#388 From Medical Mystery to Gene Therapy: One Family’s Sialidosis Journey

About this episode

This episode explores the personal journey of siblings living with sialidosis and the advancements in gene therapy research.

What happens when a rare, devastating genetic condition impacts not just one person in a family, but three siblings? In this episode of DNA Today, we’re joined by siblings Faith Sinclair and Dan Peach who both have sialidosis. Sialidosis is a rare lysosomal storage disorder that often leaves families searching for answers for years. Faith and Dan share their deeply personal journey with the condition, from the initial struggles of seeking a diagnosis for their brother, Antonn, to the cutting-edge gene therapy research currently underway. Inside This Episode: The Diagnostic Odyssey Faith and Dan share the emotional impact of living with Sialidosis and the long road to a definitive diagnosis. We explore the uncertainty that many rare disease families face and how receiving an answer after years of "red flags" reshaped their lives. Understanding Sialidosis (The Science) We break down the clinical and cellular mechanics of Sialidosis. We discuss: The role of the NEU1 gene and how mutations lead to cellular dysfunction. The two primary forms of the condition (Type I and Type II) and their clinical presentations. Why Sialidosis is frequently misdiagnosed or overlooked by clinicians…

People in this episode

Host: Kira Dineen

Guests: Faith Sinclair, Dan Peach

Topics covered

• sialidosis
• gene therapy
• rare diseases
• diagnosis journey
• patient advocacy

Keywords

• sialidosis
• gene therapy
• lysosomal storage disorder
• diagnostic odyssey
• rare genetic condition

Mentioned in this episode

Organizations: Cure Sialidosis

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