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CMTAT H E SPR ING 2019

Research Identifies New Types of CMT

New Gene TherapyStudy for CMT1X

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www.cmtausa.org

A CLINICAL TRIALFOR CAROLINE

The CMTA Report is published by the Charcot-Marie-ToothAssociation, a registered non-profit 501(C)(3) health organization. © 2019, The CMTA. All rights reserved under International and Pan American Copyright conventions. No part of this newsletter may be reproduced in any form or by any electronic or mechanicalmeans, including information storage and retrieval systems, withoutpermission in writing from the publisher. The opinions expressed inthe newsletter are not necessarily those of the Charcot-Marie-ToothAssociation. The material is presented for educational purposes only and is not meant to diagnose or prescribe. Always consult your professional advisers as to how medical, legal or financialinformation in The CMTA Report pertains to you. The CMTAassumes no liability for any information in The CMTA Report.

Marcia Semmes Executive EditorKarlyn Rosen Aires DesignerDana Schwertfeger Contributing Editor

Email the CMTA [email protected]

ISSN #1067-0181 Vol. 34, No. 1

CMTAT H E

Re p or t

OUR MISSION: To support the development of new drugs to treat CMT, to improve the quality of lifefor people with CMT and, ultimately, to find a cure.OUR VISION: A World Without CMT.

Walk This Way....see page 14

CMTA CORPORATE

PARTNERS:

AETREX WORLDWIDE, INC.ALLARD, USABALANCE WALKING

FOOT SOLUTIONSGENEDXHANGER CLINICKINETIC RESEARCHTURBOMED ORTHOTICS

CMTA STAR ALLIANCE

PARTNERS:

ACCELERON PHARMA

ARQ GENETICS

CHARLES RIVERGENZYME, A SANOFI COMPANY

HUMANFIRST THERAPEUTICS LLCHORIZON DISCOVERYIONIS PHARMACEUTICALS

INFLECTIS BIOSCIENCETHE JACKSON LABORATORYNCATS (NIH) NEW YORK STEM CELL FOUNDATIONPSYCHOGENICS

REGENACY PHARMACEUTICALS

RENOVO NEURAL, INC.

CMTA LEADERSHIP

CMTA STAFF

Amy J. Gray, CEO

BOARD OF DIRECTORS

Gilles Bouchard, ChairmanGary Gasper, TreasurerHerb Beron, SecretaryThomas W. Dubensky, Jr., PhDLaura FavaAlan KorowitzSteve O’DonnellChris OuelletteElizabeth OuellettePhyllis Sanders, Esq.Steven Scherer, MD, PhDMichael Shy, MDJohn Svaren, PhDLawrence Wrabetz, MD

Special Advisor to the BoardBruce Chizen

ADVISORY BOARDJonah BergerGregory Carter, MD, MSKen Cornell, COBob DeRosaKaty Eichinger, PT, DPT, NCSAshraf Elsayegh, MD, FCCPTim Estilow, OTR/LShawna Feely, MS, CGCValery Hanks, OTR/L, C/NDTSarah KestyKate LairSean McKale, CO, LOBethany Noelle MelocheTom MelocheDavid Misener, BSc (HK), CPO, MBAElizabeth Misener, PhD, LMSWJames Nussbaum, PT, PhD, SCS, EMTSabrina Paganoni, MD, PhDGlenn Pfeffer, MDClark SemmesCarly Siskind, MS, CGCGreg Stilwell, DPMDavid Tannenbaum, LCSWAmy Warfield, PT, DPT

Andi Cosby National Events Manager, [email protected] Nagel Marketing Coordinator, [email protected] Magee Director of Finance and Administration, [email protected] Richardson Director of Community Outreach, [email protected] Sweeney Director of Development, [email protected]

STAR ADVISORY BOARDJohn Svaren, PhD, Chair, Scientific Expert BoardMark Scheideler, PhD, Chair, Therapy Expert BoardMichael E. Shy, MD, Co-Chair, Clinical Expert BoardMary Reilly, MD, Co-Chair, Clinical Expert Board

SPRING 2019 THE CMTA REPORT 3

DEAR FRIENDS,

In the last issue of The CMTA Report, I told you about the CMTA’sefforts on the gene therapy front and expressed my hope that genetherapy for CMT will become a reality in the near future. That future

is now: In this issue, you’ll read the exciting story of how members ofthe CMTA’s STAR network of researchers came together to set up thefirst gene therapy trial for CMT2D. While the trial involves just one person—6-year-old Caroline Fletcher—the lessons learned from it couldultimately benefit other 2D patients (page 4).

We are also thrilled to announce we are co-funding a CMT Type 1 Gene Therapy Projectwith the Muscular Dystrophy Association. The project is geared at developing a treatment for CMT1X, and, if successful, could have lessons that apply to all demyelinating types—allType 1s and most Type 4s (page 11).

In this issue of The CMTA Report, you’ll also hear from two of our younger community members, Vittorio and Olivia, about their perspectives as patients living with CMT. There isvaluable information about pulmonary rehab in our Ask the Expert section, and so much more,including the list of local CMTA Branches and Centers of Excellence where you can receiveexpert care from a CMT-trained neurologist in a multi-disciplinary setting.

Finally, we are proud to unveil in this issue our refreshed logo. As you will read on page 16,we have refreshed our visual identity as an organization to demonstrate our renewed commit-ment to the community. We will be unveiling other transformations later this year, including ournew website. Our aim is to provide the CMT community with the most comprehensive resourcespossible.

Your contributions make our progress possible. Thank you for all of the ways you supportthe CMTA.

AMY GRAY, Chief Executive Officer

A Message from CEO Amy Gray

WELCOME TO THE CMTA ADVISORY BOARD, KEN CORNELL

Ken Cornell, CO, is co-founder of Cornell Orthotics and Prosthetics in Peabody,Massachusetts, and the orthotist at the CMTA Center of Excellence at

Massachusetts General Hospital in Boston. He has focused on managing patientswith CMT for 25 years. Ken is past president of the New England Chapter of theAmerican Academy of Orthotists and Prosthetists. He has also been an educator fordynamic carbon ground reaction AFOs and their functional benefits for patientsdiagnosed with CMT. With his combined experience in gait training with AFOs,he manages patients orthotically to minimize deformity and restore a normal gaitpattern with improved balance and propulsion.

4 THE CMTA REPORT SPRING 2019

t 6 years of age,Caroline Fletcherweighs just 20pounds, mostof it seem-

ingly in her huge browneyes and masses of curlybrown hair. Her limbs areslimmed by the effects ofCharcot-Marie-Tooth dis-ease, which keeps herconfined to a wheelchair.Like all forms of CMT, Caro-line’s disease is progressive.At least, it always has been.But the Fletcher family hasnew hope for Caroline’sfuture. If all goes well in thenext 12 months, she’ll betaking part in a one-personclinical trial that could slowor stop progression of herdisease, buying time foradditional therapies to beexplored.

Caroline has CMT2D, oneof the rarest and most devastatingforms, occurring in only a fewthousand people in the UnitedStates. It affects her arms and legs.Unlike most other types, it alsoaffects her breathing. That’s whyher grandfather, Dr. StephenFletcher, a pediatric neurosurgeonin Houston, began exploringtreatment options five years ago.After some preliminary researchon the field, Fletcher emailed RobBurgess, PhD, at The JacksonLaboratory (JAX) in Bar Harbor,

Maine, asking if he could helpCaroline. Burgess told him, “I’ma mouse guy. I’m sorry but I justdo disease in mice. I don’t haveany clinical capacity.” Burgess put Fletcher in touch with theCMTA, which led to the collabo-ration among the Fletcher family,the CMTA, JAX and gene ther-apy expert Scott Harper, PhD, a principal investigator in theCenter for Gene Therapy atNationwide Children’s Hospitalin Columbus, Ohio.

Harper was working on some-thing called “knockdown” therapy.Typically, gene therapy employs asingle injection of an engineeredvirus that contains the geneneeded to correct a deficiency.Knockdown therapy, on the otherhand, gets rid of the expression ofthe bad gene. Caroline has a denovo mutation in her GARS geneand the protein it produces istoxic. Harper told Fletcher hewould look into it and in thecourse of his research he cameacross Dr. Burgess’ work on mice.Some six months after Burgess firstgot the call from Caroline’s grand-father, he got a call from Harper,who told him: “I know how to fixthis and we should try it in yourmice.” Burgess agreed and the roadto Caroline’s clinical trial began.

Burgess had already devel-oped a mouse with a mutation inthe GARS gene, albeit a slightlydifferent one than Caroline’s. Heset to work developing a mousewith her exact mutation. WhileBurgess was doing that, Dr.

A CLINICAL TRIALFOR CAROLINE

BY MARCIA SEMMES

A

Harper began designing and opti-mizing RNAi sequences. RNAi,which stands for RNA interfer-ence (RNAi) is a mechanism forsequence-specific gene silencingthat recognizes mutant genes andtargets them to be degraded. TheFood and Drug Administrationapproved the first-ever RNAisequence in August 2018.

The knockdown therapy—precisely an allele-specific-knockdown strategy using RNAi,processed through a microRNAshuttle vector and delivered by AAV9—worked on both mutations of the gene in mice.According to Dr. Burgess, whenthe mice received the therapy theday they were born, neuropathywas almost completely prevented.The benefits declined with time,he explained: The longer researcherswaited to give the therapy, the lessbenefit was realized. But evenwhen delivered after the onset ofneuropathy, mice still showed signsof benefit. The mice did not showsignificant regeneration and it isunclear whether human subjectswill regain function. Burgessnoted, though, that unlike micewho are simply put back in theircages after receiving the gene therapy, Caroline will have addi-tional treatments available to her,like occupational and physicaltherapies.

Burgess cited a number ofcompelling reasons for choosingCaroline for the clinical trial. Onewas the fact that her grandfather,who does in utero surgeries onfetuses with spina bifida and alsodoes research, was a “catalyst” forthe clinical trial. Another is thatCaroline has a “technicallyamenable mutation that is easier totarget,” Burgess said. A third is theseverity of her case: Dr. JerryMendell, who assessed Caroline inhis clinic at Nationwide Children’sHospital in January 2018,described her case as being morelike spinal muscular atrophy.

“It will be a race against time tosee if we get it through the FDA”in time for Caroline to benefit,Burgess said. Dr. Mendell, whoBurgess called “one of the leadersin gene therapy trials for childrenwith neuromuscular diseases,” willbe the principal investigator onCaroline’s clinical trial.

To get FDA approval, theresearchers will have to file anInvestigational New Drug (IND)application, which is a request forFDA authorization to administeran investigational drug to humans.The researchers are currently gath-ering materials for a pre-INDinquiry. They will have to showthat the proposed gene therapyworked in their models, provide

plans for toxicology and manufac-turing and produce a clinical planfor treating Caroline.

Approval for the clinical planin a single-person clinical trial doesn’t take as long as approval fora typical clinical trial, Burgessexplained, because there won’t belots of exclusion criteria with justone subject. In addition, the barfor toxicology is much lowerbecause researchers won’t have toshow, for example, that it’s safe forpregnant women. “The big chal-lenge” Burgess said, “is justifyingthat it’s worth doing.” In general,he said, the more severe the dis-ease is, the easier it is to make thatshowing. Burgess and his fellowresearchers are awaiting their lastfew mouse model results, whichthey’ll then submit for publica-

tion. They hope to file the INDthis spring.

Caroline’s trial is just the firststep, though. “We got this far witha treatment specific to Caroline’smutation,” Burgess said, notingthat the RNAi sequence developedby Dr. Harper only matches Caroline’s mutation. But if thisapproach works for her, theknockdown approach could applyto other CMT2D cases. Providingfurther support for the CMTA’sdecision to support Caroline’s clin-ical trial, the Harper and Burgesslabs just received notice of anaward from the National Institutesof Health for a relatedapproach that wouldapply to any GARS

mutation, showing thattheir work has meritand longevity beyondthe need to treat Caroline. If thoseresults are positive, researcherscould go on to try a “knockdownand replace” approach, whichwould get rid of good and badcopies of a given gene and then“replace the good stuff.” That gen-eral strategy might then apply toother types and other diseases likeALS and Huntington’s. “It’s anincremental process,” Burgess said,“and each one of these is a stepforward and lowers the bar for thenext step.”

