ASCEND 2022 Rett Syndrome National Summit | All Speakers

All Speakers

Art Beisang, MD

Art Beisang, MD

                   

Arthur (Art) Beisang, MD has been a practicing pediatrician for 30 years. He has focused exclusively on Complex Care Pediatrics since moving to Gillette Children’s Specialty Health Care in 2006. He was a founder of the Rett and Rett-Related Disorders Clinic at Gillette. He is currently the Clinic’s Co-Director and also Co-director of the Aerodigestive Clinic. His clinical goal is to maintain the health of his neurologically complex patients, including managing all aspects of feeding, diagnosing distressing symptoms (including dysautonomia), and managing aspiration and drooling.  

Tim Benke, MD, PhD

Tim Benke, MD, PhD

                   

Tim Benke, Ponzio Family Chair in Neurology Research and Professor of Pediatrics, Pharmacology, Neurology and Otolaryngology at University of Colorado School of Medicine, completed MD/PhD (BCM), post-doctoral training (Bristol University) and clinical training (Pediatric Neurology, Texas Children’s).  He joined the University of Colorado and Children’s Hospital Colorado (CHCO) in 2002 where he is Research Director of the Neuroscience Institute.  He initiated the multi-disciplinary Rett Clinic in 2011 at CHCO, where he is the Medical Director.  Dr. Benke was site PI for the NIH funded Natural History Study and participates in clinical trials and outcome measure development in RTT and CDKL5.

Sasha Djukic, MD, PhD

Sasha Djukic, MD, PhD

                   

Sasha Djukic, MD, PhD is Professor of Neurology at Albert Einstein College of Medicine and the Director of the Center for Rett Syndrome in the Children’s Hospital at Montefiore in the Bronx, New York, the only Rett clinic in the tri-state area. Dr. Djukic began her training at the University of Belgrade in Yugoslavia, obtaining both her medical and doctorate degree. She then moved to the Albert Einstein College of Medicine, where she completed her Pediatric Residency and Neurology Fellowship. 

She founded the Rett Center at Montefiore in 2008, which provides comprehensive multidisciplinary care to 380 patients with Rett syndrome. Dr. Djukic has a special interest in neuropsychology and how those with Rett syndrome communicate and excel in their education. She was the first to effectively implement eye-tracking technology as a method of cognitive assessment in patients with Rett syndrome and objective neurophysiological techniques to assess their language processing. She was the principal investigator in five clinical trials in Rett syndrome, has published about clinical care, and worked with other scientists to develop a better understanding of Rett syndrome.

She was also the founder of an international Blue Sky Girls event that raised awareness about Rett syndrome.

Tim Feyma, MD

Tim Feyma, MD

                   

Dr. Feyma trained in Pediatrics at Penn State and Child Neurology at Seattle Children’s Hospital.  He moved to Minnesota in 2009 where he joined Gillette Children’s Specialty Healthcare, a nonprofit hospital founded in 1897 as the first hospital in the US specializing solely in the care for children with chronic health disabilities.  He is now the medical director of the Neurology department, head of the deep brain stimulator program, head of the Rett Syndrome clinic, and most importantly a front-line clinician.  Dr. Feyma’s active research interests include rare genetic disease, orphan drugs for rare diseases, and cerebral palsy research.

David Lieberman, MD, PhD

David Lieberman, MD, PhD

                   

David Lieberman, MD, PhD, is a child neurologist at Boston Children’s Hospital. Dr. Lieberman completed his medical and doctorate degrees in Neuroscience at Stanford University School of Medicine. He continued his training at Johns Hopkins University School of Medicine, completing an internship in Pediatrics and a residency in Pediatric Neurology. Dr. Lieberman remained at Johns Hopkins as faculty for a few years before moving back to the west coast to take a faculty position in the Neurosciences Department at UC San Diego. Dr. Lieberman moved to Boston in 2015 and now serves as the Director of the Comprehensive Rett Syndrome Program at Boston Children’s Hospital where he follows more than 200 patients with Rett syndrome and Rett-related disorders.

