Family Resources

Treatment Guide for FamiliesA practical family-facing overview of evaluations, therapies, and ongoing care. PPM1D Related Publication (June 2022)A publication overview exploring genome sequencing and PPM1D-related findings in pediatric acute-onset neuropsychiatric syndrome. Template for a JdVS Introduction LetterAn adaptable template to help families introduce JdVS and their child’s needs to educators, providers, and others. GenidaLearn about the Genida collaborative research project and how family experiences can strengthen rare-disease knowledge. Dr. Lachman’s iPS Cell Research at Einstein MedicalInformation about PPM1D-focused iPS cell research led by a JdVS Medical Advisory Board member. Guidance from a TeacherPractical classroom considerations and collaboration ideas for educators supporting a student with JdVS. BearGenes VideoA video series explaining genetics visits, newborn screening, genetic testing, and related topics. What Families Need to Know About Genetic TestingAn accessible overview of what families may want to know when genetic testing is recommended. Understanding Rare Chromosome and Gene DisordersA supportive resource for families navigating a rare chromosome or gene diagnosis. JdVS/PPM1D PublicationsA collection of foundational Jansen-de Vries syndrome and PPM1D research publications. Common Physical Attributes Associated with JdVSAn overview of physical features sometimes associated with JdVS and PPM1D-related syndrome. Common Medical Issues Associated with JdVSAn overview of medical issues that may occur with JdVS, including gastrointestinal, visual, and sensory concerns. Ideas for Explaining a Child’s DifferencesA family resource inspired by a JdVS child, with ideas for discussing differences with children and siblings. Learning & JdVSA resource to help parents and caregivers navigate learning needs and supports in the school environment. Current JdVS ResearchAn overview of current Jansen-de Vries syndrome research and opportunities to follow the field as it develops. AveryA family resource shared by the JdVS community. JdVS UpliftA community resource created to uplift and connect JdVS families. Therapies for JdVSTherapy considerations and collaboration ideas for professionals supporting a person with JdVS. Information to Provide Families After DiagnosisA concise set of starting points that physicians and other professionals can share with a family after a JdVS diagnosis. Understanding a Student with JdVSA shareable education sheet covering learning, communication, processing, memory, sensory and social needs, executive functioning, motor skills, fatigue, toileting, feeding, GI concerns, and transitions. Connect With the FoundationReach out when you need help finding information or connecting with the community.