Clinical trials and gene therapy approaches are expensive. If you’d like to contribute to Caroline’s clinical trial, visitwww.cmtausa.org/cure-caroline/. h


At the age of nine months, Caroline stopped crawling and

could no longer hold things.

To learn more about the CMTA’s gene therapy work, visit www.cmtausa.org/research/star-gene-therapy/.

The FDA’s drug approvalprocess involves five basicsteps. The discovery/conceptphase is the first, as researchfor a new drug or device

begins in the laboratory. In Step2, the pre-clinical phase, drugsand devices undergo laboratoryand animal testing to answer basicquestions about safety. Clinicaltrials follow, then FDA review andfinally FDA Post-Market SafetyMonitoring.

Clinical trials are simply stud-ies, or trials, in humans. Theyoccur only after researchers (ordevelopers) complete the FDA’s

Investigational New Drug (IND)process, which requires them to submit animal study data andtoxicity data, manufacturinginformation, clinical protocols(study plans) for studies to beconducted, data from any priorhuman research, and informationabout the investigator.

While preclinical researchanswers basic questions about adrug’s safety, clinical trials studythe ways the drug will interactwith the human body. They aredesigned to answer specificresearch questions related to amedical product and follow a spe-

cific study plan, or protocol, developed by the researcher ormanufacturer. Before a clinicaltrial begins, researchers reviewexisting information about thedrug, then decide who qualifies toparticipate (selection criteria), howmany people will participate, howlong the study will last, whetherthere will be a control group, howthe drug will be given to patientsand at what dosage, how to assessthe results and how the data willbe reviewed and analyzed.

Clinical trials follow a stan-dard progression, starting withearly, small-scale Phase 1 studies


CLINICAL TRIALS: A P R I M E R

In cases involving serious conditions with unmet medical needs, the FDA can “fast track” the drugapproval process in order to get important new drugs to patients sooner. Once a drug receives FastTrack designation, early and frequent communication between the FDA and a drug company is encouragedthroughout the entire drug development and review process. The frequency of communication assures thatquestions and issues are resolved quickly, often leading to earlier drug approval and access by patients.

CMTA partner Acceleron Pharmaceuticals announced in November 2018 that the FDA had granted Fast Track status to its ACE-083, an injectable drug intended to increase muscle mass and strength. Commenting on the designation, Robert K. Zeldin, MD, Chief Medical Officer of Acceleron, said: “Resultsfrom our Phase 2 trials have shown that patients treated with ACE-083 experience robust increases in muscle volume. If our ongoing clinical studies show that ACE-083 also improves functional outcomes andconfirm the favorable safety profile observed thus far, the Fast Track process could help us work with theFDA to deliver it to patients as quickly as possible.” Preliminary results from Part 2 of the trials are expectedby the end of 2019 for CMT.

FAST TRACK

THE CMTA’S STRATEGY TO ACCELERATE RESEARCH (STAR) continues to gather momentum, culminating in the clinical trials required before any drug or medical device reaches the market. CMT clinical trials currently include the two mentioned in this issue: Acceleron’s phase two trial for ACE-083 and the single-person clinical trial for CMT2D.

More clinical trials are on the way. To help readers understand what’s happening, we offer this primer on the Food and Drug Administration’s drug approval process. For a more in-depth look, see www.fda.gov/ForPatients/Approvals/default.htm. To see what clinical trials are recruiting patients with CMT, visit www.clinicaltrials.gov.


lasting several months and involv-ing 20 to 100 volunteers with thedisease. Phase 1 studies aredesigned to assess safety anddosage. Approximately 70 percentof drugs move on to the nextphase.

Phase 2 studies have up toseveral hundred people with thedisease/condition and can lastfrom several months to two years.Their purpose is to examine thedrug or device’s efficacy and sideeffects. Some 33 percent of drugsmove on to the next phase. Phase3 trials look at the drug’s efficacyand monitor subjects for adversereactions. Some 300 to 3,000 volunteers with the disease partic-ipate in Phase 3 studies, whichlast from one to four years, with25 to 30 percent of drugs movingon to Phase 4. Several thousandvolunteers with the disease takepart in the Phase 4 study, whichlooks at the drug’s safety and efficacy.

FDA REVIEWOnce the FDA receives an NDA,the review team decides if it iscomplete. If not, the review teamcan refuse to file the NDA. If it iscomplete, the review team has sixto 10 months to make a decisionon whether to approve the drug.

If the FDA determines that adrug has proved safe and effectivefor its intended use, it works withthe applicant to develop andrefine prescribing information, or“labeling.” Labeling accuratelyand objectively describes the basisfor approval and how best to usethe drug.

In many cases, issues remainto be resolved before the drug isapproved for marketing. Some-times the FDA requires thedeveloper to address questionsbased on existing data. In othercases, FDA requires additional

studies. If the NDA doesn’t con-tain sufficient data for the FDA todetermine the safety and effective-ness of a drug, it may organize ameeting of one of its AdvisoryCommittees to get independent,

expert advice and to permit the public to make comments.These Advisory Committeesinclude a Patient Representativewho provides input from thepatient perspective. h

C linical trials for rare diseases, which affect fewer than 200,000 people in

the United States, present additional challenges. Populations are small, limiting opportunity for study andreplication. Genetic disorders like CMT are often characterizedby wide range of severity, clinical presentation and rate ofprogression. Rare diseases are often poorly understood andnatural histories incompletely described. Diagnosis is oftendifficult, with years between presentation and diagnosis. Many rare diseases are serious or life-threatening, and manywho have them have unmet medical needs. Regulatory and drugdevelopment precedent is often lacking, as are outcomeassessment tools.

The FDA is currently funding studies on the possibility ofusing natural history models to augment the need for placeboarms in studies of drugs that target very rare diseases, wheretrial recruitment can be challenging. “We believe these importantstudies will provide key information about how these rare dis-eases develop and progress and can ultimately help in thedevelopment of models of disease behavior that can make thedevelopment process more efficient,” FDA Commissioner ScottGottlieb, MD, said in announcing the grants. “We’ve been work-ing overtime to develop models that can simulate the behavior ofplacebo arms in the setting of very rare diseases, where recruit-ing for clinical trials can be especially hard.”

If a drug developer has evidence from its early tests and pre-clinical and clinical research that a drug is safe and effective forits intended use, the company can file a New Drug Application(NDA) to market the drug. The FDA review team thoroughlyexamines all submitted data on the drug and makes a decisionwhether to approve it. The NDA’s purpose is to demonstrate thata drug is safe and effective for its intended use in the populationstudied. Along with clinical results, developers must include pro-posed labeling, safety updates, drug abuse information, patentinformation, data from studies conducted outside the UnitedStates, institutional Review Board compliance information anddirections for use.

CLINICAL TRIALSFOR RARE DISEASES


While researchers haveidentified more than 90 mutated genes thatcause CMT, approxi-mately 50 percent of

CMT2 patients do not yet have a definitive genetic diagnosis. Dr. Stephan Züchner at the University of Miami is working to change that, spearheading anambitious project to identify newdisease-causing mutations inpatients seen in the InheritedNeuropathies Consortium (INC).The INC is an integrated groupof academic medical centers,patient support organizations, andclinical research resources dedi-cated to conducting clinicalresearch in different forms ofCMT and improving the care ofpatients. Funded primarily by theNational Institutes of Health(NIH) with supplemental fundingfrom the Charcot-Marie-ToothAssociation and the MuscularDystrophy Association, the INCplays a key role indeveloping the infra-structure necessaryto evaluate CMTtherapies.

“The work inZüchner’s lab alignsperfectly with theCMTA’s Strategy to AccelerateResearch (STAR),” CMTA CEOAmy Gray said. “Funding thisproject is another way the CMTAsupports the development of ther-apies for the CMT community,”she added, explaining, “As we dis-cover more of the genetic causesof the unidentified forms of

CMT, we can strategically targetthem with potential therapies.”

Züchner and the team ofUniversity of Miami and INCresearchers use purpose-developedsoftware, the GENESIS platform,to perform large-scale exome andgenome analysis on the DNA ofpatients with CMT2 (among oth-ers), which primarily affects theaxons of motor and sensory neu-rons. Up to half of all individualswith CMT have CMT2, orapproximately 1 in 5,000 people.

For those who haven’t keptup with the rapidly changing fieldof genomics, determining theorder of DNA building blocks(nucleotides) in a person’s geneticcode is called DNA sequencing.Two other methods—wholeexome sequencing and wholegenome sequencing—rely on newtechnologies that allow for rapidsequencing of large amounts ofDNA. These approaches areknown as next-generation, or

next-gen, sequencing.Next-generationsequencing has spedup the process, takingonly days to weeks tosequence a humangenome, while reducing the cost.

With next-generationsequencing, it is possible tosequence large amounts of DNA,such as all the pieces of an indi-vidual’s DNA that provideinstructions for making proteins.These pieces, called exons, arethought to make up some 2 per-cent of a person’s genome.

Together, all the exons in agenome are known as the“exome,” and the method ofsequencing them is known aswhole exome sequencing. Becausemost known mutations that causedisease occur in exons, wholeexome sequencing is thought tobe an efficient method to identifypossible disease-causing muta-tions. Ultimately, however, thefield is gradually moving to wholegenome sequencing, an approachthat produces nearly 10 to 20times more data. This is partiallydriven by the observation thatDNA variations outside the exonscan affect gene activity and protein production and lead togenetic disorders—variations that whole exome sequencingwould miss. Many more patientswill potentially receive a geneticdiagnosis when whole genomesequencing analysis is fully established.

CMTA-Funded Research Database for CMT2 Identifies New Disease-Causing MutationsBY MARCIA SEMMES

Dr. Stephan Züchner

Next-generationsequencing hastransformed thegenetics field.

CMTA CENTERS OF EXCELLENCEwww.cmtausa.org/coe

CMTA CENTER OF EXCELLENCE CLINICAL DIRECTORCedars-Sinai Medical Center (Los Angeles)...................................Drs. Robert Baloh and Richard LewisChildren’s Hospital of Philadelphia (Philadelphia)..........................Dr. Sabrina YumChildren’s Hospital of Pittsburgh (Pittsburgh)*.............................Dr. Hodas Abdel-HamidConnecticut Children’s Medical Center (Farmington).....................Dr. Gyula AcsadiHospital for Special Care* (New Britain, CT) .................................Dr. Kevin J. FeliceJohns Hopkins University (Baltimore) ...........................................Dr. Thomas LloydLucile Packard Children’s Hospital at Stanford (Palo Alto) ............Drs. John Day and Ana Tesi RochaMassachusetts General Hospital (Boston).....................................Dr. Reza SeyedsadjadiNemours Children’s Hospital (Orlando) .........................................Dr. Richard FinkelNorthwestern Memorial Hospital (Chicago)*.................................Dr. Daniela Maria MenichellaOhio State University (Columbus) .................................................Dr. Amro StinoOregon Health & Science University (Portland)*...........................Dr. Chafic KaramStanford Neuroscience Health Center (Palo Alto) .........................Dr. John DayUniversity of Florida (Gainesville)* ................................................Dr. James WymerUniversity of Illinois at Chicago (Chicago)*...................................Dr. Charles K. AbramsUniversity of Iowa (Iowa City) ......................................................Dr. Michael Shy University of Miami (Miami) ..........................................................Dr. Mario SaportUniversity of Michigan (Ann Arbor)*.............................................Dr. Dustin NowacekUniversity of Minnesota (Maple Grove) ........................................Dr. David WalkUniversity of Missouri (Columbia).................................................Dr. Raghav GovindarajanUniversity of North Carolina (Chapel Hill)*....................................Dr. Rebecca TraubUniversity of Pennsylvania (Philadelphia) .....................................Dr. Steven SchererUniversity of Pittsburgh Medical Center (Pittsburgh)* ..................Dr. Sasha ZivkovicUniversity of Rochester (Rochester, NY) ......................................Dr. David HerrmannUniversity of Texas Southwestern (Dallas)* ..................................Drs. Susan Iannaccone and Diana CastroUniversity of Utah (Salt Lake City).................................................Dr. Russell ButterfieldUniversity of Washington (Seattle) ................................................Dr. Michael WeissWayne State University (Detroit) ...................................................Dr. Jun Li*These Centers of Excellence are not part of the INC.

