“You’re Still a Person; You Still Have Feelings” – Gwyn is Living with Achondroplasia

At 27, Gwyn is a college student pursuing a career as a dietitian and the host of A Little View, a podcast that creates space for candid conversations within the dwarfism community and beyond. Her interests are deeply informed by her own experiences growing up with achondroplasia, including challenges with body image, an eating disorder, and feeling misunderstood by healthcare providers. In this episode of On Rare, David Rintell, Head of Patient Advocacy at BridgeBio, and Mandy Rohrig, Vice President of Patient Advocacy at BridgeBio, speak with Gwyn about learning to embrace her condition, finding strength and connection through community, and turning some of her most difficult experiences into opportunities to help others. She reflects on the importance of shared experience, speaking openly about difficult topics, and supporting people in making the choices that are right for them. Michelle Norton, Senior Director of Clinical Science at BridgeBio Skeletal Dysplasia, provides a medical overview of achondroplasia. Achondroplasia is a rare genetic condition that affects bone growth and is the most common cause of disproportionate short stature skeletal dysplasia. It is caused by a genetic change in the FGFR3 gene, which regulates bone growth, and approximately 80% of people with achondroplasia are born to average-stature parents as the result of a spontaneous genetic change. Michelle also explains that achondroplasia is about more than height, as people may experience complications including sleep apnea, frequent ear infections, and orthopedic and spinal issues, while emphasizing that each person’s experience with the condition is unique.