Looking back on Septembers past reminds me how far we’ve come

September always reminds me of the anniversaries of two incomprehensible disasters in the U.S.: 9/11 and Hurricane Helene, which devastated western North Carolina, including Ashe County, where I live.

This year, though, September brought cause for celebration for people affected by spinal muscular atrophy (SMA). Earlier this month, the U.S. Food and Drug Administration (FDA) approved Isembyld (apitegromab-mstn), “the first and only FDA-approved treatment to directly target the muscle in SMA,” the therapy’s developer, Scholar Rock, announced. The infusion treatment is specifically indicated for individuals with SMA ages 2 and older.

Also this month, new research revealed that the front and back parts of the brain actually develop completely independently of each other, as two separate organs.

The forebrain and midbrain help to control complex thought and emotion. The hindbrain regulates bodily functions and movements. Because SMA affects the nerve cells controlling movement (motor neurons), there’s a likely connection to the hindbrain. With knowledge that the hindbrain develops separately, researchers can now use a new cellular model to study SMA and other neurological diseases.

How far we’ve come in the past three decades!

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Sept. 14, 2026 Columns by Kevin Schaefer

Even with Isembyld’s OK, I’m still getting used to SMA therapy approvals

A difficult conversation and a tougher diagnosis

Let me take you back to 1997, when my husband, Randy, and I had our third baby on May 18 of that year. Jeffrey, our “bonus baby” that we weren’t expecting, was perfect!

Then, on July 7, one of our dogs was killed by a passing motorist. I had to have a conversation with our two other children, Matthew, who was 10 at the time, and Katie, 7, about death and heaven.

Six days later, my brother, Paul, a doctor, briefly examined Jeffrey. Randy had been concerned about Jeffrey’s abdominal breathing since birth, although no one in the delivery room had expressed any concern. Paul discovered that Jeffrey had a dull-sounding lung and no reflexes.

A week after our dog’s untimely death, Randy and I sat in the pediatric neurologist’s office. He was certain that Jeffrey had a severe case of SMA type 1, the deadliest form of the disease, and it would cause a gradual decline of Jeffrey’s muscles. He explained that, with no available treatment, children with SMA type 1 rarely made it to the age of 4. Our genetics counselor reduced that number to 2.

I learned that SMA was the leading genetic killer of children under 2, and it was coming for our baby.

Unable to glean any hope from the medical profession, Randy and I sought alternative treatments that seemed reasonably rational. I found other SMA families online who had either already walked in our shoes or were walking alongside us. I met someone who would become my new best friend. We prayed.

September 1997 was awful. On our way back home from an alternative medicine appointment down the mountain, I stopped at Kmart. When I looked in the shopping cart to check on Jeffrey, who was in his car seat, his mouth moved as if he were desperately trying to tell me something, but no sound came out. With panic in his eyes — and mine — I poked and prodded. I changed his soggy diaper while frantically trying to come up with a miracle move and got a miracle result: vocalization. Jeffrey relaxed, but I didn’t.

Jeffrey’s gurgling increased to the point of needing suctioning. He did fine. I cried.

Randy, who was running a new carpet dry-cleaning business, was summoned to clean the carpet of a funeral home that had been tasked with handling the eventual arrangements of Jeffrey’s own funeral. Randy held it together until he bumped into a small box containing a tiny casket. “Is that for Jeffrey?” he wondered. No one should have to ponder things like that.

Sept. 26 was particularly dreadful. Jeffrey had an electrotherapy session, and it wasn’t pleasant. As we turned into the driveway at home, he turned blue. Praise the suction machine that brought his color back, just in time to greet the physical therapist who arrived to evaluate Jeffrey for a car seat. She didn’t have much to say.

As the therapist was leaving, a substitute home health nurse arrived. In an incredibly coincidental twist, not only did she have hospice experience — which I now thought we’d be needing soon — but also her husband had SMA.

That night, after the day’s horrendous events, Jeffrey’s breathing became erratic. It was the first of several episodes of Cheyne-Stokes respiration, an “abnormal breathing pattern marked by cycles of rapid, deep breathing followed by shallow breathing or pauses in breath,” as SleepApnea.org explains. The finish line was getting closer.

In an effort to save myself from having to come up with an obituary when we actually needed one, I attempted the dreaded task on the last day of September. Failing that, I shifted to another dreaded task: picking a going-away outfit. Jeffrey actually seemed to enjoy that, perhaps because he knew he was headed to the perfect place.

The end of our assignment

Jeffrey took his final breath five weeks later. At that time, the deaths of babies and children with SMA occurred regularly, serving as a reminder that this genetic nightmare didn’t play around. There were relatively few adult deaths because adulthood was rarely attained.

Thanks to the collective efforts of families and researchers over the years, a diagnosis of SMA no longer automatically means “death by 2.” With treatment options in place, announcements of teen and adult milestones (birthdays, graduations, etc.) abound. Untimely SMA-related deaths still occur, of course, but this genetic killer is mercifully becoming tamed.

And we’ll celebrate that every month of the year.

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.