INTERNATIONALThe Children’s Hospital (Westmead, Australia)..............................Dr. Manoj MenezesThe National Hospital for Neurology& Neurosurgery (London, England) ..............................................Dr. Mary ReillyC. Besta Neurological Institute (Milan, Italy) .................................Dr. Davide PareysonUniversity of Antwerp (Edegem, Belgium).....................................Dr. Jonathan Baets

CMTA CENTERS OF EXCELLENCE are patient-centric, multidisciplinary CMT clinicswhere children, adults and families affected by CMT can be assured of receivingcomprehensive care by a team of CMT experts. The Centers roughly correspond to the21 international sites that make up the NIH Inherited Neuropathies Consortium (INC)—a group of academic medical centers, patient support organizations and clinicalresearch resources sponsored in part by the CMTA. The centers will become even moreimportant as the CMTA begins clinical trials, which will depend on how much we knowabout the “natural history” of CMT—how different types of CMT progress over time andwhether novel medications are slowing the course of the disease. Much of thatinformation will be supplied by the Centers of Excellence.


As Züchner explains it, “Next-generation sequencing hastransformed the genetics field. We use clinical, bioinformatics,and molecular approaches tostudy the outcome of large scaleexome and whole genomesequencing projects in pursuit ofidentifying and understanding thefunction of known and novel dis-ease genes for neuromuscular andneurodegenerative disorders.”

The massive amounts of dataZüchner and his colleagues col-lect goes into two user-friendlydatabases: the GENESISgenomics analysis platform andthe Inherited Neuropathy VariantBrowser, where CMT neurolo-gists and scientists worldwide cananalyze and share their CMTdata with ease and add detailedclinical observations. They canalso leave suggestions for newCMT genes to be added and ratethe pathogenicity of any geneticvariants. The project is equally

important for diagnosis recom-mendations and for continueddiscovery research. Each newcause of CMT yields importantclues and potential drug targetsfor CMT2. Even though differ-ent genes are mutated in differentCMT2 forms, there is increasingevidence of underlying linkagesbetween diverse types of CMT2that will enable therapies that canwork with multiple forms of thedisease. h

Stephan Züchner, MD, PhD, MD (hc),FAAN, is a Professor of Human Geneticsand Neurology at the University of MiamiMiller School of Medicine, Chairman ofthe Dr. John T. Macdonald FoundationDepartment of Human Genetics and theCo-Director of the Hussman Institute for Human Genomics. He is also the Co-Chair of the CMT and Related Disor-der section of the Peripheral Nerve Societyand a member of the CMTA’s ScientificAdvisory Board. Dr. Züchner has beeninvolved in the discovery of more than 50 disease-causing genes, including theMFN2 gene, which accounts for more than 20 percent of all CMT2.

ACE-083 GETSORPHAN DRUGDESIGNATION

T he FDA granted orphan drug designation to Acceleron Pharmaceuticals’ ACE-083 for

CMT on March 5. The FDA Office of OrphanProducts Development grants this designationto advance the evaluation and development ofsafe and effective therapies for the treatment ofrare diseases or conditions affecting fewer than200,000 people in the U.S. Under the OrphanDrug Act, the FDA may provide grant fundingtoward clinical trial costs, tax advantages, FDAuser-fee benefits, and seven years of marketexclusivity in the United States followingmarketing approval by the FDA.

The orphan drug designation does notalter the standard regulatory requirements andprocess for obtaining marketing approval.


Two CMTA branch leaders are leading more than just theirbranches: They’re also setting an example for the commu-nity on how to help the CMTA through monthly giving.Scheduled monthly giving helps the CMTA plan ahead and

make decisions about which research projects to fund. It alsohelps the giver budget and plan—and make donations beforeyear’s end, when holiday gift-giving considerations can cause acash crunch.

Central New Jersey Branch Leader Mark Willis describeshis monthly giving as “a unique situation.” His company has ahuge United Way drive each October, he explains, when dona-tions are matched by 50 percent. Employees can designate aspecific charity to receive their donations, “If you choose thisroute,” he says, “100 percent of your donation plus the com-pany’s 50 percent match goes directly to your selectedorganization and not to the general United Way CommunitySafety Net. It is even paid in one lump sum while my deduc-tions are spread over the whole year.”

Mark describes his monthly giving as a win/win/win: “It’s great for budgeting; it’s taken before I see it; and it grows to more than I gave myself! How awesome is that?”

This is not Mark’s total giving to the CMTA: He doeswhat he can to support his friends’ efforts and the New JerseyWalk 4 CMT. “However,” he says, “this regular donationassures a bonus to the CMTA and makes the bulk of my giving easier and more affordable.”

Erie, PA Branch Leader Joyce Steinkamp agrees: “Monthlydonations are my unwavering fight for the CMTA’s mission—to support the development of new drugs to treat CMT, toimprove the quality of life for people with CMT, and, ulti-mately, to find a cure.”

Joyce finds that “Monthly giving is the easiest way tostand up and fight, without fail, for STAR and the mission ofthe CMTA. I dream of a world without CMT, and I believeSTAR is our best hope of getting there.”

If you want to make a lasting difference in the CMTA community, please sign up to be part of the new INNERVATOR monthly giving program and leave an indelible footprint on the lives of present and future generations.Join now at www.cmtausa.org/monthly.

Monthly Giving Benefits CMTA and Donors

The CMTA and the MuscularDystrophy Association(MDA) announced March 1that they have jointlyawarded a research grant

totaling $276,430 over three yearsto Kleopas Kleopa, MD, professorand senior consulting neurologistat the Cyprus Institute of Neurol-ogy and Genetics, Cyprus Schoolof Molecular Medicine, in Nicosia,Cyprus. Dr. Kleopa is a world-renowned expert on genereplacement therapy for CMT1X,the second-most-common form of Charcot-Marie-Tooth disease.

Mutations in the gene codingfor the gap junction beta-1 protein(GJB1), also known as connexin32 (Cx32), are associated with theX-linked form of CMT(CMT1X), which affects approxi-mately 1 in 25,000 people. Usingthis grant funding, Dr. Kleopa willperform critical, proof-of-conceptstudies to test whether delivery ofthe Cx32 gene using an adeno-associated virus (AAV) vector canimprove symptoms in a mousemodel of CMT1X as well as deter-mine the optimal route fordelivery of the therapy.

AAV vector technology hasbeen shown to be a safe and effec-tive delivery vehicle for“corrective” gene replacementtherapy in both preclinical andclinical studies. There have beenseveral successful applications ofAAV vector gene replacementtherapy for genetic diseases of thenervous system. For example,AveXis, a Novartis company, cur-rently has a Biological LicenseApplication (BLA) under reviewby the Food and Drug Adminis-tration (FDA) for their genereplacement therapy for spinalmuscular atrophy (SMA), which

has shown encouraging results in aPhase 1 clinical trial.

“The study is yet another stepon the road to realizing our hopethat in the not-too-distant future,gene therapy for CMT will be areality beyond the lab, “saidCMTA CEO Amy Gray. “Thisproject builds upon our prior jointefforts to take gene therapy forCMT1X to the next phase, buteven more importantly, if success-ful, learnings will be applied to alldemyelinating forms of CMT(Type 1 and most Type 4).”

“Gene therapy continues toshow promise for the treatment ofneuromuscular disease,” saidAmanda Haidet-Phillips, PhD,one of the MDA’s scientific port-folio directors. “MDA is hopefulthat this new, translational workmay pave the way for gene therapyto be developed for CMT and weare grateful for the partnership ofthe CMTA to help accelerate thisimportant study forward.”

With previous MDA-fundedsupport, Dr. Kleopa pioneered agene therapy approach to treat theX-linked form of CMT, showingthat a single spinal injection of theCx32 gene was associated withproduction of normal protein innerves and improvement ofperipheral nerve health and motorperformance in a mouse model ofCMT. In a follow-up study co-funded by the MDA and theCMTA, he examined whetherrepeated injections in mice led toincreased protein levels and testedwhether treatment at later stagesof the disease led to improvementlike that seen for treatment in theearly stages.

The target cell type for thistherapy is the Schwann cell, whichgenerates the insulating myelin

sheath around peripheral nerves.The challenge for CMT1X andother demyelinating forms ofCMT is optimizing delivery of thegene to Schwann cells. In previousstudies, Dr. Kleopa employed adifferent type of viral vector todeliver the Cx32 gene, but for thisnew study he will adapt thisapproach to AAV, which has beenmore widely used in the nervoussystem and shown promise in clin-ical studies for other diseases. Theproject will test several types ofAAV and different injection para-digms to determine the bestmethod to restore the function ofCx32 in Schwann cells. Positiveresults may help advance develop-ment of treatments for other typesof CMT affecting Schwann cells,as a similar AAV approach can beapplied to CMT1A and othersubtypes of CMT1.

Dr. Kleopa recently joined theCMTA’s Scientific Advisory Board,along with three other gene ther-apy experts, reflecting the field’sexpanding importance in thesearch for a cure for CMT.

The MDA and the CMTAhave been working together since2016 to advance CMT research,therapy development and clinicalcare, and to increase understandingabout the disease by improvingeducation for children and adultsaffected by CMT, medical profes-sionals, and the public. h


CMTA and MDA Co-Fund StudyOn Gene Replacement Therapy for CMT1X

Dr. Kleopas Kleopa of the Cyprus Institute ofNeurology and Genetics


My name is Aimee. I am an occu-pational therapist in Washingtonstate, working with a patient whohas a form of CMT with respiratorycomplications. My main question is:Do you know of anyone who hasdone any studies about simpleexercises to help encourage betterbreathing in patients with phrenicnerve involvement? Also, I haveheard that scoliosis is often associ-ated with CMT. What does this haveto do with only one phrenic nervebeing involved, and are there casereports of anyone having bilateralparalysis of the phrenic nerves?

Dr. Ashraf Elsayegh answers:Pulmonary rehabilitation hasproved beneficial in patients withobstructive pulmonary disordersand restrictive pulmonary disor-ders. While I am aware of nostudies on the benefits of exerciseon neuromuscular patients, thereare suggestions by multiple health-care professionals worldwide thatpulmonary rehabilitation shouldhave some benefit for this popula-tion. I have started to send someof my neuromuscular patients toour pulmonary rehabilitation cen-ter to see if and how they benefit.

One of the goals of a pul-monary rehabilitation program isupper (and lower) extremitystrengthening. To exercise theremaining respiratory muscles(intercostal muscles and thediaphragm), there are commer-cially available devices (expiratorymuscle strength trainers like theEMST and The Breather) thatmay be beneficial. The theory isthat using these devices, whichrequire one to breathe deeplyagainst a pressure, will strengthenthose specific muscles. However,

there are no studies that I amaware of that look at the CMTpopulation and usage of thesedevices. There are a few very smallstudies in the ALS (AmyotrophicLateral Sclerosis) population fromwhich we can extrapolate somedata for the CMT population.The data in ALS patients wasobtained mostly from small stud-ies (15–25 patients) in Florida.The results of the studies thus farhave revealed a mild improvementin maximal expiratory pressuresand a mild improvement in coughability. The devices were well toler-ated by the patients. However,further larger studies are neededbefore a firm conclusion can bereached. There is a larger studycurrently ongoing now. It isimportant to note that neuromus-cular patients should only usethese devices once a day for a totalof five breaths (three to five timesper week), with the device set at50 percent of maximal expiratorypressure.

The benefits of consciousbreathing—the technique of tak-ing deep breaths such as in yoga ormeditation—have not been stud-ied. However, it falls into the samecategory as pulmonary rehabilita-tion programs: There may besome minimal benefit, but it hasnot been confirmed as of yet.Again from personal experience, Ihave noticed that it is very benefi-cial to overcome anxiety-relatedbreathing issues in this patientpopulation.

In neuromuscular disease,phrenic nerve damage is a signifi-cant concern as it innervates thediaphragm. As far as phrenic nerveparalysis, in general unilateral

nerve paralysis is secondary totrauma or surgical damage. Bilat-eral phrenic nerve paralysis isalmost always due to neuromuscu-lar disease. Bilateral damage iscommon in neuromuscular dis-eases such as ALS, but much lessso in CMT.

