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Pursuing Diagnoses and Sequencing
Manage episode 367287226 series 3349924
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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
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