Here are the agenda, speaker biographies, and presentation materials from our Miami FSHD Family Day Conference, which was held on Saturday, February 23, 2019, at the beautiful Newman Alumni Center at the University of Miami in Coral Gables. Click on the talk titles to download the slides.
Best practices in caring for FSHD
• FSHD 101 – What every patient needs to know. Mario Saporta, MD PhD MBA, is an Assistant Professor of Neurology and Human Genetics at the University of Miami. He is the director of the Muscular Dystrophy Association Care Center and Charcot-Marie-Tooth Center of Excellence at the University of Miami where he coordinates a multidisciplinary team providing specialized care for patients with neuromuscular genetic disorders. He is also a principal investigator leading a research group focused on the use of human stem cells to study neuromuscular genetic conditions. He will review the basics of FSHD and provide an update on the current clinical trials for FSHD
• FSHD Genetics: Everything you want to know (plus some more). Stephanie Bivona, MS, CGC, is a board-certified genetic counselor who specializes in neurogenetics. She is the genetic counselor for the Muscular Dystrophy Association clinic at the University of Miami. She will be discussing the role of a genetic counselor for families with FSHD, genetic causes of FSHD, and genetic testing for FSHD.
• FSHD and Physical Therapy Implications. Kayla Chomko, DPT, received her bachelor’s degree from the University of Florida in 2005 in the area of Health Science and earned her doctor of physical therapy degree from the University of Miami in 2008. Since graduation, Dr. Chomko has focused on the treatment of neurological disorders, specifically working with patients and loved ones affected by neurodegenerative diseases. Kayla is the lead physical therapist within the Neurology department with a focus on muscular dystrophies, ALS and CMT among many other neurological conditions. She joined University of Miami Department of Physical Therapy as voluntary adjunct assistant professor and is assisting with establishing their Neurological Residency program. Kayla is eager to educate the community regarding how physical therapy can assist patients with FSHD and best practices within the field regarding this diagnosis.
- Your legal rights. Matt and Debbie Dietz are the founders of Disability Independence Group (DIG), a nonprofit advocacy center for disability rights. The mission is to expand opportunities for participation, education, employment, and acceptance of persons with disabilities through advocacy, litigation, education, and training. Matthew Dietz, litigation director, has been practicing in the arena of civil rights litigation since 1996 and has handled hundreds of matters involving the Americans with Disabilities Act, the Fair Housing Act and other civil rights laws. Deborah Dietz, executive director, is the creator of The Wallet Card Project that helps individuals with intellectual/developmental disabilities safely disclose their disability to law enforcement and is working on a project that looks at the intersection of domestic violence/sexual assault and disability.
- Assistive devices and technology. Gene Harkey is with National Seating and Mobility and has been directly involved with the evaluation and recommendations for Complex Rehabilitation Technology (CRT) Equipment for over 30 years. Gene passed the RESNA (Rehabilitation Engineering Society of North America) Assistive Technology Practitioner (ATP) exam in 1997. The ATP is the only credential for persons within the industry to demonstrate the standards of knowledge and ethics in a field that has very little formal educational available. Medicare now requires that an ATP is involve with the evaluation process for all custom mobility equipment. Gene has been in the Miami market for the past 12 years and has worked diligently to become the provider of choice as a member of the National Seating and Mobility Team here in Miami. Some notable referral sources he works with are Jackson Spine and Neuro Rehab departments, Miami Physical Therapy Associates and the UM ALS Center of Excellence. Gene’s passion for this business has kept him dedicated to assisting those with mobility equipment needs. For Gene this is more than a job it is an ongoing effort to make people’s lives as independent and fulfilling as they can achieve.
Advances in FSHD treatments
• FSHD Clinical Trials. Mario Saporta, MD PhD MBA. See biography above.
• The Future of FSHD Therapies. Peter Jones, PhD, is the Mick Hitchcock Endowed Chair of Medical Biochemistry and Associate Professor of Pharmacology at the University of Nevada, Reno School of Medicine. He earned a bachelor’s degree in microbiology from Miami University in Oxford, OH, and then his PhD in genetics and molecular biology at Emory University School of Medicine in Atlanta, GA. He went on to a post-doctoral fellowship at the National Institutes of Health, Bethesda, MD, where he expanded his training into biochemistry, chromatin and epigenetics. Since 2003, Dr. Jones’ lab has been investigating epigenetic dysregulation underlying FSHD pathogenesis to identify therapeutic targets, develop more affordable and accessible diagnostics, and aid in the generation of cell and animal models of the disease for better therapeutic development and pre-clinical testing. He currently runs the lab with his wife and Co-PI, Dr. Takako Jones.
• An Engaged and Empowered Community. June Kinoshita, is Chief Strategic Programs Officer at the FSH Society. She joined the Society in 2012. Her focus is on the intersection of patient engagement and therapy development. As part of the Society’s research team, she works closely with academic and industry partners on the Therapeutic Accelerator project. She organizes FSHD Family Day conferences across the U.S. as well as the annual FSHD International Research Congress. June is also Editor of the FSHD Advocate and the FSH Society’s educational publications, website and social media content.
- Family: Living, loving, caring, sharing, an open conversation with all attendees. Ora Prilleltensky, PhD, obtained her doctorate in counseling psychology from OISE at the University of Toronto. She is the former director of the major in Human and Social Development at the University of Miami and has taught various graduate and undergraduate courses. She has also worked in a variety of clinical settings, including a child guidance clinic, a university counseling center and a rehabilitation hospital. She is the author or co-author of four books dealing with well-being, change, and disability. Isaac Prilleltensky, PhD, is the former dean of the School of Education and Human Development at the University of Miami. He currently serves as the vice provost for institutional culture at the University of Miami, where he is also a professor of educational and psychological studies. He is a community psychologist with interests in the connection between wellness and fairness. He has published ten books and over 130 scientific papers and chapters. He is the recipient of awards by the American Psychological Association for his scholarly work and by the National Newspaper Association for his humor writing.Based on their research, recent books on well-being and change, and on their family and professional experience, the Prilleltenskys will lead a discussion on the emotional and relational side of FSHD. Ora, who uses an electric wheelchair, was diagnosed with FSHD at age 18. She and Isaac have been married for 36 years. For them, FSHD is a family affair that is best managed within the context of a loving and supportive relationship. The goal of the session is to provide a safe space for participants to share experiences, connect with others, and explore solutions that fit their needs and circumstances. Their latest books are available on Amazon:
– The Laughing Guide to Well Being
– The Laughing Guide to Change: Using Humor and Science to Master Your Behaviors, Emotions, and Thoughts