Everyone often discusses the infamous “terrible twos,” yet few highlight how wonderful this stage can also be. My youngest daughter, Lily, is discovering her personality, attempting to brush her teeth and dress herself, and—most remarkably—she can now stand independently for up to 11 seconds. This is 11 seconds longer than we ever thought possible.
Lily has a rare genetic neuromuscular condition known as spinal muscular atrophy (SMA) Type 1, which she was diagnosed with just after her six-month birthday. However, our journey began long before that moment. From the very start, I have been fighting for her.
A Mother’s Intuition
A mother’s intuition is incredibly powerful. We can sense when something is wrong, recognize the signs behind our children’s cries, and even discover what sparks their laughter. When Lily was born, my instincts kicked in quickly. She wasn’t moving her legs, was rapidly losing strength, and eventually, her appetite diminished. When I expressed my worries to the doctors, they dismissed my concerns, labeling her a “lazy baby.” I confided in my mother, saying, “I know the doctors say she’s fine, but I feel like I’m losing my baby.”
Fortunately, a physical therapist advocated for further testing in Denver. She remained on the phone with the doctor until they agreed to see us the same day. I packed the car, secured Lily in her seat, and set off for the hospital. On the way, I felt a fleeting sense of relief—finally, I would get answers about Lily’s condition.
However, I wished my instincts hadn’t been validated.
The Diagnosis
A few hours later, a doctor entered our room, placing a hand on my shoulder. I knew this gesture meant I was about to hear devastating news. The doctor informed us of Lily’s SMA Type 1 diagnosis. As she shared details about the condition, I caught fragments of information: “we’re not an SMA hospital,” “there’s nothing we can offer,” and the most distressing (and later proved inaccurate): “there are no treatments available.” Overcome with fear, I trembled and became physically ill, but I knew I needed to remain strong for my daughter. I soon discovered that SMA is the primary genetic cause of infant mortality. If untreated, SMA Type 1—one of the most severe forms—could lead to the need for permanent ventilation, feeding support, or even death by a child’s second birthday.
Finding Hope
Shortly after her diagnosis, Lily was able to receive the only approved SMA treatment at that time. Exactly one year later, the U.S. Food and Drug Administration approved another treatment for SMA. After two months of relentless negotiations with our insurance, the day arrived for her dose. When Lily was in the hospital receiving the new treatment, I thought, “SMA hasn’t taken my baby away.”
This harrowing journey taught me not to accept information at face value. I knew my baby wasn’t well, and her physical therapist recognized it too. Trusting that gut feeling likely saved Lily’s life. If your child exhibits similar symptoms, please have them tested for this genetic condition. If the results are positive, know that while this news will alter your life, you are not alone. The SMA community is here to support you.
Lessons Learned
Looking back, if I had known about Lily’s SMA at birth, I would have fought for her to receive treatment as soon as possible. SMA is a progressive disease, and earlier interventions lead to better outcomes for children. Sadly, when Lily was born, SMA was not included in the newborn screening panel in Colorado. Thankfully, that has since changed, and newborns are now tested for SMA within hours of birth.
This August marked one year since Lily received her final SMA treatment, and I can proudly say that this spirited little toddler has far surpassed my expectations. She has taught me to cherish every milestone, no matter how insignificant. The first time she said “mama” while I was driving on the highway left me so astonished that I had to pull over, tears of joy streaming down my cheeks. For our family, “mama” signifies more than just a word; it means her tongue was moving, she could make sounds, and she was capable of swallowing. We never take those abilities for granted.
Gratitude and Advocacy
Motherhood is a unique gift, and I am grateful to be Lily’s mom, savoring all the little moments. For us, every second and every small step is a triumph. I will always advocate for her and the needs of the SMA community. While the journey has not been easy, it is ours.
If you’re seeking more information about SMA or wish to support those in your community, check out www.CureSMA.org. Also, for additional resources on pregnancy and home insemination, visit https://www.ccrmivf.com/category/blog/.
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Summary:
This heartfelt story shares the journey of a mother advocating for her daughter, Lily, who was diagnosed with spinal muscular atrophy (SMA) Type 1. Despite initial dismissal from doctors, a physical therapist’s recommendation led to life-saving treatment. The mother emphasizes the importance of trusting one’s instincts and highlights the significance of early intervention in SMA. Celebrating every small milestone, she expresses gratitude for motherhood and encourages others facing similar challenges.