Eric Marsh, MD, PhD

Eric Marsh, MD, PhD

                   

Dr. Marsh received his MD from New York University School of Medicine and his PhD in physiology and neuroscience from NYU Sackler School of Biomedical Sciences. After completing his internship and pediatric residency at NYU, he moved to CHOP for a residency in child neurology where he stayed for his fellowship in clinical neurophysiology and completed his post-doctoral fellowship. Hired first as faculty there in neurology and pediatrics, Dr. Marsh is now an associate professor of neurology at the University of Pennsylvania Perelman School of Medicine and CHOP, Clinical Director of the Penn Orphan Disease Center, and Director of the CHOP Rett and Related Disorders Clinic. 

Dr. Marsh has particular clinical interests in developmental epilepsies, neurodevelopmental disorders, and cortical malformations.  His research has focused strongly on the impact of intraneuronal development and altered excitability on epilepsy, analyzing intracranial EEG recordings to better localize the epileptic zone and network, and performing natural history and electrophysiological biomarker studies.  He has also been involved in a number of clinical trials for children with the DEEs, including Dravet, LGS, and Rett syndrome.

Jeffrey Neul, MD, PhD

Jeffrey Neul, MD, PhD

                   

Dr. Jeffrey Neul is the Director of the Vanderbilt Kennedy Center and the Annette Shaffer Eskind Professor of Pediatrics at Vanderbilt University Medical Center. His clinical practice and research focus is on Rett syndrome and related disorders. His laboratory-based research explores disease mechanisms, tests new therapeutics, and discovers and evaluates biomarkers of disease improvement. His clinical research focuses on longitudinal natural history studies and the development of outcome measures and biomarkers. He has been involved in multiple industry sponsored clinical trials in Rett syndrome and is leading an investigator initiated study exploring the safety of oral ketamine in Rett syndrome.

Alan Percy, MD

Alan Percy, MD

                   

Alan Percy, MD, a pediatric neurologist at the University of Alabama at Birmingham (UAB), attended medical school at Stanford, training in Pediatrics there and in Child Neurology at Johns Hopkins.  In 1983, he was one of three physicians to recognize Rett syndrome (RTT) in this country.  Thereafter, he pursued clinical and laboratory studies in RTT, encouraged Huda Zoghbi to conduct studies leading to identification of MECP2 mutations, and established centers at Baylor and UAB where he was principal investigator of the RTT and RTT-related disorders Natural History Study (NHS) that enrolled more than 1700 participants.  He has authored over 150 publications on RTT while continuing to seek effective treatment for this unique neurodevelopmental disorder.

Sarika Peters, PhD

Sarika Peters, PhD

                   

Dr. Peters is a psychologist who has extensive experience in the detailed behavioral and neurophysiological characterization of neurogenetic disorders, including the creation of new methods of assessment for these conditions. She earned her Ph.D. from the University of Texas at Austin and then completed a Leadership Education in Neurodevelopmental Disabilities training fellowship at the University of Tennessee Health Sciences Center. Dr. Peters conducts clinical research in Rett syndrome and MECP2 duplication syndrome. She uses novel methods of assessment inclusive of wearable devices and event-related potentials to track clinical severity and is conducting validation studies of remote/at-home assessment. She has also examined immune and stress biomarkers of disease severity and has been part of clinical trials and outcome measure development.

Robin Ryther, MD, PhD

Robin Ryther, MD, PhD

                   

Robin Ryther is an Associate Professor of Neurology and Director of the Rett Spectrum ClinicBorn and raised in the Saint Louis area she received her undergraduate degree from the University of Missouri – Columbia before completing her MD and PhD at Vanderbilt University School of Medicine in Nashville, TN.  Following medical school, Dr. Ryther completed her pediatric and neurology residency at Massachusetts General Hospital as part of the Harvard Combined ProgramWhile there she developed an interest in epilepsy and returned to the Saint Louis Area to complete her neurophysiology and pediatric epilepsy fellowship at Washington University School of MedicineShe stayed at WUSM as faculty in 2013 and worked to create the Rett Spectrum Clinic which opened in 2015Dr. Ryther sees pediatric epilepsy patients and both children and adults with Rett Spectrum Disorders.

