“It’s so important that parents understand that if you have a diagnosis, like dystonia, you’re not really getting the true diagnosis. You’re getting the symptom. It used to be a diagnosis, but today we can know so much more.”

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.

• 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 genetic sequencing into newborn screenings
• 23:30 What was known upon diagnosis and others 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

Gay has been active in the Rare Disease community for over two decades and continues her efforts to build and support patient and family advocacy. After her daughter, Lilly (25), an n-Lorem patient, was diagnosed with ADCY5, Gay co-founded ADCY5.org, the foundation for ADCY5-related dyskinesia. ADCY5.org builds a community for hundreds with the disease and supports world-renowned researchers who study the gene and its variant.

Gay recently started a role with Ciitizen, Invitae’s data platform, where she oversees patient engagement. Gay states, ”I have a strong desire to help families understand the importance of both genetic testing and collecting medical records which can now be used to support or take the place of natural history study efforts thanks to Ciitizen.” Ciitizen is a complete clinicogenomic offering comprised of deep, patient-centric genetic, clinical and patient reported data. The platform provides access to patients’ medical records as they travel from provider to provider for free. 

Gay is the former Director of Patient Advocacy & Engagement at Neurogene Inc., where she served for nearly 5 years. She currently volunteers as a patient ambassador for Illumina and is on the Executive Council of the Rare Advocacy Movement. Gay applies her life learning to help other rare disease families and successfully advocates by speaking in a variety of environments including, but not limited to, educational classrooms, private, state, and federal insurance, as well as collaborating in the rare disease space to gain access to clinical trials and medical therapies. 

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