improvements in CMT1X, 2017 grant cycle, the new examine why exon skipping the second most common awards are part of MDA’s drugs are most effective at form of CMT. The grant commitment to double getting to muscles that are is co-funded by the CMT research spending on drug actively undergoing repair. Association. (See “Running development and clinical trials The work, co-funded by for Research” to learn more by 2020 as we work to make the Hearst Foundation, is about this study.) treatment options available expected to help optimize Follow the Money for all the diseases in our the effectiveness of exon • Henry Kaminski, Meta A. Do you wonder how program. skipping therapies in DMD. Neumann Professor and MDA decides how to Some of the new awards are Chair of the department award grants and which co-funded by MDA and other of neurology at George research to fund? Find organizations, and reflect our Washington University answers to these and efforts to strengthen partner- in Washington, D.C., was other questions about ships and work together on awarded an MDA research our grants program by shared goals. grant totaling $367,187 searching for “MDA For this latest round of over three years to test a Grants Work to Find awards, MDA reviewed 187 therapeutic strategy in cell Breakthroughs Across applications and had sufficient and rat models of myasthe- Diseases” at strongly. funds to approve funding for nia gravis (MG), with the mda.org.

Quest MDA.ORG/QUEST 23 intent to demonstrate the an MDA research grant dystrophy and other neuro- Learn More feasibility of the approach totaling $330,000 over three muscular disorders. For more information on and then move to human years to develop biomarkers At MDA, we know that all the new grants, check clinical trials. in blood or urine that will successes like the approvals out MDA’s Grants at a reduce the need for muscle of Exondys 51, Spinraza and Glance at mda.org/gaag. • Thurman Wheeler, at biopsies to measure dis- Emflaza are the result of a Massachusetts General Hos- ease progression and drug number of different contribu- pital in Boston, was awarded effectiveness in myotonic tions that come together at just the right time and in just the right way. RUNNING FOR RESEARCH All of the new grants have MDA supporters help fund research, such as a new study examining gene therapy in CMT the potential to lead to break- throughs that will improve When Colin Batty takes his mark at the with production of normal protein in the lives of the individuals and Boston Marathon this month, he’ll be run- nerves and improvement of peripheral families we serve. ning toward real progress for his 40-plus nerve health and motor performance. MDA’s current research family members who live with Charcot- Kleopa’s new work will advance and commitment totals more than Marie-Tooth disease (CMT). The funds expand on this approach as his team 150 research projects around he is raising as a member of MDA’s Team examines whether repeated injections can the world, each of these a step Momentum help make grants like the ones lead to increased protein levels and tests forward toward treatments we announced in March possible. whether treatment at later stages of the and cures. disease can lead to improvement similar to that seen for treatment in the early stages. SUPPORTING The new study illustrates MDA’s big- GROUNDBREAKING picture approach to neuromuscular dis- SCIENCE ease research, in which breakthroughs in As an umbrella organization, one disease area are expected to inform MDA is harnessing the power advances in others. of a big-picture approach in “We hope that this study will facilitate our search to find the break- Kleopas Kleopa (right) and researcher further investigation into the potential throughs that will lead to Batty’s miles will directly support of gene therapy for inherited neuropa- treatments and cures. researchers like Kleopas Kleopa, professor thies and other neuromuscular diseases,” We support the world’s and senior consulting neurologist at the Kleopa said. best scientists who are Cyprus Institute of Neurology and Genet- The new grant was approved by MDA’s working on the best sci- ics, Cyprus School of Molecular Medicine, Board of Directors following careful delib- ence — research that has the in Nicosia, Cyprus, who is investigating erations and analysis by MDA’s Research potential to make an impact a gene therapy approach in CMT1X, the Advisory Committee, through which lead- across the boundaries of all second most common form of CMT. ing clinicians and scientists in volunteer the diseases in our program. Co-funded with the Charcot-Marie- roles oversee the peer-review process. With research investments Tooth Association, the grant is the first Research like Kleopa’s wouldn’t be pos- totaling more than $1 billion under a partnership formed in 2016 that sible without the support of MDA families over the last six decades, aims to advance CMT research, therapy and event participants, as well as partners MDA’s fingerprints are on development and clinical care, and increase and supporters who participate in, orga- nearly every major advance understanding about the disease by improv- nize and donate to community fundraising in neuromuscular disease ing education for kids and adults affected by programs such as MDA Muscle Walk, Fill research, and with these new CMT, medical professionals and the public. the Boot and MDA Team Momentum. awards we are continuing With previous MDA support, Kleopa MDA has funded more than $36 million to fund the science that will and colleagues pioneered a gene therapy in CMT research since 1950 and, including change the neuromuscular approach to treat CMT1X, showing that this most recent award, currently is disease landscape, usher in a single lumbar injection of the gene that funding 16 CMT grants with a total funding progress and make a dif- is mutated in the disease was associated commitment of more than $4.3 million. ference in the lives of our families and loved ones. Q

Quest 24 SPRING 2017 MDA Shamrocks: Symbols of Strength, Independence and Life Thank you to our top 2017 MDA Shamrocks national partners! We are so grateful to these dedicated corporate partners and their caring customers and employees, as well as so many others across the country. Their support helps raise funds for muscular dystrophy research, care and support through the nation’s largest St. Patrick’s Day fundraiser.

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Muscular Dystrophy Association mda.org/shamrocks BY SUSAN JOHNSTON TAYLOR GETS PERSONAL

Fire fighters are among MDA’s most dedicated supporters. These men and women have a special connection to the cause Matt Onyshko had been a proud Jessica says some patients travel from several hours member of the Pittsburgh Fire away to receive the specialized Fighters IAFF Local No. 1 for a care available there. The Pittsburgh fire fighters little more than a year when he was also hold frequent fundraisers diagnosed with ALS (amyotrophic for the Onyshko family, such as charity hockey games, golf lateral sclerosis) at the age of 27. tournaments and CrossFit workouts, to help cover some The former college football player of their other costs. The and father of two continued working couple even appeared on the “Ellen DeGeneres Show” and as a fire fighter for a few more years received a home makeover and but stopped in 2012 due to the a surprise check for $50,000. “That was so much fun, and disease’s progression. He now uses [we made] so many awesome a wheelchair, feeding tube and an memories,” Jessica says of the experience. “Everything in my eyegaze communication device. house was so plain. We pretty much lived in a bachelor pad, Thanks to a “leave bank,” the Fill the Boot fundraising and they made it a home.” Onyshko’s fellow fire fighters campaign. In some cases, like have worked his shifts for the fire fighters at Pittsburgh the past five years so he can Local No. 1, the cause directly continue collecting a paycheck affects one of their own. The fire fighters have been and receive benefits. He’s eli- Fill the Boot supports “remarkable; it’s an amazing gible to receive his disability MDA research and services, brotherhood. pension later this year, after including a nationwide net- 10 years on the job. work of more than 150 MDA — Jessica Onyshko,” Matt’s wife “The fire fighters have been Care Centers and nearly 50 remarkable; it’s an amazing centers with the MDA ALS brotherhood,” says Matt’s wife, Care Center designation. Jessica. “The fact that the city Jessica says her husband visits allows them to have this buddy the MDA ALS Care Center at system is amazing.” the University of Pittsburgh Medical Center every six FROM BOOT TO months. “[The MDA Care BENEFICIARY Center] puts together the That willingness to give their respiratory therapist and the time to help others extends neurologists, so we get to see beyond fellow fire fighters all their doctors and special- to all individuals and fam- ists in one day without having ilies living with muscular to make multiple trips,” she dystrophy, ALS and related says. “Getting out of the life-threatening diseases. For house can take hours, so it’s GAZETTE OF POST COURTESY PHOTO Matt Onyshko, a fire fighter with ALS, and his wife Jessica appeared more than 60 years, fire fight- a real blessing.” Fortunately, on “The Ellen DeGeneres Show,” along with some of the Pittsburgh ers have been among MDA’s the Onyshkos don’t have to fire fighters who have helped support them in their journey with ALS. strongest supporters through travel far to their Care Center.

