A Short Life with Tay-Sachs & Advocating for Preconceptual Carrier Screening

Shannon's son James was a little slower than most babies to meet his developmental milestones, but it wasn't until after his first seizures that he was finally diagnosed with Tay-Sachs—a rare, inherited, autosomal recessive condition that progressively destroys nerve cells in the brain and spinal cord. Shannon and her husband had a total of just 27 months with James. She shares how she learned to live in the moment and appreciate the time she had with him, and how her experience has made her an advocate for offering patients expanded carrier screening—ideally before pregnancy.