Resources for Supporting Immediate Relatives of Those Diagnosed with DEEs
Produced in collaboration with Dravet Syndrome Foundation and NORD
Support for this caregiver education program was provided by an educational grant from Zogenix, Inc. - now a part of UCB
All modules of the 3-part series Caring for a Loved One with Developmentaland Epileptic Encephalopathy: Harnessing the Powerof Knowledge to Enhance Diagnosis, Reduce Seizures,and Improve Overall Quality of Life for All designed to improve the quality of life of both patients and caregivers dealing with DEEs are now available on demand.
Session 1 features Module 1: "Resources for Supporting Immediate Relatives of Those Diagnosed with DEEs"; Module 2: "Keeping Your Loved One Safe and Preventing Seizures"; and Module 3: "The First 100 Days and Beyond: Resources for Caregivers, Family, and Friends". Watch Session 1 on demand
Session 2 features Module 4: “Caregiver Self‐care and Mental Health,” Module 5: “Improving Neurodevelopmental Outcomes,” and Module 6: “Becoming a Teenager and an Adult: Key Transition Steps for Those with DEEs.” Watch Session 2 on demand
Session 3 features: Module 7: “Medication Management” will offer guidelines for discussing treatment options for DEEs with your child’s health care provider; Module 8: “SUDEP Awareness – Having a Discussion with Your HCP” will help you understand the risk of SUDEP and the key contribution of uncontrolled seizures and Module 9: “New Medications for DEEs: The Caregivers’ Perspectives” will describe the impact that newly approved treatment options for DEEs have had on people with DEEs, caregivers, and families. Watch Session 3 on demand
Keeping Your Loved One Safe and Preventing Seizures
The First 100 Days and Beyond: Resources for Caregivers, Family, and Friends
Caregiver Self‐care and Mental Health
Improving Neurodevelopmental Outcomes
Becoming a Teenager and an Adult: Key Transition Steps for Those with DEEs
SUDEP Awareness – Having a Discussion with Your HCP
New Medications for DEEs: The Caregivers’ Perspectives
Elizabeth Thiele, MD, PhD
Director, Carol and James Herscot Center for Tuberous Sclerosis Complex, Massachusetts General Hospital
Professor of Neurology, Harvard Medical School
Dr. Elizabeth A. Thiele is a neurologist and epileptologist at Massachusetts General Hospital. She received her medical training at Johns Hopkins University School of Medicine in Baltimore, Maryland, and completed an internship and residency in pediatrics at the Johns Hopkins Hospital. She completed a second residency in child neurology and a postdoctoral research fellowship in neurology at Children's Hospital in Boston.
Dr. Thiele organized and established the Herscot Center for Tuberous Sclerosis Complex, a multidisciplinary comprehensive clinical program for TSC, as well as a ketogenic diet clinic to treat and manage patients with epilepsy. She is also the Director of the Pediatric Epilepsy Service at Mass General and a Professor in Neurology at Harvard Medical School.
Dr. Thiele's research and clinical interests include the role of diet in epilepsy treatment, genotype-phenotype correlation in TSC, the role of epilepsy surgery in management of intractable epilepsy, outcomes following infantile spasms, and neuropsychological profiles in relationship to tuber number and location in TSC.
Erin Fonseca RN, BSN
Nurse Coordinator. The Herscot Center at Massachusetts General Hospital
Erin Fonseca is a nurse coordinator at the Herscot Center for Tuberous Sclerosis Complex at Massachusetts General Hospital in Boston. She earned her Bachelor of Science in community health from University of Massachusetts Lowell and her Bachelor of Science in nursing from Massachusetts College of Pharmacy and Health Sciences. Before working at Massachusetts General Hospital, Erin worked in the Cardiac ICU and Cystic Fibrosis Unit at Boston Children's Hospital. She has been enjoying spending a lot of time with her two kids and her husband in the suburbs of Boston.
Director of Family Support Services. Lennox-Gastaut Syndrome (LGS) Foundation
Jennifer Griffin's journey into developmental and epileptic encephalopathies (DEEs) began 19 years ago with the birth of her third child, Theo, who developed infantile spasms at 3 months of age. Theo received the diagnosis of Lennox-Gastaut Syndrome (LGS) at the age of 4. After becoming a graduate of Partners in Policymaking in her home state of California, Jen’s career and life focus shifted to working with families who have children with special needs. She joined the LGS Foundation in 2018 as the director of Family Support Services focusing on uplifting families in order to lighten the burden of caregiving and isolation. Jen loves to help caregivers access resources and navigate the system so they can one day pay it forward to the next family.
Bethany Goering lives just outside of Philadelphia, Pennsylvania with her husband, Brad, her twin daughters, Kyelynn (13) and Taylor (13), and her son, Caleb (12). Kyelynn had her first seizure while on a family vacation in 2008 at 4 months old. In 2009, one week before Caleb was born, Kyelynn’s genetic results returned with a SCN1A mutation. As Kyelynn’s seizures persisted and developmental delays became apparent, she was diagnosed with Dravet Syndrome. Since then, Bethany and the family have been very involved with the local Epilepsy Foundation and the Dravet Syndrome Foundation. They have also formed the Kyelynn Goering Foundation, which focuses on local epilepsy advocacy and helping newly diagnosed families.