Quest MDA.ORG/QUEST 27 Charcot-Marie-Tooth disease GETTING INVOLVED (CMT) and attend the MDA While fire fighters all around Care Center at Via Christi the country are enthusiastic Medical Center in Wichita. about hitting the streets with In addition to support- boots in hand for MDA, they ing multidisciplinary care at especially enjoy getting sup- MDA Care Centers nation- port from their communities. wide, Fill the Boot helps Gina Rader’s son Grant was fund MDA Summer Camps diagnosed with mitochon- across the country, and drial complex 1 deficiency in Mundell’s children, both 10, 2007. Since then, they’ve been love going to MDA Summer delivering bottled water to Camp. “That’s something fire fighters in Wichita during they really look forward to,” Fill the Boot events. “We’ve Mundell says. “They talk developed a special bond about it all year-round: the with the fire fighters — they friends they meet and their almost start to become part of counselors.” The kids love your family,” Rader says. zip-lining, archery and, espe- Her son Grant, now 13, cially, dress-up days at camp. has been attending MDA The fire fighters in Mun- dell’s department know his [The fire fighters] kids, and he thinks that helps motivate them to raise money “ know me, and for Fill the Boot. “Knowing that they have a fellow fire they have been fighter with children who a big part of the Jason Mundell have a neuromuscular disease, community. I think it’s really helped raise their awareness of it,” he adds. — Becky Fulcher” Knowing that LOOKING OUT Roger Lopez, assistant “ FOR FAMILIES to the general president they have a Jason Mundell is training and and IAFF-MDA fellow fire fighter safety lieutenant for Mul- national coordina- vane Fire Rescue, operations tor, has volunteered with children lieutenant for Wichita Fire at MDA Summer who have a Department and a member Camps for 14 years of IAFF Local No. 135 in and seen the impact neuromuscular Kansas. Mundell has been of Fill the Boot disease, I think with Mulvane Fire Rescue firsthand. “By the for 24 years, but he first got end of the week, it’s really helped involved with Fill the Boot at [the kids] are age 14 as a junior fire fighter having such a great raise their because a childhood friend time, they don’t awareness of it. had Duchenne muscular want to go home,” ” dystrophy (DMD). he says. “It’s — Jason Mundell Mundell has been an such an amazing MDA coordinator, organizing experience. For local Fill the Boot events, us as fire fighters, for more than 10 years now. we’ve really He also adopted a son and taken this mission Becky Fulcher daughter who both have to heart.”

Quest 28 SPRING 2017 GIVE MUSCULAR DYSTROPHY THE BOOT How Fill the Boot donations help fund research, care and support for families

Since 1954, the International Association of Fire Fighters (IAFF) has raised more than $607 million to help kids and adults with muscular dystrophy, ALS and related neuro- muscular diseases. To support MDA’s Fill the Boot campaign, thousands of fire fighters hit the streets or storefronts seeking donations from motorists, pedestrians and others. In 2016, more than 100,000 fire fighters participated in more than 1,600 Fill the Boot events across the country, collectively raising more than $24 million. Fill the Boot donations help fund research across diseases in MDA’s program to help accelerate treatments and cures, and they help provide highly specialized multidis- ciplinary care for kids and adults from day one at MDA Care Centers. Contributions also help MDA provide additional services and support to families, including MDA’s equipment assistance program and the MDA Resource Center. IAFF contributions also help send thousands of kids to MDA Summer Camp each year where they experience a week of freedom and independence and where they can truly live unlimited — all at no cost to their families. To learn how you can support Fill the Boot, visit mda.org/get-involved/fill-the-boot.

We’ve developed a special “bond with the fire fighters — they almost start to become part of your family.

— Gina Rader, Grant’s mother”

age 8, attended Fulcher says. “We don’t have MDA Summer very many people affected Camp every year by neuromuscular diseases.” until she was Knowing that the fire fight- 17. She’s also ers of the McPherson Fire attended 11 Fill Department are working the Boot events in hard for her and others like

Grant (left) delivers water to a Wichita her hometown of her has made such an impact fire fighter during a Fill the Boot event. McPherson, Kan- on Fulcher that she drives A Lifesaving sas. “My favorite back to her hometown each Tradition Summer Camp every year memories are when my fam- year to support the depart- IAFF has been a strong since his diagnosis and loves ily would come out and hang ment during their Fill the MDA supporter and archery, crafts, swimming and out for a while,” Fulcher says. Boot events. “They know partner for more than making new friends. “Even a “My aunt always brought my me, and they have been a 60 years. Read about single dollar makes a differ- cousins and would give them big part of the community,” how Fill the Boot started ence in sending these kids to money to drop in my boot.” she says. Q and the impact it has camp,” she adds. Now 21, Fulcher is had over the decades Similarly, Becky Fulcher, studying communications Susan Johnston Taylor is at mda.org/quest/ who was diagnosed with at Wichita State University. a freelance writer based in article/giving-muscular- Friedreich’s ataxia (FA) at “It’s a pretty small town,” Austin, Texas. dystrophy-boot.