Steve Skinner, MD

Steve Skinner, MD

                   

Steve Skinner, MD, is the Director of the Greenwood Genetic Center, an IRSF Rett Syndrome Center of Excellence. He is a board-certified clinical geneticist involved in the evaluation and treatment of children and adults with birth defects, intellectual disabilities, and other genetic disorders. His areas of interest include Rett syndrome, Angelman syndrome, autism, and intellectual disabilities. He was a principal investigator on the NIH/Rare Diseases Clinical Research Network’s Rett Syndrome Natural History Study and is involved in numerous clinical trials for patients with Rett syndrome.

Bernhard Suter, MD

Bernhard Suter, MD

                   

Dr. Suter is Assistant Professor at Baylor College of Medicine and Co-Director of the Blue Bird Rett Center. He is American Board of Psychiatry and Neurology certified in Neurology and Epilepsy and also has a strong interest in movement and gait analysis. He has published several papers on gait in Rett syndrome. Beyond that, he has participated in many clinical trials for Rett syndrome over the last decade. He went to medical school in his home country of Germany, after which he became a post-doctoral fellow in the Developmental Neurobiology Laboratory at Massachusetts General Hospital and Harvard Medical School and then completed residency training in Pediatrics and Pediatric Neurology at Texas Children’s Hospital. 

Dallas Armstrong, MD

Dallas Armstrong, MD

                   

Dallas Armstrong, M.D., is an Assistant Professor in both the Department of Pediatrics and the Department of Neurology at UT Southwestern Medical Center. Dr. Armstrong is the medical director of the Rett Syndrome and Related Disorders Clinic, which received the International Rett Syndrome Foundation Center of Excellence designation in 2021. She is also the representative from UT Southwestern to the pediatric epilepsy surgery workgroup of the Pediatric Epilepsy Research Consortium (PERC). Certified by the American Board of Psychiatry and Neurology in epilepsy, she joined the UT Southwestern faculty in 2019.

Theresa Bartolotta, PhD, CCC-SLP

Theresa Bartolotta, PhD, CCC-SLP

                   

Theresa Bartolotta, PhD, CCC-SLP is Professor of Speech-Language Pathology at Thomas Jefferson University in Philadelphia, PA and Director of Speech-Language Pathology at Tender Ones Therapy Services in Dacula, GA. Theresa is co-author of the recently published Rett Syndrome Communication Guidelines and serves as consultant on communication to the International Rett Syndrome Foundation. Most importantly, Theresa is mother to Lisa, a young adult with Rett syndrome.

Madeline Caron MS, CCC-SLP

Madeline Caron MS, CCC-SLP

                   

Madeline Caron is a Pediatric Speech-Language Pathologist at the Vanderbilt Bill Wilkerson Center (VBWC). She serves a full caseload of patients providing evaluations and interventions with a focus on Alternative Augmentative Communication (AAC). The VBWC has an abundance of AAC devices, alternative access toys, and supportive seating that allow her to provide a comprehensive and patient-specific evaluation. Additionally, she is part of the multi-disciplinary team for The Rett Syndrome Clinic at Children’s Hospital. Here, she works with families around the country who come into the clinic to provide communication support for the child as well as for the family.

Tristen Dinkel, MSPC, BSN, CNRN, CPN

Tristen Dinkel, MSPC, BSN, CNRN, CPN

                   

Tristen Dinkel, MSPC, BSN, CNRN, CPN is the Rett Clinic Nurse Coordinator & Neurogenetic and Neurodegenerative Disease Program Nurse Coordinator at Children’s Hospital Colorado. Tristen has been a nurse for 15 years with experience caring for neurology patients both inpatient and outpatient. She graduated from Trinity Christian College with her Bachelors in Science of Nursing and from University of Colorado with her Masters in Science of Palliative Care. Her passion is endless support for patients through all ages and she believes in quality and compassion at every stage of care.

Karen Erickson, PhD

Karen Erickson, PhD

                   

Karen Erickson, Ph.D. is the David E. and Dolores “Dee” Yoder Distinguished Professor in Literacy and Disability Studies in the Department of Allied Health Sciences, School of Medicine at the University of North Carolina at Chapel Hill. Karen is also the Director of the Center for Literacy and Disability Studies and a Professor in the Division of Speech and Hearing Sciences. Karen is a former teacher of students with significant disabilities. Her current research addresses literacy and communication assessment and intervention for students with extensive support needs, as well as the supportiveness of augmentative and alternative communication in interaction.