Scoliosis is much more com-mon in CMT patients. Althoughscoliosis rarely affects phrenicnerves, it produces its own set ofbreathing problems. Severe scolio-sis is associated with developmentof restrictive lung pathology,which leads to shortness of breathand respiratory failure. Therefore,patients with significant scoliosisshould be monitored carefullywith pulmonary function testingfor early detection of respiratoryissues. h

Ashraf Elsayegh, MD,FCCP, is an expert in thefield of pulmonary medicineas it relates to neuromuscu-lar disease and a member ofthe CMTA Advisory Board.He currently practices at

Cedars-Sinai Medical Center in Los Angelesand is an associate clinical professor atUCLA School of Medicine. His clinical andresearch interests revolve around respiratoryfunction in the neuromuscular patient, withspecial interest in diaphragm dysfunction. Dr. Elsayegh has treated neuromuscularpatients, including those with ALS andCMT, over the last 15 years.

ASK AN EXPERTQADoes pulmonary rehabilitation work for patients with CMT?


My back hurts, I can’t keep upwith all the new trends, and I’vebegun sighing the way my grand-father does when people get a littletoo chatty. I may not be forward-stooping, “walked-a-mile-uphill”old, but things are changing toofast for me to keep up with. Idon’t think anyone can really keepup with all of it anymore. Butwhat keeps me filled with youthfulglee are the recent events that haveoccurred with my CMT.

In August 2018, I visited Dr.Michael Shy’s CMT clinic at theUniversity of Iowa for the thirdtime. I learned that his team hadsuccessfully identified the muta-tion that caused my formerlyundiscovered subtype of CMTType 4. They explained that adeletion of a single DNA base pairon Chromosome 15 sparked mynerve damage. Since my first visitthree years ago, what little musclethat remained on my calves hadbeen gnawed to the bone by nervedamage. Fortunately, there werefew signs of the neurological dam-age progressing any further.

I never really cared aboutwhat type I had until I learnedwhat type I had. A certain aura ofuncertainty hung around my con-dition since I was diagnosed sevenyears ago. Like some weird four-headed thing washed up on a dirtybeach, I kept asking myself “Whatis it?” A lot of my fear aboutCMT came from what I did notknow about it. It was like beingtrapped in a dark forest: I wasn’tscared of the dark, I was scared ofwhat could be lurking in the dark.

But now I can look it in the faceand see how fortunate I am. Itseems to be a fairly mild type andI met another older gentleman atthe clinic with the same subtypewho was just as physically active asanyone else.

Less than a week after thatvisit to Iowa, I ran my first fullmarathon in Vermont. (I knowwhat you’re thinking: “Oh no, ishe one of those insufferable peoplewith a 26.2 sticker on his rearwindshield now?” The answer isno: I share a car with my youngersister, who has not run amarathon, and I don’t want hertaking credit for my marathonwhile she’s out and about.) I hadtrained for the previous fivemonths to run 26.2 miles acrossSouthern Vermont into WesternMassachusetts. I ran in a pair ofTurbomed braces and the biggestknee brace I could find on my leftleg to prevent my chronic runner’sknee from flaring up. Luckily, Iheld my body together withenough Velcro, plastic, compres-sion tape and naiveté to get meacross the finish line in six hours.

I’ve never craved McDonald’schicken nuggets and fries more inmy entire life than when I gothome after finishing. I also could-n’t walk for two days after. Istepped off of a curb too quicklyand it felt like every fiber in myquadriceps disintegrated down tothe molecular level. I definitely seemyself doing this again eventually,but I’m probably going to try tocross something else off my bucketlist first.

I started a six-month intern-ship at a biopharmaceuticalcompany called Acceleron Phar-maceuticals in January. Located inCambridge, Massachusetts, thecompany is currently in phase twotrials of a muscle-growing drugthat targets several neuromusculardiseases, including CMT. I’mworking in the drug formulationsdepartment alongside a team ofscientists to develop the properformula to ensure the drug worksas efficiently as possible. I’m justlearning all of the lab protocolnow, but I hope to take on a smallproject in the department in thecoming months. It’s a very oddposition to be in. My job is to

From Diagnosis to Marathon to Lab in Five Months: A Patient’s Perspective

BY VITTORIO RICCI

(continued on page 26)

I always imaginedbeing diagnosedand hearing thenews of a treat-ment for CMThappening overthe course of mylifetime, not overfive months.

Iam getting old. I’m 21, three years into afive-year bioengineering degree at North-

eastern University in Boston, and I feel old.


Hosting a Walk 4 CMT createsa huge impact, generating

crucial funds for research andbuilding community. CMTA BoardMember Herb Beron, a veteran ofnumerous CMTA fundraisers,affirms: “Bringing local communitiestogether for a common cause is critically important. You see it withso many charities, starting at thegrassroots level and building outawareness. Much of the workthat happens in smallerorganizations like theCMTA needs to be ona local level. Friendsand family rally andturn out for CMTers intheir hometown.”

That’s just what happened lastSeptember for the very first time inMorristown, New Jersey. CentralNew Jersey Branch Co-Leader MarkWillis explained, “Doing a walk wasa long-time dream for me and oftendiscussed at branch meetings. Ours isa very transient group and member-ship is very fluid, so finding someoneto lead such an event was alwaysproblematic. My life as a person withCMT, working a wonderful butdemanding job and having someserious health issues in my immedi-ate family, just meant I could not doit all myself. Then Andi Cosby cameinto the CMTA and she rolled out aprogram and found a location. Howcould you say no to such energy?”

“Walks are about so muchmore than walking,” CMTA NationalEvents Manager Andi Cosby says.“They bring local patients, familyand friends together to empowerone another. Participants set theirown fundraising goal, and there isno registration fee.” Andi, who

joined the CMTA in December 2017with 15 years’ experience in walkcampaigns, told The CMTA Report:“We want everyone to be able to bea part of these energizing events.The CMTA strives to provide turnkeymaterials for successful fundraisingat all comfort levels.”

In preparation for the Morris-town event, the CMTA sentsave-the-date postcards to CMTAmembers in the area. The nationalorganization also sent emails andposted on social media to promoteMorristown’s Walk 4 CMT. Markasked branch members to spreadthe word as well. Participants registered at

www.Walk4CMT.org, whichthey used to create their

own fundraising pagesto solicit donations fromfamily, friends and co-

workers. Walk leadersLori Mattheis and Mark

secured food and entertain-ment for all to enjoy.

The result was an afternoon offamily fun with more than 100walkers in attendance, all of theminvested in finding a cure for CMT.Donuts, snacks and drinks weredonated, as well as entertainmentby a DJ, face painters and a balloonartist. Past Camp Footprint atten-dees encouraged other kids to cometo camp in 2019. Newly diagnosedCMT patients were welcomed and shared experiences and informationwith fellow CMTers. It was a fun,moving event that generated over$13,000 in revenue for the CMTA.

“Walks and runs can be intimi-dating for people with CMT, but aWalk 4 CMT is something special forus,” Mark said., “The majority ofthe people walk just like you! Somedon’t even walk,” he added, “Theyride their scooters. This was so muchmore of a community than anyother fundraising event I’veattended.”

Herb Beron, who took part in the Morristown walk, offeredvaluable advice about the ease ofgetting started as a fund raiser: “It’s all trial and error. Nobody isborn with the skill to organize afundraiser, but we’ve all beensolicited enough to know whatworks and what does not. Don’t beshy—people in general want to giveto charity, and they’re most likely to give to things that have specialmeaning to them. Tell as much ofyour story as possible—again, themore you can make emotional con-nections with potential donors, thebetter. Also, always mention corpo-rate matching programs as most bigcompanies will match their employ-ees’ charitable contributions. Andlastly, often smaller companies willwant to get involved, especially ifthe cause is local. Knock on doors oflocal businesses and see if they’llsponsor the event. There’s usually anopportunity for publicity … they’llbe thrilled to have their names outthere.”

WALK THIS WAY:Morristown, New Jersey


In addition to the Morristownwalk, Walk 4 CMT events were heldin 30 different locations nationwidein 2018, bringing together morethan 1,500 people who care aboutfinding a cure for CMT.

In 2019, the CMTA wants tohelp create more opportunities forCMT patients and caregivers tocome together to bond, show com-radery and fundraise for the criticalresearch that will fund treatments,and ultimately a cure. CMTA staffprovide turnkey resources for any-one who wants to host a Walk 4CMT event. There’s even an onlinetool box with step-by-step instruc-tions for a successful event:www.cmtausa.org/walk4cmt-tool-box. To learn more, email Andi [email protected]. She can helpeven if you’re experienced at hold-ing walks: Baltimore branch leaderClark Semmes reports that for thelast Oxford “Funathlon,” Andi cameup with the brilliant idea of divert-ing the walk past a local ice creamparlor and negotiated $2 cones with the owner.

Special thanks to the 31amazing Walk Leaders whovolunteered their time andefforts to make the Walk 4CMT events possible!

Extra applause to the walkswith over 100 attendees and those that raised over$10,000!

TOP ATTENDANCE1. Peaks Island, ME—Marie Louie2. Chicago, IL*—Jay Pate3. Morristown, NJ*—Lori Mattheis & Mark Willis4. Parkland, FL*—Lara Rustici5. Lakewood, OH—Erin Black6. Washington, D.C.*—Maureen Dufresne & Steve Weiss7. Los Angeles, CA*—Alani Price8. Pittsburgh, PA—Debbie Czarnecki9. Palo Alto, CA*—Ori Bash & Tau O’Sullivan10. Dallas/Ft. Worth, TX—Thomas Roderiguz

TOP FUNDRAISERS1. Palo Alto, CA*—Ori Bash and Tau O’Sullivan2. Washington, D.C.*—Maureen Dufresne & Steve Weiss3. Atlanta, GA—Jeannie Zibrida4. Parkland, FL*—Lara Rustici5. Milwaukee, WI—Frank Gess6. Chicago, IL*—Jay Pate7. Boston, MA—Jill Ricci8. Morristown, NJ*—Lori Mattheis & Mark Willis9. Los Angeles, CA*—Alani Price10. Tampa, FL—Vicki Pollyea*Indicates Walk Sites that made both Top Attendance and Top Fundraiser lists.

The CMTA provides turnkey resources for anyone who wants to host a Walk 4 CMT event: www.cmtausa.org/walk4cmt-toolbox. To learn more, email Andi Cosby at [email protected].

For more than 35 years, theCMTA has supported theCMT community andinvested in the most promis-

ing treatment-oriented research.The CMT community has beenwith us every step of the way.That is why, when we embarkedon refreshing our logo and visualidentity, we reached out tomembers of the CMTA’s com-munity for input and guidanceon how best to showcase ourmission, goals and the people we serve.

Community membersresponded loud and clear. Wordslike “progress” and “momentum”came up time and time again.The word “community” and thesense these members had aboutbeing a part of a close-knit familyhas never been stronger. Onecalled the CMTA “a beacon ofhope,” explaining, “ThroughSTAR, we have seen so much

progress in research that the hopefor a cure is real!” Another mem-ber commented, “We feel a partof a community that is activelyworking with the CMTA to endthis disease.”

The CMTA’s new logo, whichwe are revealing for the first timein this issue of The CMTA Report,is only the third version in our 35-year history. We believe ourupdated look captures the progressof our Strategy to AccelerateResearch (STAR) and the dedica-tion of our unwavering supporterswho have backed us every step ofthe way. The STAR and its arch,which have been a part of theCMTA’s logo since 2008, havebeen rotated forward to highlightmore than a decade of progressand breakthroughs in CMTresearch. The STAR shinesbrightly, its vibrant orange repre-senting the energy and exuberanceof the CMT community.

“Through STAR and ourincredibly generous and engagedmembers, encouraging advance-ments have been made in thedevelopment of treatments forCMT,” said Amy Gray, CEO ofthe CMTA. “Our new logo repre-sents our promise of even morebreakthroughs at an acceleratedpace. We will not rest until we putan end to CMT.”

The launch of the new logofollows yet another landmark yearof research progress. With morethan 20 pharmaceutical andbiotechnology partners, theworld’s top CMT scientists collab-orating through STAR, and acommunity powering our efforts,the CMTA is leading the way to aworld without CMT.

