{"version":1,"type":"rich","provider_name":"Libsyn","provider_url":"https:\/\/www.libsyn.com","height":90,"width":600,"title":"ADNP Syndrome: A Child Life Specialist's Journey to Diagnosis, Advocacy & Hope","description":"When Caitlin noticed that her daughter, Kennedy, wasn't meeting developmental milestones, she trusted her instincts\u2014even when others reassured her that everything was fine. As both a former Child Life Specialist and mom of a child with ADNP syndrome, Caitlin shares her family's journey from early concerns and endless appointments to receiving a diagnosis for a condition so rare that only about 500 cases have been identified worldwide. In this conversation, Caitlin opens up about navigating uncertainty, advocating for her daughter in healthcare settings, finding support through rare disease communities, and balancing the joy and grief that often coexist when parenting a child with complex medical needs. Whether you're a parent searching for answers, raising a child with a diagnosis, or supporting families through difficult seasons, Caitlin's story is filled with practical wisdom, encouragement, and hope. In this episode, you'll learn: \u2022 How to trust your instincts when something feels different about your child's development \u2022 What it was like receiving a rare disease diagnosis \u2022 Why finding the right medical providers matters \u2022 How parents can confidently advocate for their children during medical procedures \u2022 The importance of community for rare disease families \u2022 How Caitlin and her husband navigate the emotional challenges of parenting together \u2022 Why joy and grief can exist at the same time Timestamps: 00:00 \u2013 Introduction 00:41 \u2013 Meet Caitlin 02:48 \u2013 Early developmental concerns 05:27 \u2013 The search for answers 07:24 \u2013 Receiving an ADNP syndrome diagnosis 10:05 \u2013 What is ADNP syndrome? 11:10 \u2013 Coping with the diagnosis 12:50 \u2013 Supporting your marriage through caregiving 14:50 \u2013 Advocating for your child in healthcare 15:27 \u2013 Preparing for medical procedures 17:52 \u2013 Parents are part of the care team 21:07 \u2013 Family planning after a rare diagnosis 24:09 \u2013 Welcoming a second child 27:16 \u2013 Joy and grief can coexist 29:20 \u2013 Caitlin's favorite part of being Kennedy's mom 30:59 \u2013 Resources for rare disease families 32:52 \u2013 Different Together Co. 34:35 \u2013 Hope, resilience, and final advice   Resources Mentioned: \u2022 National Organization for Rare Disorders (NORD): https:\/\/rarediseases.org\u2022 Different Together Co. (Caitlin's Instagram) Connect with Us Instagram: @childlifeoncall + @insidethechildrenshospital Subscribe: Never miss an episode on Apple Podcasts or Spotify. Visit insidethechildrenshospital.com to search stories and episodes easily Leave a Review: It helps other families find us and access our resources   Medical information shared in this episode is not a substitute for professional medical advice. Please consult your care team for guidance specific to your child and family.   Keywords: ADNP syndrome, ADNP Syndrome diagnosis, rare disease, rare genetic disorder, rare disease awareness, developmental delays, child development, developmental milestones, autism, autism spectrum disorder, hypotonia, genetic testing, pediatric neurology, medical parenting, parenting a medically complex child, special needs parenting, child life specialist, child life, patient advocacy, parent advocacy, healthcare advocacy, medical procedures, hospital coping, pediatric healthcare, VCUG, medical trauma, parenting after diagnosis, genetic counseling, early intervention, physical therapy, rare disease community, disability inclusion, family support, caregiver support, chronic illness parenting, special needs family, navigating a rare diagnosis, trusting your instincts, medical journey, pediatric diagnosis ","author_name":"Inside the Children's Hospital | Parent Stories, Pediatric Healthcare & What Families Want You to Know","author_url":"http:\/\/insidethechildrenshospital.com","html":"