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

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