March 2026: Second Children’s Hospital Admission

I began noticing that Emma was coughing and choking more while nursing. Our occupational therapist was concerned that she might be aspirating. Fear crept in again—I worried this meant her low muscle tone was progressive and starting to affect her swallowing muscles. We reached out to our pediatrician, who admitted us to Children’s Hospital for a swallow study, as she was also concerned about aspiration.

Emma only took a small amount of fluid during the study, and it quickly became clear that she was indeed aspirating. Things escalated fast: she had a nasogastric tube placed with a plan to have a G-tube surgically inserted later that week. Her doctors allowed me to nurse her one last time before the initial feeding tube, and in that moment, I remember thinking, life is about to change—we were saying goodbye to a piece of normalcy.

With the G-tube in place, the aspiration issue was essentially resolved, but the question of why her low muscle tone was now affecting her swallowing remained. The comfort of thinking this was idiopathic hypotonia began slipping away, and I found myself grasping for any explanation other than progressive hypotonia. Neurology and genetics were consulted while we were in the hospital. They recommended an EMG to determine whether the problem was in her nerves, her muscles, or the way her nerves communicate with her muscles.

As a mom, I had a sinking feeling walking into that test with Emma. My anxiety was through the roof, and I just knew we weren’t going to hear good news. After the test, our neurologist confirmed my worst fear: the EMG revealed alpha motor neuron disease consistent with spinal muscular atrophy (SMA). I will never forget weeping with my husband, my sister-in-law, and our neuromuscular neurologist over our sweet baby girl. It was a punch to the gut after thinking SMA had been ruled out previously.

Immediately after the test, we had a case conference with all of Emma’s doctors. They were moving quickly, taking decisive action. Our neuromuscular neurologist ordered a starter pack of Evrysdi, a drug that stabilizes motor neurons and stops SMA progression. It was shipped to our doorstep from Kentucky just 12 hours after Emma’s EMG—a testament to her doctor’s dedication and persistence navigating insurance hoops. On March 14, 2026, just over four months old, Emma received her first dose of Evrysdi—a moment I will never forget.

Because of insurance requirements, genetic confirmation was needed to continue SMA treatment beyond the 30-day starter pack. Another wave of fear crept in. Emma had already had a negative newborn screen and negative whole genome sequence. What if her genetic testing didn’t confirm the diagnosis? Would she still be able to receive treatment, or would we face hundreds of thousands of dollars in costs? We prayed for genetic confirmation—the most uncomfortable prayer I’ve ever prayed. I never wanted my daughter to have SMA, but confirmation would open the door to treatment.

On March 26, 2026, our neuromuscular neurologist called with the news: Emma’s genetic testing confirmed SMA. After further conversations with her genetics team, we learned that Emma’s case is rare. Typically, healthy individuals have two SMN1 gene copies, and those with SMA usually have two deletions of the SMN1 gene. Emma, however, has one deletion and one mutation of SMN1—one inherited from me and one from Pug. This explains why she did not test positive on her newborn screen or whole genome sequencing; those tests look for two deletions. Emma does have one copy of the gene, but it does not function properly due to the mutation, causing her SMA.

We also learned that Emma has two copies of SMN2, the “backup” gene. This is relatively good news—she could have had fewer copies, but she could also have had more. SMN2 produces the same protein needed to keep motor neurons healthy, but at a much lower rate than SMN1. Evrysdi works by stimulating the SMN2 gene to act more like SMN1, producing more protein to protect Emma’s motor neurons.

Moving forward, we will continue Evrysdi, hoping that Emma will eventually be eligible for gene therapy. This one-time treatment introduces a functional copy of the SMN1 gene into her cells, allowing her body to produce the protein needed to keep motor neurons healthy and halt SMA progression. There are specific requirements for eligibility—her immune system and certain antibodies cannot be elevated, or her body might attack the treatment before it can work. Currently, her antibodies are elevated, so we are keeping her in a “bubble” to give her the best chance at success with gene therapy and, ultimately, in life.