112: Abby’s Story | Skeletal Dysplasia, a Prenatal Diagnosis with Grim Hopes of Survival, + Ditching the Bubble Wrap

For the first part of Abby’s pregnancy with her son Jackson, everything was perfectly uneventful. But at her twenty-week ultrasound, her medical team discovered some unusual markers. This appointment set off a chain of visits, tests, and specialists that eventually ended in a diagnosis of a rare and life-threatening form of skeletal dysplasia called osteogenesis imperfecta. In this episode, Abby and her family were thrown into the world of medically complex caregiving and advocacy, which sometimes included teaching other nurses and medical professionals how to care for their son. Abby tells us how, in the years since his birth, she has continued to advocate while also accepting that she can’t protect her son from every single injury and illness, but she can offer him new experiences, intense love, and a joyful life. I can’t tell you just how much I love this story, and I can’t wait to share it with you. Links: Learn more about the sponsor Moog Medical’s Infinity Feeding Pump and their customer panel. Listen to Ep. 82 which covers Kimberly’s experience with osteogenesis imperfecta. Follow Abby on Instagram. Follow me on Instagram! Donate to the podcast via Buy Me a Coffee. Contact me about sponsoring the podcast. Follow the Facebook page. Join the Facebook group Parents of Children with Rare Conditions. Access the transcript and download the research articles Hilarie cited on the website here. And if you love this podcast, please leave us a rating or review in your favorite podcast app!