Quest MDA.ORG/QUEST 29 ACCESSIBLE LIVING

Even small changes can make a big difference in accessibility

BY ELIZABETH MILLARD

THE COMFORTS

When Brenda Allen’s son, Tyler, wasof diagnosed Homewith Duchenne muscular dystrophy (DMD), the family had just closed on a home. Although Tyler was only 3, they immediately knew that the house wouldn’t work. It lacked many accessible features, like a bedroom on the first floor and a large bathroom to waccommodate a wheelchair. “We didn’t want to keep because the space became too therapy coordinator at the moving as he got older, so we tight when a shower chair MDA ALS Care Center at decided to build a new one was added. Carolinas Medical Center. A that had features he would “You learn along the curtain on a tension rod can need later on,” Allen says. way what works and what provide privacy, if needed. “But even then, we still had doesn’t,” says Allen. Another tactic is to install to make some modifications “double hinges” that allow along the way.” FRESH IDEAS the door to swing com- The new home had wider For homeowners looking pletely open, also increasing doors, a sloped walkway and to boost accessibility, new the width. a roll-in shower, but as Tyler construction isn’t always an • Swap out regular door- got older, they had to tweak option. Fortunately, there knobs with lever-style some aspects of the rooms are many DIY measures and handles. Ward says this to make them more accessi- modest renovations that can can help people with hand ble. For example, the builder have a major impact. Here are weakness and limited Tyler had put cabinets under the some to consider: mobility, because a door can bathroom sink, which didn’t • Widen doorways by a be opened with an arm or allow Tyler full access to few inches by taking elbow instead of the stan- the sink in his wheelchair, the door and surround- dard grip-and-turn. so they removed them. They ing molding off, suggests • Lower beds by using a also removed a shower bench, Amber Ward, occupational half-height box spring,

Quest 30 SPRING 2017 or even no box spring. Use Allens found that having a wooden slats under the mat- separate bathroom for Tyler HOME ACCESSIBILITY PRODUCTS tress for support. with ample space for him to • Implement smart home move around gave him a sense If your home has some accessibility challenges, consider controls that can turn lights of independence. Focusing accessibility products. These companies offer products that on and off, set thermostat funds and efforts on a project can make everyday tasks easier and may prevent the need temperatures, lock doors like that could yield nearly as for major home renovations. and perform other functions many benefits as redoing an AmRamp Power Access from a smartphone. “This entire house. amramp.com power-access.com can be so helpful for lighting This company offers This company also makes someone’s way, and they GETTING STARTED wheelchair ramps, stairlifts easy-to-install automatic can turn off the lights once Whether taking on a series and other accessibility door openers for homes. they’re seated or in bed,” of small changes or a larger products, which can be Ward says. renovation, like expanding rented or purchased. Also NuProdx • Install a SuperPole in areas a bathroom or bedroom, the available are portable nuprodx.com where railings would be first step is to understand ramps, portable showers, Choose from shower chairs awkward to use, Ward sug- exactly what’s needed. Your overhead patient lifts, pool that are stationary or gests. This type of pole runs MDA Care Center team mem- lifts and grab bars. wheeled, as well as tub and from floor to ceiling and bers, including the physical slider systems, in pediatric assists someone rising from and occupational therapists, Barrier Free Lifts and adult sizes. a seated or lying position. are great resources for help- barrierfreelifts.com • Consider accessibility ing you assess your needs and Their lifts, slings and bath- ShowerBuddy products before making offering tips on modifications ing aids make transfers and myshowerbuddy.com major renovations, suggests that will give you the most daily tasks easier. These chairs are geared for occupational therapist Susan bang for your buck. showers or baths. There are Bachner, a fellow with the “We often see rails in the Mobility Lifter six different models ranging American Occupational hallway that tend to be more mobilitylifter.com from pediatric to adult. Therapy Association. “There in the way than helpful,” says These portable wheelchair may be the perfect product Ward. “Or they’re installed on stair climbers are battery SuperPole that does just what you need, the side where someone has powered and designed to healthcraftproducts.com and it’s often less expensive more weakness.” aid transportation up and This floor-to-ceiling pole can than bringing in a contractor,” Rather than implementing down stairs indoors or be installed anywhere and is she says. For example, rather a wealth of modifications all outside. especially helpful for extra than ripping out a tub to put at once, Bachner suggests a support when rising from a in a wheelchair-accessible progressive approach, based Open Sesame sitting or lying position. shower, consider purchasing a on what’s needed now and opensesamedoor.com battery-powered tub lift that in the near future. “Observe This company specializes SureHands can raise and lower someone movement, any struggles or in residential automatic surehands.com into the bathtub. (See “Home challenges, and make note of door openers, which make This company offers lifting Accessibility Products” for that, so you can modify from getting in and out easier for systems, body support sys- more suggestions.) there,” she says. “Making individuals who use wheel- tems, shower-bathing trolleys, There are definitely times changes based on what you chairs or scooters. safety belts, sliding sheets when hiring a contractor makes think someone needs rather and other mobility products. sense for a major renovation. than what they actually For instance, someone may need could lead to modifi- need a wheelchair-accessible cations that aren’t used and vary significantly by state or ramp to the front door. expenses that could have county. Allen suggests con- But even in those circum- been avoided.” necting with your local MDA stances, focusing on just one or Securing funding for office or the MDA Resource two areas of the home can keep home modifications may Center for advice, resources costs down while increasing be a necessary step to get and support. “They’ve helped accessibility. For example, the started, and resources can us all along the way,” she says.

Quest MDA.ORG/QUEST 31 COMMON HOME MODIFICATIONS Bathrooms: Often the most labor- and cost-intensive room walkers, so it’s usually for renovations, a bathroom can be a mix of DIY and better to use free-stand- contractor-led changes. Typical changes include installing ing shelving units grab bars and roll-in showers, lowering or raising toilet instead. Also, lowering seats and sinks, and bringing in shower or bath chairs or eliminating closet and benches. rods can be helpful.

Tyler’s barrier-free shower Kitchens: Many times, changing a kitchen can be done Doorways: To accom- affordably, based on relocating modate wheelchairs often-used items and making cup- and scooters, doorways often have to be widened. Some boards or drawers easier to access. can be increased by installing offset hinges or removing Typical changes include bringing molding, while others require a contractor to cut into the in a rolling cart, putting dishes and surrounding wall. glasses in low drawers, and install- ing pull-out shelving in cupboards. Fixtures: Low-hanging lights and fans may need to be repositioned if they’re in the way. New smart home fixtures Closets: Built-in shelving often also can be useful, since someone can turn lights, fans and gets in the way of wheelchairs and other home controls on and off from a smartphone.

For the Allens, creating a Living in a rental unit while feel safe, not only physically, more accessible space for Tyler a new house is under con- but emotionally,” says Allen. made a huge difference in his struction, they’re realizing “They really do make such a everyday life and gave him just how important accessi- big difference.” Q A fully accessible shower helped increase Tyler’s greater independence. Now that bility can be. independence at home. he’s 13, the family moved to a “We’re seeing that accessi- Elizabeth Millard is a freelance town with a better school system. bility features allow Tyler to writer in St. Paul, Minn.

