Pursuing Diagnoses and Sequencing

Gay Grossman is the mother of an n-Lorem patient and co-founder of ADCY5.org. She has been active in the rare disease space for 25+ years and continues to fight and advocate for patients every single day by connecting ADCY5 families, speaking at events, and informing the entire rare community. On Wednesday, Gay joins the Patient Empowerment Program podcast to discuss her daughter, Lilly, lessons that she has learned as a rare disease mom and advocate, the difficulty of gathering and sharing medical records before the creation of Ciitizen, and why newborn genomic sequencing should be introduced in the United States today. On This Episode We Discuss: 0:00 What is Ciitizen? 3:14 The difficulty of sharing medical records before Ciitizen 5:55 Gay’s daughter, Lilly, is an n-Lorem patient 10:00 Finding an initial pediatrician to help Gay and her family diagnose and understand Lilly’s gene mutation 11:45 Lilly’s nightly seizures and wondering what it would take to receive a diagnosis 15:05 How caffeine helps Lilly and others with ADCY5 mutations 18:35 What Lilly is doing nowadays 19:48 How Lilly’s genes were sequenced 21:00 Advocating to introduce newborn sequencing into newborn screenings 23:30 What was known upon diagnosis and other’s with ADCY5 mutations 28:13 Lessons that Gay learned from her 25+ years of rare disease care and advocacy 33:19 The progress n-Lorem has made since inception