In this episode of It Happened To Me, we share a story of love, loss, and advocacy in the rare disease community.

We are joined by Jordan Kruse, whose son, Pruitt, was born with ornithine transcarbamylase (OTC) deficiency, and Dr. Susan Berry, a geneticist at M Health Fairview and professor at the University of Minnesota Medical School, who specializes in rare metabolic disorders like OTC deficiency and helped Pruitt.

OTC deficiency is a rare urea cycle disorder (UCD) that prevents the body from properly removing ammonia from the blood. This dangerous buildup can cause severe complications, and in Pruitt’s case, tragically ended his life at only six months old.

Through her grief, Jordan founded The Brave Little One Foundation, honoring Pruitt’s legacy by supporting families facing medical hardship and raising awareness about rare genetic conditions. Together, she and Dr. Berry shed light on:

• What OTC deficiency is and how it affects the body
• Why newborn screening doesn’t always catch the condition
• The role of geneticists and medications in diagnosing and managing OTC deficiency
• Jordan’s experience advocating for Pruitt’s care in a complex medical system
• The importance of foundations and rare disease organizations in offering resources and hope
• What families and healthcare providers need to know about navigating rare disease diagnoses

Resources:

• The Brave Little One Foundation
• National Urea Cycle Disorders Foundation (NUCDF)
• The Rare Diseases Clinical Research Network (RDCRN Consortia)
• The Future of Personalized Medicine is Here: Baby KJ received a first-of-its-kind personalized gene editing therapy at CHOP to treat his urea cycle disorder
• Ornithine transcarbamylase deficiency explained by MedlinePlus

Stay tuned for the next new episode of “It Happened To Me”! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.

“It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today’s Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.

See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to [email protected].