In addition to a new logo,the CMTA will be launching a new website later this year. Stay tuned for more informationin the near future. h


LOGOS THROUGH THE YEARS

“Through STAR, we have seen so much progress in research that the hope for a cure is real!”

CMTA UNVEILS UPDATED LOGO

A contest for the first logo wasannounced in the Fall 1994CMTA Report and the winningdesign was announced inSpring 1995 CMTA Report.

The original logo was replacedwith a version that incorporatedthe star in the 2010 web redesign.The new logo appeared in theJanuary/February CMTA Report.

The CMTA’s Strategy to Accelerate Research (STAR) was launched in 2008 and the STAR Logo firstappeared in April 2008. The STAR Logo has beenupdated to a stand-alone star for 2019.


“She walks freakishly.” I had heard whispered variations ofthis statement my entire life. Buthearing it from Dr. Glenn Pfeffer,a world-renowned surgeon I haddriven 10 hours to meet, added anextra dose of disappointment.

I was diagnosed with Charcot-Marie-Tooth disease at age 9. Itseems like most of my life hasbeen spent traveling across thecountry, seeing specialists andhoping to find a solution. Thesetrips always ended in a disappoint-ing drive home, empty-handed.

I was always ashamed of mydisease. I made sure to be last in acrowd so no one would pay atten-tion to the way I walked. I skippedhomecoming because I couldn’twear high heels. After two failedsurgeries and seven broken bones, I gave up. I self-prescribed lace-uphigh tops to help me pick up myfeet. Although this worked enoughto get me through a school daywithout falling (most of the time),my mom never gave up the searchfor a solution.

One night during the springof my sophomore year of highschool, I sat in front of the com-puter crying tears of happiness.My mom’s years of research hadfinally led to an answer—a footand ankle specialist who haddeveloped a surgical treatment forCMT. By the end of the month I had scheduled an appointment,driven to Los Angeles, met Dr.Pfeffer, and after his jarring open-ing statement, learned that hewould change my life.

Dr. Pfeffer, a CMTA AdvisoryBoard member, is one of the mostinteresting, dedicated, and genuinepeople I have ever met. He spokein rhetorical questions, often

answering them himself. Every sooften, he looked up from hisglasses to ensure I was followingalong. I walked into his officeexpecting to be asked to do thingsI cannot do and then sent homewithout a treatment. But seeing“Charcot-Marie-Tooth Center” onthe wall of his office gave mesomething I had almost forgottenhow to feel: hope. During theconcluding moments of myappointment, he offered me some-thing no one else had:improvement. He told me hecould get me from a D- in walk-ing to a B+.

The next year of my life wasspent in and out of the hospital,

undergoing a tendon transfersurgery in which the tendons frommy toes, the only ones that work,were cut, split, and moved to thetop of my foot. I also had a cal-caneal osteotomy, partial anklefusion, my Achilles tendon length-ened and my plantar fasciacut—quite the mouthful of med-ical terminology, I know. At thesame time, I was doing my schoolwork from home on a makeshiftschedule to allow me to stay in theInternational Baccalaureate pro-gram while spending only 30minutes a week with my teachers.

During recovery, I had manyexpectations of what would

Lace-up High Tops (Self-Prescribed)BY OLIVIA LONGORIA

(continued on page 27)

Olivia, 17, is a high school senior.She lives in El Paso,Texas, where sheand her mother,JoAnn are CMTAbranch co-leaders.She’ll be attending Tulane University in the fall.


James McKenzie (Jim)Lea died in December2016, but at the CMTA

his memory will live for-ever. Jim, the inventor ofthe Therm-a-Rest self-inflating camping mattress,left a substantial portion of hisestate to the CMTA, ensuring thatchildren with CMT will grow upwith the hope of a world withoutthe disease. You could almost saythat he created a cushion againstthe hard ground for the CMTerswho come after him.

Jim was born in Tacoma,Washington, on October 22,1920. His family loved the out-doors and regularly went campingand hiking.

Jim first noticed signsof his CMT in his thirties,but he wasn’t diagnoseduntil his late fifties. Afterthat, he managed it byignoring it, workingaround his difficulties and

getting ahead with his day. It wasthe same sort of can-do attitudethat led him to create the Therm-a-Rest (and found an outdoorequipment company) after his 30-year career at the Boeing Companywas terminated in the largest com-pany-wide layoff in history.

The nonagenarian came lateto the CMTA, attending his firstmeeting in Seattle in 2012. Butonce he was in, he was all in,spreading awareness about CMT

and distributing flyers about thedisease at his 90th birthday party.Jim encouraged young people withCMT to “stay strong, accept thecondition, and find alternativeways to achieve your goals.”

Jim made sure that his deepconnection to the CMTA washonored when he died by includ-ing the organization in his will.Gifts like Jim’s to the CMTA’sLegacy Society help fund researchthat is already beginning to yield aharvest of promising results, withmore on the horizon. h

To learn more or to have a confidential conversation, please callCMTA Director of DevelopmentJeana Sweeney at 800-606-2682x106.

JIM LEA’S LEGACY


THE CMTA GRATEFULLY ACKNOWLEDGES GIFTS…IN MEMORY OF:LOUIS T. ALDRICHMs. Cathy Dean

VICKIE BABER-DIXMs. Shannon MageeMr. Gregory Rose

PAUL AND MONA BARKLEYMr. and Mrs. Richard Hodel

ANNAMAE C. BERLINMr. and Mrs. John Becker, Jr

NEIL I. BROHMMs. Yvonne Cali

RUTH CREASYMrs. Shirley Deyoe

DENNIS CUBBAGEMr. Anthony SessomsMs. Michelle Simmons

ALERTON T. DELANOMrs. Marianna Church

PRIMO DIPAOLOMs. Jessica Graham

NICKOLAS DUTKOVICHMs. Brenda BakosMs. Nancy McCutchne

FORD FARABOWMr. and Mrs. Sara Farabow

SARA C. FUHRMANMr. and Mrs. John Becker, Jr

MRS. SUE GANSSMr. Edward Ganss

BOSTON CALE GRAYMs. Mary Maier

CURTIS GRIFFITHMs. Natalie FolkeMs. Joyce MelchertMr. Richard Waltz

MARILYN GUILFOYLEMs. Andrea Mullen

FRANCES J. HILLMs. Barbara EbertThe Family

JOHN D. HILLThe Family

BARRY D. HOBSONMr. and Mrs. Don Gray

IRMA JAFFEMr. and Mrs. Samuel Jaffe

FLORA JONESMs. Cindy Chesteen

ELLEN KANAREKMr. William KorffNJ/NY Bridge Assoc., Inc.Ms. Deborah Wean

BILL LEESMr. and Mrs. Jim AndruschatMr. and Mrs. LaVerne Weber

RICHARD LEHMANNMs. Donna AplingMs. Jean AreddyMrs. Janet BachmayerMs. Christina BerMrs. Patricia BurkholderMr. and Mrs. Timothy CarnicomMr. and Mrs. Fredric CrescitelliMr. and Mrs. Kenneth CollinsMrs. Jenny CopeMr. and Mrs. Albert CrociMr. and Mrs. Richard DietschMr. Tony Dietsch

Ms. Barbara DuVall and FamilyMs. Sharon DuVallMr. and Mrs. Joseph GladieuxMr. Ron GlickMr. and Mrs. Jeff GorneyMs. Stacy GrimesMs. Shirley Harbaugh-RupliMr. and Mrs. Paul HasemeyerMs. Judy HelmMr. Alvin JohnsonMr. and Mrs. Tom KellerMs. Tami KubiakMs. Barbara MahoneyMr. and Mrs. Bryan MarshallMr. and Mrs. Eric McClainMr. and Mrs. James McDanielMs. Lonna MillerMrs. Kathy MillsMr. and Mrs. John OehlersMrs. Nancy Osborne & FamilyMr. and Mrs. Dick PartonOR Police PatrolmansMr. and Mrs. Leo PawlowskiMrs. Carol PayetteMr. John PayetteMrs. Patty RankMr. and Mrs. Bruno RosaMs. Sharon SassMr. and Mrs. Larry SickmillerMrs. Sara SmithMr. and Mrs. Timothy StapletonMrs. Ursula StrasboughMs. Joyce TaylorMr. and Mrs. Thomas TiettmeyerMr. and Mrs. R. William ToneyMr. and Mrs. John WaidelichMr. and Mrs. D. WaltonMrs. Wendy Walton-GarciaMr. and Mrs. Robert WeaverMr. Stephen WexlerMr. and Mrs. David WilliamsMrs. Marlene Zissoff

ELLIOTT LEVITCHMr. and Mrs. Wayne Lindley

AUDREY MAE MACDONALDMr. Douglas W. MacDonald

JOHN MARENCOMr. John Campanella

JIMMY D. MILLERMr. and Mrs. William ClarkDisciples of Faith SS ClassMillers Creek Baptist ChurchMs. Edwina Woodie

STEVE RAY PACEMs. Margaret Virnelson

PEGGY PARKERMr. and Mrs. Wayne F. Lindley

JEFF PENTUKMs. Patricia Greeno

BARBARA ROSENMr. and Mrs. Lawrence

Abramson

MICHAEL ROSSMs. Laura J. Moorman

BRUCIE GLENN ROWEMr. Clay Battle

STANLEY SANDERSMs. Leonore R. Groveman

RYAN SCHAEFFERMs. Debra Collins

ERNEST SIMMERMONMr. and Mrs. John BenekeserMr. and Mrs. Michael FaulknerMs. Glenda JohnsonMr. and Mrs. Sam Raber

Mr. and Mrs. Lee SauterMr. and Mrs. Robert SmithMs. Joan Yoder

BOBBIE SOJOURNEYKatherine Touchstone

DUANE STUDEBAKERMrs. Hilda Studebaker

SARAH SWAINMr. Lawrence Senear

ROBERT L. SWITZERMs. Marjorie S. CowanMr. William R. Switzer

LAMPTON TOUCHSTONEMs. Katherine Touchstone

FREDA MAE TOUGHMetz Banking CompanyMs. Cathy Reed GearyMr. and Mrs. Denny ReedMr. and Mrs. Jack WesterholdMr. and Mrs. Mike Westerhold

ERIC TOWNMs. Rebecca Kasper

DOUGLAS TROWERAppel & Yost LLPMr. Paul BechtoldMs. Geraldine M. BensonThe Comninel FamilyThe Dyer CompanyMs. Phyllis Trower

CECELIA VAN FOSSER BOLLERMr. and Mrs. Michael Kelliher

LESTER L. WARD, SRMs. Margaret. L’Hommedieu

IN HONOR OF:STACEY AND ADALIEMr. Daniel Tuman

AUNT PEGGY AND UNCLETOM ADAMUCCIJennifer Robinson

MARIA ALTMs. Donna Ertel

RILEY ASHEVince McCarthy

ELISE BIDWELLMs. Ruth Todd

ERIN BLACKMs. Patricia Harrell

ASHLEE BOEHMEMs. Pam Melton

OLIVIA BOMMARITOMs. Cyndi Atkeson

BOUCHARD/OUELLETTEFAMILYMs. Betty Carol Robison

REV. EARL BROOKSMr. and Mrs. William Kriner

EMMETT BROWNMr. Kenneth Humphreys

MADELEINE M. BROWNMr. and Mrs. Christopher BrownMr. and Mrs. Mel RossMr. and Mrs. Bernard Ross-Squirrell, Jr

