Rare Epilepsy Network (REN)

We are thrilled to share that DEE-P Connections, in partnership with the Rare Epilepsy Network (REN), held a DEE Patient Listening session yesterday with members of the FDA. During the session, families from a range of DEE/NDD communities highlighted the similar challenges our children with DEEs/NDDs face including refractory seizures, as well as a wide array of non-seizure concerns that affect quality of life such as challenges with communication, fine and gross motor skills, intellectual disability, sleep disruptions, hypotonia, behaviors, cortical visual impairment (CVI), pulmonary issues, and more. Part of the conversation focused on what matters most to families in the context of clinical trials and Megan Wright, mom to Lexi who lives with KCNT1 epilepsy shared what many of us believe “No improvement would be too small.” In addition, Professor Jenny Downs shared recent data from The Inchstone Project on the limitations of existing clinical outcome assessments (COAs) which are unable to measure small but meaningful improvements in those with profound impairments. She also outlined the abilities, priorities for improvement and unmet needs of the DEE/NDD community shared by parents in our recent community caregiver survey. Please share widely to help spread the word and follow DEE-P Connections to stay posted as we share more from this meeting in a summary report and future webinar. We are grateful to all of the caregivers who were willing to so openly share their stories as well as the FDA for listening to the challenges, needs and priorities of the DEE/NDD community. This was an incredibly powerful step forward in the conversation about quality of life and meaningful change for DEEs/NDDs in the context of clinical trials. Funding support from Longboard Pharmaceuticals and Neurocrine Biosciences allowed us to bring in the incredible Richie Kahn and Jennifer McNary from Canary Advisors? and Carolina Consuegra from Science2People to help us prepare for, execute and document the session so seamlessly. Christina SanInocencio, PhD, CPH, CNP Shannon Guardiola Shawn Egan, Ph.D. Karen Utley minoo saadatyar Patricia Geurds JayEtta Hecker Ilene Penn Miller International Foundation for CDKL5 Research (IFCR) CRELD1 Warriors SCN2A- The FamilieSCN2A Foundation International SCN8A Alliance FOXG1 Research Foundation KCNT1 Epilepsy Foundation #ClinicalResearch #ClinicalTrials #DEEs #NDDs #PatientCentered #Healthcare #Medicine #MeaningfulChange #TheInchstoneProject #CountEveryInchstone #Genetics #Biotech #ClinicalDevelopment #Seizures #Epilepsy #RareEpilepsies #Comorbidities

We are thrilled to share that DEE-P Connections, in partnership with the Rare Epilepsy Network (REN), held a DEE Patient Listening session yesterday with members of the FDA. During the session, families from a range of DEE/NDD communities highlighted the similar challenges our children with DEEs/NDDs face including refractory seizures, as well as a wide array of non-seizure concerns that affect quality of life such as challenges with communication, fine and gross motor skills, intellectual disability, sleep disruptions, hypotonia, behaviors, cortical visual impairment (CVI), pulmonary issues, and more. Part of the conversation focused on what matters most to families in the context of clinical trials and Megan Wright, mom to Lexi who lives with KCNT1 epilepsy shared what many of us believe “No improvement would be too small.” In addition, Professor Jenny Downs shared recent data from The Inchstone Project on the limitations of existing clinical outcome assessments (COAs) which are unable to measure small but meaningful improvements in those with profound impairments. She also outlined the abilities, priorities for improvement and unmet needs of the DEE/NDD community shared by parents in our recent community caregiver survey. Please share widely to help spread the word and follow DEE-P Connections to stay posted as we share more from this meeting in a summary report and future webinar. We are grateful to all of the caregivers who were willing to so openly share their stories as well as the FDA for listening to the challenges, needs and priorities of the DEE/NDD community. This was an incredibly powerful step forward in the conversation about quality of life and meaningful change for DEEs/NDDs in the context of clinical trials. Funding support from Longboard Pharmaceuticals and Neurocrine Biosciences allowed us to bring in the incredible Richie Kahn and Jennifer McNary from Canary Advisors? and Carolina Consuegra from Science2People to help us prepare for, execute and document the session so seamlessly. Christina SanInocencio, PhD, CPH, CNP Shannon Guardiola Shawn Egan, Ph.D. Karen Utley minoo saadatyar Patricia Geurds JayEtta Hecker Ilene Penn Miller International Foundation for CDKL5 Research (IFCR) CRELD1 Warriors SCN2A- The FamilieSCN2A Foundation International SCN8A Alliance FOXG1 Research Foundation KCNT1 Epilepsy Foundation #ClinicalResearch #ClinicalTrials #DEEs #NDDs #PatientCentered #Healthcare #Medicine #MeaningfulChange #TheInchstoneProject #CountEveryInchstone #Genetics #Biotech #ClinicalDevelopment #Seizures #Epilepsy #RareEpilepsies #Comorbidities

