Our Ignorant Bliss Is in the Past

Our old farmhouse has one bathroom and not much square footage. In the fall of 1996, it was already a cozy fit for two adults, two kids (ages 10 and 7), and two furry mutts. Then we learned we’d be adding a newborn. Rather than fret over the lack of space, we squeezed a crib into a corner of our room and stuffed diapers, wipes, and baby clothes wherever we could. With little time to spare, we pronounced ourselves prepared.

It’s a good thing we didn’t have a crystal ball.   

Randy and I glossed over the fact that we were on the brink of newborn duty in our mid-40s, when some people are becoming grandparents. What were we thinking? We wanted to know the answer to that question ourselves.

The reveal of our pending family expansion qualified as the biggest news of … maybe ever. We sent “Surprise!” notes out to family and friends, attributing our unexpected fertility to the mountain air. Most of them probably realized we were trying to be funny.

Jeffrey was born on May 18, 1997. Our lives changed again the evening of July 13, after my brother Paul examined Jeffrey briefly. He somberly shared his findings: no reflexes and one dull-sounding lung.

Paul, an exceptionally smart physician and exceptional brother, searched the internet that night until he discovered what he thought was the likely explanation: spinal muscular atrophy (SMA). He didn’t tell me what he’d found, perhaps hoping he was wrong. I didn’t learn until months later that he’d informed our folks about his findings the next day, perhaps to give them a head start in coping.

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Paul was on the phone with Jeffrey’s pediatrician, Dr. B, when we arrived at our scheduled well visit the next morning. (He explained later that he didn’t want her to waste time trying to figure things out.) Consequently, Dr. B cut to the chase in the exam room. She left us alone with our imaginations while she called several pediatric neurologists. She reported fairly quickly that one had responded and would be calling us to schedule an appointment.

My inner mama bear growled, “We need to see him today.” She didn’t dare argue.

That evening, the neurologist knocked our proverbial props away with his diagnosis and prognosis stunners: spinal muscular atrophy type 1, aka Werdnig-Hoffmann; death by age 4.

The lineup of torturous tests began before we could fully process what we’d just heard. Medical technicians prepped Jeffrey for a chest X-ray, strapping his arms straight above his head to a board that seemed much too narrow to hold him. I’d never seen Jeffrey cry before, much less wail. I bawled.

After the X-ray, we attempted to process everything — or rather anything. The constant beep-beep-beep and monitoring throughout the night soon seemed normal.

The next morning was even more grueling. A new blood test could confirm the SMA diagnosis and spare Jeffrey a painful muscle biopsy, for which we were grateful. However, the three nurses who apparently had drawn the shortest straws quietly informed us that the amount of blood needed was more than they could get from Jeffrey’s heel. They would need to find an untapped spot. Reluctantly and apologetically, they chose his forehead.

They admitted they had never drawn blood for this test before. In fact, they were unfamiliar with SMA itself. Welcome to the club.

The nurses proceeded gently, but the first attempt to draw blood from Jeffrey’s forehead failed. When their tiny patient turned gray, then white, I feared I might faint. Thanks to a quick prayer, I remained mostly upright. Another prayer later, precious blood dripped into the tube. As soon as the nurses deemed the amount (hopefully) sufficient, they loosened the rubber band around Jeffrey’s head.

Next came the lengthier and more horrific electromyography (EMG) to determine any muscle activity. An electrical current zapped through various muscles in Jeffrey’s legs, occasionally causing him to jerk as if he had been struck by lightning.

I wondered if it was possible to run out of tears.

Mercifully, the EMG was the grand finale. We were sent home to ponder not only the surreal past 24 hours, but also what we’d do next and how we were going to tell our families — especially Jeffrey’s adoring siblings. 

My folks met us at our house with our kids Matthew and Katie, and I began giving my spiel of optimism.

Ready or not, our SMA journey had begun.

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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 Services, and are intended to spark discussion about issues pertaining to spinal muscular atrophy.