Theses people have graciously donated their time this family meeting to provide information to the community in many categories. It is our hope that much of what they present can be taken home, set into practice, and inspire hope. Take a few minutes to get to know our presenters before the meeting.
Listed by order of the Agenda:
Joshua Marszalek joined the AHCF board of directors in 2013 and currently serves as President of the board. Josh has previously served as Vice President and Secretary to the Board. Josh and his wife, Laura, live in Connersville Indiana and have two children, Levi and Kathryn. Kathryn was diagnosed with AHC in February 2012, and the Marszaleks joined the list of families who are committed to helping other families and funding research to cure AHC. Joshua is a licensed architect and owns his own architecture practice, Rural Valley Architecture. Prior to owning his own firm, Joshua worked in Connecticut and at CSO Architects in Indianapolis, IN. Joshua Marszalek – firstname.lastname@example.org His opening remarks will introduce the Board of Directors and outline what the AHC Foundation can do (is doing ) for your family.
Gene M. Andrasco is currently the Treasurer for the AHCF. Gene joined the ACHF Board of Directors in 2011, and has previously served as the Vice President and Co-Treasurer. Gene volunteers his time to the foundation in honor of his daughter Kiley who was diagnosed with AHC in 2003. Gene lives in Lake Zurich, Illinois with his wife, Kelly and two children, Ryan and Kiley. Professionally, Gene is the Finance Vice President of the Marketing Store. Gene Andrasco – email@example.com
Megan O’Boyle, is the parent of a 20 year-old daughter with Phelan-McDermid Syndrome (PMS) and the Principle Investigator of the PMS International Registry (PMSIR). As the Patient Engagement Lead for RARE-X she brings her decade of experience in advocacy to help patient groups develop and govern their new Data Collection Efforts within RARE-X. Megan knows firsthand about the challenges that patients and patient communities face collecting and sharing their data. She is passionate about the need for the rare disease community as a whole to collect standardized data (ask the same questions) to allow for cross-disease research. She believes that having data collection developed and maintained at NO COST to the patients and patient communities is imperative to removing the barriers to finding treatments and cures for rare disease. Keeping the patient at the center of all decisions and efforts of RARE-X is Megan’s priority and mission.
Dr. George is Professor and Chair of the Department of Pharmacology, and Director of the Center for Pharmacogenomics at the Northwestern University Feinberg School of Medicine. He has been a pioneer in elucidating the genetics and pathogenesis of disorders of the nervous system caused by dysfunction of sodium and potassium ion transporters and channels. His laboratory is investigating the fundamental mechanisms responsible for AHC and testing new therapeutic strategies using human AHC neurons.
Dr. Kathryn J. Swoboda is the Katherine B. Sims M.D. Endowed Chair in Neurogenetics and Director of the Neurogenetics Unit in the Center for Genomic Medicine, Massachusetts General Hospital and Harvard Medical School. She completed her neurology residency at the Harvard Longwood Neurology Program at the Brigham and Women’s Hospital, and pursued additional subspecialty training in Clinical Genetics, Neuromuscular disease and Neurophysiology at Boston Children’s Hospital. Dr. Swoboda’s research and clinical activities are dedicated to the clinical characterization and genetic studies of rare inherited neurologic disorders with the goal to help develop and implement novel treatment approaches. In 1998, in collaboration with Alternating Hemiplegia of Childhood (AHC) community, she launched the first clinical registry, database and biorepository to facilitate efforts to identify the gene or genes involved in the pathogenesis. This resource proved critical in proving that mutations in the ATP1A3 gene were the cause of disease for most patients with the classic forms of AHC. The AHC Longitudinal Population Data and Tissue Repository, housed in the Center for Genomic Medicine at Massachusetts General Hospital, is a continuing resource for ongoing phenotype-genotype and longitudinal natural history studies of AHC patients and other ATP1A3-related neurologic disorders, and a source of clinical information, cell lines and samples for collaborators focused on the development of novel treatments.
