Episode #13 "Rare Disease, Big Impact: How One Mom Is Creating Change"

In this heartfelt episode, we explore the transformative journey of parenting through the lens of one mother’s extraordinary experience. Our dear friend Jennifer Sills candidly shares the challenges and triumphs of raising two children with unique needs: Juliet, who has Okur-Chung Neurodevelopmental Syndrome, a rare genetic condition, and Jasper, who was later diagnosed with dyslexia.Jen opens up about the emotional and logistical complexities of navigating diagnoses, advocating for her children, and building a global community through her nonprofit foundation. From the intensive early interventions for Juliet to the moment of relief and clarity brought by a diagnosis, this episode sheds light on the resilience, determination, and hope that define her story.We also delve into how Jen’s journey with Juliet prepared her for supporting Jasper’s path, and the vital importance of community, genetic testing, and accessible care. Whether you're a parent, educator, or advocate, this episode is a powerful reminder of the strength in seeking answers, supporting others, and never giving up on making a difference.Through candid conversations, we explore how to manage overwhelming situations, honor the tough moments, and find strength in vulnerability. With a focus on resilience, self-compassion, and staying connected to your true self, we discuss how to face the difficulties of life without losing sight of the wins—no matter how small.Tune in to hear Jen’s inspiring story and learn how her family is driving change in the world of rare diseases and learning differences.If you found this podcast to be helpful, enlightening or just relatable please consider writing a positive review on your favorite podcast app and please don't forget to subscribe.If you'd like to be added to our  monthly newsletter where we discuss a variety of topics from pelvic floor health, to parenting neuro-divergent  and so much more visit here to sign up.  https://replenishing-soul.newzenler.com/Follow us on IG  https://www.instagram.com/replenishing_soul/Thank you for your interest!Show notes:CSNK2A1 Foundation:  https://www.csnk2a1foundation.org/Okur-Chung Neurodevelopmental Syndrome:  https://rarediseases.org/rare-diseases/okur-chung-neurodevelopmental-syndrome/Probably Genetic:  https://www.probablygenetic.com/Once Upon A Gene:  https://effieparks.com/Once Upon A Gene Podcast:  True Stories of Raising Rare Kiddoshttps://effieparks.com/podcastDisclaimer:The information shared on this podcast is for informational purposes only and is based on the opinions and experience of Lori Dorothy and their guests. The content should not be used as a substitute for professional medical advice, diagnosis or a treatment. Always seek the advice of your healthcare provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you heard on this podcast