DAVID AND AUDREY BURTMs. Sylvia Reid

JUANESE CALKINSMs. Patricia HuntsmanMr. and Mrs. David Shepard

MARILYN CAMERONMs. Lesli C. Jones

LILLIAN CANTINNorm CantinPat Chadwick

BARBARA CASTLEMr. and Mrs. Thomas Bird

LAWRENCE CLARKMr. Robert Nuttall

ANDI HARRINGTON-COSBYMr. Bob DeRosa

STEPHEN COSNERMrs. Dawn Callis

ALABEE CUMBAMs. Linda Zussman

MICHAEL CUNNINGHAMMs. Pam Versteeg

SHEILA AND GIACOMODEANNUNTISMs. Patricia Loudis

ELIZABETH DORINGreg and Denise Dorin

RENEE DUDOVITZMr. and Mrs. Jay EichlerMs. Bev Weston

CAROL AND STUART FEENMr. and Mrs. Michael Feen

FRANK GAIDJUNASMr. Bob DeRosa

KAREN GARRMs. Suellen Beaulieu

LAYLAH GIDDENSMs. Patricia Giddens

KORINNE GILLIAMMs. Macrina Gilliam

AMY GRAYMr. Bob DeRosa

DAVID GUTIERREZMs. Cristina Gutierrez

ROSIE HAGERMs. Mary Howald

RICKI HAMILTONMr. and Mrs. A. Kenneth Fine

DON HARRISMr. William Garner

ROXANN HOWERTONMrs. Pamela Tavares

SUSAN HUGHESMr. Glen Jedlicka

JANA HUNTMs. Mary Lynn Hunt

LOIS JACOBSONMr. and Mrs. Jeff Tarlin

CARRIE JOHNSENMs. Gloria Redmond

NORMAN AND CAROLEKOROWITZMs. Barbara Sklar

JANE AND GARY KRUKARMs. Mary A. Ruetten

ETHEL LEATHERMANMr. W. Scott Leatherman

JERRY AND MARYBETHLEWISMr. Dennis Lewis

DIANE LINDSAYMr. William Katzer

TYLER LOPEZMr. and Mrs. Donald KrauseMr. and Mrs. Rubin Lopez

VAL LUESSENHOPMr. Charles Cooper

KIMBERLY MAGEEMr. Bob DeRosa

ROBERT MCDYREMs. Michelle McDyre

JOE METZGERMrs. Laurie Wilson

KAREN MIDKIFFMr. Russell Midkiff

BILL AND BARBARA MILLARAnonymous

NORMA MOOREMs. Dorothy Steppe

MARGARET MULLERYMs. Monika BiscoglioMr. and Mrs. Chris BradburyMs. Nancy CasparianMr. and Mrs. James GeraghtyMs. Mary Ellen LeahyMs. Mary McQueenMr. Stephen MulleryMs. Kathleen PlotkinMs. Lynda Spring

LESLIE NAGELMr. Bob DeRosa

BREANNE PASCOEMs. Lesley Pascoe

JOHN PHLEGERMr. Richard McCurdy

JANET MACLEODMrs. Susan Ralls

ELIZABETH OUELLETTEMr. Bob DeRosa

LAUREL RICHARDSONMr. Bob DeRosaMs. Gloria Redmond

ARIADNE RIDERMs. Sylvia Reid

RACHEL RIVLINMr. and Mrs. Fred Lasky

JOHN ROBISONMs. Amy Robison

JAMES ROBINSONMs. Connie Kidd

LAURA ROSATIMs. Angela Friday

JEN ROSKOPFMr. and Mrs. Richard Smirl

DEBORAH ROZANSKIMr. Andrew Volovar

MICHELLE AND CRAIGSANDERSMs. Heidi BinstockMr. David Ripke

DON AND MARY ELLEN SHARPMrs. Emily Sharp

WILL SHARPMr. and Mrs. Don Sharp

SAMATHA SHERIFFMs. Nancy Headrick

BARBARA SHEESLEYConley’s Community Thrift

Shop

JAMES SMITHMr. Christopher Palermo

DANNY AND AMY SOLOMONThe Solomon Family Fund

EMILY SORNBERGERMrs. Sharon Sornberger

BRUCE SPACKMANMs. Jodi McCuistion

JARED SPACKMANMrs. Mindy Spackman

MICHELE AND KENT STAHLMs. Vivien Saron

ED STIMERMs. Diane Wittenberg

DOUGLAS SUTHERLANDMr. Nicholas Pisarro, Jr

JEANA SWEENEYMr. Bob DeRosa

DAVID TANNENBAUMMs. Jennifer Scarlott

JEFF TAYLORMs. Sarah Wills

TAYLOR AND NOAH TEAGUEMs. Vicki Brakefield

PATRICIA THEEMs. Holly Blewer

MARK AND TRACY THOMASMs. Kelly McClintock

RICHARD W. THORINGTON, JRMs. Anne Gravely

BETSY AND BOB THORPEMr. Guy Zahn

MICHELLE TRESSELMr. and Mrs. Robert Elliott

LAURA UNDERHILLMr. Michael Underhill

DEANNA VANDERSTARREMs. Linda Sabella

JEROME WALFISHMrs. Sandra Dann

THE WARFIELD FAMILYRon, Heather, Ashley, Sydney

and Emily CookeMrs. Salliann DoughertyMr. and Mrs. Joseph Lallande

STEVEN WEISSAndrew Rosengarden

BRYCE AND MIRIAMWILLIAMSMs. Susan Maples

DIANE WITTENBERGMr. Edward Stimer

JUDY WOSSILEKMr. Kyle Harris

BEVERLY AND FRANKWURZELMr. and Mrs. Craig WurzelMr. and Mrs. Frank WurzelMr. and Mrs. Howard Wurzel

ANTHONY ZAHNMs. Diana Zahn

RICHARD AND LINDA ZAHNMr. Guy Zahn

JEANNIE ZIBRIDAMs. Cheryl Ruderman

As children we dream of hav-ing superpowers. We wantto lift boulders with onehand and move things withour mind. We want to fly

around our neighborhood or dis-appear from sight.

When I was a kid, I spent somuch time falling down, mysuperhero name could have beenCaptain Gravity. I have CMT,which messes with the signals mybrain sends to my muscles. Sowhether I was standing in theshower or walking down a stair-case, I would abruptly experiencegravity. This may seem like a terri-ble superpower. The “super” partwas going on inside my mind.Faster than a sack of potatoes, I

would accept that I was falling,then softer than a fluffy pillow,land as gently as possible. Oncethe falling ended, I would decidehow urgent my next move neededto be, based on damage.

These sudden stops, and theincreasing weakness throughoutmy body, led my mom and me toinvestigate less “leg-dependent”modes of transportation. I beganusing a wheelchair as a teenager,and my friends quickly saw it asan extension of me, like a new pairof shoes. I began to notice,though, that others often had dif-ferent reactions, and I thought

maybe I’d found my new super-power: making people stare. Myfriends and I would walk and rolleverywhere in town and theywould ask if I noticed everyonestaring at us. I’d tell them it’sbecause we’re awesome.

A few years ago, while beinginterviewed for Humans ofOshkosh, I was asked, “What’s thefirst thing people notice aboutyou?” I said, “My wheels.” Theinterviewer pressed harder, asking,“What is it that people respondto?” “Oh, it’s my smile,” I told her,adding, “I’m addicted to peopleand just seeing people makes me

SMILE AND GIVE OTHERS SUPERPOWERSBY ADAM BELLCORELLI


This article was excerpted from a TEDxOshkosh Talk that can be viewed atwww.youtube.com/watch?v=paemv2oTetY.

smile. People respond to thatimmediately. In spite of the bits ofme that don’t work right, I knowthat if I am doing okay in thismoment, I can smile about life.”

I developed this attitudethanks to two great philosophersin my life, Aristotle and my mom.Aristotle teaches an appreciationfor moderation in all things,avoiding extremes, whether posi-tive or negative. My mom wouldsay, “You may have it rough; somehave it better/some worse, soenjoy whatcha got.” My mom alsotold me that having adisability doesn’t meandoing less, it meansworking harder anddoing more.

Early in my life Ilearned I had two gifts:a clearly visible disabil-ity and an obnoxiouslyoptimistic attitude. My two gifts, together,have meant that people are notintimidated by me but I haveeveryone’s attention, even if justfor a moment. Sometimes peopleare uncomfortable in thatmoment, but they are receptive.And in that moment, I am notjust smiling because I am happy. I smile at people, or rather, I smile TO people, liberating fearsand challenging them to embracetheir power.

As a young man, I crashed mycar swerving to avoid a possum. Inthat moment, I learned that crash-ing is not unlike falling, and I wasgood at that. I had to accept thatthe crash was happening, try toland as gently as possible, andmake my next move, based on thedamage. Once the crashing hadstopped, I turned off the radio. I saw that my friend and I wereknocked around but okay, andneither of us could get out of themangled car. I looked down andmy dumb right knee had whackeda piece of metal on my steering

wheel. This sliced a clean hole inmy leg. I could see tendons, butthere wasn’t much blood.

It didn’t take too long for thepolice and paramedics to show up,and because I’m from a smalltown, I knew the officer whowalked up to my shattered win-dow. He shined a flashlight in thecar then on my knee. I asked,“How’s YOUR night going, Pat?”He smiled, looked me in the eyeand said, “Better’n yours.” Sgt.Yost’s smile told me it was goingto be okay, so I smiled back.

When you give asmile to another per-son, you create a tiny,safe, compassionatecommunity in thatinstant. And sinceeveryone’s dealing withsomething, by livingintentionally, everymoment, by not let-ting a wheelchair, or

flesh wound, or a weakness of anykind slow us down, we are able tohelp others believe they too arepowerful, in spite of their barriers.

One afternoon in college,having just finished my finals, Iwas eating lunch and a studentstopped to talk to me. He said,“You don’t know me, but you arethe reason I passed my classes thissemester.” I must havelooked surprised or confusedbecause he went on toexplain, “I’m from southernIllinois and once it got cold,I’d make every excuse to stayin my warm bed, then I’dlook out the window and seeyou pushing your chairthrough the rain or snow andI’d feel silly. I don’t knowyour name but we live in thesame building, have classes inthe same hall across campus,and you would show up eachday with a smile on yourface; so what’s my deal?”That made me smile.

I have no idea what path that student took after we sat andtalked that day but I’m confidenthe’s better off than he would havebeen if I weren’t smiling in therain. Sometimes your smile is alifeboat, and sometimes it’s arocket ship and it is always powerful beyond measure.

In a world where you can beanything, be kind, be connected.Smile and give others super -powers. h

Adam, 40, lives in Oshkosh, Wisconsin,with his wife and two kids, 10 and 6. He isa business consultant with Change Manage-ment Communications Center, where heteaches new managers how to better moti-vate their people and how to developleadership skills.


WHEN YOU GIVE

A SMILE TO

ANOTHER PERSON,

YOU CREATE

A TINY, SAFE

COMPASSIONATE

COMMUNITY…

A smiling Adam Bellcorelli


WHAT’S ON YOUR MIND?Ask David.

Write to David [email protected].

?Dear David,

I am a 40-year-old mom withCMT. I have a beautiful 15-year-old daughter who is beginning toexperience some balance issues, aswell as the usual foot drop symp-toms. I feel blessed because sheseems so well-adjusted, has lots offriends and wears her orthoticsproudly. I was a mess at her age.The problem is my husband. I domost of the chores around thehouse and am often fatigued, buthe expects me to push through it.He gets angry when I say that Iam exhausted and not up toaccompanying him when he feelslike going out. Interestingly, mydaughter doesn’t have a problemstanding up and saying no to him.He will say things to me like:“Stop feeling sorry for yourself,” or“You’re just using your CMT as anexcuse to get out of going on familyoutings.” Even friends of mineseem frustrated when I sometimessay no to participating in somesocial activities. No one seems tounderstand what it is like for meto live with CMT especially since Ilook “normal.”

David replies:

First let me congratulate you onraising a great kid who obviouslyis not allowing her CMT to stop her from feeling good aboutherself. I understand your frustration, but unless others havewalked in our shoes or “orthotics,”they have no idea of the kind offatigue we experience on a dailybasis. A truly sensitive or empa-thetic spouse would at least try tounderstand and take your wordfor it. It is unfortunate that yourhusband is not in this category. Ihave realized over the years that itis important to let go of any guiltor shame around our own limita-tions. Accepting your limits helpsyou go beyond them. Our ownself-acceptance helps us realizethat we do not have to apologizeto anyone for what we can orcannot do on any given day. Free-dom is being able to stand up foryourself and express clearly andfirmly what is okay and whatmakes you uncomfortable. Stand-ing up to your husband or“friends” might sound somethinglike: “It’s hurtful that you don’t

understand when I tell you I amexhausted and I wish you wouldsimply believe me.” When I feelpushed to participate or say yeswhen I really mean no, I am usu-ally irritable, and not goodcompany anyway.

