On October 27, families, clinicians, researchers, and community professionals and service providers gathered for a day-long conference, in partnership with Rettsydrome.org, highlighting the Vanderbilt Kennedy Center (VKC) Rett Syndrome Program.
“The Vanderbilt University Medical Center’s Rett Syndrome Clinic was named a Rett Syndrome Clinical Research Center of Excellence by Rettsyndrome.org in December 2016,” said Jeffrey Neul, M.D., Ph.D., Annette Schaffer Eskind Chair, professor of Pediatrics, and Vanderbilt Kennedy Center (VKC) director. “Only 14 sites nationally have received this designation. Since then, with researchers here already engaged in research on Rett syndrome and with the recruitment of new Vanderbilt faculty, we now have core and affiliated clinical and research faculty to provide one of the nation’s few comprehensive Rett syndrome programs.”
At Rett Syndrome Education Day, Neul announced the new VKC Rett Syndrome Program website, which includes sections describing the Clinical Team, Research Team, Family Resources, Research, News/Events, and About Rett. The site also includes quick links to request clinic appointments, to refer a patient, or to email the Rett Syndrome program coordinator, Nicole Thompson.
“We have assembled an amazing team of specialists with expertise in the diagnosis, evaluation, and treatment of Rett syndrome and related disorders with a focus on precision care,” said Sarika Peters, Ph.D., assistant professor of Pediatrics and VKC investigator.
At Rett Education Day, Rett program researchers and clinicians shared insights on drug discovery, current research, healthy sleep methods, and various therapies available at the Rett Syndrome Clinic. Among the attendees were representatives of family members with Rett as young as 2 ½ and as old as 55.
Attendees were welcomed by Paige Nues of Rettsyndrome.org, who collaborated with VKC faculty and staff in planning this rare Rett Syndrome Education Day.
“Rett syndrome is such a complex progressive neurodevelopmental disorder,” said Nues, director of Family Empowerment at Rettsyndrome.org. “Families need insight, support, and direction at every stage of their journey beyond their clinical and research study appointments, and they deserve to hear and understand the hope of research. We are so grateful and encouraged that Vanderbilt is supporting a comprehensive Rett Program as well as community education conferences such as this Education Day. It was a pleasure to partner in showcasing the program to families and the community, engaging in dialog, and we look forward to fulfilling the promise of help for all affected who will come here to the Vanderbilt Kennedy Center.”
The day began with a parent, Jaimie Patrick, sharing their family’s story with her 5-year-old daughter Savannah. Patrick, a resident of Dickson, Tennessee, is a member of the Community Advisory Council of the VKC University Center for Excellence in Developmental Disabilities. While speaking to the audience, she proudly shared that her daughter could not attend the workshop that morning because she instead chose to play softball with her friends on their special needs-modified Little League team.
“I want to encourage you all to find the right placement for your kids. Don’t just accept what is given to you,” Patrick said. “Since Savannah’s diagnosis, we’ve been focused on her abilities, not just her disability. Savannah is a little girl. She’s very brave, and she’s my hero. She’s a little girl who happens to have Rett syndrome, but she isn’t just Rett syndrome.”
Speakers and topics included:
- Introduction to the Vanderbilt Center for Neuroscience Drug Discovery: Focus on New Therapeutics for Drug Discovery—Colleen Niswender, Ph.D., research professor of Pharmacology, VKC investigator, and director of Molecular Pharmacology, Vanderbilt Center for Neuroscience Drug Discovery
- Personalized Medicine for Rett Syndrome: Matching the Right Target to the Right Patient—Rocco Gogliotti, Ph.D., research assistant professor of Pharmacology
- Using Cellular and Animal Models to Develop and Test Therapies—Jeffrey L. Neul, M.D., Ph.D., Vanderbilt Kennedy Center
- Investigating the Epigenetics of Rett Syndrome—Lisa Monteggia, Ph.D., Vanderbilt Brain Institute
- Deciphering Neuro-Habilitation Strategies: Reshaping Brain Plasticity in Famale Mouse Model of Rett Syndrome—Keerthi Krishman, Ph.D., assistant professor, University of Tennessee Knoxville
- Clinical Care Overview—Cary Fu, M.D., assistant professor of Pediatrics and Neurology, and Sarika Peters, Ph.D., assistant professor of Pediatrics and VKC investigator
- Seizure and Epilepsy in Rett Syndrome—Cary Fu
- Sleep in Rett and Related Disorders—Beth Malow, M.D., M.S., Burry Chair in Cognitive Childhood Development, professor of Neurology and Pediatrics, VKC investigator
- Nutrition—Suzanne Geerts, M.S., R.D., L.D., Rett Syndrome Clinic, University of Alabama at Birmingham
Accessing Services Across the Life Span
- Service Navigation—Megan Hart, M.Ed., director of Tennessee Disability Pathfinder, VKC UCEDD
- School-Age Advocacy—Ellen Casale, Ed.S., Volunteer Advocacy Program coordinator, VKC UCEDD
- Advocacy for Transition into Adult Service Systems—Carol Rabideau, LCSW, social worker, VKC UCEDD
- Assistive and Augmentative Communication—Mike Mann, M.S., ATP, rehabilitation engineer, Technology Access Center
Clinical Research Opportunities
- Clinical Research at VKC Rett Syndrome Program—Sarika Peters, Ph.D.
- Clinical Trials, NIH Natural History Study and More—Jeffrey Neul, Ph.D.
- Patient Advocacy and Leadership—Melissa Kennedy, Executive Director
- Family Research Readiness and Empowerment—Paige Nues, Director
- Family and Community Engagement—Samantha Brant, Manager
- Research Grants—Janice Ascano, Ph.D., Manager
The day ended with a Halloween Fest, providing time for families to have fun and to network.
Rett syndrome is a neurodevelopmental disorder that affects girls almost exclusively. It is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability.
Nearly all cases of Rett syndrome are caused by a mutation in the methyl CpG binding protein 2, or MECP2, gene. Doctors clinically diagnose Rett syndrome by observing signs and symptoms during a child’s early growth and development, and by conducting ongoing evaluations of the child’s physical and neurological status.
For information, contact firstname.lastname@example.org.
Jan Rosemergy is director of VKC Communications; Elizabeth Turner is associate program manager for VKC Communications
Pictured top of page: Jeffrey Neul, M.D., Ph.D., with families attending Rett Syndrome Education Day. Photo by Nicholas Holt.