No Manual, No Map: The Start of a Rare Disease Journey

Send us Fan MailNolan’s future depends on what we do right now. Kara has fought relentlessly to get her son to this moment. Your support, whether large or small, helps turn scientific hope into real treatment for Nolan and stability for his family. Please donate today --> https://give.rarevillage.org/campaign/733811/donateWe break hiatus to share Kara’s story of Nolan’s birth, crisis, and the fight to turn rare disease from a verdict into a plan. From induced coma and surgical hurdles to N-Lorem, we trace how a parent can move science toward real impact.• Nolan’s traumatic birth, seizures, and NICU coma care• Genetic diagnosis and first-line seizure strategies• G tube placement, hip reconstruction, and line infections• Ketogenic diet benefits and a rare, severe complication• PICU admission with anemia, scurvy, rickets, and recovery• ACTH trials, status seizures, and EEG realities• Family resilience, sibling empathy, and community support• The turn to ASO and CRISPR for KCNQ2• N-Lorem acceptance and current progress• Reflection pause and preview of part two airing WednesdayTake care and thank you for joining usSupport the showLove this content? Check out our links below for more!Linktr.ee ContentInstagramYouTubeJenny's LinkedIn