
Squawk Pod The Path with Becky Quick: Life with a Rare Disease 1/8/26
Jan 8, 2026
Becky Quick shares her personal journey as a mother of a child with a rare genetic disease. The challenges faced by families navigating the complexities of rare diseases are highlighted. Delve into the emotional impact of losing typical childhood milestones and the long diagnostic journey. Discover the unique biology of SYNGAP1, the personal triumphs of their daughter Kaylee, and the urgent need for awareness and funding in this arena. The discussion advocates for community action and highlights a new initiative aimed at supporting families affected by rare diseases.
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Collective Scale And Urgency
- Rare diseases are individually small but collectively affect roughly 30 million Americans, about 10% of the population.
- Technological advances (including AI) accelerate research but families still face urgent time pressures.
Early Signs And The 'Gray Year'
- Becky Quick and Matt Quayle describe noticing developmental delays in baby Kaylee and the slow path to answers.
- They recount doctor visits, vague reassurances, and the emotional 'gray year' before a diagnosis at nearly three.
Diagnosis: Finding A Name, Not Answers
- The Quayles received a genetic diagnosis of SYNGAP1 and felt both relief and devastation.
- They learned little from clinicians and found community and information through parent groups online.