It might also be true thatyour husband has a difficult timeseeing you struggle because itbrings up his fears about yourCMT. Men tend to dislike andavoid feeling vulnerable, so hisfears concerning your conditioncould manifest as anger, which heis more comfortable expressingthan his worry. By the way, some-times we simply don’t feel likepushing ourselves and that’s okaytoo. There is always a balancebetween participating in activitiesand saying no to them, but ourlevel of activity is strictly our owndecision to make. As I have saidin the past,”Stand up for yourright to sit down.” hDavid Tannenbaum has an LCSW degree andhas been a psychotherapist in New York Cityfor the past 30 years, specializing in helpingothers with the task of growing emotionallyand spiritually through physical challenges.“My CMT has been my greatest challenge and my best teacher in life,” says David.

Donate and support the CMTA in the fight against the progressive and devastating effects of CMT

Complete and return to: CMTA • PO Box 105 • Glenolden, PA 19036

l $25 �l $50 � l $100 � l $250 �l $500 l $1,000 l Other: $_______________________

l Check enclosed, payable to the Charcot-Marie-Tooth Association. Donate online at www.cmtausa.org/donate

l Please make this amount a � l One-time or l Monthly gift and charge to my l Visa l MasterCard l American Express

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Please send me CMTA updates via email at: _____________________________________________________________________________________________________

To give a gift of stock or learn about leaving a legacy gift to the CMTA, please call or email Jeana Sweeney, 800-606-2682 x106 / [email protected].

!

When my uncle fell and brokehis hip at the age of 93, itfell on my aunt and my

mother to care for him. Whilethey dreaded the thought of mov-ing him to a nursing home, theyknew it was the only option. Theirfear was that the loss of indepen-dence and the ability to care forhimself would leave himdepressed. In fact, theexact opposite hap-pened. My uncleloved the nursinghome and was onlytoo happy to let oth-ers cook his meals anddo his laundry. Mymother soon added a newselection to her oft-repeatedlist of life lessons. This one wasshort and simple and went some-thing like this: “By the time youneed to go to a nursing home, youwill be happy to be there.”

Recently, I have been travelingfrom my home in Florida toPhiladelphia every three weeks totake place in a CMT clinical drugtrial. While I enjoy contributing

to the search for a treatment forCMT, I do not always love schlep-ping through airports. In fact, Ihate it. My two least favoritethings in the world are walkinglong distances and standing andwaiting. Airports require both. Ihate waiting in line to be screened

by the TSA, and I really hatewalking down long terminals tolocate my gate. Invariably, myknees ache and my ankles arewobbly by the time I arrive.

When I mentioned this to mywife, she suggested that I ask for awheelchair. I always knew a wheel-chair was available if I wanted it,but for some reason I resistedusing it. I guess I was afraid thatpeople would think I was abusingthe system. But on my last triphome from Philly, after participat-ing in a long series of strength

tests, I spotted a wheelchairstand and made a beelinetowards it. It might have been

the best decision I ever made.Within minutes I was whisked

through security with only a per-functory examination of myclothing and luggage and rolleddown a long terminal that hadfunctioned as a torture chamberfor me in the past. I must admit Ifelt a little like royalty. While oth-ers had to struggle and sweat, Ibarely had to lift a finger.

So now my whole attitudetowards wheelchairs has changedand I have a new life lesson to passon: Do not fear the wheelchair. Bythe time you need it, you will behappy it is available. h


Don’t Fear the Chair!BY CLARK SEMMES

Have You Seen Jeana Sweeney’s New Hat?

Until recently, Jeana Sweeney was the much-beloved director of communityservices for the CMTA. In that role, she doubled the number of branches,

helped start a camp for kids with CMT, spearheaded Patient/Family Conferencesand in general made the world a better place for anyone with CMT.

Jeana is still making the world a better place for people with CMT, but shehas a new hat: She’s now the CMTA’s director of development. That means she’sresponsible for everything related to raising money for the CMTA—includingthe major gifts program, the annual fund, planned giving, Walk 4 CMT eventsand national campaigns.

Jeana previously held multiple senior positions at the CMTA and brings to herrole more than two decades of experience in fundraising and community service.

If you’d like to make a donation—or just compliment Jeana on her new hat—you can reach her at [email protected] or 800-606-2682 x106.


While not an overly reli-gious person, SouthernLouisiana Branch LeaderCorey Dalfrey has been

amazed at the many small mira-cles that have led him and hisfamily to where they are today.Corey, his wife Danielle and theirtwo sons live in Prairieville,Louisiana. The couple, who wereboth born and raised in the tinytown of Fordoche in SouthLouisiana, have been married for19 years. Danielle is a nurse andCorey served in the U.S. Air

Force as a petroleum expert for 20years. He was deployed all overthe world, including Iraq, Kuwait,Saudi Arabia, Qatar and Oman—“everywhere but Afghanistan.”While in the military, Coreynoticed that his hands were oftennumb and tingly, a condition thatmilitary doctors diagnosed ascarpel tunnel syndrome. He worecombat boots most of the timeand thinks now that they mayhave stabilized his ankles and pre-vented some of the injuries peoplewith CMT experience.

Corey’s son Jagger, now 10,frequently tripped and fell as hewas growing up. Like many peo-ple with CMT, he was labeled“clumsy.” In time his feet startedto turn in. After a neu-rologist diagnosedJagger with CMT,Corey had a “light-bulb moment” that ledto his own diagnosis(through genetic test-ing) with CMT1Aafter more than adecade of being misdi-agnosed.

Corey retired fromthe military in 2014and began teleworking for theDepartment of Defense in Hous-ton. When his employer told himthat he had to move fromLouisiana to Houston, he andDanielle decided that with Jagger’sCMT they would be better offstaying put. They stayed andCorey started a small businesscalled CD and Sons LLC thatdoes petroleum-related surveys.

Because the closest CMTAbranch was some 300 miles away,they also started the SouthLouisiana Branch, covering BatonRouge, New Orleans, Lafayette,and parts of Mississippi. Jagger

had surgery on his feet in June2018 and the Dalfreys had theirfirst branch meeting the followingmonth.

More than 40 peopleattended that first meeting,including two women who drove2 1/2 hours from Mississippi anda family that Corey’s mother-in-law recognized from her church.In one of those small miracles thatmany with CMT will recognize,the family’s 16-year-old daughteralso had CMT. The family wasespecially curious about Jagger’ssurgery, and just a few monthslater, Jagger’s doctor performedthe exact same surgery on thedaughter—a midfoot osteotomy,calcaneal osteotomy, tendon trans-

fer of peroneus longusto the peroneus brevistendon, and calcanealosteotomy with plan-tar fascia release.

“Funny howthings work out,”Corey says, adding,“If I hadn’t resigned,we would have movedto Houston and wewould have never metthis family and possi-

bly never changed her life either.So, our branch has not even beengoing for one year yet, and wehave changed two young kids’lives.”

The new branch has alsoraised $1,300 selling T-shirts andtaking Facebook donations fromfriends and family and will holdits first walk in September on the campus of Louisiana StateUniversity.

And, in another small mira-cle, Jagger was released from PTfollowing his surgery and physicaltherapy and no longer needs towear AFOs. h

BRANCH LEADER SPOTLIGHT: Corey Dalfrey, Southern Lousiana

Rear, Talon and CoreyFront, Danielle and Jagger

“…our branchhas not evenbeen goingfor one yearyet, and wehave changedtwo youngkids’ lives…”


CMTA Branches

Most CMTA Branches can be accessed online at www.cmtausa.org/branches

ALASKAAnchorage AreaMegan Rodgers907-244-2100

ARKANSASLittle RockCandice Cargile501-516-5588

ARIZONAPhoenix AreaChristina Fisher623-742-8921

CALIFORNIAAntelope Valley AreaDonna Murphy661-317-6332Danielle Metzger661-317-6533Los Angeles AreaAlani Price310-710-2376SacramentoHolly Stevens408-203-8804Rashid Thomas916-947-5377Ernie Hinds916-205-5682Michael Huff408-674-1281San Diego AreaAnnette Van Veen760-473-5014Kendall Trout760-632-5654South Bay AreaOri Bash 408-829-4562 Tau O’Sullivan 916-806-2173

COLORADODenver AreaRon Plageman303-929-9647Dick Kutz303-988-5581

CONNECTICUTHartfordRoy Behlke239-682-6785Kait Lair412-427-7281North HavenLynne Krupa203-288-6673

DISTRICT OF COLUMBIAWashington, DCSteven WeissKimberly Hughes301-962-8885

FLORIDACentral Florida Linda DavisMitch Davis863-875-4239Jacksonville AreaTim Nightingale904-504-1953Stephanie Burkhalter904-710-3771Melbourne AreaClark Semmes410-350-4812NaplesRoy Behlke239-455-5571Sarasota AreaRachel RivlinManuel Goldberg941-870-3326Tampa Bay AreaVicki Pollyea813-251-5512Edward Linde813-712-4101West Palm BeachPhil Lewis561-307-0100Eileen Martinez561-901-5566

GEORGIAAtlanta AreaJeannie Zibrida404-307-6519

IOWAIowa City AreaJeffrey Megown319-981-0171

ILLINOISChicago AreaJay Pate630-888-4673Doreen Pomykala815-351-1328

INDIANAFort Wayne AreaAimee Trammell574-304-0968

KANSASKansas City AreaTammy Adkins314-608-6889Aron Taylor913-744-5674Wichita AreaKaren Smith316-200-0453

LOUISIANABaton Rouge AreaCorey DalfreyDanielle Dalfrey318-294-1976

MASSACHUSETTSBostonMimi Works617-913-4600Jill Ricci978-887-1014

MARYLANDBaltimoreClark Semmes410-350-4812EastonClark Semmes410-350-4812

MAINEPortland AreaMary Louie207-450-5679

MICHIGANGrand Rapids AreaCabrielle Rudisill717-816-4986Amy Reynolds616-916-6732

MINNESOTACentral MinnesotaJo Smith 612-807-4729Minneapolis AreaDuane Hodges612-325-5448

MISSOURIKansas City AreaTammy Adkins314-608-6889Aron Taylor913-744-5674St. Louis AreaPayton Rule618-401-4822Amanda Rule618-698-3039Springfield AreaJessica Brantner417-468-8049Jessica Hardy417-434-1656

NORTH CAROLINACharlotte AreaCarrie Johnsen704-904-2828Durham AreaJeanne Boehlecke919-942-7909Rick Nelson919-889-9776Wilmington AreaLaurel Richardson910-515-8488

NEBRASKALincoln AreaBrandon Lederer402-680-0502

NEW HAMPSHIRENewbury AreaJacinta Gantz978-596-4444

NEW JERSEYCentral New Jersey Mark Willis732-252-8299Jacqueline Donahue732-780-0857

NEW MEXICOAlbuquerque AreaGary Shepherd505-296-1238

NEVADALas Vegas AreaMartha Boadt231-852-4251

NEW YORKBuffalo AreaPeter Morris716-866-3519Maryann Ciskal716-435-3899Kristen Braun716-270-3095Syracuse AreaMichael Casey315-439-9325Upstate New York Elizabeth MisenerDavid Misener518-527-0895Westchester AreaBeverly WurzelFrank Wurzel201-224-5795

OHIOCincinnati AreaJill Stuhlmueller513-254-4065Jo Koenig513-607-2822Cleveland AreaHeather Hawk Frank440-479-5094Shelly McMahon440-781-8329Columbus AreaJessica Diamond216-570-6432

OREGONGrants Pass Jessica Barton541-218-5350 (cell)541-846-8525Portland AreaDebbie Mchugh503-201-7284 (H)503-310-7229 (M)

PENNSYLVANIABucks County AreaJulie FitzGerald Schell315-573-3919Chester CountyAshley Trout484-364-9334HarrisburgErin Weierbach717-379-7504Johnstown AreaJ.D. Griffith814-539-2341Jeana Sweeney814-269-1319Northwestern AreaJoyce Steinkamp814-833-8495Pittsburgh Debra Czarnecki412-331-6744

SOUTH CAROLINA Columbia AreaZack Boyd803-622-6565Kyle Bryant803-378-6202Greenville AreaRebecca Lauriault864-918-2437Amanda Jenkins864-313-2872

TENNESSEENashville AreaBridget Sarver615-390-0699Teresa Shoaf615-772-8810

TEXASAustin AreaNate Halk512-415-6097Dallas/Fort Worth Amy DeSilva770-826-6007Thomas Roderiguz817-913-8477El Paso AreaJo Ann Longoria915-526-0676Olivia Longoria915-491-0786Houston AreaKristin Leard713-516-8630 Benjy Hershorn832-731-0121Meredith Wells832-264-7312

UTAHOrem AreaMelissa Arakaki801-494-3658

VIRGINIAFredericksburgLeigh Van Doren540-370-1968Suffolk AreaJordan Harness843-303-0648

WASHINGTONSeattle AreaDenise Snow206-321-1261Emily Osborne425-220-4225

WEST VIRGINIACharleston AreaKaren McClure304-548-4413

WISCONSINMadison AreaDebi Weber608-712-8709Milwaukee AreaLois Hawkins414-249-0390

CANADASouthern OntarioKelly Hall519-843-6119Toronto AreaLinda Scott Barber416-997-5084

Interested in starting a branch in your area?Contact CMTA Director of Community Outreach

Laurel Richardson at [email protected].


