Dreamers Health Exclusive | Angelman Syndrome Foundation CEO скачать в хорошем качестве

Dreamers Health Exclusive | Angelman Syndrome Foundation CEO

Video Description: What is Angelman Syndrome? In this exclusive interview, we sit down with Amanda, CEO of the Angelman Syndrome Foundation (ASF), to discuss the reality of living with this rare neurogenetic disorder and the incredible hope on the horizon for families worldwide. Amanda shares her deeply personal journey—from adopting twins to the challenging 19-month search for a diagnosis for her son, Jackson. She dives into the mission of the Angelman Syndrome Foundation, explaining how they are revolutionizing care through 35 multidisciplinary clinics, financial grants via the Family Fund, and essential mental health support for caregivers. In this video, you will learn about: • The Science of Angelman Syndrome: Understanding the deletion/mutation on the 15th chromosome and the missing UBE3A protein. • The Path to Diagnosis: Why genetic testing is the "one blood prick" that changes everything. • Breaking Misconceptions: Why you should never underestimate the potential of an individual with Angelman Syndrome. • The Future of Research: An inside look at clinical trials aiming to activate the paternal gene and provide life-changing treatments. • Finding Joy in the Journey: Why Amanda describes her community as "amazing warriors" filled with unconditional love. Whether you are a newly diagnosed family, a medical professional, or an advocate for rare disease awareness, this conversation provides a roadmap for support, resources, and hope. 🔗 RESOURCES MENTIONED: • Angelman Syndrome Foundation: https://www.angelman.org • The Angelman Syndrome Podcast • ASF Family Fund: Financial assistance for clinical travel and adaptive equipment TIMESTAMPS: 0:00 - Introduction to Angelman Syndrome & the UBE3A Protein 2:15 - The History of "Happy Puppet Syndrome" to Angelman Syndrome 4:30 - Amanda’s Personal Story: Adoption and the Road to Diagnosis 8:45 - Coping with Grief and Finding Your Community 11:00 - Common Misconceptions: What the Doctors Got Wrong 15:45 - Prevalence: How Common is Angelman Syndrome? 18:20 - The Power of Multidisciplinary Clinics 21:30 - The ASF Family Fund & Mental Health Program 25:10 - Clinical Trials: Activating the Paternal Gene 30:20 - The Future: Is There a Cure for Angelman Syndrome? 33:00 - A Message of Hope and Unconditional Joy SUBSCRIBE for more exclusive interviews from Dreamers Health. #AngelmanSyndrome #RareDisease #SpecialNeedsParenting #GeneticTesting #ASF #DreamersHealth #Neurology #Inclusion #SpecialNeedsSupport