📣NEW PUBLICATION ALERT Communication ability is a major challenge for children with rare, neurodevelopmental disorders. This qualitative study included interviews with caregivers of children diagnosed with one of 12 different neurodevelopmental syndromes, including Malan syndrome. These interviews helped the researchers understand what aspects of communication are most important and meaningful to families. We are thankful to Drs. Christy Zigler and Bryce Reeve, the entire study team at Duke University and COMBINEDBrain - Outcome Measures and Biomarkers for Neurodevelopmental, and the many caregivers that participated. Read the full paper here: https://pubmed.ncbi.nlm.nih.gov/41114730/ (fb)

Malan families: we are often the detectives of rare care...putting all the evidence together (organizing documents, decoding medical records, preparing for appointments). Now, we finally have a tool to help us! AI Advocate, powered by Citizen Health, is a first-of-its-kind tool to search medical records fast and get us answers. Have you tried it out? You can ask AI Advocate a question like: "Angela's doctor told us that Angela has a missense variant. What does that mean?" "What medications has my child been on?" "What are my child's MRI findings?" "My child has an upcoming appointment with endocrinology. Based on my child's medical records, what symptoms should I discuss?" Give it a try today by signing into your account using the following link: www.citizen.health/ai-advocate/malan-syndrome-foundation If you're not signed up for Citizen, it only takes 5 minutes. Use the link above. #MalanSyndrome #NFIX #Neurogenetics #rarediseaseadvocate #research (fb)