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ACCESSIBLE LIVING

A PLACE TO CALL YOUR OWN LEASE For individuals with neuro- muscular diseases, finding rental housing that is, or can be made, accessible can be challenging. In many cases, organizations dedicated to fair housing or independent living Useon resources andlife your may be able to help you in your search. advocacy skills to find Brian Peters, the housing subcommittee co-chair of the accessible rental housing National Council for Indepen- BY CHERYL ALKON dent Living and a community access and policy specialist for Independence First in Milwaukee, notes that you should consider not just what is available in the community A few years ago, Michele Boardman was ready to move you want to live in, but what into her first apartment. But Boardman, 30, who lives the housing is like. Older apartment buildings with with limb-girdle muscular dystrophy (LGMD), had narrower hallways and tighter bathrooms, for example, are several factors to consider besides rent and location. less likely to have the space She had to find a place that would accommodate the modifications she needed: a front door with for power wheelchairs with- Aa number-pad lock, doors removed from her bedroom and bathroom for easy wheelchair access, out significant modifications. under-sink cabinet doors removed for knee space and a barrier-free shower. Newer buildings, particularly She found what she needed in a ground-floor apartment outside of Philadelphia. It was just those built after 1991, when 20 minutes from her parents’ home as well as from the office where she is a community work the Fair Housing Act’s rules incentives coordinator for AHEDD, a nonprofit human resources organization. about new construction went

KNOW YOUR RIGHTS The Fair Housing Act protects individuals from discrimi- > Accessible public and common areas nation because of race, color, national origin, religion, sex, > Doors and hallways wide enough to accommodate familial status and disability when they are renting, buying wheelchairs or securing financing for any housing. > Accessible light switches, electrical outlets and environmental controls Here are key points of the Fair Housing Act: > Reinforced bathroom walls to allow installation of • Landlords may not refuse to rent based on disability. grab bars • It is unlawful for landlords to set different terms or condi- > Kitchens and bathrooms that can be used by people tions for individuals with disabilities. in wheelchairs • Landlords must allow individuals with disabilities to make > These features are required in ground-floor units in reasonable accommodations to a dwelling or common buildings without elevators and in all units in buildings areas, at the renter’s expense. with elevators • Landlords must also make reasonable accommodations in In some places, state or local law may have more stringent rules (for example, waiving a no-pets policy for a service dog). standards. • Buildings with four or more units ready for first occupancy If you feel your rights have been violated, contact your in 1991 or later must meet certain accessibility criteria, state fair housing agency, or file a complaint athud.gov or including: by calling 800-669-9777.

Quest 34 SPRING 2017 into effect, are more likely to disabilities are a protected have wide doorways, ramp class. “If you’re having TIPS FOR FINDING access and other accessible difficulty with a landlord, a ACCESSIBLE HOUSING features. good resource is your local Once you’ve narrowed fair housing organization,” Most states have a fair housing agency. down your options, approach says Peters. “They should be It may be a dedicated fair housing potential landlords with an knowledgeable about both the commission or part of the state attorney open mind. “Think of it as federal law and any local ordi- general’s office or a civil rights agency. In a negotiating process, not nances or state laws. They can states without a centralized fair housing a yes or no question,” says educate the landlord about agency, look for the U.S. Department of Peters. “While landlords are what is required.” Housing and Urban Development (HUD) obligated to make or allow Peters notes that any mod- office for your region, or find a local reasonable accommodations ifications a landlord agrees to agency dedicated to fair housing, inde- or modifications, what’s con- are supposed to be paid for by pendent living or disability rights using sidered ‘reasonable’ can vary. the renter and then restored, the resources below. Think about what works best at the renter’s expense, upon • Centers for Independent Living: for you. If you can’t get that, moving out. But there are 713-520-0232, ilru.org what can you live with? What some exceptions. • HUD Office of Fair Housing and Equal can the landlord live with?” “If the property is federally Opportunity: Boardman asserts this is funded under the Depart- 800-669-9777, hud.gov no time to be shy. “Having an ment of Housing and Urban • National Council for Independent open but assertive approach Development or Department Living: 877-525-3400, ncil.org is helpful,” she says. “Test out of Agriculture, the property • National Fair Housing Alliance: your negotiating skills and owner may be required to 202-898-1661, nationalfairhousing.org know your rights.” cover the cost of reasonable modifications, like adding grab RIGHT AT HOME bars or creating knee space landlord will do. “Some land- It’s a good idea to know the under the sink,” Peters says. lords are willing to negotiate fair housing laws confirm- And sometimes, renters are or even fund some improve- ing that individuals with pleasantly surprised by what a ments if they think the person will be a good long-term tenant and they’ll make that money back,” Peters says. “I didn’t have to pay for any of the changes I made when I moved into my apart- Find Resources ment,” says Simon Cantos, 34, Where You Live who has Ullrich congenital Contact the MDA muscular dystrophy. National Resource Center “I wanted to be able to con- at ResourceCenter@ trol the thermostat through mdausa.org or my phone, and they granted 800-572-1717. MDA’s that request. All I needed to trained information do was buy [the thermostat], specialists can provide and they installed it.” His one-on-one assistance with apartment also has low light locating resources in your switches that are easy to reach community. Specialists are from a wheelchair. “The whole available Monday through experience went well,” he Friday, 8 a.m.–5:30 p.m. says. “I was very much blown Central time, and are away.” Q typically able to answer questions within 24 hours Simon Cantos was pleasantly surprised that his landlord was willing to work Cheryl Alkon is a freelance of a request or the next with him on modifications to his apartment. writer based in Massachusetts. business day.

Quest MDA.ORG/QUEST 35 Harley-Davidson sidecar rides are a beloved part of MDA Ride for Life. SMILES FOR Harley-Davidson riders raise money and make connections at MDA Ride for Life BY ANDREW CONNER miles When Jon Burcaw attended his first MDA Ride for Life in 1999 with his son Shane, who has spinal muscular atrophy (SMA), they were simply there to support the wHarley-Davidson riders raising money and awareness for MDA. Little did he know that by 2007 he would be known as “Smilin’ Jon” and have his own Harley with a Along for the Ride The 30th annual MDA Ride special sidecar that makes entering and exiting easier for for Life kicks off May 6 from the Reading individuals with disabilities. “[My first Ride for Life] Fairgrounds in Leesport, made me smile, and I’ve been pretty much stuck that way Pa. To learn more, visit mdarideforlife.org. ever since,” Jon says.

