Outliers, Spotted Zebras, and Life with SMA

Alyssa Silva avatar

by Alyssa Silva |

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Spinraza, SMA, economic burden

Alyssa Life One Cup At A Time

Allow me to begin this column by traveling back in time to the days of middle school mathematics. Now, my memory may not serve me as well as it did during my school days (I’ll blame it on “old” age), but I do particularly remember sitting in class learning about different terms to use in statistics: mean, median, and average.

Mean and average can be used interchangeably whereas the median is known as the middle point of the numbers or data you’re working with. However, in every sample of data are these little guys called “outliers.” The outliers always skew the results. They never quite fit the mold of the rest of the data and always make you scratch your head as to how they turn up there — completely different from the rest — in the first place.

My life with SMA feels a lot like those outliers we learned about in middle school. Aside from not reaching standard milestones as an infant, I never quite fit the traditional definition of SMA type 1. In fact, if you look at my medical records, many of them read “SMA I/II,” so I often make up my own prognosis and tell others I have type one and a half. It beats having to dive deep into my medical history and explain my disease on a more scientifically in-depth level.

Just recently, I was having a conversation with my surgeon, who performs my lumbar punctures on Spinraza injection days. At one point in our conversation, he asked, “Well, what do you do when you turn purple?”

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For a moment, I wasn’t sure how to respond. I looked at my mom then back at him and hesitantly explained how that has never happened before. I’ve never stopped breathing out of the blue. I’ve never choked on food to the point where it blocked my airway. And, well, I’ve never turned purple. Was that not normal?

Because of how unique my life with SMA has been, this particular doctor has referred to me, albeit affectionately, as his spotted zebra. Even so, he raised his eyebrows in disbelief and admitted he found it hard to believe. I then quickly reminded him who he was speaking with, and we both shared a good laugh.

Although this was just one small example in my long outstanding history of stumping medical professionals, it further proves my theory that life with SMA feels a lot like those little outliers we were taught back in school. I have yet to decide whether or not this is a good or bad statement of fact, but I do know one thing is for sure: It certainly makes life interesting.


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.


Jennifer Rellick avatar

Jennifer Rellick

There are people with Type III who are still walking as adults who only have 2 copies of the SMN 2 gene, and having 2 copies usually corresponds to a weak Type 2 who never stood or walked. There are unknown genes that compensate for SMA. On a Facebook forum, someone asked, "I've read there's a "strong" Type 2, but what is considered a strong Type 1?" I replied that it was a child who didn't require a ventilator by age 3. Someone said that if the child didn't require a ventilator by age 3, they must have been misdiagnosed. I replied with a link to your blog! I wish you and other SMA outliers could have their genomes sequenced and compared to see if you have some genetic traits that most people do not. Is anyone doing that research? I don't think so, but I think learning what genes mitigate SMA could unlock treatment possibilities.


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