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THE WINTER 2020 Re p ort CMTA www.cmtausa.org BE THE CHANGE >>>Gene Editing Surgical Correction Youth of Tomorrow 6Studies for Type 2 14of the CMT Foot 18 Shine at NYC Gala CMTA LEADERSHIP Amy J. Gray, CEO BOARD OF DIRECTORS ADVISORY BOARD CMTA STAR ALLIANCE Gilles Bouchard, Chairman Jonah Berger David Misener, BSc (HK), PARTNERS: Gary Gasper, Treasurer Gregory Carter, MD, MS CPO, MBA Herb Beron, Secretary Ken Cornell, CO Elizabeth Misener, PhD, David Coldiron Bob DeRosa LMSW ACCELERON PHARMA Thomas W. Dubensky, Jr., PhD Katy Eichinger, PT, DPT, NCS James Nussbaum, PT, PhD, Laura Fava Ashraf Elsayegh, MD, FCCP SCS, EMT ARQ GENETICS Alan Korowitz Tim Estilow, OTR/L Sabrina Paganoni, MD, PhD David Norcom Shawna Feely, MS, CGC Glenn Pfeffer, MD CHARLES RIVER Steve O’Donnell Valery Hanks, OTR/L, C/NDT Clark Semmes Chris Ouellette Sarah Kesty Carly Siskind, MS, CGC GENZYME, A SANOFI COMPANY Elizabeth Ouellette Kate Lair Greg Stilwell, DPM Kevin Sami Sean McKale, CO, LO David Tannenbaum, LCSW HUMANFIRST THERAPEUTICS LLC Phyllis Sanders, Esq. Bethany Noelle Meloche Amy Warfield, PT, DPT Steven Scherer, MD, PhD Tom Meloche HORIZON DISCOVERY Michael Shy, MD John Svaren, PhD IONIS PHARMACEUTICALS Special Advisor to the Board INFLECTIS BIOSCIENCE Bruce Chizen THE JACKSON LABORATORY STAR ADVISORY BOARD John Svaren, PhD, Chair, Scientific Expert Board NCATS (NIH) Mark Scheideler, PhD, Chair, Therapy Expert Board Michael E. Shy, MD, Co-Chair, Clinical Expert Board NEW YORK STEM CELL FOUNDATION Mary Reilly, MD, Co-Chair, Clinical Expert Board PASSAGE BIO CMTA STAFF PSYCHOGENICS Andi Cosby National Events Manager, [email protected] Leslie Nagel Marketing Coordinator, [email protected] REGENACY PHARMACEUTICALS Kim Magee Director of Finance and Administration, [email protected] Laurel Richardson Director of Community Outreach, [email protected] RENOVO NEURAL, INC. Jeana Sweeney Director of Development, [email protected] CMTA CORPORATE PARTNERS: AETREX WORLDWIDE, INC. ALLARD, USA BALANCE WALKING FOOT SOLUTIONS GENEDX HANGER CLINIC SPREADING AWARENESS See page 13 KINETIC RESEARCH TURBOMED ORTHOTICS INSIDE THIS ISSUE: RESEARCH FUN AND FUNDRAISERS Gene Editing Studies for Type 2 ................6 Walk This Way ...................................12 NIH Awards INC $7.2 Million Youth of Tomorrow Shine at NYC Gala .......18 for work on CMT ...................................7 Game-Changer Profile: LIVING WITH CMT Drug Therapy Expert Mark Scheideler .........8 New Video Series on Exercise for CMTers ....4 Robert Burgess, PhD Joins Adapt, Then Ski ..................................10 SAB ..................................................9 Surgical Correction of the CMT Foot..........14 CMT COMMUNITY CMT Awareness Month .........................13 Atlanta PFC .......................................15 THE The CMTA Report is published by the Charcot-Marie-Tooth Report Association, a registered non-profit 501(C)(3) health organization. CMTA © 2020, The CMTA. All rights reserved under International and Pan American Copyright conventions. No part of this newsletter Marcia Semmes Executive Editor may be reproduced in any form or by any electronic or mechanical OUR MISSION: Karlyn Rosen Aires Designer means, including information storage and retrieval systems, without To support the development of Dana Schwertfeger Contributing Editor permission in writing from the publisher. The opinions expressed in new drugs to treat CMT, to improve the quality of life the newsletter are not necessarily those of the Charcot-Marie-Tooth Association. The material is presented for educational purposes ISSN #1067-0181 Vol. 35, No. 1 for people with CMT and, ultimately, to find a cure. only and is not meant to diagnose or prescribe. Always consult your professional advisers as to how medical, legal or financial OUR VISION: A World Without CMT. Email the CMTA at information in The CMTA Report pertains to you. The CMTA [email protected] assumes no liability for any information in The CMTA Report. A MESSAGE FROM THE CEO DEAR FRIENDS, he New Year is always a time for taking stock. It’s also a good T time for making changes, and this year it puts us in mind of the great Mahatma Gandhi, who said, “Be the change you want to see in the world.” The change we want to see in the world is, of course, the complete and total eradication of CMT. It’s what inspires us, drives us and unites us. At the individual level, change takes many different forms, some of which we’re featuring in this issue of The CMTA Report. Change might take the form of new, healthier habits and certainly we applaud those. If you’re capable, the exercise program that Board Member Steve O’Donnell developed specifically for people with CMT is a great way to start the New Year. Change can also take the form of an attitude