When people discuss the challenging phase of toddlerhood, they often overlook the wonderful moments that accompany it. My youngest daughter, Lily, is blossoming into her unique self—mastering tasks like brushing her teeth and getting dressed, and most importantly, she’s learned to stand unaided for an incredible 11 seconds. That’s 11 seconds longer than we ever thought possible.
Lily has been diagnosed with a rare genetic neuromuscular condition known as spinal muscular atrophy (SMA) Type 1. We received this diagnosis shortly after her six-month birthday, but looking back, our journey began much earlier. From the outset, I’ve been her fiercest advocate.
A mother’s instinct is powerful. We can sense when a fever is more than just a sign of teething, or when a crying episode might have deeper roots. From the moment Lily was born, my intuition told me something was amiss. She wasn’t moving her legs, was losing strength quickly, and eventually lost her interest in eating. When I voiced my concerns to her doctors, they dismissed me, attributing her symptoms to laziness. I remember telling my mother, “The doctors say she’s fine, but I feel like I’m losing my baby.”
Fortunately, Lily’s physical therapist believed me and urged us to seek further testing in Denver. She stayed on the phone with the specialists until they agreed to see us that same day. I loaded up the car, strapped Lily in her seat, and headed to the hospital, feeling a mix of relief and dread. I was finally seeking answers about Lily’s health, but I was terrified of what those answers might be.
Hours later, a doctor entered the room and placed a hand on my shoulder. I knew this gesture signaled bad news. My instincts were right—Lily was diagnosed with SMA Type 1. As the doctor spoke about the condition, I could only grasp fragmented phrases like, “we’re not an SMA hospital,” “there’s nothing we can do,” and the most heartbreaking statement: “there are no treatments available.” Overwhelmed with fear, I trembled and even got sick in the hospital, yet I knew I needed to remain strong for my little girl. I discovered that SMA is a leading genetic cause of infant mortality, and that untreated SMA Type 1 could lead to severe complications or death by the age of two.
Fortunately, after her diagnosis, Lily was able to receive the only approved SMA treatment at that time. Exactly one year after our initial visit to Denver, a new treatment was approved by the FDA. After navigating two months of insurance hurdles, we finally arrived at her treatment day. As I watched Lily receive her new medication, I felt a surge of hope; SMA hadn’t taken my baby away.
One significant lesson I learned during this ordeal is to trust my instincts. I knew Lily wasn’t okay, and so did her physical therapist, who has been instrumental in our SMA journey. If you notice similar symptoms in your child, please consider getting them tested for this genetic disorder. If the results are positive, understand that while this news will change your life, you are not alone. The SMA community is here to support you.
Had I known about Lily’s SMA at birth rather than six months later, I would have pushed for immediate treatment. Early intervention is crucial for better outcomes in children with SMA. Thankfully, newborn screening for SMA has since been instituted in Colorado, which means new parents can have their babies tested right after birth.
This past August marked the one-year anniversary of Lily receiving her final SMA treatment, and I can confidently say that this spirited little girl has surpassed all my expectations. She has taught me to celebrate every achievement, no matter how small. When she said “mama” for the first time while we were driving, I was so overwhelmed that I had to pull over to cry happy tears. For us, “mama” signifies so much more than a word; it indicates that her tongue is moving, she can make sounds, and she’s able to swallow. We cherish these milestones.
Being a mother is a unique gift, and I feel fortunate to be Lily’s mom, appreciating all the little moments. For us, each second and every small step forward is a triumph. I will always advocate for her and the needs of the SMA community. Our journey hasn’t been easy, but it’s uniquely ours.
For more information about SMA or to get involved in your community, check out CureSMA.org.
Search Queries:
- What is spinal muscular atrophy?
- How to advocate for a child with SMA?
- What are the symptoms of SMA Type 1?
- Early treatment options for spinal muscular atrophy?
- Resources for families affected by SMA.
In summary, my daughter Lily’s battle with SMA has been a transformative experience for our family. Through advocacy, early intervention, and community support, we’ve learned to cherish every moment and celebrate each milestone on this challenging yet rewarding journey.