Our SMA assignment was brief, but I’m encouraged to keep writing about it

Baby Jeffrey joined our family in mid-May 1997. Besides his abdominal breathing, alarming only my husband, Randy, he was perfect.

Eight weeks later, my physician brother examined Jeffrey. Paul’s typically calming demeanor turned eerily somber after he found a dull-sounding lung and no reflexes. He felt confident our pediatrician would recommend a neurological consultation.

As a former teacher of children with multiple disabilities, I didn’t panic — until late that night. My heart pounded as I jotted down observations about Jeffrey that should have alerted me sooner: a weak cry and cough, falling asleep after nursing briefly, minimal movement, and more.

The untimely death of one of our dogs a week before had sparked a conversation about death and heaven with our older children, Matthew and Katie. I pondered the sickening possibility that perhaps that incident had served as a rehearsal for something bigger. Suddenly, I could hardly breathe.

On July 14, our family was catapulted into the world of spinal muscular atrophy (SMA).

Devastating SMA prognosis, brief SMA assignment

The pediatric neurologist diagnosed Jeffrey with a severe case of the deadliest form of SMA: type 1. After explaining that all the muscles would eventually stop functioning, the neurologist segued into the prognosis, explaining that most children with type 1 didn’t make it to age 4. Most children with type 1 simply “go to sleep,” he continued. I heard the words, but couldn’t believe they applied to Jeffrey.

The doctor had nothing to share in the way of treatment. None existed. If there was any glimmer of compassion, I missed it.

With no threat to its destructive nature, SMA didn’t fool around. Less than four months after the diagnosis, Jeffrey snagged his heavenly ticket.

An invitation to write — but what?

In the spring of 2019, I received an invitation to write a column about SMA type 1 for SMA News Today. I was flattered someone thought I could contribute and ecstatic about sharing Jeffrey’s story! I’d written a book years before about our brief assignment, but the column would surely reach more people. Giddy when I submitted the trial column, I was giddier when it was approved. I’d “known” some of my new colleagues with SMA since they were children!

But wait. Our stint with SMA ended mere weeks after the diagnosis. Additionally, our assignment came in 1997, when there was nothing hopeful about defusing the genetic killer. It was late 2016 when Spinraza (nusinersen), the first treatment for SMA, had been approved, igniting the SMA community with enthusiasm and optimism. We’d had to manufacture those ourselves. I had no firsthand experience with any treatment.

What could I write about? I fully expect Jeffrey’s impact to endure, but our SMA “expertise” exists in the past tense. Would memories, blessings, gratitude despite the unthinkable, and relating SMA to other aspects of life be enough?

A few of the indelible memories

Our SMA assignment ended almost 29 years ago. Haunting memories still trigger weepy eyes and a racing heart.

After the neurologist blindsided us with the unfathomable prognosis, the grueling procedures to confirm SMA commenced. With Jeffrey positioned on a board, his arms strapped above his head, the chest X-ray set off his first-ever wails. Nurses drew blood for the new SMA test from his forehead; wailing more, Jeffrey’s face turned ashen, then ghostly white. The electromyogram to determine muscle activity was even more excruciating. Mercifully, it was the final torture. Both Jeffrey and I were spent in more ways than one.

The most traumatic memory remains the aftermath of a pulmonologist’s questionable decision. We’d sought his opinion regarding possible benefits of (experimental) gabapentin and BiPAP, but he insisted on trying the in-exsufflator first. I quickly mentioned I’d read about its benefits for children old enough to cough on command and follow directions; surely he’d noticed Jeffrey was a baby! “It helps,” he said as he turned on the ominous machine. The look of abject terror on Jeffrey’s face at the beginning of the cough simulation was trumped only by the look of utter disbelief when the doctor instructed me to do it … and I did. I prayed it would somehow help, but it didn’t. In surreal fashion, Jeffrey lapsed into respiratory arrest in the office, again in the emergency room, and in the room to which he was subsequently admitted overnight. Forgiving myself is a work in progress.

Hospice was summoned after the ordeal. Morphine and suctioning kept Jeffrey comfortable until they didn’t. Late at night on Nov. 4, his dark, soulful eyes begged for help. I told our tiny warrior that we loved him, but that he could go on, and we’d be OK. He took flight to the perfect place after just two breaths.

On top of a bounty of memories, our journey with SMA was replete with appreciation and blessings that continue today. And the connections to life and signs connecting us to our loved ones? They have been plentiful and amazing.

It should keep me busy writing for a while longer.

Note: SMA News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of SMA News Today or its parent company, Bionews, and are intended to spark discussion about issues pertaining to spinal muscular atrophy.