Yesterday
51m 54s
In this episode of Inside the Children's Hospital, Katie Taylor sits down with Dr. Matt Goldstein—physician, biotech leader, and father—who shares the story of his daughter, Havi, and her diagnosis with Tay-Sachs disease.
Despite both parents undergoing genetic screening before starting their family, a testing error led to a missed diagnosis. Javi appeared to develop typically at first, but over time, subtle changes led to a life-altering realization: she had a rare, fatal neurodegenerative condition.
As a physician, Matt was trained to solve problems. As a parent, he was driven to protect his child. But in the face of a disease with no cure, he and his wife had to redefine what "doing everything" truly meant.
From navigating complex medical decisions to choosing presence over intervention, Matt shares how their family embraced a different path—one centered on love, connection, and living fully in the time they had.
This conversation is a powerful reflection on grief, meaning, and the transformative impact of parenthood.
What it was like to receive a Tay-Sachs diagnosis after reassuring genetic testing
How a medical error changed the course of their family's life
The emotional tension between medical training and parental instinct
What it means to "do everything" in a non-medical way
How Havi communicated joy, preferences, and personality without words
The role of community and parent-to-parent connection during grief
How the family created meaningful traditions, including weekly "Shabirthdays"
The impact of loss on identity, purpose, and career direction
What Tay-Sachs disease is and how it affects the body
The limitations—and importance—of genetic screening
Why preventive genetics is one of the most powerful tools in modern medicine
How families can approach decision-making when facing life-limiting diagnoses
The importance of redefining quality of life beyond clinical outcomes
How grief and love can coexist—and shape the way we live
E-motion-Non-profit organization created by Myra that supports bereaved mothers
JScreen (Genetic Testing & Education)
57 Fridays (memoir by Myra Sack)
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Medical information provided is not a substitute for professional advice—please consult your care team.
Keywords:
Tay-Sachs disease, Tay-Sachs awareness, rare disease podcast, pediatric rare disease, genetic disorder, infant Tay-Sachs, neurodegenerative disease, parenting a medically complex child, caregiver support, special needs parenting, navigating rare disease, pediatric neurology, genetic testing, childhood illness, family medical journey, emotional support for families, healthcare podcast, Child Life On Call Podcast, family resilience, living with Tay-Sachs