Spinal Muscular Atrophy (SMA): A Parent's Journey from First Signs to Diagnosis

Spinal Muscular Atrophy (SMA): A Parent's Journey from First Signs to Diagnosis

Author: Katie Taylor, Certified Child Life Specialist April 8, 2026 Duration: 39:39
Inside the Children's Hospital
KidsKids & FamilyFamilyFitnessHealthHealth & FitnessMedicineParenting

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.

 

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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

 

 


Hosted by Katie Taylor, a Certified Child Life Specialist, Inside the Children's Hospital is a quiet space for the often unspoken journey of pediatric illness. This podcast moves beyond the clinical to explore the human heart of the hospital, offering conversations that feel more like a shared cup of coffee in a waiting room than a formal interview. You'll hear directly from parents and caregivers who articulate the complex mix of fear, resilience, and love they experience, while pediatric nurses, doctors, and therapists provide their unique professional perspectives on fostering healing and normalcy. The discussions naturally delve into the practicalities of family life disrupted, the emotional weight carried by all involved, and the small, profound moments of hope that sustain people. It’s a resource for anyone connected to a child’s health challenge, whether you're a family member seeking solidarity, a friend looking to understand, or simply someone interested in the intersection of medicine and humanity. Each episode aims to validate the listener's own feelings, whether they are in the midst of a crisis or reflecting on one, by presenting these authentic narratives without sugarcoating yet always with profound compassion. Tune in to find a sense of community and a deeper appreciation for the delicate, powerful work happening within those walls.
Author: Language: English Episodes: 100

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