SMA treatment was once a pipe dream. Now, we have 5 options.
The latest approved therapy 'has the potential to be life-changing'
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Our third baby, Jeffrey, arrived May 18, 1997, three days after my 43rd birthday. He joined his siblings, Matthew, then 10, and Katie, then 7. Although the pregnancy was unplanned, my husband, Randy, and I warmed up effortlessly to the idea of another baby. We didn’t worry about our lack of space. He’d be sleeping in our room initially, anyway.
Jeffrey’s arrival coincided with the end of Randy’s gainful employment and the beginning of self-employment. Thankful for the distraction of a new baby, I raved about his mellow nature. He only whimpered when he needed something and had the daintiest cough I’d ever heard. He also lay perfectly still during diaper changes!
Jeffrey was a perfect newborn for someone more “mature” and more than a little stunned by a surprise pregnancy.
I’d soon be thankful I was neither young nor a first-time mama.
A brief SMA assignment and questions that followed
Jeffrey was 2 months old when Randy and I took him to Brenner Children’s Hospital. Randy had become increasingly concerned about Jeffrey’s abdominal breathing. It had been present at birth, but no one with medical credentials in attendance seemed to think it was worrisome. Randy took it upon himself to ask my doctor brother, Paul, to briefly examine him.
Paul’s exam revealed no reflexes and a dull-sounding lung. He quietly advised us that the pediatrician would likely refer us to a pediatric neurologist. Coincidentally, Jeffrey was already scheduled for a well-baby checkup the following day. Instead of a checkup, however, we found ourselves on the road to Brenner for a consultation with a pediatric neurologist.
It took several hours for the neurologist to enter the room to examine Jeffrey. It took mere minutes and just three words — spinal muscular atrophy, or SMA — for him to turn our lives upside down and inside out.
Like most newly diagnosed SMA families, we’d never heard of the condition. We’d barely had a chance to absorb the (probable) diagnosis before the neurologist informed us that all of Jeffrey’s muscles — controlling everything from moving to breathing — would eventually stop working. In the deadliest form of SMA (type 1), “eventually” meant up to four years. According to the neurologist, Jeffrey had a severe case.
He didn’t make it to six months.
Some time later, when I’d had a chance to more fully process this life-changing assignment, I pondered a few thoughts. If our first baby had been affected, would we have had more children? How did families cope when SMA hit more than once, or sometimes more than twice? How would we have dealt with the destructive nature of the disease had we not been somewhat seasoned by other life challenges first? Was it even possible to be sufficiently “seasoned” to bury your child?
From no treatment (or hope) to 4 options
Although considered rare in 1997, SMA was the leading genetic killer of children under 2. Treatments — and, certainly, a cure — were a pipe dream for those involuntarily inducted into the SMA community. Reeling but tenacious, Randy and I grasped at all imaginable straws to find something that might halt SMA in its insidious tracks. We failed to stumble upon a magic potion, but our tiny warrior took flight only after we were relatively satisfied that we’d exhausted the options known to us at the time.
Fast forward to 2016, when those pipe dreams became a miraculous reality. In those with SMA, mutations in the SMN1 gene result in an inadequate amount of the survival motor neuron (SMN) protein, which is vital for motor neuron functioning. While the SMN2 gene also provides instructions for making the SMN protein, it is insufficient on its own.
The first approved SMA treatment, Spinraza (nusinersen), enables the SMN2 gene to make more complete SMN protein. Injected into the spinal canal, maintenance doses are ultimately given every four months for life. It is approved in the U.S. for all ages and types of SMA.
Zolgensma (onasemnogene abeparvovec-xioi), a gene therapy approved for children under 2, requires a single one-hour intravenous infusion. It uses an adeno-associated virus to deliver a working copy of SMN1 to the body’s cells.
Evrysdi (risdiplam) modifies SMN2‘s splicing process to help it produce more functional SMN protein. Taken orally daily, it’s approved for all ages and types of SMA.
Itvisma (onasemnogene abeparvovec-brve), a gene therapy approved for SMA patients ages 2 and older, is administered via a one-time injection into the spinal canal.
Sept. 11: Daunting memories and a 5th SMA treatment
Last Friday marked the 25th anniversary of the still-surreal 9/11 attacks. On the same day, Scholar Rock announced that the U.S. Food and Drug Administration had approved the first SMA treatment to directly target the muscles. Isembyld (apitegromab) is designated for patients 2 years and older who are already receiving an SMN2-targeted treatment. According to Cure SMA, the therapy “has the potential to be life-changing — offering new possibilities for improved motor function, greater independence, and enhanced quality of life.”
Life-changing, for sure, in an extraordinary way. What a cause for celebration!
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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