Diagnosis Day packs a different kind of punch 29 years later
New treatments and newborn screening are helping children with SMA live longer
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My husband, Randy, and I moved to the North Carolina mountains in the closing hours of 1995. Although our children, Matthew and Katie, who at the time were 10 and 7, respectively, were initially unenthusiastic about changing schools, they promptly developed new friendships and an appreciation for the plethora of snow days.
In the fall of 1996, Randy began the football season as the new high school coach in a neighboring county. Almost as soon as the first kickoff sailed off the tee, the season looked to be memorable. Meanwhile, I helped my folks with the family’s newly acquired lodge and in Matthew’s and Katie’s classrooms.
I also learned I was pregnant. Surprise!
Once Randy and I recuperated from the news, we mustered ample enthusiasm and prepared for baby Jeffrey’s arrival on June 1.
As Randy dealt with escalating unpleasantness and stress at school, God handed us a gift. On May 18, 1997, two weeks ahead of schedule, and just after Randy learned he was out of a job, Jeffrey arrived.
Life without an income wasn’t ideal, but Jeffrey was an ideal newborn. For eight weeks, almost effortlessly, we adjusted to being a family of five.
The diagnosis
Yesterday, July 14, marked 29 years since a measly three letters — SMA — dramatically altered life as our family knew it.
On that fateful evening, a pediatric neurologist observed Jeffrey’s tongue fasciculations (twitching), abdominal breathing, bell-shaped trunk, floppiness, and slight arm and leg movement. He was certain Jeffrey had a severe case of the deadliest form of SMA. The muscles responsible for movement, sucking, swallowing, and breathing would likely stop functioning before Jeffrey turned 4 (the genetics counselor then halved that to 2). At the time, there was no treatment.
Jeffrey endured hellish tests to confirm the diagnosis. Memories of his being strapped to a board for the chest X-ray, the blood draw from his forehead for a new SMA test, and the excruciating electromyography as the final punishment still pack a substantial wallop for me today.
My folks were waiting with Matthew and Katie when we returned home, exhausted but determined to prove the doctor wrong. I explained our new assignment with as much optimism as I could muster, glossing over the part about Jeffrey’s muscles fading out in just a few years. Matthew, however, had already figured out enough to ask pertinent questions at bedtime. That memory also still stings.
The journey
I was stunned to discover that SMA was the leading genetic killer of children under 2. Years before, I’d taught at Brockman School, a self-contained setting for students with orthopedic and other disabilities. I’d never heard of SMA.
Randy and I set out to find possible alternative treatments that could thwart SMA’s insidious destruction, including chiropractic adjustments, massage, therapeutic electrical stimulation, essential oils, supplements, and a Brain Gym session. We prayed a lot and asked others to do the same.
We celebrated glimmers of increased movement and vocal volume. We prayed more, encouraged that we were on the right path.
Right path or not, SMA’s destructive nature picked up steam. In short order, Jeffrey’s muscles for any remaining movement, including sucking and swallowing, petered out. Suctioning, which I’d done at Brockman, became routine. After a last-ditch consultation nightmare, hospice was added to the regimen. Morphine followed.
We prayed harder. When Jeffrey indicated he was weary of the suction/morphine merry-go-round, I prayed for God to take our sweet boy to heaven.
Jeffrey was 5 1/2 months old when he snagged his ticket to the perfect place.
Exciting developments
Although our active SMA assignment ended with Jeffrey’s death, SMA remains a significant part of my life. I met a new best friend, Cindy, through the message boards of an organization now called Cure SMA. Her youngest child, Kevin, was a preschooler when we met and is now community editorial manager at Bionews, the parent company of this website. He was the one who invited me to join SMA News Today.
Kevin and his family have attended the Annual SMA Conference every summer. Cindy updates me on some of the highlights, and they are staggering. Over 300 adults with SMA attended last month’s conference! And it’s becoming increasingly difficult, if possible at all, to tell which children at the conference have SMA and which are unaffected siblings.
How is that possible? Newborn screening is now performed in all 50 states; treatment can begin shortly after birth and continue through adulthood. Additional treatment options are in the works. Thanks to these mind-boggling accomplishments, children with SMA can now live much longer lives.
Diagnosis Day doesn’t spark tears as it did for me in the early years. Long ago, I developed an appreciation of our journey and recognized our blessings. Seeing SMA families celebrating big birthdays, graduations, and symptom-free children will never get old.
Jeffrey didn’t have access to treatment in 1997, but he’s free from SMA. And that knowledge will never get old, either.
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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