The sustained intensity of indelible memories of SMA, and of Jeffrey
In the time before treatment, a routine appointment became my worst nightmare
The fall of 1996 brought the usual glorious colors, cooler weather, and a whammy of a news bulletin: I was pregnant.
In our 40s, my husband, Randy, and I adjusted as well as possible, as did our equally stunned son, Matthew, who was 10. Our ecstatic daughter, Katie, then 7, jubilantly began the countdown. Jeffrey arrived on May 18, 1997. He was beautiful and pronounced healthy by the physician.
I’d worried that the typical newborn wails would keep everyone else awake in our compact house, but that wasn’t an issue. Jeffrey merely whimpered when he needed anything. I noticed his lack of movement, but, incredulously, didn’t consider it a serious issue. Turns out, there was a serious issue: spinal muscular atrophy (SMA).
What we learned numbly
Jeffrey’s abdominal breathing, present at birth, bothered Randy enough to ask my brother, Paul, to check him. A doctor, Paul found a dull-sounding lung and no reflexes, explaining somberly that we’d probably be recommended to a pediatric neurologist for consultation.
On July 14, 1997, we were numbed by the diagnosis — the most severe form of SMA — and prognosis — probable death by age 4. We learned SMA progressively weakens the muscles used for movement, sucking, swallowing, and breathing. The genetics counselor quietly explained that Jeffrey would more likely be gone within two years.
Jeffrey’s first-ever wails came during the next day’s hellish tests to confirm the diagnosis. His arms were strapped above his head for the chest X-ray. Blood for the new SMA test was drawn from his forehead. The excruciating electromyography was the final torture.
Once home, Randy assumed responsibility for almost everything. My primary focus remained on Jeffrey and scouring the internet for anything remotely helpful in thwarting this genetic killer.
The weeks progressed, as did SMA. When Jeffrey’s sucking and swallowing muscles petered out, I fired up a suction machine similar to one I’d used on a former student. Jeffrey could slide his arms minimally, track with his eyes, and smile — until SMA claimed those muscles as well.
We scored an appointment with a pulmonologist experimenting with gabapentin on another little boy with SMA. Desperate to make sure we left no stone unturned, I wanted to see if Jeffrey might benefit from both gabapentin and BiPAP.
The appointment date was Oct. 6.
The day that still haunts me
The drive to Asheville, North Carolina, for the appointment hit a snag within spitting distance from home. Jeffrey needed suctioning, but the battery on the suction machine was too weak. Back home, I suctioned while Randy located an adapter in a neighboring town. We picked it up and headed on to Asheville. We should have stayed home.
The spectacular leaf colors and crystal blue skies seemed like good luck. The pulmonologist’s staff was personable and compassionate.
And then.
Before I could explain to the doctor why we were there, he left to retrieve an in-exsufflator (cough machine) that he wanted to try on Jeffrey.
I mentioned that I’d read about its benefit — for those old enough to follow commands. Jeffrey wasn’t even 5 months old. He responded simply, “It helps,” and proceeded to hook Jeffrey up. I’ve never forgiven myself for not refusing it. After 28 years, Jeffrey’s panicked expression as the machine sucked the air out of his lungs and then blew it back in still haunts me.
My blood pressure is rising as I type this, but the day’s nightmare was just beginning.
I was instructed to operate the machine myself, and despite feeling an indescribable sense of betrayal, I reluctantly did. Jeffrey, still terrified, was then unhooked. Minutes later, he went into respiratory arrest. After reviving him, the pulmonologist summoned an ambulance to transfer him to the emergency room.
He went into arrest again shortly after being placed on the ER exam table. I thought it couldn’t get any worse. I was wrong. Randy and I watched in horror as the ER team shoved tubes down Jeffrey’s throat, and an unimaginable thought wafted through the fumes of my mind: If I had a pillow, I could put him out of his misery. Mother of the year — not.
Jeffrey was admitted for the night with BiPAP. Once our tiny warrior was situated in the enormous bed, Randy left the room to regroup. Jeffrey promptly went into respiratory arrest for the third time.
BiPAP was utilized off and on during the night until I spied a tear spilling from Jeffrey’s eye. At that moment, I instructed the nurse to stop. She wisely listened.
Miraculously, we made it through the night and back home the following day. SMA continued its destructive agenda as we traded home health for hospice and added morphine to the suctioning routine. When that became insufficient, God mercifully took our sweet baby to the perfect place. He wasn’t even 6 months old.
I’m always astounded at the sustained intensity of those Oct. 6 memories. I wonder how it’ll be in another 28 years.
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.
About the Author
Leave a comment
Fill in the required fields to post. Your email address will not be published.