We’re All Rare in Our Own Ways

Whenever my family and I meet new SMA specialists, they’re usually rather perplexed by me. They watch in amazement and excitement as my abilities defy the expected progression for an adult with SMA type 1 — someone whose rare genetic coding says they probably shouldn’t be alive, let alone doing well.

They absorb the sight of me moving my arms and hands and grasping objects in front of my chest while I sit in my wheelchair smiling and holding a verbal conversation with them. My range of abilities can be surprising, but our understanding of SMA is constantly changing, and we’ve made groundbreaking advancements in treatments and medical technology.

Of course, there are still plenty of things I can’t do, such as lift my arms. I can move them back and forth in front of my body, but only when someone else correctly positions them for me. And there are days when fatigue stops me from doing anything more than sluggishly dragging them across tabletops, milking every drop of strength from my fingertips to push and pull my heavy arms in the right direction.

Recommended Reading

February 14, 2022 News by Marta Figueiredo, PhD

New DNA Reference Map May Aid in Identifying SMN1 Mutations

I can sit up in my power wheelchair and drive it, but only after a person or mechanical lift hoists me from bed and sets me there. Once seated, my body must be comfortably situated and fully supported at all times by side supports, headrests, custom pillows (sewn with love by my grandma), and more.

I even need help with basic functions that most people wouldn’t think much about. My feeding pump supplies most of my nutrition because chewing and swallowing can often be challenging and exhausting, and my ventilator ensures that I keep breathing when I’m sleeping or sick.

As you can see, a lot of effort and teamwork goes into maintaining my care, but commitment and dedication to a lengthy medical routine, which includes thrice daily breathing treatments, is a key factor in preserving every ounce of my strength and health.

My medical team at the SMA clinic at Nationwide Children’s Hospital is aware of my extensive care regimen, but there’s another piece of information in my chart from my original diagnostic blood test in 1999 that further explains why they find my case to be particularly intriguing: I have zero copies of the survivor motor neuron 1 (SMN1) gene.

This gene carries the instructions for building SMN protein, which creates muscle. The fewer copies of it that someone has, the more severe their SMA should be.

Additionally, I have only two copies of the SMN2 gene, which supplements SMN1.

From a purely scientific viewpoint, there is no reason for me to have the abilities that I do. My family and I find that the only explanation is divine intervention and protection. My mom calls it “the God gene.”

A few physicians have agreed with this evaluation and urged me to hold on to my faith, which they believe may actually be benefiting my health. My initial prognosis was extremely grim, and I believe that God is the source of strength that’s sustained me past the three years I was expected to live.

I’m not the only one in this community who has beaten the odds of their prognosis. I have many friends who weren’t expected to survive through infancy or childhood, but are still rolling through life as adults. Some have passed away, but not before they defiantly crushed the limits placed on them beneath their wheels.

As I write this, much of the disability community is gearing up for Rare Disease Day on Feb. 28, but what does it mean to be rare? SMA is classified as a rare disease, and I have a rare form of the genetic mutation (or deletion, in my case) that causes it. Simply being alive for so long was once thought to be rare, too.

So, does my disability make me rare? I think it’s one of the things that does. But I’m far from the only one. Even within each of the classifications that we use to define SMA types, the disease affects everyone differently. In our own ways, we’re all completely unique.

For example, look at fellow columnists Alyssa Silva, Ari Anderson, and me — we all have SMA type 1, but if you read our stories, you’ll see that our journeys with SMA are not the same. There are similarities, of course, but we each have experiences and effects that are specific to us. This is true of our entire community.

Rare Disease Day is an opportunity for awareness and advocacy, but it’s also a celebration of the rare people who live with those diseases. At the end of the day, we’re all different — we’re all rare — and that’s always worth celebrating.

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.