MELBOURNE, FLOn November 17, 2018, the Melbourne, FLCMTA Branch had a great meeting featuringguest speaker Bethany Meloche. The meetingwas held in the Aquarina Beach Club over-looking the ocean, and Bethany joined in fromLondon via FaceTime. A lot of great CMT tipswere shared, including using KT tape for anklesupport (available at Marshalls) and theNuStep recumbent cross trainer for exercise.h

TAMPA BAY AREA, FLTwo dozen people turned out for the TampaBay Area’s winter 2019 branch meeting,including one new member and two snow-birds who migrate to meetings every winter.Plans for 2019 include the 5th Annual Walk-n-Roll Picnic and Fundraiser 4 CMT. Membersalso talked about upcoming communityevents at the CMTA, shared research updates,and shared resources with the group.h

SPRINGFIELD, MOLaurel Richardson, CMTA Director of Com-munity Outreach, attended the Springfield,MO CMTA Branch meeting on February 23.She shared STAR research updates andinformation on upcoming community pro-grams with the 18members present.She also talked abouthow to be “in com-munication” with theCMTA. The meetingwas a classic exam-ple of CMTershelping fellowCMTers with bestpractices for navigat-ing life with CMT!

CHARLOTTE, NCThe Charlotte branch invited all North andSouth Carolina branches to join a conferencecall with Dr. Rebecca Traub on January 27.Dr. Traub is the clinical director at the newCMTA Center of Excellence at the Universityof North Carolina in Chapel Hill. She shared a neurological perspective on CMT and pro-vided updates on recent research advances,including current clinical trials. She alsotalked about the new COE and the services it provides. While a conference call is not atypical branch meeting format, it was verywell received.h

RESEARCH TRIANGLE AREA, NCMembers and spouses of the RTP (Raleigh/Durham) Branch gathered on February 16 totalk about the mobility challenges that CMTposes while traveling. The guest speaker wasSteve Tuten, CEO of Southern Leisure Tours,who has years of experience taking seniorson tours, sometimes with canes, walkers orwheelchairs. Two women with walkers wentwith him to Iceland. Steve suggested a num-ber of workarounds for travel challenges andencouraged branch members to take trips,even if they cannot do everything the groupdoes. Members also shared tips and experi-ences from travels near and far.h

CINCINNATI, OHTwenty people turned out on a cold Saturdaymorning in January as the Cincinnati branchwelcomed guest speaker Jonah Berger.Jonah, a CMTA Advisory Board member anddirector of Camp Footprint, shared inspira-tional stories of his life with CMT. His storiesresonated with everyone, reminding themthat they are not alone on their CMT jour-

neys. Branch members “highly recommend”Jonah’s book, “He Walks Like a Cowboy.”h

COLUMBUS, OH MINI-CAMP REUNIONOn Saturday, January 26, a group of CampFootprint campers and counselors led byCMTA Camp Director/Youth Leader JonahBerger, came together in Ohio for a mini-reunion. Campers and counselors bowled,ate, played games and laughed the afternoonaway. Branch leader Jess Diamond plannedthe event for Camp Footprint family mem-bers, who joked that they had never seeneach other in heavy coats before. It was agreat reminder of how amazing the CampFootprint family is and how much fun is hadany time you get the tribe of the funky feettogether!h

NASHVILLE, TN The Nashville branch welcomed Dr. RyanCastoro to its February 23 meeting. He dis-cussed the strength study at Vanderbilt thatis currently recruiting CMT1A patients.Penny Powers offered a physical therapyperspective on CMT and branch leadersshared CMTA updates, including news ofthree Patient/Family Conferences in 2019.The Nashville branch earned a “pizza party”for its amazing fundraising efforts in 2018and will have that celebration at a park inMay. Members also starting talking abouttheir upcoming Walk 4 CMT, which will takeplace on September 21 at Long Hunter State Park.

CMTA BRANCH

NEWS

Springfield, MO Branch members

Jonah Berger poses with Cincinnati

Branch Co-Leaders

prepare the drug to reach potentialpatient prospects while simultane-ously being part of that pool. It’s an amazing opportunity. Myoriginal plan was to graduate andwork in prosthetic development.However, having some greatopportunities to work in cell andprotein development, I am pre-pared to take any challenge thatcomes my way.

Not long after being diag-nosed with CMT and starting

high school, I remember walkingthrough a hallway thinking, “Ibet in a few years, I won’t evennotice the leg braces at all.” Thatwasn’t true. I still notice themand other people do too. I’mplaying with the same hand I wasdealt at the start. But evenpocket deuces can turn into awinning hand. I was officiallydiagnosed, ran a marathon, andthen earned an internship devel-oping a potential treatment allwithin a few months. I couldchalk all that up to work ethic

(if I were selfish), an amazingsupport system (if I were selfless),or luck (if I were honest) but Idon’t really want to deconstructit. I want to enjoy it.

Things are moving veryquickly. I always imagined beingdiagnosed and hearing the newsof a treatment for CMT happen-ing over the course of mylifetime, not over five months. Itcan be overwhelming, but I lookforward to being overwhelmed ifit means this kind of progress forme and everyone with CMT. h

VITTORIO(continued from page 13)

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change. Would people notice?Would I be more confident? Theresults that came with the tremen-dous physical changes didn’t haveanything to do with people notic-ing I didn’t “walk weird” anymore.They had everything to do withme confronting theinternal battle I hadkept hidden my wholelife. The more physicalprogress I made, themore I learned aboutmyself. When you’rebedridden, on heavynarcotics for pain,and need helpputting yourclothes on, it’s veryeasy to get trapped in frustration.Being forced to ask for helpallowed me to finally gain what Iwas lacking in understanding. Thattook more of a toll than any bro-ken bone or operation ever could.

Over the course of a year, Iwent through a physical transfor-mation of getting new feet andlearning to walk again. I also

traded shame and embarrassmentfor empathy and acceptance. Ifound purpose in understandingthat my condition makes me whoI am. I’ve even become the co-leader of the El Paso CMTABranch, which did not exist in ourcity until this year. Most impor-tantly, I’ve learned that it wasn’t

the operation that gaveme confidence. Thesurgical gift of new feetwas only a vehicle forbeing able to feel atpeace with myself.

While I’m thank-ful for their supportin my first 16 yearsof life, I no longerwear my lace-up hightops. I retired them

to a shelf at the top of my closetto make room for the new kindsof shoes I am now able to wear.My experience taught me I canovercome any obstacle—and useit as a platform to make a differ-ence. I no longer look down atmy Converse All Stars and worryabout falling, I look up in front ofme, excited for the future. h

OLIVIA(continued from page 17)

STUDENTS AT BOSTON COLLEGE H IGH SCHOOL RA ISE FUNDS FOR THE CMTA

Amite box is a boxused to collect

coins for charitablepurposes. Studentsat Boston CollegeHigh School inBoston, Massa -chusetts, use a mitebox to take weeklycollections for local,national, andinternational nonprofits, a sign of the school’s commitment to theworld beyond its doors and an effort to be ever mindful of those inneed. On January 3, the students of Boston College High Schoolcollected $1,000 for the CMTA.

Olivia’s former kicks


CMT PATIENTMEDICATION ALERT:Definite high risk (including asymptomatic CMT):Taxols (paclitaxel, docetaxel,

cabazitaxel)Vinca alkaloids (Vincristine)

Moderate to significant risk:Amiodarone (Cordarone)Arsenic Trioxide (Trisenox)Bortezomib (Velcade)Brentuximab Vedotin (Adcetris)Cetuximab (Erbitux)Cisplatin and OxaliplatinColchicine (extended use)DapsoneDidanosine (ddI, Videx)DichloroacetateDisulfiram (Antabuse)Eribulin (Halaven)Fluoroquinolones Gold saltsIpilimumab (Yervoy) Ixabepilone (Ixempra) Lefluonamide (Arava)Lenalidomide (Revlimid)Metronidazole/Misonidazole

(extended use)Nitrofurantoin (Macrodantin,

Furadantin, Macrobid)Nitrous oxide (inhalation abuse)Nivolumab (Opdivo)Pembrolizumab (Keytruda)Perhexiline (not used in US)Pomalidomide (Pomalyst)Pyridoxine (mega dose of

Vitamin B 6)Stavudine (d4T, Zerit)SuraminThalidomideZalcitabine (ddC, Hivid)

Uncertain or minor risk:5-FluouracilAdriamycinAlmitrine (not in US)ChloroquineCytarabine (high dose)EthambutolEtoposide (VP-16)GemcitabineGriseofulvinHexamethylmelamineHydralazineIfosfamideInfliximabIsoniazid (INH)Lansoprazole (Prevacid) MefloquineOmeprazole (Prilosec)Penicillamine Phenytoin (Dilantin)Podophyllin resinSertraline (Zoloft)Statins Tacrolimus (FK506, Prograf)Zimeldine (not in US)a-Interferon

Negligible or doubtful risk:AllopurinolAmitriptyline ChloramphenicolChlorprothixeneCimetidineClioquinolClofibrateCyclosporin AEnalaprilGlutethimideLithiumPhenelzinePropafenoneSulfonamidesSulfasalazine

The Charcot-Marie-Tooth AssociationP.O. Box 105Glenolden, PA 190361-800-606-CMTA (2682) FAX (610) 499-9267www.cmtausa.org

Non-Profit Org. U.S. Postage Paid

Tiffin, OHPermit #52

W H A T I S C M T ?

?More than 2.8 million people worldwide have CMT, which is one of the mostcommonly inherited nerve disorders and affects the motor and sensory nerves.

CMT is slowly progressive, causing the loss of muscle function and/or sensation in the lower legs and feet, as well as hands and arms.

Men and women in all ethnic groups may be affected by CMT.

CMT is genetic, but it can also develop as a new, spontaneous mutation.

CMT can vary greatly in severity, even within the same family.

CMT causes structural deformities such as high-arched or very flat feet, hammertoes,hand contractures, scoliosis (spinal curvature) and kyphosis (rounded back).

CMT can also cause foot drop, poor balance, cold extremities, cramps, nerve,muscle and joint pain, altered reflexes, fatigue, tremor, sleep apnea, hearing lossand breathing difficulties.

CMT rarely affects life expectancy.

Some medications are neurotoxic and pose a high risk to people with CMT, notablyVincristine and Taxols. See full list (at left) of medications that may pose a risk.

More than 100 different genetic causes of CMT have been identified.

Many types of CMT can be determined by genetic testing. Please consult with agenetic counselor (www.nsgc.org) or your physician for more information.

Although there are no drug treatments for CMT, a healthy diet, moderate exercise,physical and/or occupational therapy, leg braces or orthopedic surgery may helpmaintain mobility and function.

The CMTA’s STAR research program and extensive partnerships with pharmaceuticalcompanies are driving remarkable progress toward delivering treatments for CMT,bringing us closer to a world without CMT.

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SPRING 2019 Rep or t - The Jackson Laboratory€¦ · THECMTA SPRING 2019 ... Study for CMT1X Smile, Give Others Superpowers Rep or t 8 11 > >> 20 ACLINICAL TRIAL FORCAROLINE. The