Quest 36 SPRING 2017 SHARING HISTORY MDA and Harley-Davidson LIKE FATHER, LIKE SON Motor Co. have been affiliated since 1980, and more than 100 While Shane Burcaw still MDA-Harley Davidson rides attends MDA Ride for Life with are held each year across the his father, Jon, he is also busy country to benefit MDA fami- traveling the country promot- lies. MDA Ride for Life began ing his book and charitable in 1988, after members of the organization, both named for a Eastern Harley-Davidson blog Shane started as a college Dealers Association decided student, called Laughing at My to combine their separate Nightmare. fundraisers supporting MDA “I fell in love with writing in into one large event. The high school,” he says. “With event, which takes place over writing and humor, I was able Shane Burcaw (center) surrounded by (from left) his parents, Susan and Jon, his girlfriend, Hannah, and his brother, Andrew, with his girlfriend, Laura. two days in different venues to begin breaking down some throughout Pennsylvania, fea- of the social barriers that society creates for people with disabilities. … The blog was an tures its namesake motorcycle extension of that.” ride, a concert and a parade. As his blog gained traction online, Shane began to receive hundreds of messages every “As the event has evolved, week from people thanking him for helping them overcome their personal struggles with we’ve seen a group of fund- his unique and funny stories. Shane saw this popularity as an opportunity and created raisers who get involved and the Laughing at My Nightmare organization to help support individuals with neuromuscu- really take the cause to heart,” lar diseases. says Carol Schaeffer, owner of “Creating an effective, sustainable organization is no small task, which we quickly Schaeffer’s Harley-Davidson learned,” Shane says of the entrepreneurial experience. “Luckily, we’ve been surrounded in Orwigsburg, Pa., and one by amazingly passionate individuals who have assisted and guided us along the way. I’m of the dealers who partici- so proud of how far we’ve come.” pated in the first MDA Ride Shane also travels the country with his cousin, Sarah, Funny Pages for Life. “Through the years, giving motivational speeches. In the past two years, they’ve Learn more about Shane they’ve been raising more participated in more than 80 speaking engagements. and read his blog at and more money. In 1988, we “Our talk shares the idea that positivity is an effective laughingatmynightmare.com. raised something like $10,900, way to overcome adversity,” he says. “We also speak about and last year we raised about embracing our differences, inclusion and promoting a bet- $253,000.” ter understanding of disability. I use funny stories from my experience with disability to In total, Ride for Life has illustrate these concepts.” raised more than $20 million In addition to sharing his message, Shane enjoys the change of pace and scenery that to benefit MDA families. traveling provides. Jon has raised more than “One of my favorite experiences was flying across the country for a few speaking $210,000 in his years as a engagements in San Francisco,” he says. “I had never been to the West Coast, so it was rider, but he says the connec- not only awesome to explore the beautiful city, but our speeches also went really well. tions he has made as a Ride Plus, I survived air travel with my wheelchair, so it was an all-around success.” for Life participant are just as important. In 2011, he published a novel, The Sidecar witness to the amazing good- with SMA as an infant, and Kings, based on his experi- ness that comes when you put has attended MDA Ride ences at Ride for Life and an MDA camper into a Harley for Life and other events at MDA Summer Camp. sidecar. It is a thing of magic.” Schaeffer’s Harley-Davidson “The Sidecar Kings was since he was a child. Shane written to pay tribute to the MAKING MAGIC is now a 24-year-old author, Schaeffers, my fellow riders Jon has seen the magic of entrepreneur and motiva- and MDA campers,” says Jon. helping a child with a neu- tional speaker. “Without these folks there romuscular disease to live “It’s always great to see the would have been no book unlimited through his son Harley-Davidson riders who and I would not have been a Shane, who was diagnosed do so much to fundraise for the

Quest MDA.ORG/QUEST 37 We couldn’t do this without our riders. “ And the thing that really spurs them to come out is how attached they’ve become to MDA families. — Carol Schaeffer ” cause,” says Shane. “I remem- “We couldn’t do this with- ber when I was little, my out our riders,” says Schaeffer. favorite part was the exorbi- “And the thing that really tant amount of candy I would spurs them to come out is come home with each year.” how attached they’ve become The Schaeffers and the to MDA families like the Burcaws both look forward to Burcaws. In some cases, we’ve this year’s event, which will watched boys with Duchenne mark the 30th time Harley- muscular dystrophy come at Davidson riders and the 6 years old and be walking, MDA community have come and years later they end up in together for Ride for Life. a wheelchair. And that speaks They’ll be joined by hundreds to what we want to do [with of other supporters and riders, Ride for Life]: raise money for some of whom are personally a cure to get them out of the connected to MDA and others wheelchairs.” Q who have developed bonds

Shane and his cousin Sarah with MDA families through Andrew Conner is a writer and the ride. editor for Quest. 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 30% and 80%

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

B1162-002244_RAXONE_Sideros_Clinical_Trial_Ad_M04.indd 1 3/10/17 10:29 AM access MDA Your guide to the MDA community

Journeys of a Lifetime Carden Wyckoff and her brother seek adventure and raise FSHD awareness

Carden Wyckoff, a 24-year-old piggyback adventure in 2015 Their goal was to do the found us and said they wanted professional with facioscapu- when her brother Spencer 21-mile section of the trail in to be a part of our journey. lohumeral muscular dystrophy carried her on his back through Georgia, which is seven times That was really cool.” (FSHD), went on her first the Reebok Spartan Sprint, longer than the Spartan Sprint. With the exposure on a tough three-mile obstacle Although they had never done social media and in local course. After their second anything that demanding, news, Carden felt she had an Spartan race in 2016 — and Carden jumped at the oppor- opportunity to tell more people after Spencer appeared on tunity and began planning the about FSHD and created national TV on “American hike. In October 2016, they piggybackadventures.com. Ninja Warrior” — Carden and set off. “It’s a way to raise aware- Spencer were approached by a “It was the most remarkable ness and bring in individuals friend who had co-founded the experience,” Carden says. “The to help out and be a part of travel company Vestigo. camaraderie on the trail and that mission,” she says. “And “He said, ‘I want to partner the teamwork were amazing. so now there’s this expecta- with you guys and see you We met a lot of people on the tion [that we’ll continue doing tackle the Appalachian Trail,’” way. Our story got out when we adventures].” says Carden, who works for a were on the trail, and people Carden doesn’t plan to let Carden and her brother Spencer large tech company in Atlanta. would hike to find us. People anyone down. She and her

