Everyone often talks about the challenges of the terrible twos, but not enough people highlight the joys that come along with this age. My youngest daughter, Lily, is blossoming into her unique self, attempting to brush her teeth and dress herself. Most importantly, she is now able to stand unsupported for up to 11 seconds—a feat we never thought possible.
Lily was diagnosed with spinal muscular atrophy (SMA) Type 1 shortly after her six-month birthday, although the signs of our journey began much earlier. From the very beginning, I found myself in a constant battle for her well-being.
A mother’s instinct is incredibly powerful. We can tell when a fever is more than just a phase, what lies behind a crying fit, and even how to coax a fit of giggles. From the moment Lily was born, I sensed something was off. She wasn’t moving her legs, was losing strength rapidly, and eventually lost interest in eating. When I shared my concerns with doctors, their responses were dismissive. They labeled her a “lazy baby” and brushed away my worries about her appetite. I confided in my mother, saying, “I know the doctors say she’s fine, but I feel like I’m losing my baby.”
In a fortunate turn of events, Lily’s physical therapist urged us to seek further testing in Denver. She stayed on the line with the doctor until they agreed to see us on the same day. I packed up the car, secured Lily in her car seat, and headed to the hospital. As we drove, I felt a fleeting sense of relief—finally, I would get the answers I desperately sought.
Little did I know, I was about to receive devastating news.
Hours later, a doctor entered the room and placed a hand on my shoulder, signaling that the news would not be good. I was right; she informed us that Lily had SMA Type 1. As the doctor spoke about the condition, I focused on alarming phrases like, “we’re not an SMA facility,” “there’s nothing we can do,” and the most heart-wrenching claim: “there are no available treatments.” Overwhelmed with fear, I shook uncontrollably and even got sick in the hospital, but I knew I needed to stay strong for my daughter. I soon learned that untreated SMA is the leading genetic cause of infant mortality, and without intervention, it could lead to severe complications or even death by her second birthday.
Thankfully, shortly after her diagnosis, Lily was able to receive the sole approved SMA treatment at the time. Exactly one year later, another treatment was greenlit by the U.S. Food and Drug Administration. After two months of battling with our insurance company, we finally reached the day of her new treatment. While Lily was in the hospital receiving it, I thought, “SMA didn’t take my baby away.”
One crucial lesson from this challenging experience is to trust your instincts. I knew something was wrong with my baby; her therapist did too. Acting on that intuition likely saved her life. If you notice similar symptoms in your child, please seek testing for this genetic disorder. If the results come back positive, remember that while this news will change your life, you are not alone. The SMA community is there to support you.
If I had known Lily had SMA at birth instead of six months later, I would have fought harder for her to receive treatment sooner. SMA is progressive, and early intervention leads to better outcomes. Unfortunately, when Lily was born, SMA wasn’t part of the newborn screening in Colorado, but that has since changed, and now newborns are screened for SMA shortly after birth.
This past August marked one year since Lily received her final SMA treatment, and I can honestly say she has far surpassed my expectations. She has taught me to rejoice in every achievement, no matter how small. When she said “mama” for the first time while I was driving, I was so taken aback that I had to pull over, tears of joy streaming down my face. For us, “mama” signifies more than just a word; it meant her tongue was moving, she was making sounds, and she could swallow. We cherish every one of those milestones.
Motherhood is a beautiful gift, and I feel fortunate to be Lily’s mom, savoring all the little moments. For us, every second and every small victory is monumental. I will relentlessly advocate for her needs and for the SMA community. Our journey hasn’t been easy, but it’s uniquely ours.
For more information on SMA and ways to support your community, check out this post on home insemination kit and this resource on pregnancy week-by-week, which is an excellent guide for new parents. If you’re looking for authoritative information on insemination, visit Make a Mom.