Jin Yun (Helen) Chen is a certified genetic counselor working in the Neurogenetics Unit and Center for Genomic Medicine at the Massachusetts General Hospital. She is specialized in providing genetic counselling services to patients and families ranges from newborns to adults with neuromuscular and neurodegenerative disorders. She participates in provider outreach and education related to genetic counseling and testing approach for genetic neurological conditions. She facilitates natural history study for Alternating Hemiplegic of Childhood. She involves in the newborn screening for SMA and serves on the Medical Advisory Council for the CURE SMA Foundation. Prior to this, she worked as a laboratory genetic counselor in the Division of Genomic Diagnostic at the Children’s Hospital of Philadelphia, where she gained expertise in variants analysis and report interpretation for both sequence variants and copy number alterations, as well as utilized clinical expertise to perform clinical correlation for report interpretation and generation. She received her master’s degree in Genetic Counseling from Brandeis University and bachelor’s degree in Biochemistry from the University of Massachusetts Amherst.
Alice Belgrade-Moss is a licensed Clinical Professional Counselor and Board Certified Behavior Analyst with over 25 years in the fields of behavior and education. She has served as the behavior analyst for Lake Zurich School District #95, and currently serves as behavior analyst in Woodland District #50, as well as consultant to schools and community agencies throughout the Midwest. She is owner and director of Belgrade Behavior Consulting, LLC a private practice providing home-based behavior coaching and creative, evidence-based interventions for children with special needs and other behavioral challenges. She founded The Potty People, a group dedicated to potty training children with special needs. Alice presents nationally on topics related to children with a variety of challenges, including Autism, Down Syndrome, ADHD, Bipolar Disorder and other rare neurological disorders. Authored, “Fitting in Everywhere”, “B. A. S. I. S.: Behavior Assessment Screening and Intervention System”, “Toilet Training Every Child”, and “Emma and Me” (A story for siblings of children with Autism).
Carol Presunka is a mother of 3 ages 24, 18, and 16. Alex her oldest was diagnosed with AHC with he was 6 months old. Carol and her husband are originally from Canada where she worked in sales and marketing. They moved to the US in 1995, first to Harrisburg PA and then to San Jose CA where they still live. Her latest paid position was for a non profit which provided services for families with special needs. Carol sat on the Board for the AHCF for about 15 years, but stepped down a couple of years ago. Carol has been a Trustee for her local elementary school board for the last 7 years and is an Elder at her church. She has a BA in Economics and an MBA. “I love hanging out with friends, reading and traveling.”
Lynn Egan is the past President of AHCF and currently serves as the Vice President of Family Support. She began her journey to find families and treatment/cure for AHC after her youngest daughter Kathleen was diagnosed in 1991. She has been actively involved with the foundation since its beginning in 1993. Lynn lives in the San Francisco Bay Area with her husband Mark. They have three children, Stephanie, Greg, and Kathleen. Lynn is a retired School Librarian from the Redwood City School District after 15 years of service and 3 years as a volunteer. Lynn Egan – firstname.lastname@example.org
Heather Gates joined the Board of Directors in 2017. She lives in Ohio with her husband and daughter, Jocelyn (22). Jocelyn was diagnosed at 3 yrs old. Heather home educated Jocelyn from 5 yrs old until her graduation in 2017. Heather has a B.S. in Child and Family Studies and Early Intervention and worked as an Early Intervention Specialist at a Children’s Hospital and a County DD program. Heather previously has volunteered at a crisis pregnancy center, home educators group, and Hospice of Northwest Ohio. Heather enjoys connecting with families and supporting them on their journey with AHC. Heather Gates – email@example.com
Alexander A. Sousa is a Harvard University PhD candidate in the laboratory of Dr. David R. Liu at the Broad Institute of Harvard and MIT and is a National Science Foundation Graduate Research Fellow. He completed his undergraduate degree in Biology at Northeastern University in 2016 and simultaneously trained as an undergraduate researcher at Editas Medicine from 2014-2016. His post-undergraduate work was completed in the laboratory of Dr. J. Keith Joung at Massachusetts General Hospital and Harvard Medical School, where he worked as a research technologist investigating Cas12a CRISPR nuclease protein engineering and the development of improved-specificity CRISPR nucleases. As a Harvard graduate student in the Liu lab his research is focused on the development of new genome editing technologies and their application for the correction of the underlying pathogenic mutations of monogenic diseases.