It's Epilepsy Awareness Month and no better time to remind you that siblings of children with epilepsy can be severely impacted by this journey. Some can even experience trauma. In our latest Power Hour, licensed clinical social worker Eileen Devine explored the unique challenges faced by families with children who have epilepsy. This session is EXCELLENT and a must-see—even if there are no siblings in the family! Watch here: https://ow.ly/PHp850U2yo6 Key Takeaways: ? Self-Compassion for Parents: Caring for a child with epilepsy is complex. Parents must practice self-compassion, resilience, and adaptability in the face of these challenges. ? Supporting Siblings: Epilepsy can often create trauma that needs to be validated with open communication and empathy. ? Building Safety Plans: Practice thoughtful communication and the importance of safety plans to create a secure, understanding environment for all siblings. Pediatric Epilepsy Surgery Alliance #epilepsy #epilepsyawareness #NEAM2024 #EpilepsyAwarenessMonth #PESAlliance

?? Exciting News: We're launching Navigating Insurance for Genetic Testing, a 3-part webinar series aimed at easing the challenges of insurance coverage for genetic testing. Episode 1: Understanding Your Insurance will guide you in decoding your policy, organizing your paperwork, and understanding key terms. Future episodes will cover the appeals process and share resources to help you navigate this complex journey with confidence. Stay tuned for dates and join us in this empowering series. #GeneticTesting #WebinarSeries #InsuranceSupport #CNFCommunity #childneurology

?? Exciting News: We're launching Navigating Insurance for Genetic Testing, a 3-part webinar series aimed at easing the challenges of insurance coverage for genetic testing. Episode 1: Understanding Your Insurance will guide you in decoding your policy, organizing your paperwork, and understanding key terms. Future episodes will cover the appeals process and share resources to help you navigate this complex journey with confidence. Stay tuned for dates and join us in this empowering series. #GeneticTesting #WebinarSeries #InsuranceSupport #CNFCommunity #childneurology

One Year Stronger! ?? A year ago, we were thrilled to announce that the v-ATPase Alliance became an official 501(c)(3) nonprofit organization. With your support, we've made significant strides in our mission to improve the lives of those affected by v-ATPase disorders but we also need to acknowledge the heartbreaking reality that some patients with v-ATPase disorders have passed away. Their memory fuels our determination to find a cure. Here's a glimpse of our achievements: ??Connecting the dots: We launched a Data Collection Program with RARE-X , allowing us to better understand the disease and develop effective treatments. ??Joined forces: We're proud members of the Rare Epilepsy Network (REN) and Epilepsy Foundation, collaborating on research, information and advocacy. ??Accelerated progress: We've been selected for the FasterCures program to expedite research breakthroughs. ??Empowered communities: We host family gatherings, webinars with top experts, and informative newsletters - if you did not receive it, send us a note and we will include you - new edition coming out ?? and soon! We have our own Community in Action - Fundraise Page and even have a campaign active right now: https://lnkd.in/dX_fbk8x Best of all, we became closer, we got to know a bit more about each family and... most importantly we were able to find more families. NOTHING right now is more important than to know all the patients: how they are doing and their clinical history. The more patients we have, the more data we are able to access and achieve our mission. And this is why we are going to give you a glimpse of who we are and share important reported data with everyone. Join us in our fight to create a brighter future. Donate today and help us continue our groundbreaking work. https://lnkd.in/d7CRgzqW #vATPaseAlliance #RareDisease #Nonprofit #Research #Community #Hope #vATPaseAllianceAnniversary #OneYearStronger #RareDiseaseWarrior #HopeHeals #ScientificBreakthrough #CommunityPower #PatientAdvocacy #ResearchMatters #GeneticDisorders #HealthcareInnovation #Celebration