ADNP Syndrome: A Child Life Specialist's Journey to Diagnosis, Advocacy & Hope
When Caitlin noticed that her daughter, Kennedy, wasn't meeting developmental milestones, she trusted her instincts—even 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: • How to trust your instincts when something feels different about your child's development • What it was like receiving a rare disease diagnosis • Why finding the right medical providers matters • How parents can confidently advocate for their children during medical procedures • The importance of community for rare disease families • How Caitlin and her husband navigate the emotional challenges of parenting together • Why joy and grief can exist at the same time
Timestamps:
00:00 – Introduction 00:41 – Meet Caitlin 02:48 – Early developmental concerns 05:27 – The search for answers 07:24 – Receiving an ADNP syndrome diagnosis 10:05 – What is ADNP syndrome? 11:10 – Coping with the diagnosis 12:50 – Supporting your marriage through caregiving 14:50 – Advocating for your child in healthcare 15:27 – Preparing for medical procedures 17:52 – Parents are part of the care team 21:07 – Family planning after a rare diagnosis 24:09 – Welcoming a second child 27:16 – Joy and grief can coexist 29:20 – Caitlin's favorite part of being Kennedy's mom 30:59 – Resources for rare disease families 32:52 – Different Together Co. 34:35 – Hope, resilience, and final advice
Resources Mentioned: • National Organization for Rare Disorders (NORD): https://rarediseases.org [https://rarediseases.org/]• Different Together Co. [https://www.instagram.com/differenttogetherco/] (Caitlin's Instagram)
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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
