This SMA Awareness Month, let’s reflect on how far we’ve come
Newborn screening and novel therapies are changing the SMA landscape
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Ready or not, we’re about to say “Adios!” to another month. Our daughter, Katie, and son-in-law, Paul, arrive today for a whirlwind visit, sending July packing with a bang.
A few hours after Katie and Paul depart for their next destination, the rest of the family will be hurled into official August mode, with football and speech for our grandson, James; cheerleading, gymnastics, and art lessons for our granddaughter, Clara; and school and other things for our son, Matthew, and daughter-in-law, Jill, who are both educators. My husband, Randy, and I help shuffle Clara and James from one practice or class to another.
August is the angel anniversary of my father-in-law and the birthday month for both Katie and Paul. Additionally, the month is packed with other special dates for friends and family.
In 1997, it would become a significant month for another reason.
Baby makes 5, but with a heart-wrenching surprise
Twelve summers after Randy and I married, Matthew, our first baby, was born. Three sweltering summers later, Katie joined the family. Randy and I deemed our family complete.
God deemed otherwise, though, and almost 22 years after our wedding, baby Jeffrey made our foursome a fivesome. We were about to embark on a life journey we never could’ve imagined. On July 14, 1997, eight weeks after Jeffrey’s birth, we were blindsided by a surprise he harbored.
In short, our beautiful baby was diagnosed with spinal muscular atrophy (SMA), a rare, progressive neuromuscular disease that was the leading genetic killer of children under 2. Jeffrey had a severe case of type 1, the deadliest form. As Randy and I attempted to process the bone-chilling words, the neurologist continued with the prognosis: typically death by 4 years of age. The genetics counselor halved that the following day.
It took less than 15 minutes for the neurologist to describe how the killer disease would upend life as we knew it. SMA’s insidious nature would finish the job in less than four months.
Advancements in the world of SMA
Our SMA assignment was crushing, but we were fortunate. As a former teacher of students with multiple disabilities, I wasn’t intimidated by the thought of wheelchairs, therapies, and assorted nursing duties. I knew to inquire about support groups, and our family and friends were exceptional in all ways. We relied heavily on prayer and faith.
The previous year, 1996, was substantial in the world of SMA. An organization then known as Families of SMA (FSMA, now Cure SMA) funded breakthrough projects that led to the discovery of the SMN protein, as well as carrier testing at Ohio State University. August was first recognized as SMA Awareness Month that same year, and FSMA created a website that enabled families to glean information about SMA and connect with other families, which was a godsend for me.
In 1997, when our family was inducted into the SMA community, there was virtually no hope other than a glimmer (if one knew where to look). A few families rallied cautiously as their precious children received “treatment,” if they’d heard about it in time. Many more families buried their babies and young children. Older children and adults with SMA type 1 were few and far between.
Families worked year after year to raise both awareness about SMA and funds for treatment and eventually a cure. Giving up wasn’t a consideration, and the tenacity eventually paid off. One by one, states implemented newborn screening for SMA until all 50 states were on board by early 2024. Several treatment options are currently available from birth through adulthood, with additional options forthcoming.
By now, you may have heard the story of English singer Jesy Nelson, who last year gave birth to twin girls that were diagnosed with SMA type 1. At the time, newborn screening for SMA wasn’t available in England. This is crucial, because as Muscular Dystrophy UK notes, “early treatment is vital to minimizing the impact of the condition and helping children grow up without complex needs.”
Devastated, Nelson shared her story wherever she could, including in print, on camera, and on social media. Her work (and that of many others) seems to have finally paid off, because just this month, the U.K. government announced that all babies in England will be screened for SMA, an initiative that starts later this year.
Incredibly, thanks to newborn screening and the staggering new treatments available, SMA is starting to lose its muscle, so to speak, as a leading genetic killer of children under 2. Some of us old-timers in the SMA family might have trouble grasping that revelation after so many years. Celebration is definitely in order, however, and will no doubt feature prominently in online posts throughout August for SMA Awareness Month.
I’ll also be posting throughout the month. First, though, I’m going to enjoy a very special whirlwind visit with family.
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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