Spinal Muscular Atrophy (SMA): A Parent's Journey from First Signs to Diagnosis
Inside the Children's HospitalShow Notes
What happens when your instincts tell you something is wrong—but you're dismissed again and again? For many parents, the journey to a diagnosis begins with a gut feeling—and the courage to persist in seeking answers. This week, Katie sits down with Nikki McIntosh, author and advocate, to share the story of her son Miles, who was diagnosed with spinal muscular atrophy (SMA) at just 18 months old. After noticing delays in his ability to stand and bear weight, Nikki followed her instincts despite initial dismissal—ultimately leading to a life-changing diagnosis. Nikki shares what those early days looked like—from navigating testing and procedures to receiving the diagnosis that changed everything. She opens up about the grief, fear, and urgency that followed, and how she quickly stepped into the role of advocate, building a care team and learning how to navigate complex medical systems in real time.. If you've ever questioned your instincts or felt lost navigating a diagnosis, this conversation offers validation, practical guidance, and hope. This episode is sponsored by Gebauer PainEase®. We extend our sincere gratitude to Gebauer PainEase® for supporting this episode. To learn more about this product, visit their website.
Resources & Ways to Connect Visit Nikki's Website
Find her book wherever books are sold (Amazon, Barnes & Noble, Target, and more)
Helpful Resources Mentioned National Organization for Rare Disorders (NORD)
Global Genes
Cure SMA (patient advocacy organization)
Connect with Us Subscribe: Never miss an episode on Apple Podcasts or Spotify.
Visit insidethechildrenshospital.com to search stories and episodes easily
Follow us on Instagram for updates and opportunities to connect with other parents
Download SupportSpot: receive Child Life tools at your fingertips.
Leave a Review: It helps other families find us and access our resources!
Medical information provided is not a substitute for professional advice—please consult your care team. Keywords: spinal muscular atrophy, SMA child story, rare disease diagnosis child, delayed milestones baby, parenting medically complex child, rare disease advocacy, navigating pediatric diagnosis, EMG test child, pediatric neuromuscular disease, child life coping tools, supporting child through medical tests, rare disease parent support, medical parent journey, hope after diagnosis
More from Inside the Children's Hospital
In today's episode, we sat down with Kristen Cowan, a teacher, and mom of Rylen and Corbin. In 2017, Rylen was only 13 months old when he woke up with a fever that turned out to be bacterial meningitis. Rylen was in the hospital for about 9 days before he unfortunately passed away from the illness. Kristen shares her journey of being in the hospital with Rylen, and how she was able to provide a new hope for other families through organ donation. Throughout the episode, Kristen unpacks how she is able to cope with the loss of Rylen by creating a legacy through the Smilin' Rylen Foundation. The foundation was made to honor Rylen by raising awareness about organ donation and assisting families in crisis by offering to pay for hospital parking passes.
For this week's episode, Katie is talking with fellow child-life specialist, Annie "Sunshine" Gunning. For 25 years, Annie has helped adapt typical playtime into something that everyone with different needs, such as children who are nonverbal or wheelchair bound, can enjoy. Annie gives us insight into how playing through medical experiences like going to a therapy appointment is important for children to understand the world around them. Similarly, Annie leads us into the hospital setting, detailing how play inside the hospital can create positive environments for children, especially for children who are staying for a longer period of time.
During this week's episode, Katie sits down with Ryan Solieau, an LSU Alum, and dad to a Henry who was diagnosed with Aplastic Anemia. Aplastic Anemia is a rare blood disorder where bone marrow stops making new red blood cells, which appeared in Henry as a heart rate of 250. Ryan takes us through the experience of learning a new reality during all phases of Henry's diagnoses, from learning how to navigate Henry's initial hospital stay, all the way to supporting Henry emotionally during his monthly transfusions. In the episode, we also learn from Ryan how crucial it is to take care of oneself in order to be the best advocate for Henry.
Pediatric nurse and mom Brigid shares how her family navigated her son's neuroblastoma diagnosis—with practical guidance on preparing kids for care, accepting support, and finding hope. Key Topics: The symptoms that led to Brigid's son's neuroblastoma diagnosis
As we begin to close out NICU Awareness Month, Katie sits down with Matilda "Tilly" Aldridge, a content marketer and mom. During a normal morning, Adelaide, her oldest child, was rushed to the hospital after Tilly and her husband heard Adelaide screaming from her room. She was given a CT scan, and a large tumor was found in her brain. Tilly recounts her experience not only dealing with the sudden occurrence of Adelaide's medical emergency, but also how Adelaide herself was able to overcome the trauma she suffered. Together, Tilly and Katie dig into what advocating for answers can entail, and finding joy in the aftermath. Timestamps 1:40 - Introduction to Tilly's Journey 4:28 - Navigating Parenthood During COVID 7:21 - Impact of Postpartum Depression 10:41 - Life-Altering Medical Emergency 13:18 - Understanding AVIM 16:10 - The Road to Recovery 22:13 - Managing Anxiety in Children 25:17 - Empowering Children Through Choices 32:04 - The Impact of Medical Trauma 37:00 - The Search for Answers 43:57 - The Fight for Medical Attention 49:07 - The Joys of Motherhood Post-Trauma Resources What is AVM What is AVF Medical information shared in this episode is not a substitute for professional medical advice. Please consult your healthcare team for guidance specific to your child and family.