The miracle of making it to 2 years and beyond with SMA type 1

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by Helen Baldwin |

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Our granddaughter, Clara, sails through her page of first-grade sight words. She guesses wildly at times, but she’s usually quick to sound out most of the new words. I take opportunities to add bits of often-confusing trivia about homonyms, homophones, and homographs and relay some old stories. Clara prefers to focus on her assignments until they’re finished, but tries to humor me.

One of the earliest bonus teaching opportunities involved “two, too, and to,” which reminded me of a favorite conversation with Clara, who was almost 4 at the time, and her brother, James, who was two years younger. They’d both watched “Frozen” on TV, but Clara had recently snagged a viewing of the newly released “Frozen 2” in the movie theater.

Clara: “MomMom, can we watch ‘Frozen’?”

James: “I wanna wah ‘Fozen,’ too!”

Clara, in her slightly perturbed teacher voice: “Jamesie, we don’t have ‘Frozen 2!’”

James, decibels skyrocketing: “WAAAHHH!”

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“Two” conjures up another memory as well. It commenced the evening of July 14, 1997, in the office of a pediatric neurologist who’d just briefly examined our baby. The doctor matter-of-factly rattled out his theory that Jeffrey had a severe case of the most severe form of spinal muscular atrophy (SMA), whatever that was.

Before my husband, Randy, and I had a chance to regroup, the neurologist continued with the prognosis: “Death typically occurs by age 4.” I wondered if tears could ever run out.

The following day, the genetics counselor quietly adjusted the neurologist’s claim, informing us that 4 was pretty old for children with SMA type 1. They were usually gone by their second birthday, she said.

Two years?! God, no.

We didn’t get close to one year.

A peek at Asher’s SMA journey

I don’t know anyone who would willingly volunteer to become part of the SMA family. However, I also don’t know anyone who hasn’t somehow risen up to the myriad, relentless challenges unleashed by this insidious disease. It’s an extraordinary group of folks, and getting to know some of them has been a genuine blessing.

Asher Camp arrived on March 14, 2013. He seemed perfectly healthy at birth, but at 6 months old, he was diagnosed with SMA type 1. His parents, Jeremy and Amanda, were told he wouldn’t live past 2 years old.

Unlike our own post-diagnosis grasping at straws, there’s a positive twist to this story. A month after Asher’s diagnosis, he began receiving Spinraza (nusinersen), a drug designed to help replace the protein missing in SMA. Asher was also placed on an amino acid diet hailed by the SMA community. Jeremy and Amanda wondered if it would be enough.

It was enough for a celebration of Asher’s first birthday! There was plenty of reason for hoopla, as Asher could sit up to open his presents with assistance.

A toddler sits upright next to his mother with a big, colorful birthday present in front of him and a large book case behind.

Asher sits up just a few months after beginning Spinraza treatment — just in time to open birthday presents on March 20, 2014. (Courtesy of Amanda Camp)

At 18 months, Asher was wheeling around with a walker. The path to “two” looked a bit less ominous than it had a year before, but the wariness was impossible to shake. As Amanda sorted baby clothes by size, she came to a cute “I am 2” shirt.

In Amanda’s words: “I stopped and stared at the shirt for several minutes. I was completely frozen as my mind began to race. Will Asher make it to 2? Should I save this shirt? Should I save clothes, toys, and other things for ‘when he gets older’? I was too sad and worried and heartbroken to answer those questions. I couldn’t answer those questions because they aren’t questions to be answered.”

Not by us, anyway.

Sometimes the little things are the big things

Amanda’s gift of expression and willingness to share her sweet boy’s remarkable progress and the realities of SMA via video has boosted untold SMA families. She’s giddy when sharing giddy-worthy updates (opening the refrigerator, taking independent steps) and candid when it comes to other facets of SMA (perpetual equipment hassles and outrageous costs, the emotional toll of the unknown, and coping).

A young boy smiles as he opens a refrigerator. He is barefoot and wearing a stocking cap.

Being unable to open the fridge frustrated Asher, so he practiced for months. The smile when he succeeded on May 12, 2019, says it all. (Video screenshot by Amanda Camp)

Her videos have stirred the emotional pot for anyone familiar with SMA’s havoc. Families newly hurled into the world of SMA now have hope, and rightly so. While families for whom treatment seemed a pipe dream are crushed that their children weren’t privy to it, so many of us are ecstatic when witnessing videos of little ones with SMA type 1 sitting, standing, walking, and even running. Accounts from last year’s Cure SMA conference shared in awe that it was sometimes impossible to tell which toddlers were siblings and which ones had SMA!

A sideway shot of a young boy standing on brown carpet or a rug, with a kitchen behind him. He wears green pants, shoes, and no shirt. A hand is reaching toward him from behind.

One week after Spinraza injection No. 16, Asher takes his first independent steps on Oct. 4, 2018. The video of this stunning accomplishment has been viewed 139,000 times so far. (Video screenshot by Amanda Camp)

In the blink of an eye, Asher turned 10 this month. But it’s the video of him at 2, eating cupcakes by himself, that truly takes the cake.

Amanda’s words, paraphrased: I see him sitting up in his chair like a big boy/ lifting a cupcake with two little arms/ holding on to the cupcake with his fingertips/ chewing each bite/ talking, asking for more strawberries/ coughing, clearing his airways.

Miracle, that’s what I see.

And those cupcakes? Asher may have had two, too.

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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