Andrea Etkie, MA, CC-SLP

Andrea Etkie, MA, CC-SLP

                   

Andrea Etkie is a Speech-Language Pathologist with a decade of experience working with students with complex communication needs. Originally from South Florida where she worked one-on-one with individuals who use augmentative communication, Andrea has relocated to pursue a doctoral degree at UNC Chapel Hill under the mentorship of Karen Erickson. Her research interests include literacy and language intervention. Specifically, she is interested in eye-tracking during shared reading experiences in individuals with Rett syndrome. When she is not busy reading, writing, or doing research, you can find her at the park with her three sons.

Kyle Fink, PhD

Kyle Fink, PhD

                   

Following a PhD from Central Michigan, a PhD from the University of Nantes, and an NIH-sponsored postdoc at the UC Davis Institute for Regenerative Cures, Dr. Fink was awarded space and resources from the Neurology Department and the Institute for Regenerative Cures to form an independent team, as a PI in 2017. The Fink laboratory focuses on the therapeutic development of gene modifying modalities such as CRISPR/Cas9 to treat genetically-linked neurological disorders. His key interest in this field involves understanding the therapeutic benefit in human cellular models of disease, functional efficacy in transgenic rodent models, and optimization of delivery modalities in clinically-relevant models.

Suzanne P. Geerts MS, RD, LD

Suzanne P. Geerts MS, RD, LD

                   

Suzanne P. Geerts MS, RD, LD is a Registered Dietitian with the University of Alabama in Birmingham (UAB) Developmental Behavioral Pediatrics/UAB Civitan Sparks Clinics, UAB Genetics and the UAB Rett Syndrome Center of Excellence. She serves as faculty in the Maternal Child Health (MCH) Leadership Education in Neurodevelopmental (LEND) and Leadership in Pediatric Nutrition Education (LEPN) training grants. She is also faculty in the UAB Department of Pediatrics Project ECHO Autism and UAB Nutrition Sciences Faculty and Dietetic Internship Preceptor.

In 2002, she joined the staff of UAB Civitan Sparks Clinic to provide nutrition care to children and adults with developmental disabilities, and genetic metabolic disorders. Since 2003, a major part of her clinical activities has been with the UAB Rett Syndrome Team under the direction of Dr. Alan Percy MD, Amitha Ananth MD, and Jane Lane BS, RN. She was actively involved in nutrition care and research in the UAB Rett (RTT) Syndrome Clinic and former NIH Rett Syndrome Natural History Study 2005 to 2021.

Rocco Gogliotti, PhD

Rocco Gogliotti, PhD

                   

Dr. Rocco Gogliotti obtained his Ph.D. in Biomedical Research from Northwestern University and completed his post-doctoral training in the Warren Center for Neuroscience Drug Discovery at Vanderbilt University. He opened his lab at Loyola University Chicago in 2020, where his research focuses on the integration of genomics and human biomaterial into the drug discovery process for pediatric diseases of the nervous system. This bedside-to-bench approach emphasizes establishing translational relevance early in study design, with the mission of replacing the “more shots on goal” approach to therapeutic development with one that emphasizes “better shots on goal”.

Julian Halmai, PhD

Julian Halmai, PhD

                   

Julian Halmai received his Master’s Degree in Biomedical Sciences from the University of Groningen in the Netherlands. He trained in the lab of Dr. David Segal, a pioneer in gene editing at UC Davis. Dr. Halmai continued his doctoral training at UCD in the lab of Dr. Kyle Fink at the Institute for Regenerative Cures. During his PhD research, Dr. Halmai’s research has demonstrated a paradigm shift in the field of X-linked disorders, demonstrating that a gene on the inactive X chromosome can be reactivated in female cells. He continues his research as a postdoctoral scholar in Dr. Fink’s lab.