adjustment, and we’re also spotlighting two individuals who changed their lives after changing their attitudes. Jamal Hill, the #1 Paralympic swimmer in the United States in the 50-meter freestyle, recounts his road to the 2020 Paralympics in Tokyo and how it began with a change in attitude. Jamal struggled for years with the secret of his CMT1X and says that only when he stopped treating it like a curse did the “blessings and opportunities start flowing.” Like Jamal, Julie Stone was in denial about her CMT for most of her life—until she attended a CMTA Patient/Family Conference in Seattle in 2018. It changed her world, she says, break- ing down her own stereotypes about what people with disabilities are like. In a heartbeat, she changed from a CMT denier to a CMT “defier.” The CMTA is changing, too. We added new members to our CMTA Board of Directors and CMTA Advisory Board in 2019, and we fully anticipate that they will help us be the change we want to see. Another person who is helping us change is Mark Scheideler, the expert guiding the CMTA’s drug discovery process. You can read about his achievements in his profile on p. 8. Because technology is ever-changing, we also bring you news in this issue about potentially game-changing new research in gene editing being funded by the CMTA. We’re excited about the changes that the drug discovery process will bring in 2020. We wish you the happiest New Year and a change for the better. All my best, AMY GRAY, Chief Executive Officer WINTER 2020 THE CMTA REPORT 3 SWIMMING UPHILL WITH JAMAL HILL BY CLARK SEMMES JAMAL HILL is currently the #1 ranked Paralympic swimmer in the United States in the 50-meter freestyle, but athletic achievement did not come easily to the California native. He struggled for years with the secret of his CMT1X and says that only when he stopped treating it like a curse did the “blessings and oppor- tunities start flowing.” Born in the Los Angeles neighborhood of Inglewood, Jamal started swimming at the age of 7, before his CMT became symptomatic. At the age of 10, he dislocated his shoulder, which was so damaged Post high-school, Jamal that doctors considered amputating earned a small athletic scholarship the arm. That was followed by a to Hiram College, a Division III bout of flu that left him paralyzed school in Ohio. His coach was a for a short time, able only to speak 70-year-old Midwesterner, Jamal and nod. His family assumed his was a young black kid from Los swimming days were over. Angeles and the two were unable Although Hill eventually to bridge the gap between them. regained his mobility, his parents Jamal performed so poorly his and other family members decided junior year that he decided to look to keep quiet about his CMT, not elsewhere for a coach. wanting to alter his perception of He found Dave Salo at the what was within his reach. His University of Southern California parents acknowledged his CMT, (USC). He called Dave in Febru- but didn’t allow him to use it as an ary of his junior year and said he excuse or a crutch. was leaving Hiram to swim at Jamal eventually recovered USC. Jamal returned to California and got back into swimming his and joined the USC swim team— sophomore year at Junipero Serra the Trojan Elite. High School in Gardena, Califor- After a year without much nia. During his sophomore and improvement in his swim times, junior years, he only swam three Jamal decided he needed a per- months per year and did not excel. sonal coach. He found mental In the fall of his senior year, he performance coach and swim con- joined a club team and trained sultant Wilma Wong through really hard, earning a first place in another swimmer. She quickly his division. noticed that Jamal’s dives needed 4 THE CMTA REPORT WINTER 2020 PARALYMPIC ATHLETE Follow Jamal at www.swimuphill.com/landing or on Instagram at @SWIMUPHILL. improvement because his legs Jamal’s goal is to win four me, I have to get out there and weren’t functioning. Jamal finally gold medals at the Tokyo Para- help people. I want to be more in began talking openly about his lympic Games in 2020. He also the teaching lane instead of just CMT and now says he wishes hopes to be a contender for Paris the entertaining lane.” he’d started sooner. “When we 2024 and Los Angeles 2028, when Jamal estimates that he has confront the things that challenge the Paralympic Games will be held already taught hundreds of people us, we find opportunities to in his own backyard. “It all comes in his community to swim. grow,” he says. back to legacy,” Hill said. “I think “You’d be amazed at how “When we Wong told Jamal that unless a that’s what my life is about—try- many people have this distinct confront the cure for CMT could be found ing to do something that will fear of the water,” Hill said.

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