While many discuss the challenges of the “terrible twos,” few acknowledge the incredible moments that accompany this stage. My youngest daughter, Lily, is blossoming into her unique self—learning to brush her teeth, dressing herself, and most notably, standing independently for up to 11 seconds. That’s 11 seconds more than we ever thought possible.
Lily has a rare genetic neuromuscular condition known as spinal muscular atrophy (SMA) Type 1, which we learned about just after her six-month birthday. However, our journey began long before that day, as I found myself advocating for her from the start.
Trusting My Instincts
As a mother, my intuition is strong. I can tell when a fever is more than just a minor ailment, and I can sense when something is off. After Lily was born, I quickly noticed she wasn’t moving her legs, her strength was diminishing rapidly, and she eventually lost interest in eating. When I expressed my concerns to healthcare providers, they dismissed my worries, attributing her behavior to laziness. I remember confiding in my mother, “The doctors say she’s fine, but I can feel I’m losing my baby.”
Fortunately, Lily’s physical therapist urged us to seek additional medical opinions in Denver. She stayed on the line with the doctor until they agreed to see us that same day. I packed the car, secured Lily in her car seat, and we set off for the hospital. I felt a fleeting sense of relief as we drove; I was finally on the path to understanding Lily’s condition.
Yet, I wish my intuition hadn’t been validated.
The Diagnosis
A few hours later, a doctor entered the room and placed a hand on my shoulder—a gesture that signaled bad news. My fears were confirmed: Lily had SMA Type 1. As the doctor detailed the condition, I caught only fragments: “not an SMA facility,” “no treatments available,” and “leading genetic cause of infant mortality.” I was overwhelmed with fear, trembling and even getting sick in the hospital, but I knew I had to remain strong for my daughter. I learned that untreated SMA Type 1 can lead to severe complications or death by the age of two.
Finding Hope
Shortly after her diagnosis, Lily was able to access the only approved SMA treatment available at that time. Exactly one year later, another treatment option was approved by the U.S. Food and Drug Administration. After months of negotiating with our insurance, we finally arrived at her treatment day. In the hospital, I remember feeling a surge of hope—“SMA didn’t take my baby away.”
One of the most important lessons I learned from this challenging journey is to trust your instincts. I knew Lily wasn’t okay, and thankfully, her physical therapist agreed. Acting on that intuition potentially saved her life. If you notice similar symptoms in your child, please consider testing for this genetic condition. If the results are positive, know that while this news can be life-altering, you are not alone; the SMA community is here to support you.
Early Intervention Matters
In hindsight, if I had known about Lily’s SMA at birth, I would have fought harder for early treatment. SMA is a progressive disease, and early intervention can lead to significantly better outcomes. Fortunately, newborns in Colorado are now screened for SMA within hours of birth, a positive change since Lily’s birth.
Celebrating Milestones
This past August marked one year since Lily received her final SMA treatment, and I can confidently say this spirited little girl has far exceeded my expectations. She has taught me to cherish every single milestone, no matter how small. When she called “momma” for the first time while we were driving, I was so overwhelmed with joy that I had to pull over to collect myself. For our family, “momma” isn’t just a word; it signifies that her tongue is moving, she can make sounds, and she can swallow. We never take these abilities for granted.
Motherhood is a precious gift, and I feel fortunate to be Lily’s mom, embracing every small moment. For us, every second and every step is a victory. I will always advocate for her and the SMA community. While our journey has been challenging, it is uniquely ours.
Resources and Support
If you’re looking for further information about SMA or ways to assist those in your community, consider visiting resources like the CDC, which offers excellent information on pregnancy and home insemination, or other helpful links like this post.
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- What is spinal muscular atrophy?
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In summary, this heartfelt narrative showcases the journey of a mother and her daughter facing the challenges of a rare genetic condition. It emphasizes the importance of maternal intuition, early intervention, and the love and resilience that define their relationship.