When people discuss the challenges of early childhood, they often mention the “terrible twos.” However, not everyone recognizes the incredible moments that can occur during this time. My youngest daughter, Lily, is blossoming into her own unique personality. She’s taking steps towards independence, trying to dress herself, and—most notably—standing on her own for an impressive 11 seconds, a feat we once thought was out of reach.
Lily has been diagnosed with a rare genetic neuromuscular disorder known as spinal muscular atrophy (SMA) Type 1. This diagnosis came shortly after her six-month birthday, but the signs of her condition began long before that. From the very beginning, I have been her fiercest advocate.
As a mother, my instincts are keen. I can sense when something isn’t right, whether it’s a fever that surpasses normal teething or a crying spell that hints at deeper issues. When Lily was born, I quickly noticed she wasn’t moving her legs as expected and was losing strength at an alarming rate. Eventually, she stopped wanting to eat altogether. When I voiced my concerns to the doctors, they brushed me off, suggesting Lily was just a “lazy baby” and downplaying my worries about her appetite. I remember confiding in a friend, “The doctors say she’s fine, but I feel like I’m losing my baby.”
Fortunately, Lily’s physical therapist recommended taking her to a specialist in Denver for further testing. She stayed on the line with the doctor until they agreed to see us that very day. I packed up the car, secured Lily in her car seat, and headed to the hospital. For a brief moment, I felt a sense of relief; finally, I would find out what was truly going on with Lily.
However, I wished my instincts had been wrong. A few hours later, a doctor entered the room and gently placed a hand on my shoulder—a universal sign of bad news. I braced myself as he delivered the diagnosis: Lily had SMA Type 1. His words blurred together, but I caught phrases like, “there’s nothing we can do” and “there are no treatments available.” I felt a wave of nausea wash over me, but I knew I had to remain strong for my daughter. I learned that SMA is the leading genetic cause of infant mortality, and without treatment, it could lead to permanent ventilation or worse by her second birthday.
Shortly after her diagnosis, Lily was able to receive the only treatment approved for SMA at the time. Exactly a year after our first trip to Denver, another therapy received FDA approval, and after two months of back-and-forth with our insurance, we finally got to her treatment day. As I watched her in the hospital, I thought to myself, “SMA hasn’t taken my baby away.”
This experience has taught me the importance of perseverance and the need to question what we are told. I knew deep down that something was wrong, and so did Lily’s physical therapist, who has been a critical part of our journey. If you see any similar symptoms in your child, please pursue testing for this genetic condition. If the results are positive, know that you are not alone—the SMA community will be there to support you.
If I had known about Lily’s SMA at birth rather than six months later, I would have fought for immediate treatment. Earlier intervention can lead to significantly better outcomes in children with SMA. Thankfully, Colorado now screens newborns for SMA within the first hours of life, a change that could save many families heartache.
This August marked the one-year anniversary of Lily’s final SMA treatment, and I can proudly say that this spirited little girl has surpassed all my expectations. She has taught me to cherish every little milestone. When she first said “mama” while I was driving, I was so astonished that I had to pull over to collect myself, tears of joy streaming down my face. For us, “mama” means not just a word, but a sign of progress—it signifies movement of her tongue, the ability to vocalize, and the capacity to swallow.
Motherhood is a precious gift, and I’m grateful to be Lily’s mom, relishing in all the small moments. Each second and every tiny step is a triumph. I will always be her advocate and voice, tirelessly fighting for her and the SMA community. Our journey has been challenging, yet it is uniquely ours.
For those looking for further information about SMA or how to assist in your community, visit www.CureSMA.org. If you’re interested in learning more about home insemination, check out this informative blog post. For high-quality products, Make A Mom is an excellent source. Additionally, for support and resources related to pregnancy and fertility issues, Drugs.com is a great place to look.
Potential Search Queries:
- What is spinal muscular atrophy (SMA)?
- Early signs of SMA in infants.
- How to advocate for your child’s health.
- Treatment options for SMA Type 1.
- Resources for families dealing with genetic disorders.
In summary, our experience with Lily’s SMA diagnosis has been filled with challenges, but it has also shown us the strength of advocacy, the importance of early intervention, and the joy in every small victory.
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