Quest 40 SPRING 2017 brother are planning to take on Mount Kilimanjaro in Tanzania this October with other friends and family. MDA Hosts First Public Policy & “It’s been a dream of mine to go to Africa, and I really Advocacy Conference enjoy wildlife,” Carden says. MDA families to advocate for policies and programs important to “What better way to experi- ence it than to hike the tallest the neuromuscular disease community mountain on the continent MDA is hosting its first national Public Policy & Advocacy Conference for individuals and families with a bunch of my friends living with neuromuscular diseases April 23–25 in Washington, D.C. The event will focus on poli- and family?” cies that accelerate the development of treatments and cures, ensure access to health care and Climbing Mount Kiliman- help families live unlimited. Nearly 100 individuals are expected to attend. jaro offers some significant The conference aims to empower families to advocate for legislation, policies and programs that challenges compared to the support the neuromuscular disease community. On April 25, attendees will meet with congressional Appalachian Trail, but Carden members throughout the day to help deliver a coordinated message to policymakers on Capitol Hill. and her crew are already preparing. Carden sees a Even if you are unable to attend the conference, we still need your help to make sure connection between her love our voices are heard. Sign up today to become an MDA advocate, and you will receive of planning for trips like these email alerts on how you can take action alongside the families meeting with congressional and her love of advocating for members in Washington, D.C., on April 25, as well as emails with policy updates and ways to people with disabilities. stay involved beyond the conference. Go to mda.org/advocate to get started. “Fun for me involves things MDA Quest Jan 2015 6000Tilt_mm_346.qxd 12/5/2014 8:55 AM Page 1 like Piggyback Adventures,” she says. “I love planning and traveling and breaking down those barriers and redefining NUPRODX CAN what disability means.” MULTICHAIR Tub/Slider Systems While studying at the SAVE YOU $1,000s MULTICHAIR 6000Tilt University of Georgia in ALL NEW! With a MULTICHAIR 6000Tilt you can use Athens, Carden, along with your existing tub and save $1,000s in some of her peers, fought to remodeling costs. Its Center-of-Mass design keeps the user’s weight centered make the university’s famous through the entire tilt range, for a small Arch, which many students footprint. Log on to www.nuprodx.com stand underneath for photos to see the entire range of shower and commode systems that will improve the after graduation, accessible to quality of life for users and caregivers everyone. She continues this alike. It’s the one system that can last a advocacy in her daily life and lifetime! documents it on her Instagram Features Include: page, where she often posts • Center of Mass Tilt-in-Space con- trolled by a side-mounted hand crank photos and videos of curb cuts for easy care-giver or user adjustment in Atlanta that provide better of tilt angle • Eliminate bathroom transfers with an accessibility under the hashtag effective alternative when installing a #EqualAccess. roll-in shower isn’t possible or afford- able • Fold-back padded locking arm rests / Learn more about adjustable swing-away footrests Carden’s upcoming • 5" casters with Total-Lock brakes adventures at piggyback • Seat height adjusts to the highest toi- lets required by the ADA adventures.com. Check out • Removable locking bridge section her Instagram page where she www.nuprodx.com • Won't rust or corrode: Aluminum, brass, stainless steel and plastic con- advocates for better accessi- (855) 220-5171 struction—it’s going to last! bility @cardenofmilk. ACCESS MDA NEWS AND UPDATES FROM THE MDA COMMUNITY

Always Up for a Challenge Nine-year-old takes on obstacle course to raise awareness about CMT Nine-year-old Lily Sander the Charcot-Marie-Tooth Association (CMTA). Lily, along doesn’t remember life without with a group of her friends, conquered the half-mile course Charcot-Marie-Tooth disease even though it was cold, windy and very muddy. (CMT), but she has never let it “The best part was that she experienced something she hold her back. After undergo- hadn’t done before,” says Sander. “She’s big on pushing ing major foot surgery three herself, so the thrill of achieving this goal was the highlight and a half years ago to correct for her.” the extreme curving of both Lily will challenge herself again this year at the Spartan feet caused by CMT, Lily Kids Race on Memorial Day in Fort Mill, S.C. Her father and had to learn how to walk two brothers will join her, and she hopes even more friends again. She now walks with the will race with her this time, since it’s closer to their home. help of leg braces and has “We’re hoping to make it a community event,” says Sander. been thriving. The 2K course (the shortest distance offered) is triple “‘I have CMT, but it doesn’t the distance of last year’s race, but Lily is stronger and have me,’ is her motto,” says in better condition. “We believe staying active has been Lily’s mom, Julie Sander. instrumental in helping to keep her disease from progress- Last year, Lily participated ing,” says Sander. in the Spartan Kids Race, an Lily has participated in gymnastics for two years, and she obstacle course for children joined a competition team in January. She goes to training ages 4 to 14, in conjunction with one day a week, but she plans to increase her training days Lily surmounts an obstacle in the Spartan Kids Race.

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→ 800.454.6612 → www.inspiredbydrive.com → @inspiredbydrive Live Makers of the 1-800-537-1724 Headmaster Collar www.symmetric-designs.com Inspired! as her body adapts. There are and signing Lily up for this some things she can’t do, her year’s MDA Summer Camp. Impacted by mom says, but Lily focuses on One of the Sanders’ goals her strengths and dreams of in participating in events like becoming an Olympic gymnast. the Spartan Kids Race is to Friedreich’s Ataxia? She has the drive to do it, and bring attention to CMT and she doesn’t like to be told she help others living with the Share Your Voice! can’t do something. “So much disease. “We’re trying to bring How to get involved in of what Lily teaches people is awareness because awareness the Friedreich’s Ataxia that the majority of limitations drives funding, funding drives we have exist only in our heads,” research, and research and Patient-Focused Drug says Sander. drug development can dramati- Development Meeting When Lily was first cally impact the lives of people An upcoming Friedreich’s ataxia diagnosed with CMT, it was dif- with CMT,” Sander explains. (FA) Patient-Focused Drug Devel- ficult for her and her family to “We want CMT to become a opment (PFDD) meeting with the find support. “It was like being household name.” U.S. Food and Drug Administration on an island,” says Sander. (FDA) is your opportunity to tell the FDA and drug developers CMT affects about one in Cross the finish line with about challenges and burdens you have experienced with FA, 2,500 people in the U.S., but MDA Team Momentum. and share your thoughts about what is most important to you there are many different types Run or walk for kids and adults in evaluating potential new treatments for the disease. of the disease so it’s not as with muscular dystrophy, ALS The meeting, co-organized by the Friedreich’s Ataxia well-known. The Sander family and related diseases that take Research Alliance, Muscular Dystrophy Association and found support and a commu- away strength, independence National Ataxia Foundation, marks the first time patients and nity through MDA by attending and life. Sign up today at families affected by FA will be able to speak directly to the their local MDA Care Center mdateam.org. FDA and share their experiences in their own words. >

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Information captured at the meeting, summarizing input about the patient experience from people with FA across the Clinic Connection country, will be published in a “Voice of the Patient” report and submitted to the FDA for inclusion in the framework used to Dwight Koeberl fights neuromuscular disease evaluate future FA therapies. through his work and as an MDA Jailbird There are several ways you can get involved: • Attend the meeting in Bethesda, Md., on June 2, from Dwight Koeberl, M.D., Ph.D., a pediatric 8 a.m.–12:30 p.m., at the College Park Marriott and medical genetics specialist at Duke Conference Center. University Medical Center in Durham, • If you cannot attend, join online via streaming webcast N.C., attended his first MDA Lock-Up and share your input on the specific panel and six years ago as a guest. demographic questions. “I saw a patient at the clinic [whose • Keep an eye out for future communications and surveys family] was doing the MDA Lock-Up,” he through which you may be able to contribute your thoughts. says. “After I attended that with them, I Dwight Koeberl, M.D., Ph.D have a sneaking suspicion they mentioned my name to MDA [as a No one can make the voice of the FA community heard more potential Lock-Up participant], and that was how I got involved.” than those impacted by the disease. Your participation is critical Koeberl’s connection to MDA began through his work as a doc- to making sure our collective voice makes an impact. This is your tor and medical researcher studying genetics and gene therapy. chance to make sure your input helps guide the development of He didn’t necessarily expect to be working on neuromuscular dis- successful, effective and meaningful treatments for FA. ease when he first arrived at Duke University, but the timing was right, as a colleague had just developed the enzyme replacement To learn more about the meeting and how you can therapy treatment for Pompe disease. Since joining Duke, contribute, visit cqrcengage.com/mda/pfdd. Koeberl has worked on multiple grants funded by MDA. > Serving the Community Since 1979 Experience Abilities Expo!