Ember Burke lives in Park Ridge, Illinois with her husband, Mike, her daughters, Mikaela (18) and Alana (17), and her sons, Brendan (15) and Tommy (13). Brendan was diagnosed with Dup15q Syndrome in 2008. That year, Ember attended her first Dup15q Alliance Family Conference in Indianapolis, Indiana, and was inspired to contribute to the cause. She has since been actively involved in the Alliance for 12 years by volunteering her time, raising awareness, and fundraising to support the Dup15q Alliance Mission. Ember’s son, Brendan, was diagnosed with epilepsy after he began having seizures in 2009 and soon after was diagnosed with Lennox-Gastaut Syndrome. She is constantly advocating for the best medical care and educational tools to meet her son’s individual needs.
Kelly Knupp, MD
Associate Professor of Pediatrics and Neurology
Kelly Knupp, MD, is associate professor of pediatrics and neurology at the University of Colorado. She practices at Children’s Hospital Colorado in Aurora, where she is associate research director of the Neuroscience Institute, director of the Dravet Program, and co-interim section chief. Dr Knupp’s research interests are epileptic encephalopathies, including Dravet Syndrome. She was a founding member of the Pediatric Epilepsy Research Consortium, which focuses on developing collaborative research nationally for children with epileptic encephalopathies. Dr Knupp serves on the medical advisory boards of the Epilepsy Foundation of Colorado and the Dravet Syndrome Foundation. She received her medical degree from the University of New Mexico School of Medicine in Albuquerque.
Mary Anne Meskis
Executive Director, Dravet Syndrome Foundation
Mary Anne was a founding member of DSF, stepping off of the Board to take the position of Executive Director in 2012. She has owned and managed several small businesses, with an emphasis on project management, in the private sector for over 25 years. She resides in North Carolina with her husband and the youngest of her three children, Elliot, who has Dravet syndrome. In addition to her role at DSF, she currently serves on several epilepsy working groups and advisory panels.
Patricia Dean, ARNP, MSN, CNRN
Epilepsy Program Specialist, Nicklaus Children's Hospital
Patricia Dean, APRN, MSN, CNRN, has been taking care of children with epilepsy and their families for over 35 years at the Comprehensive Epilepsy Center of Nicklaus’ Children’s Hospital in Miami, Florida. Her current position is epilepsy program specialist. Ms Dean has been involved in every aspect of nursing care of the pediatric epilepsy patient. She has worked extensively with the Epilepsy Foundation at the national, state, and local levels. Ms Dean is the chair of the Epilepsy Florida Board of Directors and has received awards for her service from both the local chapter and national office. She is a recipient of the J Kiffen Penry Excellence in Epilepsy Care Award from the American Epilepsy Society and the Hospital Hero of the Year Award by the Florida Hospital Association.
Amanda Jaksha, BS
Treasurer, International Foundation for CDKL5 Research
Amanda Jaksha's journey into developmental and epileptic encephalopathies (DEEs) began when her firstborn was seven months old, and seizures came roaring into her life. Many years later, her daughter, Ava, received a CDKL5 deficiency disorder (CDD) diagnosis at age 6, which inspired Amanda to join the International Foundation for CDKL5 Research (IFCR) Board of Directors. Amanda holds a Bachelor of Science in business administration with an accounting concentration from Colorado State University. She is also a certified nurse aide for Ava and has spent many years engaging and supporting patients and caretakers in a multidisciplinary clinical setting. Amanda loves connecting families with the resources they need to excel at caretaking.
Karen Utley, BSN, RN
Parent of a child with CDKL5 Deficiency Disorder
Karen Utley has a 14-year-old diagnosed with CDKL5 deficiency disorder (CDD). This devastating diagnosis ignited a passion in Karen for awareness and patient advocacy. She is president and co-founder of the International Foundation for CDKL5 Research (IFCR) and a licensed registered nurse. Karen works collaboratively with many organizations such as International Rett Syndrome Foundation (IRSF), Rare Epilepsy Network (REN), Epilepsy Foundation, NORD, and Global Genes. She also works as a patient advocate liaison between rare communities and industry. Karen’s goal is to help move science and community forward in CDD and other developmental epilepsies. One of the efforts she is most proud of is the IFCR Family Support Program because no one is ever left to feel alone.
Joseph E. Sullivan, MD
Professor of Neurology & Pediatrics, University of California San Francisco
Director, Benioff Children’s Hospital Pediatric Epilepsy Center of Excellence
Joseph Sullivan, MD, is a Professor of Neurology and Pediatrics at the University of California, San Francisco (UCSF) and Director of the UCSF Pediatric Epilepsy Center of Excellence at Benioff Children’s Hospital. Dr. Sullivan is the Co-Director of the Parnassus Integrated Student Clinical Experience (PISCES) Longitudinal Integrated Clerkship, which offers 16 UCSF students an opportunity to learn one-on-one from faculty in the core disciplines. As the Director of the UCSF Pediatric Epilepsy Center, he specializes in evaluating and caring for children with epilepsy, refractory epilepsy in particular. Dr. Sullivan’s special interests lie in Dravet syndrome and PCDH19-related epilepsy as well as evaluating children for epilepsy surgery. He is a member of the American Epilepsy Society.
Parent of a child with tuberous sclerosis
Kelsey Hudson is a caregiver for her son, Wyatt (8) with Tuberous Sclerosis Complex (TSC) alongside her husband, Justin. A few months after Wyatt's birth, he began experiencing near-fatal seizures, and was diagnosed with TSC. Kelsey’s career changed immediately into that of a full-time caregiver, advocate, and self-taught researcher, entering the complicated world of rare childhood illnesses. She has been a tireless proponent for her son's needs, traveling the country to meet thought leaders in the fields of TSC and Epilepsy, and staying for weeks at a time inside hospitals while Wyatt endured brain surgeries aimed at saving his life. Kelsey hopes her message brings a greater understanding to the emotional and physical commitment being made by parents of children with rare illnesses.