Rare disease awareness offers a brighter future

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by Halsey Blocher |

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It’s hard to say exactly what impact rare disease awareness has had on our world. What has it taught us? Those of us with SMA and other rare diseases are keenly aware of the benefits that years of advocacy, research, fundraising, and education have brought to our disability communities and personal lives, but how do we quantify the significance of these advancements?

Perhaps we can’t, but that doesn’t mean there aren’t ways we can gain further insight into how vital rare disease awareness is. To demonstrate one example, I’m going to borrow a page from my good friend and fellow SMA News Today columnist Ari Anderson’s book.

In his contribution to a set of collaborative columns we wrote for SMA Awareness Month in August, Ari imagined what his life would be like in a parallel universe where he didn’t receive the care and support he needed to thrive. I’d like to take this idea a step further and consider what the world might look like without the progress we’ve made as a result of rare disease awareness.

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An alternative reality that’s not so unbelievable

This may seem like too much of a stretch for the imagination, but the truth is that it’s fairly easy for me to picture a life in which the world is largely unaware of rare diseases like SMA. That’s because I grew up in it.

If you’ll travel back in time with me to the late 1990s, you’ll see what I mean.

When I was diagnosed with SMA, little was known about the disease or how to manage its symptoms. There was no cure or treatment options. Most medical professionals hadn’t even heard of it. They told my parents I wouldn’t live past the age of 3 — a typical prognosis.

But my monumental third birthday came and went, and my childhood was filled with joy and blessings. SMA was a constant companion for our family, though, and it reminded us of its presence through illnesses, surgeries, lost abilities, appointments, and daily medical care. Through it all, we remained hopeful and trusted in God’s plan for my life.

A world that was changing for the better

As we waited, prayed, and persevered, the world as we knew it gradually began to change. More researchers, medical professionals, and advocacy groups were becoming aware of this rare neuromuscular condition, and they wanted to help.

Over time, we learned more and improved care for SMA patients. Medical knowledge and technology were advancing, and this contributed to increased longevity and quality of life for multiple disability communities.

The cough assist machine is one example of a medical advancement that has benefited many people with SMA. It works by simulating a natural cough, which helps clear excessive mucus from the lungs and airway.

Although it was unfamiliar to many medical professionals at the time, I’ve been using this lifesaving machine as part of my regular care routine since early childhood. When I was hospitalized in 2011, we had to bring our own cough assist from home and teach the hospital staff how to use it.

Today, it’s more frequently used throughout the medical industry, and it’s been significantly upgraded for better functionality and portability.

The power of community

Greater awareness of SMA has benefits that extend beyond direct medical care, too. Widespread awareness also provides opportunities for affected families to grow as a community and build stronger networks of support, connection, and information.

The necessity and desire for these opportunities are clearly visible in the consistent and increasing attendance of annual Cure SMA conferences and other local gatherings of SMA families. And in between these in-person events, opportunities still abound for staying connected with some help from the internet.

Fellow SMA News Today columnist Helen Baldwin noted in a recent column that internet message boards were one of her most valuable resources when her son Jeffrey was diagnosed with SMA in 1997. The connections she’s built remain a source of comfort and friendship today, more than 25 years after Jeffrey’s passing.

Hope for a brighter future

The SMA world has come so much further in the past few decades than some believed possible. Yet in that short span of time, we’ve gone from barely knowing what SMA was to having three primary treatments for it. And if that reality teaches us anything, it should be that the future is always bright.

This is why rare disease awareness matters. In a world where we’re all rare, it offers us the chance to make a positive difference. Someday, we could cure SMA and countless other diseases that also need more awareness. We can save lives and find hope.

If we join together to take part in Rare Disease Day on Feb. 28, as well as other awareness initiatives throughout the year, we can reach that brighter future we’re striving for.

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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