Like most families broadsided with an unexpected, rare diagnosis, my husband and I had never heard of the one attached to Jeffrey, our third baby. Spinal muscular atrophy (SMA) was completely foreign to us, so it came as another shock to learn that SMA was the leading genetic killer of children under 2.
Leading genetic killer of children under 2.
A stat like that didn’t sound like it belonged to a rare disease, yet almost no family hurled into the SMA club had ever heard of it — unless they knew someone or had already been there, done that.
Our own initiation into the world of SMA prompted an introduction to the internet, something my brother had been trying to describe for some time. I could never wrap my head around what he was talking about (internet? email?), so I just ignored his urging to get with the program. Being face-to-face with a deadly assignment, however, provided more than enough incentive to hook up to cyberspace. Someone came to the house to do the honors for us, as Randy and I are not blessed with tech sense. A modem glitch delayed the connection until the next day, which suddenly seemed like an eternity.
Once hooked up, our tech guru found Families of SMA (now Cure SMA), one of the only SMA support groups around in 1997. She waded through this magical wonderland until she found what she was looking for — the message board. Lo and behold, a personal friend who had received my letter about Jeffrey and SMA had posted on our behalf. Grasping the magnitude of this “internet” thing was virtually impossible but made me giddy.
A few days later, I received a phone call from a mom who had seen the post. Her daughter had SMA, and she wanted to help prepare me for a few things. While much of it was pretty depressing, not all of it was, and that was encouraging enough. I was boosted by this actual conversation with someone facing the same assignment, as it meant we weren’t alone after all!
The rest, as they say, is history. Besides mastering the message board, my super-sleuth self tracked down information about SMA in general and type 1 in particular. I sometimes felt like I was snooping where I didn’t belong. Despite the complicated technical jargon of some sites, there was no mistaking that we had our hands full trying to thwart the deadly progression of this killer disease.
I wasted no opportunity sharing our assignment with others, not so much to spread awareness of SMA as much as to beg for prayers and any sort of connection with someone — anyone — who might help.
After Jeffrey’s death, we continued spreading awareness of our little guy and SMA through the bakery and sandwich shop we opened a few months later. A flyer with Jeffrey’s story and information about SMA was strategically placed for easy access before folks ate, and a Chunk Your Change for Charity jar waited for them when they finished.
We weren’t the only ones working hard to get the word out.
The increased focus on SMA prompted the designation of August as SMA Awareness Month. The annual candle lighting honoring those living with SMA and remembering those who have passed on takes place at sunset on the second Saturday in August.
Meanwhile, SMA awareness has exploded with more foundations, more fundraisers, more CureSMA chapters, more research, and so many more Facebook groups that I lost count years ago.
Thanks to the driving awareness campaign by tenacious SMA families all over the world, SMA’s claim to notoriety — leading genetic killer of children under 2 — may be coming to a screeching halt. FDA approval of Spinraza (nusinersen) — the first-ever treatment for SMA — in December 2016, has changed the lives of countless babies, children, and adults. Zolgensma (formerly AVXS-101), the first gene replacement therapy for SMA, was approved in May, deflating the punch of SMA’s killer status down another notch or two. In addition, the push to include SMA in newborn screening in every state and across the globe continues. Early intervention with Zolgensma is essential for maximum benefit.
Although August may be SMA Awareness Month, anyone possessing the SMA card is equally aware of the other 11 months of the year. Families new to SMA with internet access are privy to both resources and support at their command any day of the year. August, however, is super-charged with respect to information and open arms.
August … SMA Awareness Month. Even though awareness never really stops.
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.