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“We’ve been working on gene therapy for Pompe disease since before I got my first grant,” he says, “but it has evolved over time. Currently, we actually have an FDA go-ahead to do a clinical trial of Get Involved gene therapy in Pompe disease.” Find your passion, and get involved in the MDA In addition to this clinical trial, Koeberl is currently researching what community in a way that’s meaningful for you. he calls the “next generation” of gene therapy — a gene-editing method Learn more at mda.org/get-involved. known as CRISPR — for which he is hoping to receive grants so he can further study the cutting-edge technology. “The first generation of gene therapy is replacing the gene to correct the patient’s muscle, and the second is to actually correct the patient’s mutation in their muscle so their cells will be permanently corrected,” he says. Even though he’s busy with this research, Koeberl finds time every year to raise money for MDA. He estimates he’s attended around six MDA Lock-Up events and has raised around $1,000 each time. He attributes his ability to raise the funds year after year to his colleagues’ connection to the cause through their research. “I think part of the reason I’m able to fundraise is my colleagues here all understand the importance of MDA and how important [MDA Summer Camp] is for the kids, some of whom are our patients,” Koeberl says.

MDA Lock-Up is a fun and inspiring community event that raises funds and awareness to help kids and adults with neuromuscular diseases. Visit mda.org/lockup, and get involved today.

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Capricor QUEST Spring 2017 1/4pg ad_2.1-A.indd 1 3/8/17 3:19 PM Advancing Scientific Breakthroughs to Save and Improve Lives MDA’s Scientific Conference brings together experts working toward scientific and therapeutic advancements

More than 500 leaders in the as we’ve recently seen three and targeted treatments for • Exploring new findings in academic, government, industrial drugs — all developed and neuromuscular diseases. motor and peripheral neuron and clinical arenas who work in tested with critical support from Conference presentations diseases various ways to drive scientific MDA — be granted U.S. Food and discussions focused on the • Clinical trials and therapeutic advancements and Drug Administration (FDA) following areas: • Strategies and resources for and discoveries participated in approval to treat diseases in • Genetics, epigenetics and academics working to move the MDA Scientific Conference, MDA’s program. gene discovery forward with a drug idea held March 19–22 in Arlington, To help keep the momen- • Approaches to precision • A career workshop for trainees Va. Attendees gathered to share tum going, the 2017 conference medicine • Public policy and advocacy critical updates on a wide range focused on better under- • Understanding nuclear mem- updates of scientific topics. standing disease causes, branes and protein At MDA, we work to advance identifying new therapeutic misfolding/turnover Go to strongly.mda.org scientific breakthroughs to targets and innovative tech- • Gaining insights into chan- to read more about all save and improve the lives of nologies, and discussing new nelopathies, dystrophin the different ways MDA is individuals living with neuromus- advances in preclinical and glycocomplex diseases, working to uncover break- cular diseases. This conference clinical research — all aimed at mitochondrial myopathies and throughs that accelerate marked a special time in history, accelerating drug development repeat expansion diseases treatments and cures. ACCESS MDA NEWS AND UPDATES FROM THE MDA COMMUNITY Peak Performance

Nicki Hudson, who was diagnosed with Charcot- “Don’t just write yourself off because you have muscular Marie-Tooth disease (CMT) dystrophy. Let it be a motivator.” — Nicki Hudson at age 12, summited Mt. Kilimanjaro in Tanzania in 2016. Here, she’s pictured at a village school, where her climbing group stopped to give out supplies. Hudson made the trek partly to show her 7-year-old daughter, who also has CMT, that nothing can stop her from reaching her goals. Read the full story on MDA’s Strongly blog at strongly.mda.org by searching for “No Mountain Too High.”

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Honor a family member by making a tribute gift to MDA in your will or trust. PIONEER A NEW CLINICAL TRIAL To learn more, IS NOW ENROLLING PATIENTS WITH visit mdalegacy.org. DERMATOMYOSITIS

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YELLOW Trimmed size: 2.375”W x 4.875”H Safety: 0.125“ on all sides BLACK Bleed: 0.125” on all sides FROM WHERE I SIT UNFILTERED VOICES FROM THE MDA COMMUNITY Interdependence Day Recovering from an injury helps redefine what it means to be independent

BY MATT CURCIO

like a broken ankle could strip me completely of the indepen- dence I have worked so hard to attain. I am writing this article to share with you that months and months after my accident, I am still not 100 percent healed. The injury took a lot from me: time, energy, finan- cial stability. But it did not strip me of my independence. No, it just redefined indepen- dence for me. Did my family have to drive cross-country to pick me up from a hospital and drive me back to their home so I could recover safely? Yes. Did I have to take a leave of absence from a job that I love? Yes. Was I unable to drive for more than two months and y understand- like any other day, but my walk for more than three ing of the concept body had a plan of its own. months? Yes. Mof independence My ankle rolled, fracturing on But did that steal my inde- recently blew up in my face. both sides. I was devastated, pendence? No. Part of independence, for me, and fear smacked me in the I would be lying if I did has been my ability to live on face harder than my knees hit not admit that on many days my own. In fact, I live 1,200 the pavement. I felt like all of my indepen- miles away from any relatives. I have to admit upfront dence was gone. Looking Sure, I cannot walk very far, that breaking any of my bones back, though, I know that my but a massive part of embrac- has been a deep fear since independence is not defined ing my freedom has been my I was old enough to realize by my physical abilities, even ability to drive, to travel and to what simple injuries and ill- though they seem inseparable. go where I want when I want. nesses can do to someone like My independence is found Well, on June 16, 2016, me. I have been terrified for in my will and drive to do I stood up from my scooter, years about how something what I can, to accept help

“My independence is found in my will and drive to do what I can, to accept help when I need it and to embrace interdependence as my mantra.” — Matt Curico