Pati King-DeBaun, MS, CCC-SLP

Pati King-DeBaun, MS, CCC-SLP

                   

Pati is a speech-language pathologist who has specialized in communication for individuals with severe and multiple disabilities. She speaks and consults internationally on the topics of interactive communication, augmentative communication, and early literacy for children with disabilities. Pati is known for her hands?on and practical work with children and the use of case studies and video samples in her instruction. She has written numerous articles and published several books and materials on the topic of augmentative communication and early literacy and language skills for children with disabilities. Pati has been instrumental in developing a wide range of innovative technologies for children with disabilities. Pati’s company, Creative Communicating, develops a variety of resources for students with disabilities.

David Koppenhaver, PhD

David Koppenhaver, PhD

                   

David Koppenhaver, Ph.D., Professor of Reading Education at Appalachian State University, holds a Ph.D. in curriculum and instruction from the University of North Carolina at Chapel Hill (UNC), where he co-founded the Center for Literacy and Disability Studies in 1990 and directed its activities until 1998. His professional work focuses on literacy in students with developmental disabilities, including complex communication needs and multiple disabilities. David has received numerous recognitions, including the Distinguished Lectureship of the International Society for Augmentative and Alternative Communication, the Pehrson Chair in Education at Gustavus Adolphus College, and a Fulbright Scholarship at the University of Queensland.

Keerthi Krishnan, PhD

Keerthi Krishnan, PhD

                   

Dr. Keerthi Krishnan earned her B.S in Molecular and Integrative Physiology from University of Illinois, Urbana-Champaign, her Ph.D. in Pharmaceutical Sciences and Pharmacogenomics from the University of California, San Francisco, followed by postdoctoral research in Rett syndrome and cortical development in Cold Spring Harbor Laboratory. Dr. Krishnan has continued working on female mouse models for Rett syndrome as an assistant professor at the University of Tennessee, Knoxville since 2017. Her research focuses on establishing behavioral and cellular biomarkers, with special emphasis on individual variation, in adolescent and adult mouse models. Dr. Krishnan also engages with undergraduates to spread awareness about Rett syndrome in Eastern Appalachian communities.

Website: https://krishnanlab.utk.edu
Twitter : @Keerthikrishna3
Email : [email protected]

Jane Lane, RN, BSN

Jane Lane, RN, BSN

                   

Jane Lane, RN, BSN, a graduate of the University of Alabama, started in the neonatal ICU at Children’s Hospital of Alabama in 1987.  There, she learned of Rett syndrome (RTT) through a nursing colleague. In 1992, she became a research nurse coordinator and ultimately a research nurse manager in Child Neurology at UAB, beginning nearly 30 years of experience in clinical care and research in RTT. She played a fundamental role in the development and conduct of the RTT Natural History Study from 2003-2021 and developed special expertise in the clinical and nutritional issues affecting individuals with RTT, particularly those related to the maturing woman.

Judy Lariviere, MEd, OTR/L

Judy Lariviere, MEd, OTR/L

                   

Judy Lariviere, MEd, OTR/L is an Assistive Technology Specialist who has worked in the field for over 30 years. Over the past few years, Judy has taken her 25 years of work with individuals who have Rett syndrome or related disorders to a new level. She is helping them discover and expand their interests and build new and lasting friendships with peers, even in a virtual world. Judy has also been developing new activity-based page sets for eye gaze devices that are designed to bring joy to children, teens, and young adults while using these with family members and friends. 

Meir Lotan, PT, PhD

Meir Lotan, PT, PhD

                   

Professor Meir Lotan is a physical therapist and researcher teaching at Ariel University, Israel. He is affiliated with the Israeli National Rett Syndrome evaluation team and has been working as a clinician and consultant for the past 30 years. His research projects intend to improve care and therapeutic interventions for individuals with Rett syndrome. He has lectured and consulted about Rett syndrome in many countries, overall evaluating over 600 individuals with Rett syndrome across the globe. His present research interventions focus on remote rehabilitation and scoliosis intervention for our Silent Angels.   

