Awareness, Evrysdi, and an Earthquake … Oh My!

Awareness, Evrysdi, and an Earthquake … Oh My!
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There’s no need to dwell on the insanity that has defined 2020, so I’m skipping right on over to this month. I think it’s August.

August is SMA Awareness Month, an opportunity to flood the universe with all things SMA for 31 days. Those in the SMA family obviously don’t need 31 days of focus, and their focus on SMA definitely doesn’t end when the calendar flips over to September. However, this month-long recognition takes advantage of social media’s tentacles to share SMA facts, the importance of prenatal screening, eagerly anticipated medical advances, and extraordinary success stories.

I don’t spend much time on Facebook. I make time to post in August, though. For me, SMA Awareness Month provides a chance to catch up with some of what is currently transpiring in the SMA world. I’m often flabbergasted! Numerous babies and young children I remember from our early assignment are young adults; some are heading to or graduating from college, and a few are starting their own families! In addition, some little ones with type 1 — the type that wreaked complete devastation on our baby, Jeffrey’s, physical being in mere months — are sitting up without assistance, clapping, and even walking, courtesy of astonishing treatment protocols.

Since Randy, my husband, retired from really long commutes for really long coaching days, we’re content sticking close to home during this COVID-19 mess. We occupy our “work” selves with bees, a rental cabin, another small side business, and more; our “fun” selves stay busy primarily with family. Because we typically work hard and have fun simultaneously, sometimes we can’t tell the difference. We haven’t felt cheated out of a social life because this IS our social life. And it’s never dull.

What I realize each August when I contribute to SMA awareness, however, is how much I’ve missed keeping up with fellow SMA families. I’ve kept in touch with a few over the past 20-plus years, but I remember how much I enjoyed checking in with those folks who played such a significant role in our SMA assignment. What fun it is to see familiar names again, even if it’s a simple comment on a post.

The tenacity of these families has generated the incredible happenings in the SMA world. Our family’s “active duty” status with respect to our SMA assignment ended with Jeffrey’s death over two decades ago, yet I can’t imagine life without SMA.

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After Jeffrey was diagnosed with SMA type 1 in the summer of 1997, the medical experts had virtually nothing encouraging to offer us. Granted, there wasn’t much they could offer, but neither the pediatric neurologist nor the genetic counselor volunteered the rather crucial nugget in the beginning that there was a support group for SMA families. Thankfully, because of my earlier teaching assignment, I knew to ask.

With no treatment in sight, bonding with other families walking in similar shoes was particularly vital. Families of SMA (now Cure SMA) was an absolute godsend for my first post-diagnosis phone call. I then scoured the FSMA message boards faithfully and frequently for glimmers of hope and reassurance.

On Aug. 7, 2020, the U.S. Food and Drug Administration approved Evrysdi (risdiplam), an oral treatment, for all those over 2 months with any type of SMA. It is administered either by mouth or feeding tube, not a spinal injection, like Spinraza, and it’s done at home, not in a hospital. Perhaps most encouraging is that anyone with any form of SMA over the age of 2 months has the potential for improvement in some way (newborns can utilize Zolgensma, a gene replacement therapy).

Even with this stunning boost to the physical and emotional morale of SMA families, having easy access to each other will still be crucial.

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Considering 2020’s propensity for drama, it seems fitting to toss in an earthquake.

This past Sunday morning, we had one in our little nook in North Carolina. Reports of small quakes from other sections of our mountain county have surfaced a few times throughout the past 25 years we’ve been here. We’ve kept a watchful eye on mudslides, flooding, damaging winds, and a forest fire or two, but we missed any earthquakes.

We didn’t miss this one. The epicenter was a couple of miles southeast of a small town about 20 miles away. It measured 5.1 in magnitude and made the news! It spooked our dogs and Randy and me.

There’s not much that could overshadow, albeit briefly, SMA Awareness Month or the game-changing new SMA treatment. The earthquake may have done it.

Albeit briefly.

Awareness, Evrysdi, and an earthquake … oh my!

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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.

Helen partners with Randy, her ‘retired’ husband of 46 years, in assorted endeavors: rental cabin, carpet dry-cleaning business, and bees – lots of bees! – and all that goes with them, namely honey and beeswax products. Her favorite role is ‘MomMom’ to Clara and James. Originally from Texas, Helen taught kindergarteners with orthopedic and multiple disabilities after a move to Columbia, South Carolina. A few years later, Helen, Randy, and their children, Matthew and Katie, moved close to the Blue Ridge Parkway in North Carolina. In the spring of 1997, they welcomed baby Jeffrey, a big surprise harboring an even bigger one – spinal muscular atrophy (SMA). Helen’s teaching expertise was called into action until their precious little guy snagged his wings at 5-1/2 months. She wrote The Jeffrey Journey about their special assignment and is delighted to continue sharing in her column, “We’re Not in Kansas Anymore.”
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Helen partners with Randy, her ‘retired’ husband of 46 years, in assorted endeavors: rental cabin, carpet dry-cleaning business, and bees – lots of bees! – and all that goes with them, namely honey and beeswax products. Her favorite role is ‘MomMom’ to Clara and James. Originally from Texas, Helen taught kindergarteners with orthopedic and multiple disabilities after a move to Columbia, South Carolina. A few years later, Helen, Randy, and their children, Matthew and Katie, moved close to the Blue Ridge Parkway in North Carolina. In the spring of 1997, they welcomed baby Jeffrey, a big surprise harboring an even bigger one – spinal muscular atrophy (SMA). Helen’s teaching expertise was called into action until their precious little guy snagged his wings at 5-1/2 months. She wrote The Jeffrey Journey about their special assignment and is delighted to continue sharing in her column, “We’re Not in Kansas Anymore.”
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