Quest 50 SPRING 2017 when I need it and to embrace Independence the way fear in the eyes and conquered interdependence as my mantra. many in our culture view it it. I got an extra three or More Online Interdependence is a term is an extremely self-seeking four months to see family I Read stories from around that is making its rounds concept. It reverberates with rarely get to see. I got to take the MDA community — throughout the disability a voice that says, “I don’t need a breath and evaluate my life and share your own — on community. The concept is you; I can do this myself.” and come back stronger Strongly, the MDA blog. simply that no person — no While interdependence than ever. Visit strongly.mda.org matter their ability — is announces, “I can do this I had the wild idea of to find personal stories meant to tackle life alone. The better with you at my side; documenting the harshest from people living concept states that people of let’s grow together from this parts of my recovery, which with neuromuscular all abilities have something experience.” I did, and I posted the diseases, research news, priceless to bring to the table In many ways my injury 10-minute mini-documentary fun videos and more. that is human relationships. was a nightmare, but it never on Facebook for my orga- If you’re interested in To accommodate me, my reduced my worth or what nization, Break the Roof, in sharing your story on parents literally had to tear I could bring to the table of November 2016. (View it at Strongly, contact us at down a wall and rearrange human relationships. I know youtu.be/bM5lo5HyupU.) [email protected]. their lives. My pride took a lot firsthand the fear that causes I wanted to take my expe- of hits from the emotional and us to avoid trying something riences and give people financial toll I was taking on new and how even the concept without disabilities a behind- my family. But that perception of independence can be a the-scenes look into our is quite flawed. Interdepen- chain that holds us down. If I obstacles. More importantly, dence says that as much as I could call you to any action, it I wanted to show others like needed to accept assistance would be to embrace interde- myself that if injury is your with my daily routine, my pendence as the true form of greatest fear, you have noth- family was also depending what human relationships are ing left to fear. on me to do what I could. supposed to look like. If you have nothing left to To try when I was tired of For a while, I could only fear, what are your deepest struggling. To speak with see what I felt my injury desires that would make you love and encouragement when took away from my already soar? Utilize interdependence bitterness was overwhelming “limited” independence. Now, to go full force after what my spirit. I see that I looked my greatest makes you feel independent and free. Maybe it is telling

Matt Curcio advocates for individuals with disabilities. stories, knitting, working with kids, raising animals or counseling friends. What matters is that it makes you feel like the fullest version of you. Go after it, and leave fear behind. Q

Matt Curcio, 26, is a speaker, writer and advocate living with a non-specific congenital myopathy in Nashville. In 2016, he founded Break the Roof, a disability advocacy organiza- tion. For more information, visit breaktheroof.org or mattcurcio.org. His recovery mini-documentary is also acces- sible through these websites.

Quest MDA.ORG/QUEST 51 LASTING IMPRESSION Summer Strong MDA Summer Camper forms lasting bonds with her counselors

lvira, a 16-year-old with spinal muscular Eatrophy (SMA), has been attending MDA Summer Camp near her hometown of Amarillo, Texas, since she was 7. Between campers, coun- selors and other volunteers, she has made a lot of friends and memories over the years, which is her favorite thing about attending camp. “[The people I’ve met] have helped me so much and impacted my life,” she says. “I remember the first year I went, I was really shy, and I remember the they helped me realize how “ fun camp was and that it was first year I went, worth it.” Elvira (middle) has built friendships with her counselors Hanna Garcia (left) and I was really shy, Elvira, like many campers, Shelby Bryant (right). has formed strong relation- “You all get really close at camp, even though you’re only and they helped ships with her counselors and there for a short amount of time,” Elvira says. “It’s because me realize how fellow campers. Shelby Bryant we don’t care how we act in front of each other, and we’re all and Hanna Garcia, two of outgoing with each other.” fun camp was Elvira’s longtime counselors, Garcia explains that the strong bonds she has formed with and that it was have known her for years, but Elvira and other campers keep her coming back year after year. it didn’t take long for them to “We are a pretty small Summer Camp, so it’s like a fam- worth it. — Elvira develop a bond. ily,” Garcia says. “We’re all so close, and seeing them have the ” chance to go to camp and experience everything, and seeing the smiles on their faces, it’s so much fun.” While Elvira has two more years of attending MDA Sum- mer Camp, she knows that Bryant, Garcia and the rest of her camp family aren’t going anywhere. They’re always there to provide support and encouragement. “I really feel that no matter how many years it’s been, we’ll always be lifelong friends,” Elvira says. Q

Live Unlimited at MDA Summer Camp MDA Summer Camp is considered “the best week of the year” by campers and counselors, alike. Kids have the freedom to be kids in a place where anything is possible. Learn more about becoming a camper or volunteer at Elvira (bottom right) with some of the friends she made at MDA Summer Camp. mda.org/summer-camp.

Quest 52 SPRING 2017 We’re looking for people with LEMS or CMS.

Do you have Lambert-Eaton Myasthenic Syndrome (LEMS)? Congenital Myasthenic Syndrome (CMS)? Or, do you know someone who does?

You can help make a difference. Catalyst Pharmaceuticals is conducting important clinical studies in both LEMS and CMS to study the safety and efficacy of the oral investigational medicine FIRDAPSE® (amifampridine phosphate). Your participation can help support getting an FDA-approved treatment and advance the cause of other patients struggling with these rare diseases.

"BREATHING PROBLEMS" "EASILY FATIGUED" "DROOPY "WEAKNESS" EYELIDS" "DIFFICULTY MOVING" "DIFFICULTY CLIMBING STAIRS" "FATIGUE" "TROUBLE WALKING" "FALLING" "SLURRED SPEECH" "CAN’T MOVE"

LEMS Patients CMS Patients Adults with a confirmed diagnosis of LEMS People age 2 and older who have a body weight may become eligible to participate in this greater than or equal to 10 kg (22 lb) and have brief study (usually 7-9 days in duration) to be been diagnosed with CMS, including certain conducted in Los Angeles and Miami. Travel, genetically confirmed defects, are candidates hotel, and meal costs will be covered for both for this brief trial to be conducted in Atlanta, you and a companion. Baltimore, Boston, Columbus, OH, and Los Angeles. All travel related costs will be covered for both you and a companion.

Learn More For more information about Catalyst’s Expanded Access Program (EAP) and/or our clinical studies, contact Catalyst at [email protected] or call 1-844-347-3277. More information about both trials is also available on the Catalyst website at www.catalystpharma.com

Catalyst Cares Catalyst Pharmaceuticals is a pharmaceutical company focused on developing prescription drugs to treat rare neuromuscular and neurological diseases, including LEMS and CMS. Catalyst has been dedicated to providing education to LEMS/CMS patients and physicians. For more information on our work, please visit us on the web at www.catalystpharma.com

© 2017 Catalyst Pharmaceuticals, Inc. All Rights Reserved. Printed in the USA. CAT-17002 SHOULDN’T BE AN AFTERTHOUGHT

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