Mickie McCool

Mickie McCool

                   

Mickie McCool is a tenacious advocate for her 24-year-old daughter, Ellie. She relentlessly believes in Ellie’s abilities and potential is determined not to let Ellie be defined by Rett Syndrome. Through Mickie’s efforts, Ellie thrived in an inclusive regular education environment and obtained her high school diploma right on schedule. Through her message of hope, Mickie strives to open the minds of those supporting individuals with Rett syndrome in learning and inclusion. Mickie is a graduate of the Missouri Partners in Policymaking Program, has served as a Missouri Regional Representative and as a member of IRSF’s Family Advisory Board. In addition to presenting at past IRSF conferences, she had the opportunity to address the 2012 Rett Syndrome World Congress in New Orleans. Mickie feeds her passion these days by serving on the Rett Parent Council for Acadia Pharmaceuticals, promoting the Rett Spectrum Clinic at St. Louis Children’s Hospital and Washington University Medical School and as a spiritual director in the St. Louis Archdiocese.

Stephanie Meehan, PhD, CCC-SLP

Stephanie Meehan, PhD, CCC-SLP

                   

Dr. Meehan is a clinical associate professor at the University of Kansas, and she is the co-director of the Pardee Augmentative and Alternative Communication Resource and Research Laboratory. She currently leads a team of clinical practicum students which serves clients across the lifespan with intellectual and developmental disabilities. She teaches the Introduction to AAC course to speech-language pathology master’s students. Her primary professional interests include improving preservice education and training in augmentative and alternative communication and issues of diversity, equity, and inclusion in the field of speech-language pathology.

Lonnie & Sarah Morrison

Lonnie & Sarah Morrison

                   

Lonnie and Sarah Morrison are parents to two wonderful children, a 6-year-old son, and a 4-year-old daughter. Their beautiful daughter, Savannah, has Rett syndrome. Lonnie and Sarah are advocates not only for their own daughter, but they want every person with Rett syndrome to have amazing opportunities to live life vibrantly. Lonnie and Sarah enjoy spending time in the great outdoors with their family, whether it be camping, horseback riding, or hiking.

Kathleen Motil, MD, PhD

Kathleen Motil, MD, PhD

                   

Dr. Kathleen J. Motil is Professor of Pediatrics at the USDA/ARS Children’s Nutrition Research Center, Baylor College of Medicine, and practices pediatric gastroenterology at Texas Children’s Hospital, Houston.  Dr. Motil’s research has focused on gastrointestinal and nutritional issues in children with Rett syndrome.  She conducted studies on energy, protein, calcium, and vitamin D in Rett syndrome.  From the Natural History Study, she described the clinical spectrum of gastrointestinal dysfunction in Rett syndrome.  Most recently, Dr. Motil explored the role of the microbiome and metabolome on gastrointestinal function in Rett syndrome.  Dr. Motil published numerous papers in her field of expertise.

Jessica Nickrand, PhD

Jessica Nickrand, PhD

                   

Jessica Nickrand is a Program Manager at the Child Neurology Foundation, and supports programs related to Transition of Care and Digital Access. She has a degree in Health Policy from Michigan State University and a PhD from the University of Minnesota and is most interested in improving access and health equity, particularly in the areas of racial and disability justice. Jessica is currently based in St. Paul, Minnesota.  

Paige Nues

Paige Nues

                   

As IRSF’s Director of Family Empowerment, Paige leads initiatives focused on building bridges between patient families, clinicians, scientists, and industry to stimulate participation and engagement in research activities, Centers of Excellence, and foster patient-centered research development and design. She also provides a safety net of accurate information through education programs designed to empower families, caregivers, and support teams at all ages and stages, including organ donation for Rett research. Paige served on the Board of Directors as a volunteer Regional Representative and is parent founder of Katie’s Clinic for Rett and Related Disorders at UCSF Benioff Children’s Hospitals. She enjoyed a successful career in sales, marketing, and business development with Fortune 100 companies prior to her daughter Katie’s diagnosis of Rett syndrome in 2003, when she turned her full energy and passion to solving the mysteries of Rett syndrome. She gratefully accomplishes this life work with the full support of her husband and 3 beautiful daughters.

