Memories of SMA diagnosis day, 28 years later
Over the years, I've come to appreciate the people we've met due to SMA
My brother’s birthday was July 13. While we generally aren’t able to get together to celebrate, we managed to do so in 1997.
Paul’s birthday fell on a Sunday back then, too. At the time, our parents served as innkeepers of the still relatively new family lodge on the Blue Ridge Parkway. My husband, Randy, and I had moved closer to help out. Consequently, Paul and his gang could see everyone by making the two-hour trek to the lodge. “Everyone” in our family included our son Matthew, who was 10 at the time, our daughter, Katie, who was 7, and our baby, Jeffrey, who was 8 weeks old that day.
I didn’t know that Randy had asked Paul, a physician, to bring his stethoscope. Jeffrey’s abdominal breathing at his birth hadn’t concerned the medical folks, but there was no denying that his tiny chest wasn’t growing as it should have. Randy wanted Paul’s expertise before a well-baby check the following day.
Jeffrey’s bell-shaped chest should’ve alarmed me. As his mama, I was the one primarily taking care of him. Sometimes, though, an optimist can be so determined to find a beam of light that the proverbial cliff goes unnoticed.
I was that optimist.
A life-altering development on the horizon
On the afternoon of July 13, 1997, Randy and Paul took Jeffrey into my folks’ room. I had intentionally distracted myself with a few mundane lodge duties beforehand in an attempt to calm my racing heart. A peculiar fog that had held me captive the previous few months abruptly lifted, exposing a sickening sense of impending doom.
I numbly made my way to the “exam” room as if it were the gallows. The expression on Paul’s face was somber. He explained that Jeffrey had a dull-sounding lung and no reflexes, and the pediatrician would probably refer us to a pediatric neurologist for consultation.
That night, Paul perused the internet for a likely diagnosis. (He found it, although I wouldn’t learn that until later.) Meanwhile, in full-fledged panic mode, I frantically scribbled a list of observations for the consultation I prayed would take place before the end of Monday.
Each new note I jotted down sounded additional alarms: our dog’s hit-and-run death a week earlier, sparking an impromptu conversation with Matthew and Katie about death and heaven; Jeffrey’s weak cry and cough; his lack of movement and head-turning; his always falling asleep after nursing only momentarily. The clincher driving me perilously close to that aforementioned cliff was the memory of an insane, fleeting thought I’d had during the surprise pregnancy with Jeffrey: that having three children was better than two because if something happened to one, you’d still have two.
Oh. My. God.
Introduction to a killer disease
On Monday morning, Randy and I headed to Brenner Children’s Hospital, where we’d meet with the first pediatric neurologist to return our pediatrician’s phone call. We’d surely find out what was going on with Jeffrey and what we’d have to do to accommodate his needs. I’d convinced myself that teaching children with disabilities years before had been the perfect stint for me for this very reason.
We were warmly greeted upon our arrival at Brenner and promptly whisked to a room. Jeffrey was hooked up to intimidating machines that beeped and blinked while we waited. Medical students at the teaching hospital began strolling in. Some gently picked up Jeffrey as others observed, perhaps incredulous (in my thinking, anyway) that there was anything wrong with this beautiful baby. Jeffrey remained agreeable, as did I, hoping that one brilliant future doctor might know what was going on.
Hours passed before the pediatric neurologist made an appearance. But it took him mere minutes to crush us with the probable diagnosis and prognosis: a severe case of the deadliest form of spinal muscular atrophy (SMA), type 1. At the time, there was no treatment or cure, and the prognosis was generally less than 2 years old. Those babies usually just went to sleep, and it was usually peaceful.
I’ve had some scary dreams in the past in which I opened my mouth to scream but nothing came out. Thankfully, I could wake myself from those nightmares.
In the current reality, I was too stunned for my mouth to respond. The piercing screams inside my head, though, would’ve shattered glass had they not been muffled by my tears.
Diagnosis day anniversary
On this Wednesday 28 years ago, our family forged ahead on our unplanned journey. It ended less than four months after the diagnosis, but boy, what a packed few months they were. We learned about SMA, and even more about ourselves. We experienced the power of faith and prayer and the graciousness of others.
My optimistic self unearthed bright spots, even as SMA’s deadly clutches tightened on our sweet Jeffrey. Given all the positives (the people!) that emerged from our assignment, “Diagnosis Day” stopped conjuring sad memories years ago. And that’s a particularly bright spot, even for an optimist.
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.
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