Simon Frost is the CEO of Tiber Capital Group. He has served in the executive team of several large finance and real estate companies. Most recently he was the Chief Investment Officer of Greencourt Capital, a public company with approximately $1 billion in real estate assets. Simon was the co-founder of The American Home, one of the largest single family rental aggregators in the United States, and was the President and Chief Operating Officer of Key Properties – another large single family rental aggregator. Simon has acquired, renovated, leased and sold over 10,000 homes since 2011.
Earlier in Simon’s career he was the Chief Financial Officer of Goal Financial, a $9 billion student loan originator, and Taylor Development, a commercial real estate developer.
Simon holds Bachelor’s and Master’s degrees in economics from Cambridge University in England, and a Bachelor’s degree in finance from the University of South Africa. Simon serves as Director of both Cure AHC, and Hope For Annabel, charities dedicated to finding therapies for Alternating Hemiplegia of Childhood. He played professional rugby in the UK for Swansea, London Welsh, and Coventry, and captained Cambridge University’s rugby team in 2004.
Ryan Andrasco, older brother to Kiley(who has AHC), is studying Electrical Engineering w/ minor in business at University of Wisconsin – Madison graduating in December 2021. He volunteered as a peer minister at St. Francis de Sales and helped with the annual AHCF Chicago Walk. He is currently interning at Collins Aerospace in Cedar Rapids and playing lacrosse for the Iowa Dogfish, UW-Madison club team, and whenever he can.
Mary Anne Ehlert, CFP®, is a financial professional. She is also a
mother, sister and a daughter to her loved ones with disabilities. She
is highly regarded as a specialist in working with families of
individuals with disabilities and the elderly and speaks at
conferences, hosts webinars, and runs virtual training on future
Over the years, she found that many individuals and families were receiving transactional advice, rather than overall planning, and thus she set about to become a true personal advisor to her clients. The mission to become that needed resource to her clients has driven the overall purpose and strategy of the firm.
As President and Founder of Protected Tomorrows and Ehlert Financial Group, as well as a partner of Forum Financial Management, Mary Anne has served on the Board of Directors of Special Olympics Illinois, Gateway to Learning School for Special Needs, Illinois St. Coletta, as well as Vice-Chair for the National Disability Institute in Washington, DC. She currently serves on the board for the Cornelia de Lange syndrome National Foundation, Special Olympics Illinois Foundation Board, the Advisory Board of Tails for Life and the Advisory Counsel of Integrative Touch for Kids.
Dr. Ess has dedicated his career to understanding the genetic control of brain development and how aberrations in developmental processes lead to epilepsy, movement disorders, and autism. For the past 15 years at Vanderbilt, his research has focused on rare diseases including tuberous sclerosis complex (TSC) as patients with this disease have prominent brain malformations, white matter disease and a very high prevalence of epilepsy and autism. Over the past 8 years, his group has also focused on alternating hemiplegia of childhood (AHC), a devastating neurodevelopmental disorder due to mutations in the ATP1A3 gene. To study abnormal developmental processes in TSC and AHC, they utilized diverse model systems including transgenic mouse and zebrafish as well as human induced pluripotent stem cells (iPSCs). Their basic and translational research approaches to TSC and AHC should culminate in advanced knowledge about pediatric neurological disorders and hopefully lead to the development of novel and more effective therapies.
Kenneth Silver, M.D., is a pediatric neurologist at Shriners Hospitals for Children — Chicago and co-director of the muscular dystrophy MDA-affiliated clinic at Shriners Hospitals for Children — Chicago. He is board certified in neurology and pediatric neurology from the American Board of Psychiatry and Neurology, Inc. As a pediatric neurologist he provides care for patients and investigates diseases of the nervous system, which includes the brain, spinal cord and muscles. Dr. Silver is a clinical associate at the University of Chicago and past program director for pediatric neurology training at the University of Chicago where he helped to train the next generation of pediatric neurologists. Dr. Silver was an associate professor at McGill University in Canada and worked at our sister Shriners Hospital in Montreal. Areas of interest include treating spasticity in children with cerebral palsy, neuromuscular disorders, neurogenetics and movement disorders.