Dominique Pichard, MD

Dominique Pichard, MD

                   

Dr. Pichard has focused her career on patients with rare disorders and complex medical needs. Prior to joining IRSF as the Chief Science Officer, Dr. Pichard held a joint appointment in the Department of Pediatric Oncology and Department of Dermatology at the National Institutes of Health (NIH), where she worked as a clinical investigator. In addition to caring for patients with complex medical needs, her research focused on identifying new treatments and improving clinical trial design for rare diseases. She is a member of the Director’s Council and is the co-Chair of the skin neurofibroma group of Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS), an international effort to develop standardized outcome measures and trial design for clinical trials. Dr. Pichard received her Doctor of Medicine from Georgetown University. She was in a combined Internal Medicine-Pediatrics Residency at the University of Minnesota followed by a Dermatology Residency at Georgetown University. She then completed a Clinical Research Fellowship at the NIH before staying on as faculty.

As the parent of a daughter with Rett syndrome, Dr. Pichard brings a unique passion to her role as Chief Science Officer and is committed to identify research breakthroughs that lead to treatments and ultimately a cure for Rett syndrome. She serves as CSO so that one day our children can do more and struggle less with the challenges of Rett syndrome.

Margarita Saenz, MD

Margarita Saenz, MD

                   

Dr. Margarita Saenz is a practicing clinical geneticist who specializes in pediatric neurogenetics. She sees patients with intractable epilepsy, brain malformations, Rett syndrome and neurodegenerative conditions to name a few. She found being a genetic physician a perfect career choice for her because it allowed her to consolidate her love of academics, children, and helping those with special needs. Her personal experience having a sister with a genetic condition has helped her understand how genetic conditions impact every aspect of an individuals and their family’s life.  She is dedicated to the education, recruitment, and retention of underrepresented backgrounds in medicine.

Gerna Scholte, Bsc SLT & MA SLP

Gerna Scholte, Bsc SLT & MA SLP

                   

Gerna Scholte has worked with 70+ individuals with Rett syndrome and their families in the Netherlands, Sweden & United States. She is a licensed PODD trainer and applies the strategies across various low-tech and high-tech communication platforms to adapt to the individual’s needs.  

In 2011 she conducted her first review for the Dutch Parent Association, a fruitful collaboration was born! Several of the families have become her personal friends. In 2017 she launched the first Network of SLP’s for Rett Syndrome in the Netherlands. She leads this and other networks alongside Dr. Gill Townend. Gerna has been trained by various experts; Linda Burkhart, Gayle Porter (PODD), Susan Norwell (AAC for Rett). 

Aloysia Schwabe, MD

Aloysia Schwabe, MD

                   

Dr. Aloysia Schwabe is the Division Chief of Pediatric Physical Medicine and Rehabilitation (PM&R) at Texas Children’s Hospital in Houston, Texas, and an Associate Professor at Baylor College of Medicine,  PM&R and Pediatrics Departments. She is Co-Director of the Motion Analysis Lab at Texas Children’s Hospital where children with gait disorders including Rett syndrome are evaluated.  Dr. Schwabe has a specialized interests in spasticity and dystonia management as well as assistive technology for individuals with disabilities.  She enjoys developing multi-disciplinary clinics where children can be evaluated with a team approach combining expertise from PM&R, neurology, neurosurgery and orthopedics.

Scott Schwantes, MD

Scott Schwantes, MD

                   

Dr. Schwantes is board-certified by the American Board of Pediatrics and the American Board of Hospice and Palliative Medicine. Additionally, he is a fellow within the American Academy of Pediatrics and the American Academy of Hospice and Palliative Medicine. He has dedicated his career to working with children suffering from distressing symptoms, and is renowned locally, nationally, and internationally for his efforts which have included published articles, book chapters, presentations, keynote addresses, and service in leadership positions.

Dr. Schwantes works with the interdisciplinary team at Children’s MN to address the child’s needs as a whole person, including the child’s family. He combines a holistic approach to the relief of the child’s distressing symptoms, including blending traditional western medicine and acupuncture. Dr. Schwantes enjoys spending time with his wife and children and exploring life’s adventures together. He enjoys carpentry, remodeling, cooking, reading, traveling, and the outdoors.

Kacy Seitz, CLTC, ChSNC

Kacy Seitz, CLTC, ChSNC

                   

Financial Advisor & Special Needs Planning Specialist, Northwestern Mutual

Special needs parent and mom to Hudsyn, her daughter who has complex medical needs, Kacy is a financial advisor in Kansas City. After six years in the financial services industry, she opened her practice with Northwestern Mutual in 2013 because she had difficulty finding good, sound advice from a variety of financial advisors who could help her develop a solid plan for her daughter. Her purpose in life is to awaken understanding and help others become empathetically aware of people with disabilities. She focuses on helping special needs families with proper financial planning throughout their lifetimes. Her book, “Every Now & Then, I Fall Apart: A Mother’s Memoir of Life After a Traumatic Birth” is scheduled to be published in 2021.

Her husband, Dan, is a stay-at-home dad who cares for their two children and has a successful YouTube channel documenting the daily life of a special needs dad, called “See The Seitz.”

Whether a family has substantial means or a few assets, it is critical to take time to develop and implement a special needs plan. There are unique circumstances along with many decisions to be made that can have a profound impact on a child’s quality of life while caregivers are living, and after they’re gone. A proper special needs plan can help avoid common mistakes and oversights that could jeopardize the lifetime support of a person with disabilities.

Kacy leads a Northwestern Mutual study group of over 100 advisors in 31 states that focus on learning, professional development and building skills during monthly calls to better serve the special needs communities
across the country.

  • Her boutique practice serves over 500 special needs families in 27 states.
  • Chartered Special Needs Consultant (ChSNC)
  • Certified Long-Term Care Specialist (CLTC)
  • Kansas Governor appointed parent advocate for the Kansas Developmental Disabilities Council and the Advisory Commission for Children with Special Health Care Needs
  • Children’s Mercy Hospital Family Advisory Board member, Beacon Complex Care Clinic Patient & Family Advisory Board Chair, and a variety of other parent mentor positions held since 2014. She was named the hospital’s volunteer of the month for December 2020.
  • Regular presenter and speaker for: Kansas City Special Needs Ministry Network, Archdiocese of Kansas and Missouri, National Center on Deaf-Blindness & the Children’s Center for the Visually Impaired
Girish D. Sharma, MD, FAAP, FCCP

Girish D. Sharma, MD, FAAP, FCCP

                   

Dr. Sharma is a professor of pediatrics at Rush University, Chicago, and the Chief of the Division of Pediatric Pulmonology and Director of the Rush Cystic Fibrosis Center at Rush University Medical Center Chicago. His interests include pulmonary management of neuromuscular disorders including Rett syndrome. He has multiple publications and presentations on neuromuscular disorders including multiple guidelines and consensus statements. He serves as a consultant for the international study of the Burden of Illness in Rett syndrome and has had multiple publications on Rett syndrome.

Gill Townend, MRCSLT, PhD

Gill Townend, MRCSLT, PhD

                   

Gill Townend, PhD, MPhil, BMedSci(Speech), MRCSLT, HCPC registered is a Speech-Language Pathologist with long-standing clinical and research experience. She is a Researcher at the Rett Expertise Centre Netherlands, Maastricht University, and Project Lead for Rett UK’s Communication and Education Team. She is Chair of the Rett Syndrome Europe Scientific Advisory Board. From 2016, Gill led the IRSF-funded project to develop the Rett Syndrome Communication Guidelines. Since the publication of the guidelines in 2020, she has been working on implementation and translation into other languages. She is co-founder of support and training networks for SLPs working with people with Rett syndrome in the UK and Netherlands, and the Rett UK network of Regional Communication Champions who provide support and training for families.

Maggie Wurm

Maggie Wurm

                   

Maggie Wurm, (AT/AAC Specialist, Special Educational Advocate and mom) is an Augmentative Communication and Assistive Technology Consultant in Massachusetts and Connecticut working with all ages in person and virtually. Her passion that drives her career comes from her sassy lassie gal Madasyn living with Rett syndrome, who just turned the big 21! Their journey began when Mads started using AT at age 4. Today she works with all able bodies with complex communication needs, cognitive, mobility impairments, sensory sensitivities, and other disabilities. She continues to be mentored by powerhouses in the industry.